Phenotype: Infantile onset (HP:0003593)
Associated genes and diseases:
gene_symbol: MUSK
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: MUSK
disease_id: OMIM:616325
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: CHRNE
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: CHRNE
disease_id: OMIM:616324
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL
gene_symbol: GFPT1
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: VHL
disease_id: OMIM:263400
disease_name: ERYTHROCYTOSIS, FAMILIAL, 2
gene_symbol: NCKAP1L
disease_id: OMIM:618982
disease_name: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: TBC1D7
disease_id: OMIM:248000
disease_name: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: NEXMIF
disease_id: OMIM:300912
disease_name: MENTAL RETARDATION, X-LINKED 98
gene_symbol: CHRND
disease_id: OMIM:616322
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
gene_symbol: CHRND
disease_id: OMIM:616321
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
gene_symbol: RFX5
disease_id: OMIM:620818
disease_name: MHC CLASS II DEFICIENCY 5
gene_symbol: RFX5
disease_id: OMIM:620816
disease_name: MHC CLASS II DEFICIENCY 3
gene_symbol: DNA2
disease_id: OMIM:620819
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 4
gene_symbol: GNAO1
disease_id: OMIM:615473
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17
gene_symbol: GNAO1
disease_id: OMIM:617493
disease_name: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
gene_symbol: RFXAP
disease_id: OMIM:620817
disease_name: MHC CLASS II DEFICIENCY 4
gene_symbol: KDM6B
disease_id: OMIM:618505
disease_name: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES
gene_symbol: CLMP
disease_id: OMIM:615237
disease_name: CONGENITAL SHORT BOWEL SYNDROME
gene_symbol: CASK
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
gene_symbol: G6PD
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
gene_symbol: TWIST1
disease_id: OMIM:123100
disease_name: CRANIOSYNOSTOSIS 1
gene_symbol: TWIST1
disease_id: OMIM:180750
disease_name: ROBINOW-SORAUF SYNDROME
gene_symbol: STEAP3
disease_id: OMIM:615234
disease_name: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2
gene_symbol: SZT2
disease_id: OMIM:615476
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18
gene_symbol: ROR1
disease_id: OMIM:617654
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 108
gene_symbol: CACNA2D2
disease_id: OMIM:618501
disease_name: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY
gene_symbol: KCNJ11
disease_id: OMIM:616329
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
gene_symbol: KCNJ11
disease_id: OMIM:610582
disease_name: DIABETES MELLITUS, TRANSIENT NEONATAL, 3
gene_symbol: CLPB
disease_id: OMIM:619835
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA
gene_symbol: CLPB
disease_id: OMIM:619813
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT
gene_symbol: CLPB
disease_id: OMIM:616271
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII
gene_symbol: CHRNA1
disease_id: OMIM:608930
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
gene_symbol: CHRNA1
disease_id: OMIM:601462
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
gene_symbol: MTRR
disease_id: OMIM:236270
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
gene_symbol: GDAP1
disease_id: OMIM:607831
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
gene_symbol: GDAP1
disease_id: OMIM:214400
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A
gene_symbol: GDAP1
disease_id: OMIM:608340
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
gene_symbol: JPH1
disease_id: OMIM:607831
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
gene_symbol: DNAAF4
disease_id: OMIM:615482
disease_name: CILIARY DYSKINESIA, PRIMARY, 25
gene_symbol: MEFV
disease_id: OMIM:249100
disease_name: FAMILIAL MEDITERRANEAN FEVER
gene_symbol: MRPS34
disease_id: OMIM:617664
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
gene_symbol: MARS1
disease_id: OMIM:615486
disease_name: INTERSTITIAL LUNG AND LIVER DISEASE
gene_symbol: MARS1
disease_id: OMIM:619692
disease_name: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE
gene_symbol: MARS1
disease_id: OMIM:620323
disease_name: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE
gene_symbol: CHAMP1
disease_id: OMIM:616579
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
gene_symbol: ATP1A2
disease_id: OMIM:619605
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98
gene_symbol: DTYMK
disease_id: OMIM:619847
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
gene_symbol: POLD1
disease_id: OMIM:620836
disease_name: IMMUNODEFICIENCY 120
gene_symbol: ST3GAL3
disease_id: OMIM:615006
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15
gene_symbol: ATP1A3
disease_id: OMIM:619606
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99
gene_symbol: ATP1A3
disease_id: OMIM:601338
disease_name: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: AFG2A
disease_id: OMIM:616577
disease_name: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
gene_symbol: ZFYVE19
disease_id: OMIM:619849
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9
gene_symbol: YWHAG
disease_id: OMIM:617665
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56
gene_symbol: KMT2E
disease_id: OMIM:618512
disease_name: O'DONNELL-LURIA-RODAN SYNDROME
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: AARS1
disease_id: OMIM:616339
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29
gene_symbol: AARS1
disease_id: OMIM:619691
disease_name: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE
gene_symbol: GON7
disease_id: OMIM:619603
disease_name: GALLOWAY-MOWAT SYNDROME 9
gene_symbol: NAA80
disease_id: OMIM:620830
disease_name: OMIM:620830
gene_symbol: TRAPPC12
disease_id: OMIM:617669
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
gene_symbol: DGKE
disease_id: OMIM:615008
disease_name: NEPHROTIC SYNDROME, TYPE 7
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: ERCC8
disease_id: OMIM:614621
disease_name: UV-SENSITIVE SYNDROME 2
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: GNPTAB
disease_id: OMIM:252600
disease_name: MUCOLIPIDOSIS III ALPHA/BETA
gene_symbol: YRDC
disease_id: OMIM:619609
disease_name: GALLOWAY-MOWAT SYNDROME 10
gene_symbol: MYH7
disease_id: OMIM:160500
disease_name: MYOPATHY, DISTAL, 1
gene_symbol: MYH7
disease_id: OMIM:613426
disease_name: CARDIOMYOPATHY, DILATED, 1S
gene_symbol: WDR62
disease_id: OMIM:604317
disease_name: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS
gene_symbol: TH
disease_id: OMIM:605407
disease_name: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: CFTR
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: FCGR2A
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: TGFB1
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
gene_symbol: SOX18
disease_id: OMIM:607823
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
gene_symbol: SOX18
disease_id: OMIM:137940
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
gene_symbol: TRMU
disease_id: OMIM:613070
disease_name: LIVER FAILURE, INFANTILE, TRANSIENT
gene_symbol: MMP9
disease_id: OMIM:613073
disease_name: METAPHYSEAL ANADYSPLASIA 2
gene_symbol: TRIM2
disease_id: OMIM:615490
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
gene_symbol: CAMK2G
disease_id: OMIM:618522
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59
gene_symbol: ALDH18A1
disease_id: OMIM:616586
disease_name: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
gene_symbol: ALDH18A1
disease_id: OMIM:219150
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
gene_symbol: RIN2
disease_id: OMIM:613075
disease_name: MACS SYNDROME
gene_symbol: PCK1
disease_id: OMIM:261680
disease_name: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC
gene_symbol: TAF13
disease_id: OMIM:617432
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
gene_symbol: ADAR
disease_id: OMIM:615010
disease_name: AICARDI-GOUTIERES SYNDROME 6
gene_symbol: ADAR
disease_id: OMIM:127400
disease_name: DYSCHROMATOSIS SYMMETRICA HEREDITARIA
gene_symbol: UBTF
disease_id: OMIM:617672
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
gene_symbol: VAMP2
disease_id: OMIM:618760
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS
gene_symbol: AFG2B
disease_id: OMIM:619616
disease_name: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
gene_symbol: ELOVL1
disease_id: OMIM:618527
disease_name: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
gene_symbol: CXCR4
disease_id: OMIM:193670
disease_name: WHIM SYNDROME
gene_symbol: POLG2
disease_id: OMIM:618528
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)
gene_symbol: DNM1
disease_id: OMIM:616346
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31
gene_symbol: DNM1
disease_id: OMIM:620352
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B
gene_symbol: SLC19A1
disease_id: OMIM:620603
disease_name: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE
gene_symbol: HTT
disease_id: OMIM:617435
disease_name: LOPES-MACIEL-RODAN SYNDROME
gene_symbol: VLDLR
disease_id: OMIM:224050
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1
gene_symbol: TOMM7
disease_id: OMIM:620601
disease_name: GARG-MISHRA PROGEROID SYNDROME
gene_symbol: IMPDH1
disease_id: OMIM:180105
disease_name: RETINITIS PIGMENTOSA 10
gene_symbol: FRMD7
disease_id: OMIM:310700
disease_name: NYSTAGMUS 1, CONGENITAL, X-LINKED
gene_symbol: DGUOK
disease_id: OMIM:251880
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
gene_symbol: CHD1
disease_id: OMIM:617682
disease_name: PILAROWSKI-BJORNSSON SYNDROME
gene_symbol: TRPM4
disease_id: OMIM:618531
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6
gene_symbol: PI4KA
disease_id: OMIM:619621
disease_name: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE
gene_symbol: PI4KA
disease_id: OMIM:619708
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2
gene_symbol: CYP27B1
disease_id: OMIM:264700
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
gene_symbol: FBP2
disease_id: OMIM:619864
disease_name: LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING
gene_symbol: RRAGC
disease_id: OMIM:620609
disease_name: LONG-OLSEN-DISTELMAIER SYNDROME
gene_symbol: SNX14
disease_id: OMIM:616354
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
gene_symbol: NEDD4L
disease_id: OMIM:617201
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 7
gene_symbol: PARN
disease_id: OMIM:616353
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
gene_symbol: NDST1
disease_id: OMIM:616116
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
gene_symbol: NLRC4
disease_id: OMIM:616115
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4
gene_symbol: NDUFAF8
disease_id: OMIM:618776
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34
gene_symbol: WBP4
disease_id: OMIM:620852
disease_name: OMIM:620852
gene_symbol: TBCE
disease_id: OMIM:617207
disease_name: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
gene_symbol: MYO5B
disease_id: OMIM:619868
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10
gene_symbol: MGAT2
disease_id: OMIM:212066
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
gene_symbol: PMM2
disease_id: OMIM:212065
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
gene_symbol: LCA5
disease_id: OMIM:604537
disease_name: LEBER CONGENITAL AMAUROSIS 5
gene_symbol: CYP2U1
disease_id: OMIM:615030
disease_name: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
gene_symbol: TBX21
disease_id: OMIM:619630
disease_name: IMMUNODEFICIENCY 88
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: CHD5
disease_id: OMIM:619873
disease_name: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME
gene_symbol: P4HB
disease_id: OMIM:112240
disease_name: COLE-CARPENTER SYNDROME 1
gene_symbol: P4HB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SEMA7A
disease_id: OMIM:619874
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11
gene_symbol: TRMT1
disease_id: OMIM:618302
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
gene_symbol: KCNA2
disease_id: OMIM:616366
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: TBC1D23
disease_id: OMIM:617695
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 11
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
gene_symbol: PKHD1
disease_id: OMIM:263200
disease_name: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: NEK10
disease_id: OMIM:618781
disease_name: CILIARY DYSKINESIA, PRIMARY, 44
gene_symbol: KCNJ13
disease_id: OMIM:614186
disease_name: LEBER CONGENITAL AMAUROSIS 16
gene_symbol: PRKG2
disease_id: OMIM:619638
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE
gene_symbol: POLD3
disease_id: OMIM:620869
disease_name: OMIM:620869
gene_symbol: CWF19L1
disease_id: OMIM:616127
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
gene_symbol: ISG15
disease_id: OMIM:616126
disease_name: IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
gene_symbol: TIMM50
disease_id: OMIM:617698
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX
gene_symbol: PLS1
disease_id: OMIM:618787
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 76
gene_symbol: CPSF3
disease_id: OMIM:619876
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
gene_symbol: ZNF526
disease_id: OMIM:619877
disease_name: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME
gene_symbol: TPO
disease_id: OMIM:274500
disease_name: THYROID DYSHORMONOGENESIS 2A
gene_symbol: ADCY5
disease_id: OMIM:606703
disease_name: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA
gene_symbol: ADCY5
disease_id: OMIM:619651
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA
gene_symbol: IGHM
disease_id: OMIM:601495
disease_name: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
gene_symbol: MAP2K2
disease_id: OMIM:615280
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 4
gene_symbol: ABCB11
disease_id: OMIM:602347
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3
gene_symbol: ABCB11
disease_id: OMIM:601847
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2
gene_symbol: ABCB4
disease_id: OMIM:602347
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3
gene_symbol: ATP8B1
disease_id: OMIM:602347
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3
gene_symbol: ATP8B1
disease_id: OMIM:211600
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1
gene_symbol: BCAS3
disease_id: OMIM:619641
disease_name: HENGEL-MAROOFIAN-SCHOLS SYNDROME
gene_symbol: COPB2
disease_id: OMIM:619884
disease_name: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY
gene_symbol: COPB2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: DARS1
disease_id: OMIM:615281
disease_name: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
gene_symbol: ISCA2
disease_id: OMIM:616370
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
gene_symbol: TRPA1
disease_id: OMIM:615040
disease_name: EPISODIC PAIN SYNDROME, FAMILIAL, 1
gene_symbol: ZNFX1
disease_id: OMIM:619644
disease_name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
gene_symbol: SCN4A
disease_id: OMIM:614198
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 16
gene_symbol: SCN4A
disease_id: OMIM:170500
disease_name: HYPERKALEMIC PERIODIC PARALYSIS
gene_symbol: SCN4A
disease_id: OMIM:170400
disease_name: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
gene_symbol: SCN4A
disease_id: OMIM:168300
disease_name: PARAMYOTONIA CONGENITA OF VON EULENBURG
gene_symbol: LAMB2
disease_id: OMIM:614199
disease_name: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
gene_symbol: PCDHGC4
disease_id: OMIM:619880
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
gene_symbol: VPS45
disease_id: OMIM:615285
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
gene_symbol: SLC38A3
disease_id: OMIM:619881
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102
gene_symbol: PPA2
disease_id: OMIM:617222
disease_name: SUDDEN CARDIAC FAILURE, INFANTILE
gene_symbol: ADAT3
disease_id: OMIM:615286
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
gene_symbol: DLG4
disease_id: OMIM:618793
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62
gene_symbol: GRIN2B
disease_id: OMIM:616139
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27
gene_symbol: MIPEP
disease_id: OMIM:617228
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
gene_symbol: BLM
disease_id: OMIM:210900
disease_name: BLOOM SYNDROME
gene_symbol: ATP1A1
disease_id: OMIM:618314
disease_name: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2
gene_symbol: FLII
disease_id: OMIM:620635
disease_name: CARDIOMYOPATHY, DILATED, 2J
gene_symbol: RNF31
disease_id: OMIM:620632
disease_name: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION
gene_symbol: PITRM1
disease_id: OMIM:619405
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30
gene_symbol: WLS
disease_id: OMIM:619648
disease_name: ZAKI SYNDROME
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
gene_symbol: TWNK
disease_id: OMIM:271245
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)
gene_symbol: TNNT2
disease_id: OMIM:601494
disease_name: CARDIOMYOPATHY, DILATED, 1D
gene_symbol: DIP2B
disease_id: OMIM:136630
disease_name: MENTAL RETARDATION, FRA12A TYPE
gene_symbol: MSX2
disease_id: OMIM:604757
disease_name: CRANIOSYNOSTOSIS 2
gene_symbol: KRT14
disease_id: OMIM:601001
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
gene_symbol: KRT14
disease_id: OMIM:131900
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
gene_symbol: BICD2
disease_id: OMIM:615290
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
gene_symbol: MPI
disease_id: OMIM:602579
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
gene_symbol: DRC1
disease_id: OMIM:615294
disease_name: CILIARY DYSKINESIA, PRIMARY, 21
gene_symbol: NAXD
disease_id: OMIM:618321
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: PLP1
disease_id: OMIM:312920
disease_name: SPASTIC PARAPLEGIA 2, X-LINKED
gene_symbol: TNR
disease_id: OMIM:619653
disease_name: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS
