Phenotype: Delayed CNS myelination (HP:0002188)
Associated genes and diseases:
gene_symbol: ALG14
disease_id: OMIM:619031
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES
gene_symbol: ALG14
disease_id: OMIM:619036
disease_name: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: ADARB1
disease_id: OMIM:618862
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES
gene_symbol: ARF1
disease_id: OMIM:618185
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 8
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: TAF2
disease_id: OMIM:615599
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
gene_symbol: HMBS
disease_id: OMIM:620704
disease_name: ENCEPHALOPATHY, PORPHYRIA-RELATED
gene_symbol: DNM1L
disease_id: OMIM:614388
disease_name: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1
gene_symbol: VPS11
disease_id: ORPHA:466934
disease_name: VPS11-related autosomal recessive hypomyelinating leukodystrophy
VPS11-related autosomal recessive hypomyelinating leukoencephalopathy
gene_symbol: MLYCD
disease_id: OMIM:248360
disease_name: MALONYL-CoA DECARBOXYLASE DEFICIENCY
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
gene_symbol: SLC35B2
disease_id: OMIM:620269
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA
gene_symbol: CLPB
disease_id: OMIM:619835
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA
gene_symbol: FZR1
disease_id: OMIM:620145
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109
gene_symbol: POGZ
disease_id: ORPHA:468678
disease_name: White-Sutton syndrome
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: WWOX
disease_id: OMIM:616211
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28
gene_symbol: UFC1
disease_id: OMIM:618076
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
gene_symbol: CHAMP1
disease_id: OMIM:616579
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
gene_symbol: LIPT2
disease_id: OMIM:617668
disease_name: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
gene_symbol: TBC1D24
disease_id: ORPHA:352596
disease_name: Progressive myoclonic epilepsy with dystonia
PMED
Progressive myoclonus epilepsy with dystonia
gene_symbol: LMX1B
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: STXBP1
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: STXBP1
disease_id: OMIM:612164
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4
gene_symbol: ATP1A3
disease_id: OMIM:619606
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99
gene_symbol: AFG2A
disease_id: OMIM:616577
disease_name: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
gene_symbol: VPS33A
disease_id: OMIM:617303
disease_name: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
gene_symbol: YME1L1
disease_id: OMIM:617302
disease_name: OPTIC ATROPHY 11
gene_symbol: NRROS
disease_id: OMIM:618875
disease_name: SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
gene_symbol: PGAP1
disease_id: OMIM:615802
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
gene_symbol: EIF2AK2
disease_id: OMIM:618877
disease_name: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
gene_symbol: KCNN2
disease_id: OMIM:619725
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES
gene_symbol: ARNT2
disease_id: OMIM:615926
disease_name: WEBB-DATTANI SYNDROME
gene_symbol: KCNT1
disease_id: OMIM:614959
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14
gene_symbol: YRDC
disease_id: OMIM:619609
disease_name: GALLOWAY-MOWAT SYNDROME 10
gene_symbol: TPR
disease_id: OMIM:620393
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: ASH1L
disease_id: OMIM:617796
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
gene_symbol: TAF13
disease_id: OMIM:617432
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
gene_symbol: YY1
disease_id: OMIM:617557
disease_name: GABRIELE-DE VRIES SYNDROME
gene_symbol: SLC19A1
disease_id: OMIM:620603
disease_name: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE
gene_symbol: PEX7
disease_id: OMIM:215100
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
gene_symbol: ALDH7A1
disease_id: ORPHA:3006
disease_name: Pyridoxine-dependent epilepsy
Antiquitin deficiency
Vitamin B6-dependent seizures
gene_symbol: PLPBP
disease_id: ORPHA:3006
disease_name: Pyridoxine-dependent epilepsy
Antiquitin deficiency
Vitamin B6-dependent seizures
gene_symbol: BMP4
disease_id: OMIM:607932
disease_name: MICROPHTHALMIA, SYNDROMIC 6
gene_symbol: DDX6
disease_id: OMIM:618653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
gene_symbol: POLR3B
disease_id: OMIM:619742
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I
gene_symbol: C18orf32
disease_id: OMIM:619985
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25
gene_symbol: NEDD4L
disease_id: OMIM:617201
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 7