gene_symbol: VAMP1
disease_id: OMIM:618323
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC
gene_symbol: RARS1
disease_id: OMIM:616140
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 9
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
gene_symbol: IDS
disease_id: OMIM:309900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE II
gene_symbol: MICOS13
disease_id: OMIM:618329
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37
gene_symbol: YARS1
disease_id: OMIM:619418
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2
gene_symbol: SLC18A3
disease_id: OMIM:617239
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: PTH
disease_id: OMIM:146200
disease_name: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: GLB1
disease_id: OMIM:230500
disease_name: GM1-GANGLIOSIDOSIS, TYPE I
gene_symbol: MACF1
disease_id: OMIM:618325
disease_name: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION
gene_symbol: MRPL39
disease_id: OMIM:620646
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59
gene_symbol: USP53
disease_id: OMIM:619658
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS
gene_symbol: SLC6A6
disease_id: OMIM:145350
disease_name: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY
gene_symbol: CLXN
disease_id: OMIM:620642
disease_name: CILIARY DYSKINESIA, PRIMARY, 53
gene_symbol: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
gene_symbol: TBK1
disease_id: OMIM:620880
disease_name: OMIM:620880
gene_symbol: TBK1
disease_id: OMIM:617900
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
gene_symbol: SI
disease_id: OMIM:222900
disease_name: SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
gene_symbol: ATCAY
disease_id: OMIM:601238
disease_name: CEREBELLAR ATAXIA, CAYMAN TYPE
gene_symbol: ATG7
disease_id: OMIM:619422
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: C2orf69
disease_id: OMIM:619423
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53
gene_symbol: CUX1
disease_id: OMIM:618330
disease_name: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: TMEM38B
disease_id: OMIM:615066
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIV
gene_symbol: TMEM38B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TRAPPC2L
disease_id: OMIM:618331
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS
gene_symbol: KIF12
disease_id: OMIM:619662
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8
gene_symbol: ADD3
disease_id: OMIM:617008
disease_name: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3
gene_symbol: GUCY2D
disease_id: OMIM:204000
disease_name: LEBER CONGENITAL AMAUROSIS 1
gene_symbol: ZAP70
disease_id: OMIM:617006
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
gene_symbol: ZAP70
disease_id: OMIM:269840
disease_name: IMMUNODEFICIENCY 48
gene_symbol: SPTSSA
disease_id: OMIM:620416
disease_name: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT
gene_symbol: SPTSSA
disease_id: OMIM:620417
disease_name: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE
gene_symbol: B4GALNT1
disease_id: OMIM:609195
disease_name: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
gene_symbol: PURA
disease_id: OMIM:616158
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
gene_symbol: POLE
disease_id: OMIM:618336
disease_name: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY
gene_symbol: TUFT1
disease_id: OMIM:620415
disease_name: WOOLLY HAIR-SKIN FRAGILITY SYNDROME
gene_symbol: DDB1
disease_id: OMIM:619426
disease_name: WHITE-KERNOHAN SYNDROME
gene_symbol: RAP1GDS1
disease_id: OMIM:620655
disease_name: ALFADHEL SYNDROME
gene_symbol: GLS
disease_id: OMIM:618339
disease_name: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: HPD
disease_id: OMIM:276710
disease_name: TYROSINEMIA, TYPE III
gene_symbol: HPD
disease_id: OMIM:140350
disease_name: HAWKINSINURIA
gene_symbol: MYMK
disease_id: OMIM:254940
disease_name: CAREY-FINEMAN-ZITER SYNDROME
gene_symbol: TTN
disease_id: OMIM:611705
disease_name: SALIH MYOPATHY
gene_symbol: FZD4
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: LRP5
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: LRP5
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: LRP5
disease_id: OMIM:601813
disease_name: EXUDATIVE VITREORETINOPATHY 4
gene_symbol: AMMECR1
disease_id: OMIM:300990
disease_name: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: ERCC6
disease_id: OMIM:600630
disease_name: UV-SENSITIVE SYNDROME 1
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: GATAD2B
disease_id: OMIM:615074
disease_name: GAND SYNDROME
gene_symbol: BTK
disease_id: OMIM:300755
disease_name: AGAMMAGLOBULINEMIA, X-LINKED
gene_symbol: FGG
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: FGA
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: FGB
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: CTNNB1
disease_id: OMIM:615075
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS
gene_symbol: COL6A1
disease_id: OMIM:254090
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1
gene_symbol: LINGO1
disease_id: OMIM:618103
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64
gene_symbol: TGM3
disease_id: OMIM:617251
disease_name: UNCOMBABLE HAIR SYNDROME 2
gene_symbol: CSF3R
disease_id: OMIM:617014
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE
gene_symbol: SLC39A14
disease_id: OMIM:617013
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 2
gene_symbol: TMTC3
disease_id: OMIM:617255
disease_name: LISSENCEPHALY 8
gene_symbol: FANCB
disease_id: OMIM:300514
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP B
gene_symbol: PUS7
disease_id: OMIM:618342
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE
gene_symbol: KDM5B
disease_id: OMIM:618109
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65
gene_symbol: ARFGEF2
disease_id: OMIM:608097
disease_name: PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE
gene_symbol: FTH1
disease_id: OMIM:620669
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9
gene_symbol: INTS11
disease_id: OMIM:620428
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES
gene_symbol: PYROXD1
disease_id: OMIM:617258
disease_name: MYOPATHY, MYOFIBRILLAR, 8
gene_symbol: WDR4
disease_id: OMIM:618347
disease_name: GALLOWAY-MOWAT SYNDROME 6
gene_symbol: OGDH
disease_id: OMIM:203740
disease_name: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
gene_symbol: DPAGT1
disease_id: OMIM:608093
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij
gene_symbol: DPAGT1
disease_id: OMIM:614750
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 13
gene_symbol: IRF1
disease_id: OMIM:620668
disease_name: IMMUNODEFICIENCY 117
gene_symbol: SET
disease_id: OMIM:618106
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
gene_symbol: GCSH
disease_id: OMIM:620423
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7
gene_symbol: HGD
disease_id: OMIM:203500
disease_name: ALKAPTONURIA
gene_symbol: MPDU1
disease_id: OMIM:609180
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
gene_symbol: RIPK1
disease_id: OMIM:618108
disease_name: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION
gene_symbol: NEB
disease_id: OMIM:256030
disease_name: NEMALINE MYOPATHY 2
gene_symbol: CD40LG
disease_id: OMIM:308230
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
gene_symbol: CHKB
disease_id: OMIM:602541
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE
gene_symbol: GJB2
disease_id: OMIM:602540
disease_name: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
gene_symbol: PRKAR1B
disease_id: OMIM:619680
disease_name: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME
gene_symbol: SNX10
disease_id: OMIM:615085
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
gene_symbol: PPP2CA
disease_id: OMIM:618354
disease_name: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: COL7A1
disease_id: OMIM:226600
disease_name: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
gene_symbol: ARV1
disease_id: OMIM:617020
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38
gene_symbol: SOD1
disease_id: OMIM:618598
disease_name: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE
gene_symbol: RORB
disease_id: OMIM:618357
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15
gene_symbol: STX1B
disease_id: OMIM:616172
disease_name: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
gene_symbol: TSEN15
disease_id: OMIM:617026
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
gene_symbol: DBR1
disease_id: OMIM:619441
disease_name: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11
gene_symbol: PRKACG
disease_id: OMIM:616176
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 19
gene_symbol: TNIK
disease_id: OMIM:617028
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54
gene_symbol: CACNA1H
disease_id: OMIM:617027
disease_name: HYPERALDOSTERONISM, FAMILIAL, TYPE IV
gene_symbol: SRRM2
disease_id: OMIM:620439
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72
gene_symbol: PERP
disease_id: OMIM:619208
disease_name: OLMSTED SYNDROME 2
gene_symbol: SEC61A1
disease_id: OMIM:620674
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT
gene_symbol: SEC61A1
disease_id: OMIM:620670
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 15
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
gene_symbol: BMP1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: SERPINF1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SERPINF1
disease_id: OMIM:613982
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VI
gene_symbol: COL1A2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: NBAS
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: NBAS
disease_id: OMIM:616483
disease_name: INFANTILE LIVER FAILURE SYNDROME 2
gene_symbol: MESD
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MIA3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MIA3
disease_id: OMIM:619269
disease_name: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES
gene_symbol: KIF5B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PHLDB1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CREB3L1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: COL1A1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL1A1
disease_id: OMIM:166200
disease_name: OSTEOGENESIS IMPERFECTA, TYPE I
gene_symbol: WNT11
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SLC10A7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SPARC
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SPARC
disease_id: OMIM:616507
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XVII
gene_symbol: SEC16B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SEC24D
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLOD2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P3H1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: ALPL
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P4HA1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P4HA1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: SERPINH1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: IFITM5
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: IFITM5
disease_id: OMIM:610967
disease_name: OSTEOGENESIS IMPERFECTA, TYPE V
gene_symbol: CCDC134
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CRTAP
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLS3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B3GAT3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B3GAT3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B4GALT7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B4GALT7
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: TENT5A
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: GORAB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: GORAB
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: TAPT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SGMS2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: FKBP10
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: FKBP10
disease_id: OMIM:610968
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XI
gene_symbol: XYLT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: XYLT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: SP7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SP7
disease_id: OMIM:613849
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XII
gene_symbol: AMBN
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: AMBN
disease_id: OMIM:616270
disease_name: AMELOGENESIS IMPERFECTA, TYPE IF
gene_symbol: KDELR2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: KDELR2
disease_id: OMIM:619131
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXI
gene_symbol: LIFR
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: DSPP
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: DSPP
disease_id: OMIM:125420
disease_name: DENTIN DYSPLASIA, TYPE II
gene_symbol: WNT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B3GALT6
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B3GALT6
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B3GALT6
disease_id: OMIM:615349
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
gene_symbol: MBTPS2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CHST3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CHST3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PPIB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PPIB
disease_id: OMIM:259440
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IX
gene_symbol: PSAP
disease_id: OMIM:611722
disease_name: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
gene_symbol: POLR1A
disease_id: OMIM:620675
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 27
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: CBLB
disease_id: OMIM:620430
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3
gene_symbol: KCTD7
disease_id: OMIM:611726
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS
gene_symbol: SELENON
disease_id: OMIM:602771
disease_name: RIGID SPINE MUSCULAR DYSTROPHY 1
gene_symbol: COLGALT1
disease_id: OMIM:618360
disease_name: BRAIN SMALL VESSEL DISEASE 3
gene_symbol: MBD5
disease_id: OMIM:156200
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
gene_symbol: ELP2
disease_id: OMIM:617270
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
gene_symbol: RLIM
disease_id: OMIM:300978
disease_name: TONNE-KALSCHEUER SYNDROME
gene_symbol: MTHFS
disease_id: OMIM:618367
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
gene_symbol: ANAPC7
disease_id: OMIM:619699
disease_name: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
gene_symbol: ATP6AP1
disease_id: OMIM:300972
disease_name: IMMUNODEFICIENCY 47
gene_symbol: FTSJ1
disease_id: OMIM:309549
disease_name: MENTAL RETARDATION, X-LINKED 9
gene_symbol: SLC39A7
disease_id: OMIM:619693
disease_name: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE
gene_symbol: SMARCC2
disease_id: OMIM:618362
disease_name: COFFIN-SIRIS SYNDROME 8
gene_symbol: LTBP1
disease_id: OMIM:619451
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE
gene_symbol: LMBRD2
disease_id: OMIM:619694
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES
gene_symbol: NSD2
disease_id: OMIM:619695
disease_name: RAUCH-STEINDL SYNDROME
gene_symbol: AP3B2
disease_id: OMIM:617276
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48
gene_symbol: MAP3K14
disease_id: OMIM:620449
disease_name: IMMUNODEFICIENCY 112
gene_symbol: RNU12
disease_id: OMIM:620208
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33
gene_symbol: GPRC5B
disease_id: OMIM:620447
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3
gene_symbol: HCFC1
disease_id: OMIM:309541
disease_name: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
gene_symbol: AQP4
disease_id: OMIM:620448
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING
gene_symbol: TTI1
disease_id: OMIM:620445
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
gene_symbol: HNRNPC
disease_id: OMIM:620688
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74
gene_symbol: CAMLG
disease_id: OMIM:620201
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: MYO7A
disease_id: OMIM:276900
disease_name: USHER SYNDROME, TYPE I
gene_symbol: USH1C
disease_id: OMIM:276900
disease_name: USHER SYNDROME, TYPE I
gene_symbol: GET4
disease_id: OMIM:620200
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy
gene_symbol: AUH
disease_id: OMIM:250950
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE I
gene_symbol: KARS1
disease_id: OMIM:613916
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 89
gene_symbol: PCYT1A
disease_id: OMIM:620680
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5
gene_symbol: PCYT1A
disease_id: OMIM:608940
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
gene_symbol: FMN2
disease_id: OMIM:616193
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47
gene_symbol: ERCC2
disease_id: OMIM:601675
disease_name: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
gene_symbol: ERBB2
disease_id: OMIM:619465
disease_name: VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE
gene_symbol: SDHB
disease_id: OMIM:619224
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: POMGNT2
disease_id: OMIM:618135
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8
gene_symbol: SLC39A4
disease_id: OMIM:201100
disease_name: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
gene_symbol: SLC41A1
disease_id: OMIM:619468
disease_name: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2
gene_symbol: FRMPD4
disease_id: OMIM:300983
disease_name: MENTAL RETARDATION, X-LINKED 104
gene_symbol: TPP2
disease_id: OMIM:619220
disease_name: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY
gene_symbol: SASH1
disease_id: OMIM:618373
disease_name: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA
gene_symbol: SASH1
disease_id: OMIM:127500
disease_name: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1
gene_symbol: CARMIL2
disease_id: OMIM:618131
disease_name: IMMUNODEFICIENCY 58