gene_symbol: GLYCTK
disease_id: OMIM:220120
disease_name: D-GLYCERIC ACIDURIA
gene_symbol: CARS1
disease_id: OMIM:618891
disease_name: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: ALDH5A1
disease_id: OMIM:271980
disease_name: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: CTNNB1
disease_id: ORPHA:404473
disease_name: Severe intellectual disability-progressive spastic diplegia syndrome
CTNNB1 syndrome
gene_symbol: HS2ST1
disease_id: OMIM:619194
disease_name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
gene_symbol: PPP2R1A
disease_id: OMIM:616362
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
gene_symbol: CLCN7
disease_id: OMIM:618541
disease_name: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: CLCN3
disease_id: OMIM:619517
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES
gene_symbol: EXOC8
disease_id: OMIM:619076
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: SMG9
disease_id: OMIM:616920
disease_name: HEART AND BRAIN MALFORMATION SYNDROME
gene_symbol: ZNF526
disease_id: OMIM:619877
disease_name: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME
gene_symbol: MDH2
disease_id: OMIM:617339
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51
gene_symbol: DOHH
disease_id: OMIM:620066
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT
gene_symbol: SMPD1
disease_id: OMIM:257200
disease_name: NIEMANN-PICK DISEASE, TYPE A
gene_symbol: D2HGDH
disease_id: OMIM:600721
disease_name: D-2-HYDROXYGLUTARIC ACIDURIA 1
gene_symbol: COPB2
disease_id: OMIM:619884
disease_name: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY
gene_symbol: COPB2
disease_id: OMIM:617800
disease_name: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: UGDH
disease_id: OMIM:618792
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84
gene_symbol: ADAT3
disease_id: OMIM:615286
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
gene_symbol: CNOT3
disease_id: OMIM:618672
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES
gene_symbol: SLC1A2
disease_id: OMIM:617105
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41
gene_symbol: MED17
disease_id: OMIM:613668
disease_name: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
gene_symbol: TXN2
disease_id: OMIM:616811
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
gene_symbol: TMEM147
disease_id: OMIM:620075
disease_name: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY
gene_symbol: MORC2
disease_id: OMIM:619090
disease_name: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
gene_symbol: NARS1
disease_id: OMIM:619091
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES
gene_symbol: TNR
disease_id: OMIM:619653
disease_name: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS
gene_symbol: SLC35A2
disease_id: OMIM:300896
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
gene_symbol: FANCL
disease_id: OMIM:614083
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP L
gene_symbol: FCSK
disease_id: OMIM:618324
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2
gene_symbol: ALG2
disease_id: OMIM:607906
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
gene_symbol: KIF5A
disease_id: OMIM:617235
disease_name: MYOCLONUS, INTRACTABLE, NEONATAL
gene_symbol: FOXP1
disease_id: OMIM:613670
disease_name: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
gene_symbol: CLTCL1
disease_id: ORPHA:453510
disease_name: Congenital insensitivity to pain with severe intellectual disability
Congenital absence of pain with severe intellectual disability
Congenital analgesia with severe intellectual disability
Congenital insensitivity to pain with preserved temperature sensation
Congenital insensitivity to pain with severe non-progressive cognitive delay
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: TMEM63A
disease_id: OMIM:618688
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE
gene_symbol: FBXO28
disease_id: OMIM:619777
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100
gene_symbol: GEMIN4
disease_id: OMIM:617913
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: FRMD5
disease_id: OMIM:620094
disease_name: NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA
gene_symbol: GTF2H5
disease_id: OMIM:616395
disease_name: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
gene_symbol: PPIL1
disease_id: OMIM:619301
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 14
gene_symbol: TRRAP
disease_id: OMIM:618454
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
gene_symbol: ATP6AP2
disease_id: OMIM:300423
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE
gene_symbol: TGFB1
disease_id: OMIM:618213
disease_name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
gene_symbol: CDC40
disease_id: OMIM:619302