gene_symbol: NEUROD2
disease_id: OMIM:618374
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72
gene_symbol: HNRNPH2
disease_id: OMIM:300986
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE
gene_symbol: GTPBP3
disease_id: OMIM:616198
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
gene_symbol: NR1H4
disease_id: OMIM:617049
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
gene_symbol: AKT2
disease_id: OMIM:240900
disease_name: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
gene_symbol: BCKDHB
disease_id: OMIM:620698
disease_name: MAPLE SYRUP URINE DISEASE, TYPE IB
gene_symbol: EIF4A2
disease_id: OMIM:620455
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: TRPV4
disease_id: OMIM:168400
disease_name: PARASTREMMATIC DWARFISM
gene_symbol: TRPV4
disease_id: OMIM:184252
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
gene_symbol: HEPACAM
disease_id: OMIM:613925
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
gene_symbol: HEPACAM
disease_id: OMIM:613926
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION
gene_symbol: HEPACAM
disease_id: OMIM:604004
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
gene_symbol: MTR
disease_id: OMIM:250940
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE
gene_symbol: SLC25A36
disease_id: OMIM:620211
disease_name: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8
gene_symbol: TEFM
disease_id: OMIM:620451
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58
gene_symbol: S1PR2
disease_id: OMIM:610419
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 68
gene_symbol: LRP1
disease_id: OMIM:620690
disease_name: DEVELOPMENTAL DYSPLASIA OF THE HIP 3
gene_symbol: LRP1
disease_id: OMIM:604093
disease_name: KERATOSIS PILARIS ATROPHICANS
gene_symbol: PUS3
disease_id: OMIM:617051
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE
gene_symbol: PLPBP
disease_id: OMIM:617290
disease_name: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
gene_symbol: KLHL7
disease_id: OMIM:617055
disease_name: PERCHING SYNDROME
gene_symbol: KIDINS220
disease_id: OMIM:617296
disease_name: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
gene_symbol: SAMD9
disease_id: OMIM:617053
disease_name: MIRAGE SYNDROME
gene_symbol: SAMD9
disease_id: OMIM:610455
disease_name: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL
gene_symbol: SELENBP1
disease_id: OMIM:618148
disease_name: EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY
gene_symbol: CUX2
disease_id: OMIM:618141
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67
gene_symbol: NOTCH2NLC
disease_id: OMIM:619473
disease_name: OCULOPHARYNGODISTAL MYOPATHY 3
gene_symbol: BAAT
disease_id: OMIM:619232
disease_name: BILE ACID CONJUGATION DEFECT 1
gene_symbol: PIGS
disease_id: OMIM:618143
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
gene_symbol: FERMT3
disease_id: OMIM:612840
disease_name: LEUKOCYTE ADHESION DEFICIENCY, TYPE III
gene_symbol: CUL3
disease_id: OMIM:619239
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES
gene_symbol: MED12
disease_id: OMIM:309520
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE
gene_symbol: ATP6V0C
disease_id: OMIM:620465
disease_name: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY
gene_symbol: FKTN
disease_id: OMIM:253800
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
gene_symbol: FKTN
disease_id: OMIM:611588
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4
gene_symbol: FKTN
disease_id: OMIM:613152
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4
gene_symbol: RNH1
disease_id: OMIM:620461
disease_name: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12
gene_symbol: ANK1
disease_id: OMIM:182900
disease_name: SPHEROCYTOSIS, TYPE 1
gene_symbol: HNRNPA2B1
disease_id: OMIM:620460
disease_name: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2
gene_symbol: SUPT16H
disease_id: OMIM:619480
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM
gene_symbol: MBTPS1
disease_id: OMIM:618392
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE
gene_symbol: CSNK2A1
disease_id: OMIM:617062
disease_name: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: TRIO
disease_id: OMIM:617061
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
gene_symbol: TRIO
disease_id: OMIM:618825
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY
gene_symbol: PAK1
disease_id: OMIM:618158
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
gene_symbol: SLC51A
disease_id: OMIM:619484
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6
gene_symbol: GABRG2
disease_id: OMIM:618396
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74
gene_symbol: DDX3X
disease_id: OMIM:300958
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE
gene_symbol: IDH3A
disease_id: OMIM:619007
disease_name: RETINITIS PIGMENTOSA 90
gene_symbol: SLC25A38
disease_id: OMIM:205950
disease_name: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY
gene_symbol: IQSEC2
disease_id: OMIM:309530
disease_name: MENTAL RETARDATION, X-LINKED 1
gene_symbol: NLRP12
disease_id: OMIM:611762
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2
gene_symbol: TUFM
disease_id: OMIM:610678
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
gene_symbol: GNS
disease_id: OMIM:252940
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIID
gene_symbol: AGR2
disease_id: OMIM:620233
disease_name: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA
gene_symbol: ACTB
disease_id: OMIM:620475
disease_name: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY
gene_symbol: ACTB
disease_id: OMIM:620470
disease_name: CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY
gene_symbol: RPSA
disease_id: OMIM:271400
disease_name: ASPLENIA, ISOLATED CONGENITAL
gene_symbol: SACS
disease_id: OMIM:270550
disease_name: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
gene_symbol: SOST
disease_id: OMIM:122860
disease_name: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: RNPC3
disease_id: OMIM:618160
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V
gene_symbol: EDEM3
disease_id: OMIM:619493
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v
gene_symbol: PTS
disease_id: OMIM:261640
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A
gene_symbol: TRAF7
disease_id: OMIM:618164
disease_name: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
gene_symbol: NSUN3
disease_id: OMIM:619012
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48
gene_symbol: TP53
disease_id: OMIM:618165
disease_name: BONE MARROW FAILURE SYNDROME 5
gene_symbol: COPB1
disease_id: OMIM:619255
disease_name: BARALLE-MACKEN SYNDROME
gene_symbol: VPS33B
disease_id: OMIM:620009
disease_name: KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: VPS33B
disease_id: OMIM:620010
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12
gene_symbol: SYNGAP1
disease_id: OMIM:612621
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 5
gene_symbol: MEGF10
disease_id: OMIM:620249
disease_name: CONGENITAL MYOPATHY 10B, MILD VARIANT
gene_symbol: LGI3
disease_id: OMIM:620007
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS
gene_symbol: MID2
disease_id: OMIM:300928
disease_name: MENTAL RETARDATION, X-LINKED 101
gene_symbol: CACNA1S
disease_id: OMIM:620246
disease_name: CONGENITAL MYOPATHY 18
gene_symbol: CACNA1S
disease_id: OMIM:170400
disease_name: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
gene_symbol: TREX1
disease_id: OMIM:610448
disease_name: CHILBLAIN LUPUS 1
gene_symbol: TMEM163
disease_id: OMIM:620243
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 25
gene_symbol: NSRP1
disease_id: OMIM:620001
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
gene_symbol: ATP9A
disease_id: OMIM:620242
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES
gene_symbol: THPO
disease_id: OMIM:620481
disease_name: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2
gene_symbol: KRT10
disease_id: OMIM:146600
disease_name: ICHTHYOSIS HYSTRIX, LAMBERT TYPE
gene_symbol: MYO5A
disease_id: OMIM:214450
disease_name: GRISCELLI SYNDROME, TYPE 1
gene_symbol: RANBP2
disease_id: OMIM:608033
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
gene_symbol: GOLGA2
disease_id: OMIM:620240
disease_name: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES
gene_symbol: SCN8A
disease_id: OMIM:617080
disease_name: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
gene_symbol: SCN8A
disease_id: OMIM:614558
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13
gene_symbol: NMNAT1
disease_id: OMIM:619260
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS
gene_symbol: NMNAT1
disease_id: OMIM:608553
disease_name: LEBER CONGENITAL AMAUROSIS 9
gene_symbol: ATP6V0A4
disease_id: OMIM:602722
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS
gene_symbol: FOXC1
disease_id: OMIM:601631
disease_name: ANTERIOR SEGMENT DYSGENESIS 3
gene_symbol: GBA1
disease_id: OMIM:230900
disease_name: GAUCHER DISEASE, TYPE II
gene_symbol: MRPS25
disease_id: OMIM:619025
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50
gene_symbol: ECM1
disease_id: OMIM:247100
disease_name: LIPOID PROTEINOSIS OF URBACH AND WIETHE
gene_symbol: HPDL
disease_id: OMIM:619026
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: QDPR
disease_id: OMIM:261630
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
gene_symbol: MFF
disease_id: OMIM:617086
disease_name: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
gene_symbol: ANTXR2
disease_id: OMIM:228600
disease_name: HYALINE FIBROMATOSIS SYNDROME
gene_symbol: CTNNA2
disease_id: OMIM:618174
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9
gene_symbol: GPR101
disease_id: OMIM:300942
disease_name: CHROMOSOME Xq26.3 DUPLICATION SYNDROME
gene_symbol: SCN2A
disease_id: OMIM:613721
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11
gene_symbol: SCN2A
disease_id: OMIM:607745
disease_name: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
gene_symbol: KCNQ2
disease_id: OMIM:613720
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7
gene_symbol: PLCB1
disease_id: OMIM:613722
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12
gene_symbol: PCLO
disease_id: OMIM:608027
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 3
gene_symbol: PHKA2
disease_id: OMIM:306000
disease_name: GLYCOGEN STORAGE DISEASE IXa1
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: RPS29
disease_id: OMIM:615909
disease_name: DIAMOND-BLACKFAN ANEMIA 13
gene_symbol: HECTD4
disease_id: OMIM:620250
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
gene_symbol: GM2A
disease_id: OMIM:272750
disease_name: GM2-GANGLIOSIDOSIS, AB VARIANT
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: NDP
disease_id: OMIM:305390
disease_name: EXUDATIVE VITREORETINOPATHY 2, X-LINKED
gene_symbol: NDP
disease_id: OMIM:310600
disease_name: NORRIE DISEASE
gene_symbol: PDE2A
disease_id: OMIM:619150
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES
gene_symbol: SIL1
disease_id: OMIM:248800
disease_name: MARINESCO-SJOGREN SYNDROME
gene_symbol: SLC6A8
disease_id: OMIM:300352
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 1
gene_symbol: NBEA
disease_id: OMIM:619157
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY
gene_symbol: CLCN4
disease_id: OMIM:300114
disease_name: RAYNAUD-CLAES SYNDROME
gene_symbol: NOS1AP
disease_id: OMIM:619155
disease_name: NEPHROTIC SYNDROME, TYPE 22
gene_symbol: IL37
disease_id: OMIM:619398
disease_name: INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE
gene_symbol: PACS2
disease_id: OMIM:618067
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66
gene_symbol: FLAD1
disease_id: OMIM:255100
disease_name: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY
gene_symbol: TCIRG1
disease_id: OMIM:259700
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
gene_symbol: MVK
disease_id: OMIM:260920
disease_name: HYPER-IgD SYNDROME
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
gene_symbol: OTC
disease_id: OMIM:311250
disease_name: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: MTO1
disease_id: OMIM:614702
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
gene_symbol: CACNA2D1
disease_id: OMIM:620149
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110
gene_symbol: CAV1
disease_id: OMIM:612526
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3
gene_symbol: TNNT1
disease_id: OMIM:620389
disease_name: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT
gene_symbol: TNNT1
disease_id: OMIM:620386
disease_name: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET
gene_symbol: RPL35A
disease_id: OMIM:612528
disease_name: DIAMOND-BLACKFAN ANEMIA 5
gene_symbol: FZR1
disease_id: OMIM:620145
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109
gene_symbol: SLC37A4
disease_id: OMIM:232220
disease_name: GLYCOGEN STORAGE DISEASE Ib
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: ARPC4
disease_id: OMIM:620141
disease_name: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES
gene_symbol: SLC38A8
disease_id: OMIM:609218
disease_name: FOVEAL HYPOPLASIA 2
gene_symbol: GATA1
disease_id: OMIM:300367
disease_name: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
gene_symbol: GATA1
disease_id: OMIM:300835
disease_name: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
gene_symbol: FCHO1
disease_id: OMIM:619164
disease_name: IMMUNODEFICIENCY 76
gene_symbol: UFC1
disease_id: OMIM:618076
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
gene_symbol: CPT2
disease_id: OMIM:600649
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
gene_symbol: SDHAF1
disease_id: OMIM:619166
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: SDHD
disease_id: OMIM:619167
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: LMBRD1
disease_id: OMIM:277380
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
gene_symbol: PGAP1
disease_id: OMIM:615802
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
gene_symbol: KCNT1
disease_id: OMIM:614959
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14
gene_symbol: CLP1
disease_id: OMIM:615803
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 10
gene_symbol: CRYAB
disease_id: OMIM:613869
disease_name: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
gene_symbol: AMPD2
disease_id: OMIM:615809
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
gene_symbol: CA12
disease_id: OMIM:143860
disease_name: HYPERCHLORHIDROSIS, ISOLATED
gene_symbol: LIPA
disease_id: OMIM:620151
disease_name: WOLMAN DISEASE
gene_symbol: LIPA
disease_id: OMIM:278000
disease_name: LYSOSOMAL ACID LIPASE DEFICIENCY
gene_symbol: TPR
disease_id: OMIM:620393
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79
gene_symbol: RRAGD
disease_id: OMIM:620152
disease_name: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY
gene_symbol: RPS6KA3
disease_id: OMIM:303600
disease_name: COFFIN-LOWRY SYNDROME
gene_symbol: NDUFC2
disease_id: OMIM:619170
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36
gene_symbol: LMNB1
disease_id: OMIM:619179
disease_name: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT
gene_symbol: CACNA1G
disease_id: OMIM:618087
disease_name: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
gene_symbol: KCNJ10
disease_id: OMIM:612780
disease_name: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
gene_symbol: IRF2BPL
disease_id: OMIM:618088
disease_name: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
gene_symbol: UNC45B
disease_id: OMIM:619178
disease_name: MYOFIBRILLAR MYOPATHY 11
gene_symbol: CNTN1
disease_id: OMIM:612540
disease_name: MYOPATHY, CONGENITAL, COMPTON-NORTH
gene_symbol: CHMP1A
disease_id: OMIM:614961
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 8
gene_symbol: CD59
disease_id: OMIM:612300
disease_name: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY
gene_symbol: G6PC1
disease_id: OMIM:232200
disease_name: GLYCOGEN STORAGE DISEASE Ia
gene_symbol: TNFRSF11A
disease_id: OMIM:612301
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: LEPR
disease_id: OMIM:614963
disease_name: LEPTIN RECEPTOR DEFICIENCY
gene_symbol: PROC
disease_id: OMIM:612304
disease_name: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
gene_symbol: CNNM4
disease_id: OMIM:217080
disease_name: JALILI SYNDROME
gene_symbol: KCNMA1
disease_id: OMIM:609446
disease_name: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY
gene_symbol: KCNMA1
disease_id: OMIM:618729
disease_name: LIANG-WANG SYNDROME
gene_symbol: KCNMA1
disease_id: OMIM:617643
disease_name: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
gene_symbol: WASHC4
disease_id: OMIM:615817
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43
gene_symbol: GOSR2
disease_id: OMIM:620166
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES
gene_symbol: MCCC2
disease_id: OMIM:210210
disease_name: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
gene_symbol: CRLS1
disease_id: OMIM:620167
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57
gene_symbol: PSMG2
disease_id: OMIM:619183
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4
gene_symbol: CAMK2A
disease_id: OMIM:618095
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63
gene_symbol: CAMK2A
disease_id: OMIM:617798
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
gene_symbol: TOGARAM1
disease_id: OMIM:619185
disease_name: JOUBERT SYNDROME 37
gene_symbol: BCL11B
disease_id: OMIM:618092
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
gene_symbol: SDHA
disease_id: OMIM:613642
disease_name: CARDIOMYOPATHY, DILATED, 1GG
gene_symbol: SDHA
disease_id: OMIM:252011
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: CYP24A1
disease_id: OMIM:143880
disease_name: HYPERCALCEMIA, INFANTILE, 1
gene_symbol: NTRK2
disease_id: OMIM:613886
disease_name: OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY
gene_symbol: SATB2
disease_id: OMIM:612313
disease_name: GLASS SYNDROME
gene_symbol: MCCC1
disease_id: OMIM:210200
disease_name: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
gene_symbol: SLC46A1
disease_id: OMIM:229050
disease_name: FOLATE MALABSORPTION, HEREDITARY
gene_symbol: ERLIN2
disease_id: OMIM:611225
disease_name: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE
gene_symbol: CD320
disease_id: OMIM:613646
disease_name: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
gene_symbol: PIGG
disease_id: OMIM:616917
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: ALG8
disease_id: OMIM:608104
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih
gene_symbol: DEAF1
disease_id: OMIM:615828
disease_name: VULTO-VAN SILFHOUT-DE VRIES SYNDROME
gene_symbol: DEAF1
disease_id: OMIM:617171
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES
gene_symbol: AP5Z1
disease_id: OMIM:613647
disease_name: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
gene_symbol: TBC1D24
disease_id: OMIM:608105
disease_name: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP
gene_symbol: TBC1D24
disease_id: OMIM:605021
disease_name: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE
gene_symbol: TBC1D24
disease_id: OMIM:615338
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16
gene_symbol: SLC52A3
disease_id: OMIM:211530
disease_name: BROWN-VIALETTO-VAN LAERE SYNDROME 1
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: SH3KBP1
disease_id: OMIM:300310
disease_name: IMMUNODEFICIENCY 61
gene_symbol: NLRP3
disease_id: OMIM:191900
disease_name: MUCKLE-WELLS SYNDROME
gene_symbol: NLRP3
disease_id: OMIM:120100
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
gene_symbol: NLRP3
disease_id: OMIM:607115
disease_name: CINCA SYNDROME
gene_symbol: AUTS2
disease_id: OMIM:615834
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
gene_symbol: PDE10A
disease_id: OMIM:616921
disease_name: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
gene_symbol: IL10RB
disease_id: OMIM:612567
disease_name: INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE
gene_symbol: LYRM7
disease_id: OMIM:615838
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
gene_symbol: DDOST
disease_id: OMIM:614507
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir
gene_symbol: RAD51
disease_id: OMIM:614508
disease_name: MIRROR MOVEMENTS 2
gene_symbol: RAD51
disease_id: OMIM:157600
disease_name: MIRROR MOVEMENTS 1
gene_symbol: FARSB
disease_id: OMIM:613658
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1
gene_symbol: POLG
disease_id: OMIM:203700
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
gene_symbol: POLG
disease_id: OMIM:613662
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
gene_symbol: ITGA3
disease_id: OMIM:614748
disease_name: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
gene_symbol: PANK2
disease_id: OMIM:234200
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
gene_symbol: SLF2
disease_id: OMIM:620184
disease_name: ATELIS SYNDROME 1
gene_symbol: SLC35C1
disease_id: OMIM:266265
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
gene_symbol: ZNF668
disease_id: OMIM:620194
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
gene_symbol: PGM2L1
disease_id: OMIM:620191
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES
gene_symbol: DLAT
disease_id: OMIM:245348
disease_name: PYRUVATE DEHYDROGENASE E2 DEFICIENCY
gene_symbol: ATP2B3
disease_id: OMIM:302500
disease_name: SPINOCEREBELLAR ATAXIA, X-LINKED 1
gene_symbol: HPRT1
disease_id: OMIM:300322
disease_name: LESCH-NYHAN SYNDROME
gene_symbol: MTMR14
disease_id: OMIM:160150
disease_name: MYOPATHY, CENTRONUCLEAR, 1
gene_symbol: DNM2
disease_id: OMIM:160150
disease_name: MYOPATHY, CENTRONUCLEAR, 1
gene_symbol: ALG11
disease_id: OMIM:613661
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: INPP5E
disease_id: OMIM:610156
disease_name: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME
gene_symbol: IFIH1
disease_id: OMIM:615846
disease_name: AICARDI-GOUTIERES SYNDROME 7
gene_symbol: IFIH1
disease_id: OMIM:619773
disease_name: IMMUNODEFICIENCY 95
gene_symbol: IFIH1
disease_id: OMIM:182250
disease_name: SINGLETON-MERTEN SYNDROME 1
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: PLG
disease_id: OMIM:217090
disease_name: PLASMINOGEN DEFICIENCY, TYPE I
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: ITPR1
disease_id: OMIM:206700
disease_name: GILLESPIE SYNDROME
gene_symbol: ZBTB18
disease_id: OMIM:612337
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
gene_symbol: MED17
disease_id: OMIM:613668
disease_name: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
gene_symbol: CD3G
disease_id: OMIM:615607
disease_name: IMMUNODEFICIENCY 17
gene_symbol: RLBP1
disease_id: OMIM:607476
disease_name: NEWFOUNDLAND ROD-CONE DYSTROPHY
gene_symbol: EHHADH
disease_id: OMIM:615605
disease_name: FANCONI RENOTUBULAR SYNDROME 3
gene_symbol: LTV1
disease_id: OMIM:620199
disease_name: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES
gene_symbol: ILDR1
disease_id: OMIM:609646
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 42
gene_symbol: DPM1
disease_id: OMIM:608799
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
gene_symbol: AVPR2
disease_id: OMIM:300539
disease_name: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
gene_symbol: CLCN7
disease_id: OMIM:611490
disease_name: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4
gene_symbol: SOBP
disease_id: OMIM:613671
disease_name: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
gene_symbol: FOXP1
disease_id: OMIM:613670
disease_name: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
gene_symbol: CD247
disease_id: OMIM:610163
disease_name: IMMUNODEFICIENCY 25
gene_symbol: TCF3
disease_id: OMIM:616941
disease_name: AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT
gene_symbol: TCF3
disease_id: OMIM:619824
disease_name: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE
gene_symbol: MTPAP
disease_id: OMIM:613672
disease_name: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
gene_symbol: VPS53
disease_id: OMIM:615851
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E
gene_symbol: CD3E
disease_id: OMIM:615615
disease_name: IMMUNODEFICIENCY 18
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: TGFBR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TBL1XR1
disease_id: OMIM:616944
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
gene_symbol: ASS1
disease_id: OMIM:215700
disease_name: CITRULLINEMIA, CLASSIC
gene_symbol: WAC
disease_id: OMIM:616708
disease_name: DESANTO-SHINAWI SYNDROME
gene_symbol: ALS2
disease_id: OMIM:607225
disease_name: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING
gene_symbol: CD3D
disease_id: OMIM:615617
disease_name: IMMUNODEFICIENCY 19
gene_symbol: DOCK7
disease_id: OMIM:615859
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23
gene_symbol: OSTM1
disease_id: OMIM:259720
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5
gene_symbol: WNK1
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: RETREG1
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: SCN9A
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: KIF1A
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: THOC6
disease_id: OMIM:613680
disease_name: BEAULIEU-BOYCOTT-INNES SYNDROME
gene_symbol: EP300
disease_id: OMIM:613684
disease_name: RUBINSTEIN-TAYBI SYNDROME 2
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: RDX
disease_id: OMIM:611022
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 24
gene_symbol: MEF2C
disease_id: OMIM:613443
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
gene_symbol: DHX30
disease_id: OMIM:617804
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
gene_symbol: ITGA7
disease_id: OMIM:613204
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY
gene_symbol: VARS1
disease_id: OMIM:617802
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
gene_symbol: TELO2
disease_id: OMIM:616954
disease_name: YOU-HOOVER-FONG SYNDROME
gene_symbol: LMNA
disease_id: OMIM:613205
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
gene_symbol: ARID2
disease_id: OMIM:617808
disease_name: COFFIN-SIRIS SYNDROME 6
gene_symbol: SCYL1
disease_id: OMIM:616719
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21
gene_symbol: LZTR1
disease_id: OMIM:605275
disease_name: NOONAN SYNDROME 2
gene_symbol: RAB11B
disease_id: OMIM:617807
disease_name: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER
gene_symbol: KIF5A
disease_id: OMIM:604187
disease_name: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT
gene_symbol: OPA1
disease_id: OMIM:210000
disease_name: BEHR SYNDROME
gene_symbol: POLR3A
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: POLR3B
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: POLR3B
disease_id: OMIM:619742
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I
gene_symbol: TNFSF11
disease_id: OMIM:259710
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
gene_symbol: ATP6AP2
disease_id: OMIM:301045
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr
gene_symbol: ATP6AP2
disease_id: OMIM:300423
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE
gene_symbol: SCN1A
disease_id: OMIM:607208
disease_name: DRAVET SYNDROME
gene_symbol: SCN1A
disease_id: OMIM:619317
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B
gene_symbol: HCN1
disease_id: OMIM:615871
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24
gene_symbol: WDR81
disease_id: OMIM:610185
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: GPAA1
disease_id: OMIM:617810
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15
gene_symbol: CARD14
disease_id: OMIM:173200
disease_name: PITYRIASIS RUBRA PILARIS
gene_symbol: ADK
disease_id: OMIM:614300
disease_name: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
gene_symbol: FOXG1
disease_id: OMIM:613454
disease_name: RETT SYNDROME, CONGENITAL VARIANT
gene_symbol: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: SLC2A1
disease_id: OMIM:612126
disease_name: GLUT1 DEFICIENCY SYNDROME 2
gene_symbol: SLC2A1
disease_id: OMIM:606777
disease_name: GLUT1 DEFICIENCY SYNDROME 1
gene_symbol: SLC2A1
disease_id: OMIM:608885
disease_name: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS
gene_symbol: TJP2
disease_id: OMIM:615878
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4
gene_symbol: EPCAM
disease_id: OMIM:613217
disease_name: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
gene_symbol: TCN2
disease_id: OMIM:275350
disease_name: TRANSCOBALAMIN II DEFICIENCY
gene_symbol: RSPRY1
disease_id: OMIM:616723
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE
gene_symbol: ALG9
disease_id: OMIM:608776
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
gene_symbol: FOXP3
disease_id: OMIM:304790
disease_name: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
gene_symbol: PIGC
disease_id: OMIM:617816
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16
gene_symbol: USB1
disease_id: OMIM:604173
disease_name: POIKILODERMA WITH NEUTROPENIA
gene_symbol: FGF13
disease_id: OMIM:301058
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90
gene_symbol: TMEM67
disease_id: OMIM:216360
disease_name: COACH SYNDROME 1
gene_symbol: CTDP1
disease_id: OMIM:604168
disease_name: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
gene_symbol: JAK3
disease_id: OMIM:600802
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
gene_symbol: HEXB
disease_id: OMIM:268800
disease_name: SANDHOFF DISEASE
gene_symbol: PDHA1
disease_id: OMIM:312170
disease_name: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: CORO1A
disease_id: OMIM:615401
disease_name: IMMUNODEFICIENCY 8
gene_symbol: RPL21
disease_id: OMIM:615885
disease_name: HYPOTRICHOSIS 12
gene_symbol: DPYD
disease_id: OMIM:274270
disease_name: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
gene_symbol: NFKBIA
disease_id: OMIM:612132
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2
gene_symbol: GRIN1
disease_id: OMIM:617820
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE
gene_symbol: GRIN1
disease_id: OMIM:614254
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
gene_symbol: GNB1
disease_id: OMIM:616973
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
gene_symbol: CYP1B1
disease_id: OMIM:231300
disease_name: GLAUCOMA 3, PRIMARY CONGENITAL, A
gene_symbol: SRD5A3
disease_id: OMIM:612379
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq
gene_symbol: SRD5A3
disease_id: OMIM:612713
disease_name: KAHRIZI SYNDROME
gene_symbol: ACO2
disease_id: OMIM:614559
disease_name: INFANTILE CEREBELLAR-RETINAL DEGENERATION
gene_symbol: HIVEP2
disease_id: OMIM:616977
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
gene_symbol: HNMT
disease_id: OMIM:616739
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51
gene_symbol: IRAK4
disease_id: OMIM:607676
disease_name: IMMUNODEFICIENCY 67
gene_symbol: SLC9A7
disease_id: OMIM:301024
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108
gene_symbol: PHEX
disease_id: OMIM:307800
disease_name: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
gene_symbol: NDUFA1
disease_id: OMIM:301020
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: COQ2
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: APTX
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: PNKD
disease_id: OMIM:118800
disease_name: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
gene_symbol: SNORD118
disease_id: OMIM:614561
disease_name: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
gene_symbol: FRRS1L
disease_id: OMIM:616981
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37
gene_symbol: TBC1D8B
disease_id: OMIM:301028
disease_name: NEPHROTIC SYNDROME, TYPE 20
gene_symbol: BCORL1
disease_id: OMIM:301029
disease_name: SHUKLA-VERNON SYNDROME
gene_symbol: TNFAIP3
disease_id: OMIM:616744
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
gene_symbol: SPTAN1
disease_id: OMIM:613477
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5
gene_symbol: SPTAN1
disease_id: OMIM:620540
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY
gene_symbol: DYNC1H1
disease_id: OMIM:614563
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
gene_symbol: WWOX
disease_id: OMIM:614322
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
gene_symbol: WWOX
disease_id: OMIM:616211
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: RBCK1
disease_id: OMIM:615895
disease_name: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: ATR
disease_id: OMIM:614564
disease_name: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
gene_symbol: SMN1
disease_id: OMIM:253300
disease_name: SPINAL MUSCULAR ATROPHY, TYPE I
gene_symbol: MCEE
disease_id: OMIM:251120
disease_name: METHYLMALONYL-CoA EPIMERASE DEFICIENCY
gene_symbol: CRBN
disease_id: OMIM:607417
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
gene_symbol: TBL1X
disease_id: OMIM:301033
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8
gene_symbol: GJC2
disease_id: OMIM:613480
disease_name: LYMPHATIC MALFORMATION 3
gene_symbol: GJC2
disease_id: OMIM:608804
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 2
gene_symbol: BCS1L
disease_id: OMIM:262000
disease_name: BJORNSTAD SYNDROME
gene_symbol: SLC11A2
disease_id: OMIM:206100
disease_name: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
gene_symbol: KCNQ5
disease_id: OMIM:617601
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
gene_symbol: CIC
disease_id: OMIM:617600
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
gene_symbol: CLDN19
disease_id: OMIM:248190
disease_name: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT
gene_symbol: NTRK1
disease_id: OMIM:256800
disease_name: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
gene_symbol: COG4
disease_id: OMIM:613489
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
gene_symbol: DST
disease_id: OMIM:615425
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
gene_symbol: MAGI2
disease_id: OMIM:617609
disease_name: NEPHROTIC SYNDROME, TYPE 15
gene_symbol: AMTN
disease_id: OMIM:617607
disease_name: AMELOGENESIS IMPERFECTA, TYPE IIIB
gene_symbol: NPHP3
disease_id: OMIM:604387
disease_name: NEPHRONOPHTHISIS 3
gene_symbol: NPHP3
disease_id: OMIM:208540
disease_name: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
gene_symbol: MMAB
disease_id: OMIM:251110
disease_name: METHYLMALONIC ACIDURIA, cblB TYPE
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: SCO2
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: KRT86
disease_id: OMIM:158000
disease_name: MONILETHRIX
gene_symbol: WAS
disease_id: OMIM:301000
disease_name: WISKOTT-ALDRICH SYNDROME
gene_symbol: TRIOBP
disease_id: OMIM:609823
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 28
gene_symbol: CD19
disease_id: OMIM:613493
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 3
gene_symbol: LAGE3
disease_id: OMIM:301006
disease_name: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
gene_symbol: STXBP1
disease_id: OMIM:612164
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4
gene_symbol: LINS1
disease_id: OMIM:614340
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27
gene_symbol: MRPL3
disease_id: OMIM:614582
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9
gene_symbol: PHOX2B
disease_id: OMIM:209880
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
gene_symbol: ISCA1
disease_id: OMIM:617613
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
gene_symbol: CLTC
disease_id: OMIM:617854
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: DYRK1A
disease_id: OMIM:614104
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
gene_symbol: IFNG
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: IFNG
disease_id: OMIM:618963
disease_name: IMMUNODEFICIENCY 69
gene_symbol: TSC2
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: TSC2
disease_id: OMIM:607341
disease_name: FOCAL CORTICAL DYSPLASIA, TYPE II
gene_symbol: SH2B3
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: CALR
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: JAK2
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: MPL
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: MYT1L
disease_id: OMIM:616521
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
gene_symbol: DZIP1L
disease_id: OMIM:617610
disease_name: POLYCYSTIC KIDNEY DISEASE 5
gene_symbol: PLEKHG2
disease_id: OMIM:616763
disease_name: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
gene_symbol: AGXT
disease_id: OMIM:259900
disease_name: HYPEROXALURIA, PRIMARY, TYPE I
gene_symbol: WDR26
disease_id: OMIM:617616
disease_name: SKRABAN-DEARDORFF SYNDROME
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: IL6R
disease_id: OMIM:618944
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
gene_symbol: IL7R
disease_id: OMIM:608971
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
gene_symbol: MATN3
disease_id: OMIM:608728
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE
gene_symbol: HCRT
disease_id: OMIM:161400
disease_name: NARCOLEPSY 1
gene_symbol: TRAPPC6B
disease_id: OMIM:617862
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY
gene_symbol: TRDN
disease_id: OMIM:615441
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS
gene_symbol: TRPV3
disease_id: OMIM:614594
disease_name: OLMSTED SYNDROME 1
gene_symbol: ELAC2
disease_id: OMIM:615440
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
gene_symbol: ZSWIM6
disease_id: OMIM:617865
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: ADA2
disease_id: OMIM:182410
disease_name: SNEDDON SYNDROME
gene_symbol: AKT1
disease_id: OMIM:176920
disease_name: PROTEUS SYNDROME
gene_symbol: GRIA4
disease_id: OMIM:617864
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
gene_symbol: LMAN2L
disease_id: OMIM:617863
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69
gene_symbol: LMAN2L
disease_id: OMIM:616887
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52
gene_symbol: ZMYND10
disease_id: OMIM:615444
disease_name: CILIARY DYSKINESIA, PRIMARY, 22
gene_symbol: DAG1
disease_id: OMIM:616538
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9
gene_symbol: PHKG2
disease_id: OMIM:613027
disease_name: GLYCOGEN STORAGE DISEASE IXc
gene_symbol: CARD11
disease_id: OMIM:615206
disease_name: IMMUNODEFICIENCY 11
gene_symbol: COLQ
disease_id: OMIM:603034
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 5
gene_symbol: C12orf57
disease_id: OMIM:218340
disease_name: TEMTAMY SYNDROME
gene_symbol: ACOX1
disease_id: OMIM:264470
disease_name: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
gene_symbol: RAB27A
disease_id: OMIM:607624
disease_name: GRISCELLI SYNDROME, TYPE 2
gene_symbol: NSUN2
disease_id: OMIM:611091
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
gene_symbol: GRIK2
disease_id: OMIM:611092
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
gene_symbol: TRIT1
disease_id: OMIM:617873
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
gene_symbol: MRPS7
disease_id: OMIM:617872
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34
gene_symbol: GNE
disease_id: OMIM:269921
disease_name: SIALURIA
gene_symbol: CYC1
disease_id: OMIM:615453
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
gene_symbol: CEP104
disease_id: OMIM:616781
disease_name: JOUBERT SYNDROME 25
gene_symbol: CEP104
disease_id: OMIM:619988
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 77
gene_symbol: PIK3R1
disease_id: OMIM:615214
disease_name: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
gene_symbol: PIK3R1
disease_id: OMIM:616005
disease_name: IMMUNODEFICIENCY 36
gene_symbol: STAG1
disease_id: OMIM:617635
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47
gene_symbol: NDUFS4
disease_id: OMIM:252010
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: POU1F1
disease_id: OMIM:613038
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 1
gene_symbol: MED13L
disease_id: OMIM:616789
disease_name: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
gene_symbol: ADGRV1
disease_id: OMIM:604352
disease_name: FEBRILE SEIZURES, FAMILIAL, 4
gene_symbol: GAN
disease_id: OMIM:256850
disease_name: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE
gene_symbol: SOX6
disease_id: OMIM:618971
disease_name: TOLCHIN-LE CAIGNEC SYNDROME
gene_symbol: TMX2
disease_id: OMIM:618730
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY
gene_symbol: SLC5A6
disease_id: OMIM:618973
disease_name: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE
gene_symbol: PSMB10
disease_id: OMIM:620807
disease_name: OMIM:620807
gene_symbol: SLC25A26
disease_id: OMIM:616794
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
gene_symbol: GLUL
disease_id: OMIM:620806
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116
gene_symbol: CTC1
disease_id: OMIM:612199
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
gene_symbol: INPP5K
disease_id: OMIM:617404
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
gene_symbol: C4B
disease_id: OMIM:614379
disease_name: COMPLEMENT COMPONENT 4B DEFICIENCY
gene_symbol: MALT1
disease_id: OMIM:615468
disease_name: IMMUNODEFICIENCY 12
gene_symbol: TUBGCP2
disease_id: OMIM:618737
disease_name: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
gene_symbol: RFXANK
disease_id: OMIM:620815
disease_name: MHC CLASS II DEFICIENCY 2
gene_symbol: PIDD1
disease_id: OMIM:619827
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY
gene_symbol: ADCY3
disease_id: OMIM:617885
disease_name: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
gene_symbol: TSHB
disease_id: OMIM:275100
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4
gene_symbol: GNAS
disease_id: OMIM:103580
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IA
gene_symbol: GNAS
disease_id: OMIM:166350
disease_name: OSSEOUS HETEROPLASIA, PROGRESSIVE
gene_symbol: GLUD1
disease_id: OMIM:606762
disease_name: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6
gene_symbol: CTNS
disease_id: OMIM:219800
disease_name: CYSTINOSIS, NEPHROPATHIC
gene_symbol: IKBKB
disease_id: OMIM:615592
disease_name: IMMUNODEFICIENCY 15B
gene_symbol: GMPPB
disease_id: OMIM:615350
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
gene_symbol: GMPPB
disease_id: OMIM:615351
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: H4C9
disease_id: OMIM:619951
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4
gene_symbol: PTEN
disease_id: OMIM:605309
disease_name: MACROCEPHALY/AUTISM SYNDROME
gene_symbol: RUSC2
disease_id: OMIM:617773
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61
gene_symbol: LRIG2
disease_id: OMIM:615112
disease_name: UROFACIAL SYNDROME 2
gene_symbol: STT3A
disease_id: OMIM:615596
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw
gene_symbol: STT3A
disease_id: OMIM:619714
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT
gene_symbol: PSPH
disease_id: OMIM:614023
disease_name: PHOSPHOSERINE PHOSPHATASE DEFICIENCY
gene_symbol: TECR
disease_id: OMIM:614020
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14
gene_symbol: KCNT2
disease_id: OMIM:617771
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57
gene_symbol: EXT2
disease_id: OMIM:616682
disease_name: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME
gene_symbol: EXT2
disease_id: OMIM:133701
disease_name: EXOSTOSES, MULTIPLE, TYPE II
gene_symbol: NFU1
disease_id: OMIM:620938
disease_name: OMIM:620938
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: TAF2
disease_id: OMIM:615599
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
gene_symbol: KCNN4
disease_id: OMIM:616689
disease_name: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2
gene_symbol: GRID2
disease_id: OMIM:616204
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
gene_symbol: IL17RC
disease_id: OMIM:616445
disease_name: CANDIDIASIS, FAMILIAL, 9
gene_symbol: NAA20
disease_id: OMIM:619717
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73
gene_symbol: BRF1
disease_id: OMIM:616202
disease_name: CEREBELLOFACIODENTAL SYNDROME
gene_symbol: SERPINB7
disease_id: OMIM:615598
disease_name: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE
gene_symbol: PNP
disease_id: OMIM:613179
disease_name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
gene_symbol: COX15
disease_id: OMIM:615119
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6
gene_symbol: COX15
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: MED25
disease_id: OMIM:616449
disease_name: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
gene_symbol: KITLG
disease_id: OMIM:145250
disease_name: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE
gene_symbol: CFAP410
disease_id: OMIM:602271
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL
gene_symbol: WDR73
disease_id: OMIM:251300
disease_name: GALLOWAY-MOWAT SYNDROME 1
gene_symbol: ABCC9
disease_id: OMIM:619719
disease_name: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
gene_symbol: TSPYL1
disease_id: OMIM:608800
disease_name: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME
gene_symbol: GRHPR
disease_id: OMIM:260000
disease_name: HYPEROXALURIA, PRIMARY, TYPE II
gene_symbol: MTHFD1
disease_id: OMIM:617780
disease_name: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
gene_symbol: H3-3B
disease_id: OMIM:619721
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2
gene_symbol: DCC
disease_id: OMIM:617542
disease_name: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: DCC
disease_id: OMIM:157600
disease_name: MIRROR MOVEMENTS 1
gene_symbol: PIGK
disease_id: OMIM:618879
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES
gene_symbol: KMT5B
disease_id: OMIM:617788
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
gene_symbol: CAD
disease_id: OMIM:616457
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50
gene_symbol: CHD2
disease_id: OMIM:615369
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94
gene_symbol: GFAP
disease_id: OMIM:203450
disease_name: ALEXANDER DISEASE
gene_symbol: VPS33A
disease_id: OMIM:617303
disease_name: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
gene_symbol: ATP6V1B2
disease_id: OMIM:616455
disease_name: ZIMMERMANN-LABAND SYNDROME 2
gene_symbol: YME1L1
disease_id: OMIM:617302
disease_name: OPTIC ATROPHY 11
gene_symbol: ARFGEF1
disease_id: OMIM:619964
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
gene_symbol: ACOX2
disease_id: OMIM:617308
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
gene_symbol: EIF2AK2
disease_id: OMIM:618877
disease_name: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
gene_symbol: TMEM63C
disease_id: OMIM:619966
disease_name: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE
gene_symbol: DCDC2
disease_id: OMIM:616217
disease_name: NEPHRONOPHTHISIS 19
gene_symbol: DCDC2
disease_id: OMIM:617394
disease_name: SCLEROSING CHOLANGITIS, NEONATAL
gene_symbol: EIF2AK1
disease_id: OMIM:618878
disease_name: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME
gene_symbol: KCNN2
disease_id: OMIM:619725
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES
gene_symbol: CYP2R1
disease_id: OMIM:600081
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
gene_symbol: PEX1
disease_id: OMIM:234580
disease_name: HEIMLER SYNDROME 1
gene_symbol: TRPM6
disease_id: OMIM:602014
disease_name: HYPOMAGNESEMIA 1, INTESTINAL
gene_symbol: SLC35A1
disease_id: OMIM:603585
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf
gene_symbol: TRAPPC9
disease_id: OMIM:613192
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
gene_symbol: ATP6V0A1
disease_id: OMIM:619971
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY
gene_symbol: ATP6V0A1
disease_id: OMIM:619970
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104
gene_symbol: RINT1
disease_id: OMIM:618641
disease_name: INFANTILE LIVER FAILURE SYNDROME 3
gene_symbol: TAF8
disease_id: OMIM:619972
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY
gene_symbol: ASH1L
disease_id: OMIM:617796
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
gene_symbol: PUM1
disease_id: OMIM:620719
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
gene_symbol: CRB2
disease_id: OMIM:616220
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9
gene_symbol: FLNB
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: GZF1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PIEZO2
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: SKI
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: SKI
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: CANT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: KIF22
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CSGALNACT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CAMK2B
disease_id: OMIM:617799
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
gene_symbol: ZNF408
disease_id: OMIM:616468
disease_name: EXUDATIVE VITREORETINOPATHY 6
gene_symbol: COL6A2
disease_id: OMIM:620727
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B
gene_symbol: COL6A2
disease_id: OMIM:620725
disease_name: BETHLEM MYOPATHY 1B
gene_symbol: ANKH
disease_id: OMIM:123000
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: RSRC1
disease_id: OMIM:618402
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70
gene_symbol: ABHD16A
disease_id: OMIM:619735
disease_name: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE
gene_symbol: ALG2
disease_id: OMIM:616228
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 14
gene_symbol: ALG2
disease_id: OMIM:607906
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
gene_symbol: MMP14
disease_id: OMIM:277950
disease_name: WINCHESTER SYNDROME
gene_symbol: CERS1
disease_id: OMIM:616230
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 8
gene_symbol: ANKS6
disease_id: OMIM:615382
disease_name: NEPHRONOPHTHISIS 16
gene_symbol: NKX6-2
disease_id: OMIM:617560
disease_name: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: GH1
disease_id: OMIM:262400
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA
gene_symbol: HID1
disease_id: OMIM:619983
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM
gene_symbol: COL12A1
disease_id: OMIM:616470
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2
gene_symbol: POLRMT
disease_id: OMIM:619743
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
gene_symbol: SPTBN2
disease_id: OMIM:615386
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
gene_symbol: SPTBN2
disease_id: OMIM:600224
disease_name: SPINOCEREBELLAR ATAXIA 5
gene_symbol: MCM5
disease_id: OMIM:617564
disease_name: MEIER-GORLIN SYNDROME 8
gene_symbol: TRAC
disease_id: OMIM:615387
disease_name: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
gene_symbol: BOLA3
disease_id: OMIM:614299
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: SPRED2
disease_id: OMIM:619745
disease_name: NOONAN SYNDROME 14
gene_symbol: NARS2
disease_id: OMIM:616239
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
gene_symbol: THUMPD1
disease_id: OMIM:619989
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES
gene_symbol: PI4K2A
disease_id: OMIM:620732
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: SLC25A42
disease_id: OMIM:618416
disease_name: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION
gene_symbol: PRRT2
disease_id: OMIM:605751
disease_name: SEIZURES, BENIGN FAMILIAL INFANTILE, 2
gene_symbol: MFN2
disease_id: OMIM:601152
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY
gene_symbol: HCN2
disease_id: OMIM:602477
disease_name: FEBRILE SEIZURES, FAMILIAL, 2
gene_symbol: EBF3
disease_id: OMIM:617330
disease_name: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
gene_symbol: TOM1
disease_id: OMIM:619510
disease_name: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY
gene_symbol: IL6ST
disease_id: OMIM:619752
disease_name: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: IL6ST
disease_id: OMIM:619750
disease_name: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES
gene_symbol: SMG9
disease_id: OMIM:619995
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES
gene_symbol: COL27A1
disease_id: OMIM:615155
disease_name: STEEL SYNDROME
gene_symbol: SGPL1
disease_id: OMIM:617575
disease_name: NEPHROTIC SYNDROME, TYPE 14
gene_symbol: PIGT
disease_id: OMIM:615398
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
gene_symbol: SLC34A3
disease_id: OMIM:241530
disease_name: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
gene_symbol: MRPL44
disease_id: OMIM:615395
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: UQCRQ
disease_id: OMIM:615159
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: CLCN3
disease_id: OMIM:619517
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: PDGFRB
disease_id: OMIM:228550
disease_name: MYOFIBROMATOSIS, INFANTILE, 1
gene_symbol: CALM1
disease_id: OMIM:616247
disease_name: LONG QT SYNDROME 14
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
gene_symbol: CADM3
disease_id: OMIM:619519
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF
gene_symbol: DEPDC5
disease_id: OMIM:620504
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111
gene_symbol: DHX9
disease_id: OMIM:620988
disease_name: OMIM:620988
gene_symbol: UQCRB
disease_id: OMIM:615158
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: PRDM12
disease_id: OMIM:616488
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII
gene_symbol: GABBR1
disease_id: OMIM:620502
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES
gene_symbol: ZNF142
disease_id: OMIM:618425
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS
gene_symbol: GCH1
disease_id: OMIM:233910
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
gene_symbol: MDH2
disease_id: OMIM:617339
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51
gene_symbol: IKBKG
disease_id: OMIM:301081
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED
gene_symbol: IKBKG
disease_id: OMIM:300636
disease_name: IMMUNODEFICIENCY 33
gene_symbol: ETHE1
disease_id: OMIM:602473
disease_name: ENCEPHALOPATHY, ETHYLMALONIC
gene_symbol: MMAA
disease_id: OMIM:251100
disease_name: METHYLMALONIC ACIDURIA, cblA TYPE
gene_symbol: PRF1
disease_id: OMIM:603553
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
gene_symbol: STX11
disease_id: OMIM:603552
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4
gene_symbol: POLR1C
disease_id: OMIM:616494
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 11
gene_symbol: HPS5
disease_id: OMIM:614074
disease_name: HERMANSKY-PUDLAK SYNDROME 5
gene_symbol: HCN4
disease_id: OMIM:619521
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18
gene_symbol: ZMYM2
disease_id: OMIM:619522
disease_name: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
gene_symbol: RELB
disease_id: OMIM:617585
disease_name: IMMUNODEFICIENCY 53
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
gene_symbol: ATG5
disease_id: OMIM:617584
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25
gene_symbol: CNOT3
disease_id: OMIM:618672
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES
gene_symbol: PRDM13
disease_id: OMIM:619761
disease_name: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: TCF20
disease_id: OMIM:618430
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
gene_symbol: CACNA1A
disease_id: OMIM:617106
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42
gene_symbol: RPE65
disease_id: OMIM:204100
disease_name: LEBER CONGENITAL AMAUROSIS 2
gene_symbol: SNAPC4
disease_id: OMIM:620515
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION
gene_symbol: SLC1A2
disease_id: OMIM:617105
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41
gene_symbol: APC2
disease_id: OMIM:618677
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10
gene_symbol: APC2
disease_id: OMIM:617169
disease_name: SOTOS SYNDROME 3
gene_symbol: SCAF4
disease_id: OMIM:620511
disease_name: FLIEDNER-ZWEIER SYNDROME
gene_symbol: TCEAL1
disease_id: OMIM:301094
disease_name: HIJAZI-REIS SYNDROME
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: PTRH2
disease_id: OMIM:616263
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: LIG1
disease_id: OMIM:619774
disease_name: IMMUNODEFICIENCY 96
gene_symbol: SCN1B
disease_id: OMIM:617350
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52
gene_symbol: FANCL
disease_id: OMIM:614083
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP L
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: TRIP13
disease_id: OMIM:617598
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3
gene_symbol: PIGW
disease_id: OMIM:616025
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
gene_symbol: GABRB3
disease_id: OMIM:617113
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43
gene_symbol: PPP1R13L
disease_id: OMIM:620519
disease_name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
gene_symbol: SLC30A9
disease_id: OMIM:617595
disease_name: BIRK-LANDAU-PEREZ SYNDROME
gene_symbol: JAGN1
disease_id: OMIM:616022
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
gene_symbol: GRHL2
disease_id: OMIM:616029
disease_name: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
gene_symbol: SLC6A17
disease_id: OMIM:616269
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
gene_symbol: GGT1
disease_id: OMIM:231950
disease_name: GLUTATHIONURIA
gene_symbol: PIGP
disease_id: OMIM:617599
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55
gene_symbol: SERPINB8
disease_id: OMIM:617115
disease_name: PEELING SKIN SYNDROME 5
gene_symbol: CHD3
disease_id: OMIM:618205
disease_name: SNIJDERS BLOK-CAMPEAU SYNDROME
gene_symbol: PLCE1
disease_id: OMIM:610725
disease_name: NEPHROTIC SYNDROME, TYPE 3
gene_symbol: DCLRE1C
disease_id: OMIM:602450
disease_name: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
gene_symbol: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV
gene_symbol: KCNH1
disease_id: OMIM:611816
disease_name: TEMPLE-BARAITSER SYNDROME
gene_symbol: TLR8
disease_id: OMIM:301078
disease_name: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED
gene_symbol: SH3TC2
disease_id: OMIM:601596
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: ANOS1
disease_id: OMIM:308700
disease_name: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA
gene_symbol: B3GALNT2
disease_id: OMIM:615181
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: AARS2
disease_id: OMIM:614096
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
gene_symbol: B9D1
disease_id: OMIM:617120
disease_name: JOUBERT SYNDROME 27
gene_symbol: ABCD3
disease_id: OMIM:616278
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5
gene_symbol: COQ4
disease_id: OMIM:616276
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 7
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
gene_symbol: IREB2
disease_id: OMIM:618451
disease_name: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
gene_symbol: KCNH5
disease_id: OMIM:620537
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112
gene_symbol: NSUN6
disease_id: OMIM:620779
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82
gene_symbol: U2AF2
disease_id: OMIM:620535
disease_name: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
gene_symbol: EXOC2
disease_id: OMIM:619306
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
gene_symbol: SRP68
disease_id: OMIM:620534
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE
gene_symbol: SYT1
disease_id: OMIM:618218
disease_name: BAKER-GORDON SYNDROME
gene_symbol: STAT6
disease_id: OMIM:620532
disease_name: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: SLC32A1
disease_id: OMIM:620774
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114
gene_symbol: PIGA
disease_id: OMIM:301072
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: AP1S2
disease_id: OMIM:304340
disease_name: PETTIGREW SYNDROME
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: SV2A
disease_id: OMIM:620772
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113
gene_symbol: HAX1
disease_id: OMIM:610738
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE
gene_symbol: HNF1A
disease_id: OMIM:600496
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3
gene_symbol: GPT2
disease_id: OMIM:616281
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY
gene_symbol: TINF2
disease_id: OMIM:268130
disease_name: REVESZ SYNDROME
gene_symbol: UBA5
disease_id: OMIM:617132
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44
gene_symbol: HDAC4
disease_id: OMIM:619797
disease_name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: NDUFV1
disease_id: OMIM:618225
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: TNPO2
disease_id: OMIM:619556
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES
gene_symbol: LRRK1
disease_id: OMIM:615198
disease_name: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA
gene_symbol: POLR3K
disease_id: OMIM:619310
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 21
gene_symbol: SLC31A1
disease_id: OMIM:620306
disease_name: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
gene_symbol: NDUFS1
disease_id: OMIM:618226
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: COG3
disease_id: OMIM:620546
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb
gene_symbol: ZNF407
disease_id: OMIM:619557
disease_name: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
gene_symbol: FOSL2
disease_id: OMIM:620789
disease_name: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME
gene_symbol: NDUFS2
disease_id: OMIM:618228
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
gene_symbol: NAA60
disease_id: OMIM:620786
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE
gene_symbol: NDUFV2
disease_id: OMIM:618229
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
gene_symbol: CFI
disease_id: OMIM:610984
disease_name: COMPLEMENT FACTOR I DEFICIENCY
gene_symbol: HADHB
disease_id: OMIM:620300
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2
gene_symbol: IL2RG
disease_id: OMIM:312863
disease_name: COMBINED IMMUNODEFICIENCY, X-LINKED
gene_symbol: IL2RG
disease_id: OMIM:300400
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
gene_symbol: CAPRIN1
disease_id: OMIM:620782
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER
gene_symbol: EFEMP1
disease_id: OMIM:620780
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID
gene_symbol: EFEMP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: C3
disease_id: OMIM:612925
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
gene_symbol: C3
disease_id: OMIM:613779
disease_name: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
gene_symbol: ACTL6B
disease_id: OMIM:618470
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS
gene_symbol: COL11A1
disease_id: OMIM:604841
disease_name: STICKLER SYNDROME, TYPE II
gene_symbol: CYBB
disease_id: OMIM:300645
disease_name: IMMUNODEFICIENCY 34
gene_symbol: SLC5A7
disease_id: OMIM:617143
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
gene_symbol: CAST
disease_id: OMIM:616295
disease_name: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
gene_symbol: SLC2A2
disease_id: OMIM:227810
disease_name: FANCONI-BICKEL SYNDROME
gene_symbol: NDUFAF1
disease_id: OMIM:618234
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: JAG2
disease_id: OMIM:619566
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27
gene_symbol: NDUFA2
disease_id: OMIM:618235
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13
gene_symbol: ALG13
disease_id: OMIM:300884
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36
gene_symbol: SON
disease_id: OMIM:617140
disease_name: ZTTK SYNDROME
gene_symbol: SYNJ1
disease_id: OMIM:617389
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53
gene_symbol: LIPT1
disease_id: OMIM:616299
disease_name: LIPOYLTRANSFERASE 1 DEFICIENCY
gene_symbol: CELF2
disease_id: OMIM:619561
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97
gene_symbol: NLRP1
disease_id: OMIM:617388
disease_name: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
gene_symbol: KDM4B
disease_id: OMIM:619320
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65
gene_symbol: KCNB1
disease_id: OMIM:616056
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26
gene_symbol: WARS1
disease_id: OMIM:620317
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES
gene_symbol: EIF2B5
disease_id: OMIM:620315
disease_name: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5
gene_symbol: AXIN1
disease_id: OMIM:620558
disease_name: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA
gene_symbol: CAMSAP1
disease_id: OMIM:620316
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12
gene_symbol: NDUFAF6
disease_id: OMIM:618239
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
gene_symbol: CLDN11
disease_id: OMIM:619328
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 22
gene_symbol: KLK4
disease_id: OMIM:204700
disease_name: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: SHARPIN
disease_id: OMIM:620795
disease_name: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
gene_symbol: SNUPN
disease_id: OMIM:620793
disease_name: OMIM:620793
gene_symbol: ERCC1
disease_id: OMIM:610758
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 4
gene_symbol: SMC3
disease_id: OMIM:610759
disease_name: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: L2HGDH
disease_id: OMIM:236792
disease_name: L-2-HYDROXYGLUTARIC ACIDURIA
gene_symbol: ST3GAL5
disease_id: OMIM:609056
disease_name: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME
gene_symbol: SLC25A15
disease_id: OMIM:238970
disease_name: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
gene_symbol: OTUD7A
disease_id: OMIM:620790
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
gene_symbol: DHPS
disease_id: OMIM:618480
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT
gene_symbol: HNRNPU
disease_id: OMIM:617391
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54
gene_symbol: NDUFA12
disease_id: OMIM:618244
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23
gene_symbol: GEMIN5
disease_id: OMIM:619333
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION
gene_symbol: MYH3
disease_id: OMIM:193700
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2A
gene_symbol: NDUFB9
disease_id: OMIM:618245
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24
gene_symbol: EXOSC5
disease_id: OMIM:619576
disease_name: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
gene_symbol: PDZD7
disease_id: OMIM:618003
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 57
gene_symbol: COG2
disease_id: OMIM:617395
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq
gene_symbol: GABRB1
disease_id: OMIM:617153
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45
gene_symbol: RHOBTB2
disease_id: OMIM:618004
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64
gene_symbol: NACC1
disease_id: OMIM:617393
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
gene_symbol: NDUFAF3
disease_id: OMIM:618240
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
gene_symbol: GJB3
disease_id: OMIM:133200
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: AEBP1
disease_id: OMIM:618000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
gene_symbol: AEBP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: IRF8
disease_id: OMIM:226990
disease_name: IMMUNODEFICIENCY 32B
gene_symbol: NDUFA10
disease_id: OMIM:618243
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
gene_symbol: TPM2
disease_id: OMIM:609285
disease_name: NEMALINE MYOPATHY 4
gene_symbol: ARHGEF9
disease_id: OMIM:300607
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8
gene_symbol: RPGRIP1
disease_id: OMIM:608194
disease_name: CONE-ROD DYSTROPHY 13
gene_symbol: RPGRIP1
disease_id: OMIM:613826
disease_name: LEBER CONGENITAL AMAUROSIS 6
gene_symbol: BRD4
disease_id: OMIM:620568
disease_name: CORNELIA DE LANGE SYNDROME 6
gene_symbol: MTFMT
disease_id: OMIM:618248
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
gene_symbol: AIMP2
disease_id: OMIM:618006
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 17
gene_symbol: NDUFA13
disease_id: OMIM:618249
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
gene_symbol: FAR1
disease_id: OMIM:619338
disease_name: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
gene_symbol: ARPC5
disease_id: OMIM:620565
disease_name: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
gene_symbol: PMPCA
disease_id: OMIM:213200
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2
gene_symbol: DOLK
disease_id: OMIM:610768
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im
gene_symbol: AGK
disease_id: OMIM:212350
disease_name: SENGERS SYNDROME
gene_symbol: SLC25A12
disease_id: OMIM:612949
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39
gene_symbol: HMGCS2
disease_id: OMIM:605911
disease_name: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY
gene_symbol: CDH3
disease_id: OMIM:601553
disease_name: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
gene_symbol: PUS1
disease_id: OMIM:600462
disease_name: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
gene_symbol: DYNC1I2
disease_id: OMIM:618492
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: UBE2A
disease_id: OMIM:300860
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
gene_symbol: ADAMTS2
disease_id: OMIM:225410
disease_name: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
gene_symbol: CACNA1B
disease_id: OMIM:618497
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS
gene_symbol: LYSET
disease_id: OMIM:619345
disease_name: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
gene_symbol: CEBPE
disease_id: OMIM:245480
disease_name: SPECIFIC GRANULE DEFICIENCY 1
gene_symbol: CLPX
disease_id: OMIM:618015
disease_name: PROTOPORPHYRIA, ERYTHROPOIETIC, 2
gene_symbol: KAT6B
disease_id: OMIM:603736
disease_name: OHDO SYNDROME, SBBYS VARIANT
gene_symbol: GRIN2D
disease_id: OMIM:617162
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46
gene_symbol: EIF2AK3
disease_id: OMIM:226980
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
gene_symbol: TIMMDC1
disease_id: OMIM:618251
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31
gene_symbol: P4HTM
disease_id: OMIM:618493
disease_name: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
gene_symbol: NDUFB8
disease_id: OMIM:618252
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
gene_symbol: MANBA
disease_id: OMIM:248510
disease_name: MANNOSIDOSIS, BETA A, LYSOSOMAL
gene_symbol: NDUFA6
disease_id: OMIM:618253
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
gene_symbol: SETBP1
disease_id: OMIM:616078
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
gene_symbol: IL2RB
disease_id: OMIM:618495
disease_name: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: ATP6V1A
disease_id: OMIM:618012
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93
gene_symbol: FGF12
disease_id: OMIM:617166
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47
gene_symbol: RNASET2
disease_id: OMIM:612951
disease_name: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
gene_symbol: SAMHD1
disease_id: OMIM:612952
disease_name: AICARDI-GOUTIERES SYNDROME 5
gene_symbol: SAMHD1
disease_id: OMIM:614415
disease_name: CHILBLAIN LUPUS 2
gene_symbol: STS
disease_id: OMIM:308100
disease_name: ICHTHYOSIS, X-LINKED
gene_symbol: DPP9
disease_id: OMIM:620331
disease_name: HATIPOGLU IMMUNODEFICIENCY SYNDROME
gene_symbol: COX4I2
disease_id: OMIM:612714
disease_name: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS
gene_symbol: SPR
disease_id: OMIM:612716
disease_name: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: CCDC39
disease_id: OMIM:613807
disease_name: CILIARY DYSKINESIA, PRIMARY, 14
gene_symbol: GATM
disease_id: OMIM:612718
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
gene_symbol: DAW1
disease_id: OMIM:620570
disease_name: CILIARY DYSKINESIA, PRIMARY, 52
gene_symbol: ZMYND11
disease_id: OMIM:616083
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30
gene_symbol: EXOSC8
disease_id: OMIM:616081
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
gene_symbol: RPGRIP1L
disease_id: OMIM:619113
disease_name: COACH SYNDROME 3
gene_symbol: ACADVL
disease_id: OMIM:201475
disease_name: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: PINK1
disease_id: OMIM:605909
disease_name: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: PTCHD1
disease_id: OMIM:300830
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
gene_symbol: DPF2
disease_id: OMIM:618027
disease_name: COFFIN-SIRIS SYNDROME 7
gene_symbol: TRNT1
disease_id: OMIM:616084
disease_name: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
gene_symbol: GNB5
disease_id: OMIM:617173
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
gene_symbol: GNB5
disease_id: OMIM:617182
disease_name: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
gene_symbol: ACADS
disease_id: OMIM:201470
disease_name: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
gene_symbol: SRCAP
disease_id: OMIM:619595
disease_name: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: KPNA3
disease_id: OMIM:620106
disease_name: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT
gene_symbol: SEPSECS
disease_id: OMIM:613811
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
gene_symbol: ATP7A
disease_id: OMIM:309400
disease_name: MENKES DISEASE
gene_symbol: POMK
disease_id: OMIM:616094
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
gene_symbol: ATAD3A
disease_id: OMIM:617183
disease_name: HAREL-YOON SYNDROME
gene_symbol: GAD1
disease_id: OMIM:619124
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89
gene_symbol: BCL10
disease_id: OMIM:616098
disease_name: IMMUNODEFICIENCY 37
gene_symbol: SEC23B
disease_id: OMIM:224100
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II
gene_symbol: YIF1B
disease_id: OMIM:619125
disease_name: KAYA-BARAKAT-MASSON SYNDROME
gene_symbol: NAXE
disease_id: OMIM:617186
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1
gene_symbol: TET2
disease_id: OMIM:619126
disease_name: IMMUNODEFICIENCY 75
gene_symbol: MTX2
disease_id: OMIM:619127
disease_name: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME
gene_symbol: ANGPT2
disease_id: OMIM:619369
disease_name: LYMPHATIC MALFORMATION 10
gene_symbol: SLC16A1
disease_id: OMIM:616095
disease_name: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
gene_symbol: MAST1
disease_id: OMIM:618273
disease_name: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS
gene_symbol: AGTPBP1
disease_id: OMIM:618276
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
gene_symbol: MBOAT7
disease_id: OMIM:617188
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57
gene_symbol: ALDOA
disease_id: OMIM:611881
disease_name: GLYCOGEN STORAGE DISEASE XII
gene_symbol: MAST3
disease_id: OMIM:620115
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108
gene_symbol: ATP5F1A
disease_id: OMIM:620358
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A
gene_symbol: CACNA1I
disease_id: OMIM:620114
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES
gene_symbol: HADHA
disease_id: OMIM:609015
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: GAMT
disease_id: OMIM:612736
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
gene_symbol: MMP13
disease_id: OMIM:250400
disease_name: METAPHYSEAL DYSPLASIA, SPAHR TYPE
gene_symbol: CRX
disease_id: OMIM:613829
disease_name: LEBER CONGENITAL AMAUROSIS 7
gene_symbol: RPL3L
disease_id: OMIM:619371
disease_name: CARDIOMYOPATHY, DILATED, 2D
gene_symbol: TBCD
disease_id: OMIM:617193
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
gene_symbol: SLC18A2
disease_id: OMIM:618049
disease_name: PARKINSONISM-DYSTONIA, INFANTILE, 2
gene_symbol: GPR143
disease_id: OMIM:300814
disease_name: NYSTAGMUS 6, CONGENITAL, X-LINKED
gene_symbol: NCDN
disease_id: OMIM:619373
disease_name: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS
gene_symbol: OAS1
disease_id: OMIM:618042
disease_name: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA
gene_symbol: SLURP1
disease_id: OMIM:248300
disease_name: MAL DE MELEDA
gene_symbol: ADA
disease_id: OMIM:102700
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
gene_symbol: NAGA
disease_id: OMIM:609241
disease_name: SCHINDLER DISEASE, TYPE I
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: CRB1
disease_id: OMIM:613835
disease_name: LEBER CONGENITAL AMAUROSIS 8
gene_symbol: BCKDK
disease_id: OMIM:614923
disease_name: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
gene_symbol: EARS2
disease_id: OMIM:614924
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
gene_symbol: DOCK3
disease_id: OMIM:618292
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
gene_symbol: TLK2
disease_id: OMIM:618050
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
gene_symbol: RECQL
disease_id: OMIM:620370
disease_name: RECON PROGEROID SYNDROME
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
gene_symbol: ALPK3
disease_id: OMIM:618052
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27
gene_symbol: PHKB
disease_id: OMIM:261750
disease_name: GLYCOGEN STORAGE DISEASE IXb
gene_symbol: NTN1
disease_id: OMIM:157600
disease_name: MIRROR MOVEMENTS 1
gene_symbol: CD55
disease_id: OMIM:226300
disease_name: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
gene_symbol: VPS41
disease_id: OMIM:619389
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29
gene_symbol: AGO2
disease_id: OMIM:619149
disease_name: LESSEL-KREIENKAMP SYNDROME
gene_symbol: EIF3F
disease_id: OMIM:618295
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67
gene_symbol: BRAT1
disease_id: OMIM:618056
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
gene_symbol: BRAT1
disease_id: OMIM:614498
disease_name: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
gene_symbol: AIFM1
disease_id: OMIM:300816
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
gene_symbol: PNPT1
disease_id: OMIM:614932
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
gene_symbol: RNASEH2A
disease_id: OMIM:610333
disease_name: AICARDI-GOUTIERES SYNDROME 4
gene_symbol: AMFR
disease_id: OMIM:620379
disease_name: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE
gene_symbol: TULP1
disease_id: OMIM:613843
disease_name: LEBER CONGENITAL AMAUROSIS 15
gene_symbol: MLIP
disease_id: OMIM:620138
disease_name: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS
gene_symbol: MAFB
disease_id: OMIM:166300
disease_name: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
gene_symbol: SARS2
disease_id: OMIM:613845
disease_name: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
gene_symbol: DCLRE1B
disease_id: OMIM:620133
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8
gene_symbol: HMGCR
disease_id: OMIM:620375
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28
gene_symbol: HIBCH
disease_id: OMIM:250620
disease_name: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY
gene_symbol: CYB561
disease_id: OMIM:618182
disease_name: ORTHOSTATIC HYPOTENSION 2
gene_symbol: NDUFA8
disease_id: OMIM:619272
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37
gene_symbol: ALG14
disease_id: OMIM:619031
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES
gene_symbol: MPZ
disease_id: OMIM:618184
disease_name: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
gene_symbol: MPZ
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: SLITRK6
disease_id: OMIM:221200
disease_name: DEAFNESS AND MYOPIA
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: ERF
disease_id: OMIM:600775
disease_name: CRANIOSYNOSTOSIS 4
gene_symbol: BCAP31
disease_id: OMIM:300475
disease_name: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION
gene_symbol: ADSL
disease_id: OMIM:103050
disease_name: ADENYLOSUCCINASE DEFICIENCY
gene_symbol: PPCS
disease_id: OMIM:618189
disease_name: CARDIOMYOPATHY, DILATED, 2C
gene_symbol: YIPF5
disease_id: OMIM:619278
disease_name: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2
gene_symbol: OTULIN
disease_id: OMIM:617099
disease_name: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME
gene_symbol: COX10
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX10
disease_id: OMIM:619046
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: MT-TS1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: MT-TN
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SCO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: FASTKD2
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: TACO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SURF1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX6B1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: DDHD1
disease_id: OMIM:609340
disease_name: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE
gene_symbol: CACNA1C
disease_id: OMIM:620029
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
gene_symbol: SLC35B2
disease_id: OMIM:620269
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA
gene_symbol: UFSP2
disease_id: OMIM:620028
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106
gene_symbol: UFSP2
disease_id: OMIM:617974
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
gene_symbol: NFIA
disease_id: OMIM:613735
disease_name: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS
gene_symbol: CHKA
disease_id: OMIM:620023
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES
gene_symbol: PCNA
disease_id: OMIM:615919
disease_name: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
gene_symbol: PDZD8
disease_id: OMIM:620021
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES
gene_symbol: VARS2
disease_id: OMIM:615917
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
gene_symbol: TARS2
disease_id: OMIM:615918
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21
gene_symbol: PIK3CD
disease_id: OMIM:619281
disease_name: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE
gene_symbol: UBE3C
disease_id: OMIM:620270
disease_name: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES
gene_symbol: HEXA
disease_id: OMIM:272800
disease_name: TAY-SACHS DISEASE
gene_symbol: SVIL
disease_id: OMIM:619040
disease_name: MYOFIBRILLAR MYOPATHY 10
gene_symbol: GARS1
disease_id: OMIM:619042
disease_name: SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE
gene_symbol: OPHN1
disease_id: OMIM:300486
disease_name: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
gene_symbol: EPHB4
disease_id: OMIM:618196
disease_name: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
gene_symbol: SLC25A1
disease_id: OMIM:618197
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
gene_symbol: CD79A
disease_id: OMIM:613501
disease_name: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE
gene_symbol: IGLL1
disease_id: OMIM:613500
disease_name: AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE
gene_symbol: GRM1
disease_id: OMIM:614831
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13
gene_symbol: SLC1A3
disease_id: OMIM:612656
disease_name: EPISODIC ATAXIA, TYPE 6
gene_symbol: BLNK
disease_id: OMIM:613502
disease_name: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE
gene_symbol: NAPB
disease_id: OMIM:620033
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107
gene_symbol: COX11
disease_id: OMIM:620275
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23
gene_symbol: TYMS
disease_id: OMIM:620040
disease_name: DYSKERATOSIS CONGENITA, DIGENIC
gene_symbol: FYB1
disease_id: OMIM:273900
disease_name: THROMBOCYTOPENIA 3
gene_symbol: GRIA3
disease_id: OMIM:300699
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE
gene_symbol: PET100
disease_id: OMIM:619055
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: SETD1A
disease_id: OMIM:619056
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES
gene_symbol: TGFBI
disease_id: OMIM:608470
disease_name: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
gene_symbol: TK2
disease_id: OMIM:609560
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
gene_symbol: AHCY
disease_id: OMIM:613752
disease_name: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
gene_symbol: SKIC2
disease_id: OMIM:614602
disease_name: TRICHOHEPATOENTERIC SYNDROME 2
gene_symbol: BTD
disease_id: OMIM:253260
disease_name: BIOTINIDASE DEFICIENCY
gene_symbol: STING1
disease_id: OMIM:615934
disease_name: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
gene_symbol: ACADSB
disease_id: OMIM:610006
disease_name: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: PTF1A
disease_id: OMIM:615935
disease_name: PANCREATIC AGENESIS 2
gene_symbol: RAG1
disease_id: OMIM:233650
disease_name: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
gene_symbol: RAG2
disease_id: OMIM:233650
disease_name: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
gene_symbol: TBR1
disease_id: OMIM:606053
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
gene_symbol: DUT
disease_id: OMIM:620044
disease_name: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME
gene_symbol: ALG12
disease_id: OMIM:607143
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig
gene_symbol: AGO1
disease_id: OMIM:620292
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
gene_symbol: ABCB7
disease_id: OMIM:301310
disease_name: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
gene_symbol: COX6A2
disease_id: OMIM:619062
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18
gene_symbol: SUCLG1
disease_id: OMIM:245400
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
gene_symbol: COX5A
disease_id: OMIM:619064
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20
gene_symbol: GLYCTK
disease_id: OMIM:220120
disease_name: D-GLYCERIC ACIDURIA
gene_symbol: TRIM37
disease_id: OMIM:253250
disease_name: MULIBREY NANISM
gene_symbol: METTL23
disease_id: OMIM:615942
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44
gene_symbol: TUBB4A
disease_id: OMIM:612438
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 6
gene_symbol: FCGR3A
disease_id: OMIM:615707
disease_name: IMMUNODEFICIENCY 20
gene_symbol: CPLANE1
disease_id: OMIM:614615
disease_name: JOUBERT SYNDROME 17
gene_symbol: FYCO1
disease_id: OMIM:610019
disease_name: CATARACT 18
gene_symbol: ELANE
disease_id: OMIM:202700
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
gene_symbol: GUCY2C
disease_id: OMIM:614616
disease_name: DIARRHEA 6
gene_symbol: RUBCN
disease_id: OMIM:615705
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
gene_symbol: ALDH5A1
disease_id: OMIM:271980
disease_name: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: PLXND1
disease_id: OMIM:620294
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9
gene_symbol: EXOC7
disease_id: OMIM:619072
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
gene_symbol: DPH2
disease_id: OMIM:620062
disease_name: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2
gene_symbol: ASPA
disease_id: OMIM:271900
disease_name: CANAVAN DISEASE
gene_symbol: CDKL5
disease_id: OMIM:300672
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2
gene_symbol: PC
disease_id: OMIM:266150
disease_name: PYRUVATE CARBOXYLASE DEFICIENCY
gene_symbol: HSD17B10
disease_id: OMIM:300438
disease_name: HSD10 MITOCHONDRIAL DISEASE
gene_symbol: KRT5
disease_id: OMIM:131960
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION
gene_symbol: GGCX
disease_id: OMIM:277450
disease_name: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
gene_symbol: STAT3
disease_id: OMIM:615952
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: AIMP1
disease_id: OMIM:260600
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 3
gene_symbol: PEX2
disease_id: OMIM:614867
disease_name: PEROXISOME BIOGENESIS DISORDER 5B
gene_symbol: ERCC5
disease_id: OMIM:278780
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
gene_symbol: SPEG
disease_id: OMIM:615959
disease_name: MYOPATHY, CENTRONUCLEAR, 5
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: REST
disease_id: OMIM:616806
disease_name: WILMS TUMOR 6
gene_symbol: STK4
disease_id: OMIM:614868
disease_name: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS
gene_symbol: PGAP3
disease_id: OMIM:615716
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
gene_symbol: SLC12A6
disease_id: OMIM:620068
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II
gene_symbol: KLC2
disease_id: OMIM:609541
disease_name: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY
gene_symbol: SMPD1
disease_id: OMIM:257200
disease_name: NIEMANN-PICK DISEASE, TYPE A
gene_symbol: CLCNKB
disease_id: OMIM:607364
disease_name: BARTTER SYNDROME, TYPE 3
gene_symbol: PSMC1
disease_id: OMIM:620071
disease_name: BIRK-AHARONI SYNDROME
gene_symbol: NR0B1
disease_id: OMIM:300200
disease_name: ADRENAL HYPOPLASIA, CONGENITAL
gene_symbol: D2HGDH
disease_id: OMIM:600721
disease_name: D-2-HYDROXYGLUTARIC ACIDURIA 1
gene_symbol: TBX19
disease_id: OMIM:201400
disease_name: ACTH DEFICIENCY, ISOLATED
gene_symbol: RYR1
disease_id: OMIM:117000
disease_name: CENTRAL CORE DISEASE OF MUSCLE
gene_symbol: OFD1
disease_id: OMIM:300209
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2
gene_symbol: CD79B
disease_id: OMIM:612692
disease_name: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE
gene_symbol: FIG4
disease_id: OMIM:612691
disease_name: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
gene_symbol: DNAAF5
disease_id: OMIM:614874
disease_name: CILIARY DYSKINESIA, PRIMARY, 18
gene_symbol: GABBR2
disease_id: OMIM:617903
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
gene_symbol: GABBR2
disease_id: OMIM:617904
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59
gene_symbol: PRKDC
disease_id: OMIM:615966
disease_name: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
gene_symbol: PEX16
disease_id: OMIM:614877
disease_name: PEROXISOME BIOGENESIS DISORDER 8B
gene_symbol: PLCG2
disease_id: OMIM:614878
disease_name: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION
gene_symbol: PLCG2
disease_id: OMIM:614468
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3
gene_symbol: SLC26A3
disease_id: OMIM:214700
disease_name: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
gene_symbol: TXN2
disease_id: OMIM:616811
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
gene_symbol: RPS26
disease_id: OMIM:613309
disease_name: DIAMOND-BLACKFAN ANEMIA 10
gene_symbol: RPS10
disease_id: OMIM:613308