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 15
gene_symbol: PRUNE1
disease_id: OMIM:617481
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
gene_symbol: TRAPPC2L
disease_id: OMIM:618331
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS
gene_symbol: FAR1
disease_id: OMIM:616154
disease_name: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER
gene_symbol: KCNH5
disease_id: OMIM:620537
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112
gene_symbol: PURA
disease_id: OMIM:616158
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
gene_symbol: DHX30
disease_id: OMIM:617804
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
gene_symbol: U2AF2
disease_id: OMIM:620535
disease_name: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES
gene_symbol: EXOSC1
disease_id: OMIM:619304
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F
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: TRIM8
disease_id: OMIM:619428
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME
gene_symbol: TMEM240
disease_id: OMIM:607454
disease_name: SPINOCEREBELLAR ATAXIA 21
gene_symbol: RAB11B
disease_id: OMIM:617807
disease_name: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER
gene_symbol: ZC4H2
disease_id: OMIM:301041
disease_name: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
gene_symbol: UBA5
disease_id: OMIM:617132
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44
gene_symbol: TNPO2
disease_id: OMIM:619556
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES
gene_symbol: FANCB
disease_id: OMIM:300514
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP B
gene_symbol: FOXG1
disease_id: OMIM:613454
disease_name: RETT SYNDROME, CONGENITAL VARIANT
gene_symbol: INTS11
disease_id: OMIM:620428
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES
gene_symbol: COG3
disease_id: OMIM:620546
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb
gene_symbol: ACTL6B
disease_id: OMIM:618468
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76
gene_symbol: NUP133
disease_id: OMIM:618349
disease_name: GALLOWAY-MOWAT SYNDROME 8
gene_symbol: SHANK3
disease_id: OMIM:606232
disease_name: PHELAN-MCDERMID SYNDROME
gene_symbol: ALG9
disease_id: OMIM:608776
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
gene_symbol: KDM1A
disease_id: OMIM:616728
disease_name: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES
gene_symbol: ARX
disease_id: OMIM:308350
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1
gene_symbol: PIGU
disease_id: OMIM:618590
disease_name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS
gene_symbol: ZNF148
disease_id: OMIM:617260
disease_name: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
gene_symbol: PPP2CA
disease_id: OMIM:618354
disease_name: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: SLC16A2
disease_id: OMIM:300523
disease_name: ALLAN-HERNDON-DUDLEY SYNDROME
gene_symbol: ALG13
disease_id: OMIM:300884
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36
gene_symbol: LIPT1
disease_id: OMIM:616299
disease_name: LIPOYLTRANSFERASE 1 DEFICIENCY
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: WARS1
disease_id: OMIM:620317
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES
gene_symbol: SLC2A1
disease_id: OMIM:608885
disease_name: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS
gene_symbol: CDK19
disease_id: OMIM:618916
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87
gene_symbol: AARS1
disease_id: OMIM:619691
disease_name: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE
gene_symbol: MTHFS
disease_id: OMIM:618367
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
gene_symbol: RHOBTB2
disease_id: OMIM:618004
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64
gene_symbol: ZNF335
disease_id: OMIM:615095
disease_name: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: RAB3GAP1
disease_id: OMIM:600118
disease_name: WARBURG MICRO SYNDROME 1
gene_symbol: NACC1
disease_id: OMIM:617393
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
gene_symbol: PRMT7
disease_id: OMIM:617157
disease_name: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES
gene_symbol: PPP3CA
disease_id: OMIM:617711
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91
gene_symbol: WARS2
disease_id: OMIM:617710
disease_name: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES
gene_symbol: NUP188
disease_id: OMIM:618804
disease_name: SANDESTIG-STEFANOVA SYNDROME
gene_symbol: TKFC
disease_id: OMIM:618805
disease_name: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: HCFC1
disease_id: OMIM:309541
disease_name: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
gene_symbol: HNRNPC
disease_id: OMIM:620688
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74