disease_name: DIAMOND-BLACKFAN ANEMIA 9
gene_symbol: NARS1
disease_id: OMIM:619091
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES
gene_symbol: SNAP29
disease_id: OMIM:609528
disease_name: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME
gene_symbol: CBS
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: IPO8
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: THSD4
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ASPH
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LOX
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: BGN
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ABL1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: BRWD3
disease_id: OMIM:300659
disease_name: MENTAL RETARDATION, X-LINKED 93
gene_symbol: NEMF
disease_id: OMIM:619099
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY
gene_symbol: POC1B
disease_id: OMIM:615973
disease_name: CONE-ROD DYSTROPHY 20
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: UVSSA
disease_id: OMIM:614640
disease_name: UV-SENSITIVE SYNDROME 3
gene_symbol: GEMIN4
disease_id: OMIM:617913
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
gene_symbol: EPO
disease_id: OMIM:617911
disease_name: DIAMOND-BLACKFAN ANEMIA-LIKE
gene_symbol: PEX14
disease_id: OMIM:614887
disease_name: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
gene_symbol: VMA12
disease_id: OMIM:616829
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
gene_symbol: VMA22
disease_id: OMIM:616828
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
gene_symbol: REPS1
disease_id: OMIM:617916
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7
gene_symbol: LETM1
disease_id: OMIM:620089
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
gene_symbol: CTBP1
disease_id: OMIM:617915
disease_name: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
gene_symbol: ATP5F1B
disease_id: OMIM:620085
disease_name: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
gene_symbol: MMP2
disease_id: OMIM:259600
disease_name: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY
gene_symbol: MTSS2
disease_id: OMIM:620086
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES
gene_symbol: MTOR
disease_id: OMIM:607341
disease_name: FOCAL CORTICAL DYSPLASIA, TYPE II
gene_symbol: MTOR
disease_id: OMIM:616638
disease_name: SMITH-KINGSMORE SYNDROME
gene_symbol: TSC1
disease_id: OMIM:607341
disease_name: FOCAL CORTICAL DYSPLASIA, TYPE II
gene_symbol: FRMD5
disease_id: OMIM:620094
disease_name: NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA
gene_symbol: NUP62
disease_id: OMIM:271930
disease_name: STRIATONIGRAL DEGENERATION, INFANTILE
gene_symbol: COQ6
disease_id: OMIM:614650
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 6
gene_symbol: YARS2
disease_id: OMIM:613561
disease_name: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
gene_symbol: PIGM
disease_id: OMIM:610293
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1
gene_symbol: IL12B
disease_id: OMIM:614890
disease_name: IMMUNODEFICIENCY 29
gene_symbol: GALC
disease_id: OMIM:245200
disease_name: KRABBE DISEASE
gene_symbol: CBL
disease_id: OMIM:613563
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
gene_symbol: DRC2
disease_id: OMIM:615504
disease_name: CILIARY DYSKINESIA, PRIMARY, 27
gene_symbol: SMARCA4
disease_id: OMIM:613325
disease_name: RHABDOID TUMOR PREDISPOSITION SYNDROME 2
gene_symbol: CAVIN1
disease_id: OMIM:613327
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4
gene_symbol: GABRA1
disease_id: OMIM:615744
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19
gene_symbol: VPS37A
disease_id: OMIM:614898
disease_name: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE
gene_symbol: CNPY3
disease_id: OMIM:617929
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60
gene_symbol: PMP22
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: EGR2
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: PRX
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: DLD
disease_id: OMIM:246900
disease_name: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
gene_symbol: UNC13D
disease_id: OMIM:608898
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
gene_symbol: NKX2-1
disease_id: OMIM:118700
disease_name: CHOREA, BENIGN HEREDITARY
gene_symbol: GUCY1A1
disease_id: OMIM:615750
disease_name: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA
gene_symbol: PEX12
disease_id: OMIM:266510
disease_name: PEROXISOME BIOGENESIS DISORDER 3B
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: GMPPA
disease_id: OMIM:615510
disease_name: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
gene_symbol: ADGRG1
disease_id: OMIM:615752
disease_name: POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE
gene_symbol: HERC2
disease_id: OMIM:615516
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
gene_symbol: LCK
disease_id: OMIM:615758
disease_name: IMMUNODEFICIENCY 22
gene_symbol: ADAM22
disease_id: OMIM:617933
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61
gene_symbol: ZIC1
disease_id: OMIM:616602
disease_name: CRANIOSYNOSTOSIS 6
gene_symbol: NGF
disease_id: OMIM:608654
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V
gene_symbol: SCN3A
disease_id: OMIM:617938
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: MMADHC
disease_id: OMIM:277410
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI
gene_symbol: HYDIN
disease_id: OMIM:608647
disease_name: CILIARY DYSKINESIA, PRIMARY, 5
gene_symbol: POMC
disease_id: OMIM:609734
disease_name: OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR
gene_symbol: VPS13D
disease_id: OMIM:607317
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
gene_symbol: PCDH19
disease_id: OMIM:300088
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9
gene_symbol: QARS1
disease_id: OMIM:615760
disease_name: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
gene_symbol: SETD5
disease_id: OMIM:615761
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
gene_symbol: ENPP1
disease_id: OMIM:615522
disease_name: COLE DISEASE
gene_symbol: STXBP2
disease_id: OMIM:613101
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
gene_symbol: ACTA1
disease_id: OMIM:616852
disease_name: MYOPATHY, SCAPULOHUMEROPERONEAL
gene_symbol: EFL1
disease_id: OMIM:617941
disease_name: SHWACHMAN-DIAMOND SYNDROME 2
gene_symbol: TUBB2A
disease_id: OMIM:615763
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
gene_symbol: POLH
disease_id: OMIM:278750
disease_name: XERODERMA PIGMENTOSUM, VARIANT TYPE
gene_symbol: DSC3
disease_id: OMIM:613102
disease_name: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES
gene_symbol: COQ8A
disease_id: OMIM:612016
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 4
gene_symbol: RFT1
disease_id: OMIM:612015
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In
gene_symbol: IL21
disease_id: OMIM:615767
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 11
gene_symbol: SARS1
disease_id: OMIM:617709
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
gene_symbol: DDC
disease_id: OMIM:608643
disease_name: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
gene_symbol: DNAH5
disease_id: OMIM:608644
disease_name: CILIARY DYSKINESIA, PRIMARY, 3
gene_symbol: ROBO3
disease_id: OMIM:607313
disease_name: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1
gene_symbol: FBXL3
disease_id: OMIM:606220
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: MECP2
disease_id: OMIM:300055
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
gene_symbol: MRPS2
disease_id: OMIM:617950
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36
gene_symbol: ATP13A3
disease_id: OMIM:265400
disease_name: PULMONARY HYPERTENSION, PRIMARY, 5
gene_symbol: PMPCB
disease_id: OMIM:617954
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6
gene_symbol: PPP3CA
disease_id: OMIM:617711
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91
gene_symbol: RORC
disease_id: OMIM:616622
disease_name: IMMUNODEFICIENCY 42
gene_symbol: WARS2
disease_id: OMIM:617710
disease_name: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES
gene_symbol: GP6
disease_id: OMIM:614201
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 11
gene_symbol: EPRS1
disease_id: OMIM:617951
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 15
gene_symbol: PGAP2
disease_id: OMIM:614207
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3
gene_symbol: IL36RN
disease_id: OMIM:614204
disease_name: PSORIASIS 14, PUSTULAR
gene_symbol: ARPC1B
disease_id: OMIM:617718
disease_name: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
gene_symbol: MMUT
disease_id: OMIM:251000
disease_name: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
gene_symbol: SLC7A7
disease_id: OMIM:222700
disease_name: LYSINURIC PROTEIN INTOLERANCE
gene_symbol: KDR
disease_id: OMIM:602089
disease_name: HEMANGIOMA, CAPILLARY INFANTILE
gene_symbol: FLT4
disease_id: OMIM:602089
disease_name: HEMANGIOMA, CAPILLARY INFANTILE
gene_symbol: ANTXR1
disease_id: OMIM:602089
disease_name: HEMANGIOMA, CAPILLARY INFANTILE
gene_symbol: DCX
disease_id: OMIM:300067
disease_name: LISSENCEPHALY, X-LINKED, 1
gene_symbol: SYNE4
disease_id: OMIM:615540
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 76
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: TTI2
disease_id: OMIM:615541
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39
gene_symbol: ERMARD
disease_id: OMIM:615544
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 6
gene_symbol: TULP3
disease_id: OMIM:619902
disease_name: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS
gene_symbol: TMEM106B
disease_id: OMIM:617964
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 16
gene_symbol: VDR
disease_id: OMIM:277440
disease_name: VITAMIN D-DEPENDENT RICKETS, TYPE 2A
gene_symbol: DIAPH1
disease_id: OMIM:616632
disease_name: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
gene_symbol: TANGO2
disease_id: OMIM:616878
disease_name: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
gene_symbol: STAT2
disease_id: OMIM:616636
disease_name: IMMUNODEFICIENCY 44
gene_symbol: MAGEL2
disease_id: OMIM:615547
disease_name: SCHAAF-YANG SYNDROME
gene_symbol: TPK1
disease_id: OMIM:614458
disease_name: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
gene_symbol: SGCD
disease_id: OMIM:606685
disease_name: CARDIOMYOPATHY, DILATED, 1L
gene_symbol: TIAM1
disease_id: OMIM:619908
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES
gene_symbol: SAR1B
disease_id: OMIM:246700
disease_name: CHYLOMICRON RETENTION DISEASE
gene_symbol: ZMPSTE24
disease_id: OMIM:608612
disease_name: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
gene_symbol: TP53RK
disease_id: OMIM:617730
disease_name: GALLOWAY-MOWAT SYNDROME 4
gene_symbol: SCN11A
disease_id: OMIM:615552
disease_name: EPISODIC PAIN SYNDROME, FAMILIAL, 3
gene_symbol: HIKESHI
disease_id: OMIM:616881
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 13
gene_symbol: SLC12A5
disease_id: OMIM:616645
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34
gene_symbol: CPLX1
disease_id: OMIM:617976
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63
gene_symbol: KCNC2
disease_id: OMIM:619913
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103
gene_symbol: GALNS
disease_id: OMIM:253000
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVA
gene_symbol: NEK8
disease_id: OMIM:620903
disease_name: OMIM:620903
gene_symbol: TUBB6
disease_id: OMIM:617732
disease_name: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION
gene_symbol: SLC6A3
disease_id: OMIM:613135
disease_name: PARKINSONISM-DYSTONIA, INFANTILE, 1
gene_symbol: ATP2B1
disease_id: OMIM:619910
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66
gene_symbol: ITPA
disease_id: OMIM:616647
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35
gene_symbol: NR4A2
disease_id: OMIM:619911
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
gene_symbol: APOB
disease_id: OMIM:615558
disease_name: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1
gene_symbol: WDR45B
disease_id: OMIM:617977
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES
gene_symbol: EEF1A2
disease_id: OMIM:616409
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33
gene_symbol: SRPK3
disease_id: OMIM:301134
disease_name: OMIM:301134
gene_symbol: MLC1
disease_id: OMIM:604004
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
gene_symbol: FLNA
disease_id: OMIM:300048
disease_name: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED
gene_symbol: ABCC6
disease_id: OMIM:614473
disease_name: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
gene_symbol: PTPRC
disease_id: OMIM:619924
disease_name: IMMUNODEFICIENCY 105
gene_symbol: NFE2L2
disease_id: OMIM:617744
disease_name: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
gene_symbol: TCTN2
disease_id: OMIM:616654
disease_name: JOUBERT SYNDROME 24
gene_symbol: NCAPD3
disease_id: OMIM:617984
disease_name: MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: GRIA1
disease_id: OMIM:619927
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67
gene_symbol: GRIA1
disease_id: OMIM:619931
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76
gene_symbol: GPHN
disease_id: OMIM:149400
disease_name: HYPEREKPLEXIA 1
gene_symbol: GLRA1
disease_id: OMIM:149400
disease_name: HYPEREKPLEXIA 1
gene_symbol: CNNM2
disease_id: OMIM:616418
disease_name: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1
gene_symbol: SHQ1
disease_id: OMIM:619921
disease_name: DYSTONIA 35, CHILDHOOD-ONSET
gene_symbol: SHQ1
disease_id: OMIM:619922
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
gene_symbol: SLC1A4
disease_id: OMIM:616657
disease_name: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
gene_symbol: GTPBP2
disease_id: OMIM:617988
disease_name: JABERI-ELAHI SYNDROME
gene_symbol: OCLN
disease_id: OMIM:251290
disease_name: PSEUDO-TORCH SYNDROME 1
gene_symbol: LARGE1
disease_id: OMIM:608840
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6
gene_symbol: FHL1
disease_id: OMIM:300280
disease_name: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
gene_symbol: DKC1
disease_id: OMIM:301108
disease_name: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1
gene_symbol: GPD1
disease_id: OMIM:614480
disease_name: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
gene_symbol: DOCK11
disease_id: OMIM:301109
disease_name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
gene_symbol: PTPRQ
disease_id: OMIM:613391
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 84A
gene_symbol: COQ8B
disease_id: OMIM:615573
disease_name: NEPHROTIC SYNDROME, TYPE 9
gene_symbol: RAC1
disease_id: OMIM:617751
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
gene_symbol: ASNS
disease_id: OMIM:615574
disease_name: ASPARAGINE SYNTHETASE DEFICIENCY
gene_symbol: SLC33A1
disease_id: OMIM:614482
disease_name: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
gene_symbol: PHIP
disease_id: OMIM:617991
disease_name: CHUNG-JANSEN SYNDROME
gene_symbol: SLITRK2
disease_id: OMIM:301107
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111
gene_symbol: KRT83
disease_id: OMIM:617756
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5
gene_symbol: LAT
disease_id: OMIM:617514
disease_name: IMMUNODEFICIENCY 52
gene_symbol: IFNAR1
disease_id: OMIM:619935
disease_name: IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS
gene_symbol: GUSB
disease_id: OMIM:253220
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VII
gene_symbol: POMT1
disease_id: OMIM:613155
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1
gene_symbol: POMT2
disease_id: OMIM:613158
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
gene_symbol: AFG3L2
disease_id: OMIM:614487
disease_name: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
gene_symbol: TBXA2R
disease_id: OMIM:614009
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
gene_symbol: PCDH12
disease_id: OMIM:251280
disease_name: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1
gene_symbol: MED23
disease_id: OMIM:614249
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18
gene_symbol: SPATA7
disease_id: OMIM:604232
disease_name: LEBER CONGENITAL AMAUROSIS 3
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: GCDH
disease_id: OMIM:231670
disease_name: GLUTARIC ACIDEMIA I
gene_symbol: ZMYM3
disease_id: OMIM:301111
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112
gene_symbol: C1GALT1C1
disease_id: OMIM:301110
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE
gene_symbol: NEFL
disease_id: OMIM:607734
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F
gene_symbol: UPB1
disease_id: OMIM:613161
disease_name: BETA-UREIDOPROPIONASE DEFICIENCY
gene_symbol: MYMX
disease_id: OMIM:619941
disease_name: CAREY-FINEMAN-ZITER SYNDROME 2
gene_symbol: EXOSC2
disease_id: OMIM:617763
disease_name: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
gene_symbol: MCTS1
disease_id: OMIM:301115
disease_name: IMMUNODEFICIENCY 118
gene_symbol: ACER3
disease_id: OMIM:617762
disease_name: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
gene_symbol: SUCLA2
disease_id: OMIM:612073
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
gene_symbol: NT5C2
disease_id: OMIM:613162
disease_name: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
gene_symbol: CARS2
disease_id: OMIM:616672
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
gene_symbol: GJA1
disease_id: OMIM:617525
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
gene_symbol: FNIP1
disease_id: OMIM:619705
disease_name: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY
gene_symbol: DOCK2
disease_id: OMIM:616433
disease_name: IMMUNODEFICIENCY 40
gene_symbol: PLAA
disease_id: OMIM:617527
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
gene_symbol: ZNF462
disease_id: OMIM:618619
disease_name: WEISS-KRUSZKA SYNDROME
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: GFI1B
disease_id: OMIM:187900
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 17