gene_symbol: GET4
disease_id: OMIM:620200
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy
gene_symbol: MMUT
disease_id: OMIM:251000
disease_name: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
gene_symbol: GRIK2
disease_id: OMIM:619580
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
gene_symbol: RNF13
disease_id: OMIM:618379
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73
gene_symbol: FRMPD4
disease_id: OMIM:300983
disease_name: MENTAL RETARDATION, X-LINKED 104
gene_symbol: NEUROD2
disease_id: OMIM:618374
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72
gene_symbol: TMEM106B
disease_id: OMIM:617964
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 16
gene_symbol: ELOVL4
disease_id: OMIM:614457
disease_name: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
gene_symbol: NAE1
disease_id: OMIM:620210
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: AP3D1
disease_id: OMIM:617050
disease_name: HERMANSKY-PUDLAK SYNDROME 10
gene_symbol: KIDINS220
disease_id: OMIM:617296
disease_name: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
gene_symbol: TRNT1
disease_id: OMIM:616084
disease_name: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
gene_symbol: HIKESHI
disease_id: OMIM:616881
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 13
gene_symbol: PIGS
disease_id: OMIM:618143
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
gene_symbol: SLC12A5
disease_id: OMIM:616645
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34
gene_symbol: KCNC2
disease_id: OMIM:619913
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103
gene_symbol: CLTC
disease_id: OMIM:617854
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56
gene_symbol: PKDCC
disease_id: OMIM:618821
disease_name: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
gene_symbol: CUL3
disease_id: OMIM:619239
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: ITPA
disease_id: OMIM:616647
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35
gene_symbol: RNU7-1
disease_id: OMIM:619487
disease_name: AICARDI-GOUTIERES SYNDROME 9
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
gene_symbol: MADD
disease_id: OMIM:619005
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
gene_symbol: IER3IP1
disease_id: OMIM:614231
disease_name: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
gene_symbol: GABRG2
disease_id: OMIM:618396
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74
gene_symbol: TRMT5
disease_id: OMIM:616539
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
gene_symbol: SETD1A
disease_id: OMIM:618832
disease_name: EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY
gene_symbol: SLC1A4
disease_id: OMIM:616657
disease_name: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
gene_symbol: CACNA1I
disease_id: OMIM:620114
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES
gene_symbol: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: ACY1
disease_id: OMIM:609924
disease_name: AMINOACYLASE 1 DEFICIENCY
gene_symbol: SLC6A1
disease_id: OMIM:616421
disease_name: MYOCLONIC-ATONIC EPILEPSY
gene_symbol: NCDN
disease_id: OMIM:619373
disease_name: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS
gene_symbol: POU3F3
disease_id: OMIM:618604
disease_name: SNIJDERS BLOK-FISHER SYNDROME
gene_symbol: POLR2A
disease_id: OMIM:618603
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
gene_symbol: TMEM163
disease_id: OMIM:620243
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 25
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
gene_symbol: EARS2
disease_id: OMIM:614924
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
gene_symbol: ATP9A
disease_id: OMIM:620242
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES
gene_symbol: GOLGA2
disease_id: OMIM:620240
disease_name: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES
gene_symbol: NMNAT1
disease_id: OMIM:619260
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS
gene_symbol: TIMM22
disease_id: OMIM:618851
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43
gene_symbol: UPB1
disease_id: OMIM:613161
disease_name: BETA-UREIDOPROPIONASE DEFICIENCY
gene_symbol: DHX37
disease_id: OMIM:618731
disease_name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
gene_symbol: EXOSC2
disease_id: OMIM:617763
disease_name: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: PHACTR1
disease_id: OMIM:618298
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70
gene_symbol: PIBF1
disease_id: OMIM:617767
disease_name: JOUBERT SYNDROME 33
gene_symbol: BRAT1
disease_id: OMIM:614498
disease_name: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
gene_symbol: PLAA
disease_id: OMIM:617527
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES