Phenotype: Cerebral atrophy (HP:0002059)
Associated genes and diseases:
gene_symbol: SERPINI1
disease_id: OMIM:604218
disease_name: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES
gene_symbol: KIF1C
disease_id: ORPHA:397946
disease_name: Autosomal spastic paraplegia type 58
Autosomal spastic ataxia type 2
SPAX2
SPG58
gene_symbol: KIF1C
disease_id: OMIM:611302
disease_name: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE
gene_symbol: HTT
disease_id: ORPHA:399
disease_name: Huntington disease
Huntington chorea
gene_symbol: HTT
disease_id: OMIM:617435
disease_name: LOPES-MACIEL-RODAN SYNDROME
gene_symbol: SLC2A3
disease_id: ORPHA:399
disease_name: Huntington disease
Huntington chorea
gene_symbol: CTNS
disease_id: OMIM:219800
disease_name: CYSTINOSIS, NEPHROPATHIC
gene_symbol: ADNP
disease_id: ORPHA:404448
disease_name: ADNP syndrome
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
Helsmoortel-Van Der Aa Syndrome
gene_symbol: STAMBP
disease_id: OMIM:614261
disease_name: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: PSPH
disease_id: OMIM:614023
disease_name: PHOSPHOSERINE PHOSPHATASE DEFICIENCY
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: UFM1
disease_id: OMIM:617899
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 14
gene_symbol: TAF2
disease_id: OMIM:615599
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
gene_symbol: TAF2
disease_id: ORPHA:397951
disease_name: Microcephaly-thin corpus callosum-intellectual disability syndrome
gene_symbol: DNM1L
disease_id: OMIM:614388
disease_name: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1
gene_symbol: TRAPPC11
disease_id: OMIM:615356
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18
gene_symbol: TRAPPC11
disease_id: ORPHA:369847
disease_name: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
gene_symbol: MED25
disease_id: OMIM:616449
disease_name: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
gene_symbol: MED25
disease_id: ORPHA:464738
disease_name: Basel-Vanagaite-Smirin-Yosef syndrome
gene_symbol: GLB1
disease_id: OMIM:230600
disease_name: GM1-GANGLIOSIDOSIS, TYPE II
gene_symbol: DNMT1
disease_id: ORPHA:314404
disease_name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
ADCA-DN syndrome
Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome
gene_symbol: DNMT1
disease_id: OMIM:614116
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IE
gene_symbol: WDR73
disease_id: OMIM:251300
disease_name: GALLOWAY-MOWAT SYNDROME 1
gene_symbol: MTRR
disease_id: OMIM:236270
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
gene_symbol: GJC2
disease_id: OMIM:608804
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 2
gene_symbol: HEXB
disease_id: ORPHA:309162
disease_name: Sandhoff disease, juvenile form
Beta-hexosaminidase subunit beta deficiency, juvenile form
GM2 gangliosidosis, Sandhoff variant, juvenile form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form
gene_symbol: WNK3
disease_id: OMIM:309610
disease_name: PRIETO X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: WWOX
disease_id: OMIM:616211
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28
gene_symbol: WWOX
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP1A2
disease_id: OMIM:619605
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98
gene_symbol: ATP1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NUTM2B-AS1
disease_id: OMIM:618637
disease_name: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1
gene_symbol: DTYMK
disease_id: OMIM:619847
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
gene_symbol: NRROS
disease_id: OMIM:618875
disease_name: SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
gene_symbol: CLN6
disease_id: OMIM:204300
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
gene_symbol: AARS1
disease_id: OMIM:616339
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29
gene_symbol: AARS1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: EIF2AK2
disease_id: OMIM:618877
disease_name: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: YRDC
disease_id: OMIM:619609
disease_name: GALLOWAY-MOWAT SYNDROME 10
gene_symbol: ATP11A
disease_id: OMIM:619851
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 24
gene_symbol: UCHL1
disease_id: OMIM:615491
disease_name: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
gene_symbol: PCK1
disease_id: OMIM:261680
disease_name: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC
gene_symbol: PUM1
disease_id: OMIM:620719
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
gene_symbol: UBTF
disease_id: OMIM:617672
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
gene_symbol: UBTF
disease_id: ORPHA:500180
disease_name: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
gene_symbol: RFT1
disease_id: ORPHA:244310
disease_name: RFT1-CDG
CDG syndrome type In
CDG-In
CDG1N
Carbohydrate deficient glycoprotein syndrome type In
Congenital disorder of glycosylation type 1n
Congenital disorder of glycosylation type In
Man5GlcNAc2-PP-Dol flippase deficiency
gene_symbol: RFT1
disease_id: OMIM:612015
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In
gene_symbol: SLC19A1
disease_id: OMIM:620603
disease_name: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE
gene_symbol: ERCC6
disease_id: OMIM:278800
disease_name: DE SANCTIS-CACCHIONE SYNDROME
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: DGUOK
disease_id: OMIM:251880
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
gene_symbol: CARS1
disease_id: OMIM:618891
disease_name: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
gene_symbol: PCYT2
disease_id: OMIM:618770
disease_name: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
gene_symbol: CLN3
disease_id: OMIM:204200
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 3
gene_symbol: KCNA2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DNM1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: AP3B2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: AP3B2
disease_id: OMIM:617276
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48
gene_symbol: ATP6V1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP6V1A
disease_id: OMIM:618012
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93
gene_symbol: SLC38A3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FZR1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: KCNC2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: EEF1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: EEF1A2
disease_id: OMIM:616393
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
gene_symbol: FBXO28
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FBXO28
disease_id: OMIM:619777
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100
gene_symbol: GABRB2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SYNGAP1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRA5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GRIN2D
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GRIN2D
disease_id: OMIM:617162
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46
gene_symbol: NUS1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CLTC
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SZT2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: HCN1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NECAP1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PACS2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN8A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN8A
disease_id: OMIM:614558
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13
gene_symbol: GABBR2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRA2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DALRD3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CYFIP2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CYFIP2
disease_id: OMIM:618008
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65
gene_symbol: NTRK2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PARS2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CDK19
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CDK19
disease_id: OMIM:618916
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87
gene_symbol: FGF12
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PPP3CA
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PPP3CA
disease_id: OMIM:617711
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91
gene_symbol: ATP1A3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: TRAK1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRG2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: YWHAG
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: UBA5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: UBA5
disease_id: OMIM:617132
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44
gene_symbol: SCN3A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA2D1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CELF2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA1B
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA1B
disease_id: OMIM:618497
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS
gene_symbol: ACTL6B
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ACTL6B
disease_id: OMIM:618468
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76
gene_symbol: FOXG1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC1A2
disease_id: OMIM:617105
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41
gene_symbol: SYNJ1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: KCNB1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC13A5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CNKSR2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN1A
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: SCN1A
disease_id: OMIM:607208
disease_name: DRAVET SYNDROME
gene_symbol: DHDDS
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SETBP1
disease_id: OMIM:269150
disease_name: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: TECPR2
disease_id: OMIM:615031
disease_name: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
gene_symbol: TECPR2
disease_id: ORPHA:320385
disease_name: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Autosomal recessive spastic paraplegia type 49
HSAN due to TECPR2 mutation
SPG49
gene_symbol: PIGT
disease_id: OMIM:615398
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
gene_symbol: NKX6-2
disease_id: ORPHA:527497
disease_name: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia
SPAX8
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: TTC19
disease_id: OMIM:615157
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: TIMM50
disease_id: OMIM:617698
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX
gene_symbol: TIMM50
disease_id: ORPHA:505216
disease_name: 3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome
MGA9
gene_symbol: CPSF3
disease_id: OMIM:619876
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
gene_symbol: NUP214
disease_id: OMIM:618426
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9
gene_symbol: SUMF1
disease_id: OMIM:272200
disease_name: MULTIPLE SULFATASE DEFICIENCY
gene_symbol: ALG1
disease_id: ORPHA:79327
disease_name: ALG1-CDG
CDG syndrome type Ik
CDG-Ik
CDG1K
Carbohydrate deficient glycoprotein syndrome type Ik
Congenital disorder of glycosylation type 1k
Congenital disorder of glycosylation type Ik
Mannosyltransferase 1 deficiency
gene_symbol: ALG1
disease_id: OMIM:608540
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
gene_symbol: ALG9
disease_id: ORPHA:79328
disease_name: ALG9-CDG
CDG syndrome type IL
CDG-IL
CDG1L
Carbohydrate deficient glycoprotein syndrome type IL
Congenital disorder of glycosylation type 1L
Mannosyltransferase 7-9 deficiency
gene_symbol: ALG9
disease_id: OMIM:608776
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
gene_symbol: BCAS3
disease_id: OMIM:619641
disease_name: HENGEL-MAROOFIAN-SCHOLS SYNDROME
gene_symbol: RALGAPA1
disease_id: OMIM:618797
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION
gene_symbol: CAPRIN1
disease_id: OMIM:620636
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE
gene_symbol: SNAPC4
disease_id: OMIM:620515
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION
gene_symbol: PITRM1
disease_id: OMIM:619405
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30
gene_symbol: MFSD8
disease_id: OMIM:610951
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 7
gene_symbol: FH
disease_id: OMIM:606812
disease_name: FUMARASE DEFICIENCY
gene_symbol: FH
disease_id: ORPHA:24
disease_name: Fumaric aciduria
Fumarase deficiency
gene_symbol: PIGN
disease_id: OMIM:614080
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
gene_symbol: NAXD
disease_id: OMIM:618321
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: RARS1
disease_id: OMIM:616140
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 9
gene_symbol: NALCN
disease_id: OMIM:616266
disease_name: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
gene_symbol: KY
disease_id: ORPHA:496689
disease_name: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Kyphoscoliosis-lateral tongue atrophy-HSP syndrome
gene_symbol: KCNQ2
disease_id: ORPHA:439218
disease_name: KCNQ2-related epileptic encephalopathy
KCNQ2-NEE
KCNQ2-related neonatal epileptic encephalopathy
gene_symbol: KCNQ2
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: MRM2
disease_id: OMIM:618567
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 17
gene_symbol: KANK1
disease_id: OMIM:612900
disease_name: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2
gene_symbol: CLN8
disease_id: ORPHA:1947
disease_name: Progressive epilepsy-intellectual disability syndrome, Finnish type
CLN8 disease, Northern epilepsy variant
NCL, Northern epilepsy variant
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
Northern epilepsy
gene_symbol: CLN8
disease_id: OMIM:600143
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 8
gene_symbol: CLN8
disease_id: OMIM:610003
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
gene_symbol: DPM1
disease_id: ORPHA:79322
disease_name: DPM1-CDG
CDG syndrome type Ie
CDG-Ie
CDG1E
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Dol-P-mannosyltransferase deficiency
gene_symbol: ALG3
disease_id: OMIM:601110
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
gene_symbol: WIPI2
disease_id: OMIM:618453
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES
gene_symbol: ATG7
disease_id: OMIM:619422
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31
gene_symbol: TGFB1
disease_id: OMIM:618213
disease_name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
gene_symbol: CLPB
disease_id: OMIM:616271
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII
gene_symbol: CLPB
disease_id: ORPHA:445038
disease_name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
3-methylglutaconic aciduria type 7
MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
MGA7
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: 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: HTRA2
disease_id: OMIM:617248
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
gene_symbol: PRUNE1
disease_id: ORPHA:544469
disease_name: PRUNE1-related neurological syndrome
gene_symbol: EXOSC1
disease_id: OMIM:619304
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1F
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: PIGA
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: MAPT
disease_id: OMIM:601104
disease_name: SUPRANUCLEAR PALSY, PROGRESSIVE, 1
gene_symbol: HDAC4
disease_id: OMIM:619797
disease_name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: SLC39A14
disease_id: OMIM:617013
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 2
gene_symbol: SLC39A14
disease_id: ORPHA:521406
disease_name: Dystonia-parkinsonism-hypermanganesemia syndrome
gene_symbol: CNTNAP1
disease_id: OMIM:616286
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
gene_symbol: SLC31A1
disease_id: OMIM:620306
disease_name: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
gene_symbol: INTS11
disease_id: OMIM:620428
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES
gene_symbol: MPDU1
disease_id: OMIM:609180
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
gene_symbol: NODAL
disease_id: OMIM:270100
disease_name: HETEROTAXY, VISCERAL, 5, AUTOSOMAL
gene_symbol: PIGU
disease_id: OMIM:618590
disease_name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS
gene_symbol: PLK4
disease_id: OMIM:616171
disease_name: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
gene_symbol: TK2
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: TK2
disease_id: OMIM:609560
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
gene_symbol: POLG
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: POLG
disease_id: OMIM:203700
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
gene_symbol: TREX1
disease_id: OMIM:225750
disease_name: AICARDI-GOUTIERES SYNDROME 1
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: HECW2
disease_id: OMIM:617268
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
gene_symbol: NACC1
disease_id: ORPHA:500545
disease_name: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
gene_symbol: NACC1
disease_id: OMIM:617393
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
gene_symbol: WDR45
disease_id: ORPHA:329284
disease_name: Beta-propeller protein-associated neurodegeneration
BPAN
NBIA5
Neurodegeneration with brain iron accumulation type 5
SENDA
Static encephalopathy of childhood with neurodegeneration in adulthood
gene_symbol: WDR45
disease_id: OMIM:300894
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
gene_symbol: POLR1A
disease_id: OMIM:620675
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 27
gene_symbol: DMPK
disease_id: OMIM:160900
disease_name: MYOTONIC DYSTROPHY 1
gene_symbol: KCTD7
disease_id: OMIM:611726
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS
gene_symbol: KCTD7
disease_id: ORPHA:263516
disease_name: Progressive myoclonic epilepsy type 3
EPM3
PME type 3
Progressive myoclonic epilepsy due to KCTD7 deficiency
Progressive myoclonus epilepsy type 3
gene_symbol: RBL2
disease_id: OMIM:619690
disease_name: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
gene_symbol: COLGALT1
disease_id: OMIM:618360
disease_name: BRAIN SMALL VESSEL DISEASE 3
gene_symbol: PRKN
disease_id: OMIM:600116
disease_name: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: NFIX
disease_id: ORPHA:447980
disease_name: 19p13.3 microduplication syndrome
Dup(19)(p13.3)
gene_symbol: GFM2
disease_id: ORPHA:565624
disease_name: Combined oxidative phosphorylation defect type 39
COXPD39
GFM2-related combined oxidative phosphorylation defect
gene_symbol: GFM2
disease_id: OMIM:618397
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39
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: NDUFA9
disease_id: OMIM:618247
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
gene_symbol: ROGDI
disease_id: OMIM:226750
disease_name: KOHLSCHUTTER-TONZ SYNDROME
gene_symbol: SMARCC2
disease_id: OMIM:618362
disease_name: COFFIN-SIRIS SYNDROME 8
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: NAA10
disease_id: ORPHA:276432
disease_name: Ogden syndrome
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
gene_symbol: AIMP2
disease_id: OMIM:618006
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 17
gene_symbol: AUH
disease_id: OMIM:250950
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE I
gene_symbol: TWNK
disease_id: OMIM:609286
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3
gene_symbol: SUOX
disease_id: OMIM:272300
disease_name: SULFITE OXIDASE DEFICIENCY, ISOLATED
gene_symbol: DYNC1I2
disease_id: OMIM:618492
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: DNAJC3
disease_id: OMIM:616192
disease_name: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS
gene_symbol: DNAJC3
disease_id: ORPHA:445062
disease_name: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome
Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome
gene_symbol: SYT2
disease_id: OMIM:619461
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE
gene_symbol: SUCLG1
disease_id: ORPHA:17
disease_name: Fatal infantile lactic acidosis with methylmalonic aciduria
gene_symbol: SUCLG1
disease_id: OMIM:245400
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
gene_symbol: NDUFB8
disease_id: OMIM:618252
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
gene_symbol: ATN1
disease_id: OMIM:618494
disease_name: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES
gene_symbol: NEUROD2
disease_id: OMIM:618374
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72
gene_symbol: ATAD1
disease_id: OMIM:618011
disease_name: HYPEREKPLEXIA 4
gene_symbol: HEPACAM
disease_id: OMIM:613925
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
gene_symbol: MTR
disease_id: OMIM:250940
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE
gene_symbol: HSD17B10
disease_id: ORPHA:391428
disease_name: HSD10 disease, infantile type
2-methyl-3-hydroxybutyric aciduria, classic type
2-methyl-3-hydroxybutyric aciduria, infantile type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
HSD10 deficiency, classic type
HSD10 deficiency, infantile type
HSD10 disease, classic type
MHBD deficiency, classic type
MHBD deficiency, infantile type
gene_symbol: PUS3
disease_id: OMIM:617051
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE
gene_symbol: AP3D1
disease_id: OMIM:617050
disease_name: HERMANSKY-PUDLAK SYNDROME 10
gene_symbol: COASY
disease_id: OMIM:618266
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 12
gene_symbol: KIDINS220
disease_id: OMIM:617296
disease_name: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
gene_symbol: LHX1
disease_id: ORPHA:261265
disease_name: 17q12 microdeletion syndrome
Del(17)(q12)
Monosomy 17q12
gene_symbol: HNF1B
disease_id: ORPHA:261265
disease_name: 17q12 microdeletion syndrome
Del(17)(q12)
Monosomy 17q12
gene_symbol: CCDC47
disease_id: OMIM:618268
disease_name: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
gene_symbol: TRNT1
disease_id: OMIM:616084
disease_name: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
gene_symbol: MT-TL1
disease_id: ORPHA:324525
disease_name: Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation
Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation
gene_symbol: OSTM1
disease_id: ORPHA:85179
disease_name: Infantile osteopetrosis with neuroaxonal dysplasia
gene_symbol: OSTM1
disease_id: OMIM:259720
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5
gene_symbol: PIGS
disease_id: OMIM:618143
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: SEPSECS
disease_id: OMIM:613811
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
gene_symbol: GAD1
disease_id: OMIM:619124
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89
gene_symbol: RNU7-1
disease_id: OMIM:619487
disease_name: AICARDI-GOUTIERES SYNDROME 9
gene_symbol: YIF1B
disease_id: OMIM:619125
disease_name: KAYA-BARAKAT-MASSON SYNDROME
gene_symbol: GM2A
disease_id: ORPHA:309246
disease_name: GM2 gangliosidosis, AB variant
Hexosaminidase activator deficiency
gene_symbol: GM2A
disease_id: OMIM:272750
disease_name: GM2-GANGLIOSIDOSIS, AB VARIANT
gene_symbol: ALG11
disease_id: ORPHA:280071
disease_name: ALG11-CDG
CDG syndrome type Ip
CDG-Ip
CDG1P
Carbohydrate deficient glycoprotein syndrome type Ip
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: TTC5
disease_id: OMIM:619244
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
gene_symbol: LSM11
disease_id: OMIM:619486
disease_name: AICARDI-GOUTIERES SYNDROME 8
gene_symbol: TPP1
disease_id: OMIM:204500
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 2
gene_symbol: RARS2
disease_id: OMIM:611523
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 6
gene_symbol: GBA2
disease_id: ORPHA:320391
disease_name: Autosomal recessive spastic paraplegia type 46
SPG46
gene_symbol: GBA2
disease_id: OMIM:614409
disease_name: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
gene_symbol: GBA2
disease_id: ORPHA:352641
disease_name: Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebellar ataxia due to GBA2 deficiency
gene_symbol: SOX10
disease_id: OMIM:609136
disease_name: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: TRAF7
disease_id: OMIM:618164
disease_name: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
gene_symbol: GLE1
disease_id: OMIM:611890
disease_name: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: SNORD118
disease_id: ORPHA:542310
disease_name: Leukoencephalopathy with calcifications and cysts
LCC
Labrune syndrome
gene_symbol: NANS
disease_id: OMIM:610442
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
gene_symbol: DHFR
disease_id: OMIM:613839
disease_name: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
gene_symbol: NAGA
disease_id: OMIM:609242
disease_name: KANZAKI DISEASE
gene_symbol: ADPRS
disease_id: OMIM:618170
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
gene_symbol: NMNAT1
disease_id: OMIM:619260
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS
gene_symbol: GBA1
disease_id: OMIM:230900
disease_name: GAUCHER DISEASE, TYPE II
gene_symbol: RNASEH2A
disease_id: OMIM:610333
disease_name: AICARDI-GOUTIERES SYNDROME 4
gene_symbol: ABAT
disease_id: ORPHA:2066
disease_name: Gamma-aminobutyric acid transaminase deficiency
GABA transaminase deficiency
gene_symbol: PCLO
disease_id: OMIM:608027
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 3
gene_symbol: PLA2G6
disease_id: OMIM:610217
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
gene_symbol: PLA2G6
disease_id: OMIM:256600
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
gene_symbol: KIF7
disease_id: ORPHA:166024
disease_name: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
gene_symbol: NDUFA8
disease_id: OMIM:619272
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37
gene_symbol: VPS4A
disease_id: OMIM:619273
disease_name: CIMDAG SYNDROME
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: ALG14
disease_id: OMIM:619036
disease_name: MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY
gene_symbol: CLCN4
disease_id: OMIM:300114
disease_name: RAYNAUD-CLAES SYNDROME
gene_symbol: MECR
disease_id: ORPHA:508093
disease_name: MEPAN syndrome
Autosomal recessive childhood-onset dystonia, DYT29 type
Childhood-onset generalized dystonia-optic atrophy syndrome
DYT29
Dystonia 29
Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome
gene_symbol: EXOSC9
disease_id: OMIM:618065
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
gene_symbol: SLC35A2
disease_id: ORPHA:356961
disease_name: SLC35A2-CDG
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
gene_symbol: SLC35A2
disease_id: OMIM:300896
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
gene_symbol: CYP27A1
disease_id: OMIM:213700
disease_name: CEREBROTENDINOUS XANTHOMATOSIS
gene_symbol: SLC35B2
disease_id: OMIM:620269
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA
gene_symbol: COG5
disease_id: OMIM:613612
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi
gene_symbol: SCN2A
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: SLC12A5
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: SLC12A5
disease_id: OMIM:616645
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34
gene_symbol: PLCB1
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: KCNT1
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: SLC25A22
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: SLC25A22
disease_id: OMIM:609304
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3
gene_symbol: TBC1D24
disease_id: ORPHA:293181
disease_name: Epilepsy of infancy with migrating focal seizures
EIMFS
Epilepsy with migrating focal seizure in infancy
MMPEI
MMPSI
MPEI
MPSI
Malignant migrating partial epilepsy of infancy
Malignant migrating partial seizures of infancy
Migrating partial epilepsy of infancy
Migrating partial seizures of infancy
gene_symbol: TBC1D24
disease_id: OMIM:220500
disease_name: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME
gene_symbol: TBC1D24
disease_id: OMIM:615338
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16
gene_symbol: FARS2
disease_id: OMIM:614946
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
gene_symbol: TARS2
disease_id: OMIM:615918
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: AP1B1
disease_id: OMIM:242150
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: MED27
disease_id: OMIM:619286
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
gene_symbol: PGAP1
disease_id: OMIM:615802
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
gene_symbol: RNF216
disease_id: OMIM:212840
disease_name: GORDON HOLMES SYNDROME
gene_symbol: BSCL2
disease_id: OMIM:615924
disease_name: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
gene_symbol: BSCL2
disease_id: ORPHA:363400
disease_name: Severe neurodegenerative syndrome with lipodystrophy
Severe neurodegenerative syndrome due to BSCL2 deficiency
gene_symbol: KIF26A
disease_id: OMIM:620156
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11
gene_symbol: COG1
disease_id: OMIM:611209
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg
gene_symbol: SPG21
disease_id: OMIM:248900
disease_name: MAST SYNDROME
gene_symbol: IRF2BPL
disease_id: OMIM:618088
disease_name: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
gene_symbol: PTCD3
disease_id: OMIM:619057
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51
gene_symbol: DARS2
disease_id: ORPHA:137898
disease_name: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
LBSL
Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: FGFR1
disease_id: ORPHA:2396
disease_name: Encephalocraniocutaneous lipomatosis
Haberland syndrome
gene_symbol: KRAS
disease_id: ORPHA:2396
disease_name: Encephalocraniocutaneous lipomatosis
Haberland syndrome
gene_symbol: TOE1
disease_id: OMIM:614969
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 7
gene_symbol: CTSD
disease_id: OMIM:610127
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 10
gene_symbol: MOGS
disease_id: OMIM:606056
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb
gene_symbol: FADD
disease_id: OMIM:613759
disease_name: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
gene_symbol: FADD
disease_id: ORPHA:306550
disease_name: FADD-related immunodeficiency
gene_symbol: CRLS1
disease_id: OMIM:620167
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57
gene_symbol: PCCA
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: PCCB
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: HACE1
disease_id: ORPHA:464282
disease_name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
SPPRS syndrome
Spastic paraplegia-psychomotor retardation-seizures syndrome
gene_symbol: HACE1
disease_id: OMIM:616756
disease_name: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES
gene_symbol: WFS1
disease_id: OMIM:222300
disease_name: WOLFRAM SYNDROME 1
gene_symbol: COX4I1
disease_id: OMIM:619060
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16
gene_symbol: TDP1
disease_id: OMIM:607250
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1
gene_symbol: WARS2
disease_id: ORPHA:572798
disease_name: WARS2-related combined oxidative phosphorylation defect
Mitochondrial tryptophanyl-tRNA synthetase deficiency
gene_symbol: WARS2
disease_id: OMIM:617710
disease_name: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES
gene_symbol: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
gene_symbol: PIGG
disease_id: OMIM:616917
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: ABCD4
disease_id: OMIM:614857
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: SMG9
disease_id: OMIM:616920
disease_name: HEART AND BRAIN MALFORMATION SYNDROME
gene_symbol: UNC80
disease_id: OMIM:616801
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
gene_symbol: LYRM7
disease_id: OMIM:615838
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
gene_symbol: FARSB
disease_id: OMIM:613658
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1
gene_symbol: PPP2R2B
disease_id: ORPHA:98762
disease_name: Spinocerebellar ataxia type 12
SCA12
gene_symbol: DDX3X
disease_id: ORPHA:3338
disease_name: Toriello-Carey syndrome
Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
gene_symbol: OFD1
disease_id: OMIM:311200
disease_name: OROFACIODIGITAL SYNDROME I
gene_symbol: IFIH1
disease_id: OMIM:615846
disease_name: AICARDI-GOUTIERES SYNDROME 7
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: EMC1
disease_id: ORPHA:480898
disease_name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
gene_symbol: EMC1
disease_id: OMIM:616875
disease_name: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
gene_symbol: SLC35C1
disease_id: ORPHA:99843
disease_name: Leukocyte adhesion deficiency type II
CDG syndrome type IIc
CDG-IIc
CDG2C
LAD-II
Rambam-Hasharon syndrome
SLC35C1-CDG
gene_symbol: MORC2
disease_id: OMIM:619090
disease_name: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: VPS53
disease_id: OMIM:615851
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E
gene_symbol: PEX19
disease_id: OMIM:614886
disease_name: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
gene_symbol: REPS1
disease_id: OMIM:617916
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7
gene_symbol: ATXN7
disease_id: ORPHA:94147
disease_name: Spinocerebellar ataxia type 7
Ataxia with pigmentary retinopathy
Cerebellar syndrome-pigmentary maculopathy syndrome
SCA7
gene_symbol: ATP6AP2
disease_id: OMIM:300423
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE
gene_symbol: COQ9
disease_id: OMIM:614654
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 5
gene_symbol: DHX30
disease_id: OMIM:617804
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
gene_symbol: VARS1
disease_id: OMIM:617802
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: TCTN3
disease_id: OMIM:258860
disease_name: OROFACIODIGITAL SYNDROME IV
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
gene_symbol: COG7
disease_id: OMIM:608779
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe
gene_symbol: RNASEH2B
disease_id: OMIM:610181
disease_name: AICARDI-GOUTIERES SYNDROME 2
gene_symbol: TPI1
disease_id: OMIM:615512
disease_name: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: SLC39A8
disease_id: OMIM:616721
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
gene_symbol: ADK
disease_id: OMIM:614300
disease_name: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
gene_symbol: SLC2A1
disease_id: OMIM:612126
disease_name: GLUT1 DEFICIENCY SYNDROME 2
gene_symbol: ADAM22
disease_id: OMIM:617933
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: PDHX
disease_id: ORPHA:255182
disease_name: Pyruvate dehydrogenase E3-binding protein deficiency
2-oxoglutarate complex deficiency
Branched chain alpha-ketoacid dehydrogenase complex deficiency
Diaphorase deficiency
Dihydrolipoyl dehydrogenase deficiency
Glycine cleavage system L protein deficiency
Lipoamide dehydrogenase deficiency
Pyruvate dehydrogenase complex component E3 deficiency
Pyruvate dehydrogenase protein X component deficiency
gene_symbol: FGF13
disease_id: OMIM:301058
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90
gene_symbol: CTDP1
disease_id: OMIM:604168
disease_name: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
gene_symbol: AIFM1
disease_id: ORPHA:83629
disease_name: Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
H-SMD
Hypomyelination-spondyloepimetaphyseal dysplasia syndrome
Leukoencephalopathy-SEMD syndrome
Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
gene_symbol: QARS1
disease_id: OMIM:615760
disease_name: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
gene_symbol: PDHA1
disease_id: OMIM:312170
disease_name: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
gene_symbol: PDHA1
disease_id: ORPHA:79243
disease_name: Pyruvate dehydrogenase E1-alpha deficiency
PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
gene_symbol: DPYD
disease_id: OMIM:274270
disease_name: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
gene_symbol: DPYD
disease_id: ORPHA:1675
disease_name: Dihydropyrimidine dehydrogenase deficiency
Familial pyrimidinemia
gene_symbol: EXOSC3
disease_id: OMIM:614678
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
gene_symbol: TRPM7
disease_id: OMIM:105500
disease_name: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1
gene_symbol: GRIA2
disease_id: OMIM:618917
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
gene_symbol: ZC4H2
disease_id: OMIM:314580
disease_name: WIEACKER-WOLFF SYNDROME
gene_symbol: FRRS1L
disease_id: OMIM:616981
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37
gene_symbol: SPTAN1
disease_id: OMIM:613477
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5
gene_symbol: EPRS1
disease_id: OMIM:617951
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 15
gene_symbol: TSEN2
disease_id: OMIM:612389
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B
gene_symbol: GRM7
disease_id: OMIM:618922
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
gene_symbol: DSE
disease_id: OMIM:615539
disease_name: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2
gene_symbol: LONP1
disease_id: ORPHA:79243
disease_name: Pyruvate dehydrogenase E1-alpha deficiency
PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
gene_symbol: POLA1
disease_id: OMIM:301030
disease_name: VAN ESCH-O'DRISCOLL SYNDROME
gene_symbol: COG6
disease_id: OMIM:614576
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
gene_symbol: AGA
disease_id: OMIM:208400
disease_name: ASPARTYLGLUCOSAMINURIA
gene_symbol: COG4
disease_id: OMIM:613489
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
gene_symbol: TANGO2
disease_id: OMIM:616878
disease_name: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
gene_symbol: OSGEP
disease_id: OMIM:617729
disease_name: GALLOWAY-MOWAT SYNDROME 3
gene_symbol: DOCK6
disease_id: OMIM:614219
disease_name: ADAMS-OLIVER SYNDROME 2
gene_symbol: FLI1
disease_id: ORPHA:2308
disease_name: Jacobsen syndrome
11q terminal deletion syndrome
Chromosome 11q deletion syndrome
Del(11)(q23.3)
Del(11)(qter)
Distal deletion 11q
Distal monosomy 11q
Monosomy 11qter
Telomeric deletion 11q
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: TP53RK
disease_id: OMIM:617730
disease_name: GALLOWAY-MOWAT SYNDROME 4
gene_symbol: LIAS
disease_id: OMIM:614462
disease_name: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
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: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: MYT1L
disease_id: OMIM:616521
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
gene_symbol: ITPA
disease_id: OMIM:616647
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35
gene_symbol: RTTN
disease_id: ORPHA:468631
disease_name: Microcephalic cortical malformations-short stature due to RTTN deficiency
gene_symbol: C9orf72
disease_id: OMIM:105550
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1
gene_symbol: COL18A1
disease_id: OMIM:267750
disease_name: KNOBLOCH SYNDROME 1
gene_symbol: SLC1A4
disease_id: OMIM:616657
disease_name: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
gene_symbol: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: MAF
disease_id: OMIM:601088
disease_name: AYME-GRIPP SYNDROME
gene_symbol: ACY1
disease_id: OMIM:609924
disease_name: AMINOACYLASE 1 DEFICIENCY
gene_symbol: TRIT1
disease_id: OMIM:617873
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35
gene_symbol: PYCR2
disease_id: OMIM:616420
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 10
gene_symbol: SLC17A5
disease_id: OMIM:269920
disease_name: INFANTILE SIALIC ACID STORAGE DISEASE
gene_symbol: SLC33A1
disease_id: OMIM:614482
disease_name: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
gene_symbol: IBA57
disease_id: OMIM:615330
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
gene_symbol: STAG1
disease_id: OMIM:617635
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47
gene_symbol: PPT1
disease_id: OMIM:256730
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 1
gene_symbol: GOT2
disease_id: OMIM:618721
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: KCNMA1
disease_id: OMIM:618729
disease_name: LIANG-WANG SYNDROME
gene_symbol: GCDH
disease_id: OMIM:231670
disease_name: GLUTARIC ACIDEMIA I
gene_symbol: MECP2
disease_id: ORPHA:209370
disease_name: Severe neonatal-onset encephalopathy with microcephaly
Severe congenital encephalopathy due to MECP2 mutation
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: TYROBP
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: TREM2
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: ACER3
disease_id: OMIM:617762
disease_name: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
gene_symbol: GRIN1
disease_id: OMIM:614254
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
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: MARS2
disease_id: OMIM:616430
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
gene_symbol: CARS2
disease_id: OMIM:616672
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
gene_symbol: PUF60
disease_id: OMIM:615583
disease_name: VERHEIJ SYNDROME
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: TUBGCP6
disease_id: OMIM:251270
disease_name: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1
gene_symbol: KIF1A
disease_id: OMIM:614255
disease_name: NESCAV SYNDROME
gene_symbol: FASTKD2
disease_id: OMIM:618855
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44
gene_symbol: CIZ1
disease_id: ORPHA:420492
disease_name: Adult-onset cervical dystonia, DYT23 type
DYT23
Dystonia 23
gene_symbol: CHCHD10
disease_id: OMIM:615911
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
gene_symbol: BRAF
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: NDE1
disease_id: ORPHA:2177
disease_name: Hydranencephaly
gene_symbol: UGP2
disease_id: OMIM:618744
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83
gene_symbol: POU4F1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: CAMTA1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: PPFIBP1
disease_id: OMIM:620024
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES
gene_symbol: ADA2
disease_id: ORPHA:820
disease_name: Sneddon syndrome
Ehrmann-Sneddon syndrome
Livedo racemosa-cerebrovascular accident syndrome
Livedo reticularis-cerebrovascular accident syndrome
gene_symbol: SPG7
disease_id: ORPHA:99013
disease_name: Spastic paraplegia type 7
SPG7
gene_symbol: SPG7
disease_id: OMIM:607259
disease_name: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
gene_symbol: MAN2B1
disease_id: ORPHA:309282
disease_name: Alpha-mannosidosis, infantile form
Lysosomal alpha-D-mannosidase deficiency, infantile form
gene_symbol: MAN2B1
disease_id: ORPHA:309288
disease_name: Alpha-mannosidosis, adult form
Lysosomal alpha-D-mannosidase deficiency, adult form
gene_symbol: MAN2B1
disease_id: OMIM:248500
disease_name: MANNOSIDOSIS, ALPHA B, LYSOSOMAL
gene_symbol: TRAPPC12
disease_id: ORPHA:500144
disease_name: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome
PEBAS
gene_symbol: TRAPPC12
disease_id: OMIM:617669
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
gene_symbol: TMEM70
disease_id: ORPHA:1194
disease_name: TMEM70-related mitochondrial encephalo-cardio-myopathy
Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: H3-3A
disease_id: OMIM:619720
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: CTSF
disease_id: OMIM:615362
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 13
gene_symbol: LIPT2
disease_id: OMIM:617668
disease_name: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
gene_symbol: GON7
disease_id: OMIM:619603
disease_name: GALLOWAY-MOWAT SYNDROME 9
gene_symbol: AP4E1
disease_id: OMIM:613744
disease_name: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
gene_symbol: AP4E1
disease_id: ORPHA:280763
disease_name: Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
gene_symbol: CLP1
disease_id: OMIM:615803
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 10
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: AMPD2
disease_id: OMIM:615809
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
gene_symbol: PIGV
disease_id: OMIM:239300
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
gene_symbol: FBLN1
disease_id: ORPHA:404451
disease_name: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
gene_symbol: APOE
disease_id: OMIM:607822
disease_name: ALZHEIMER DISEASE 3
gene_symbol: PSEN1
disease_id: OMIM:607822
disease_name: ALZHEIMER DISEASE 3
gene_symbol: PSEN1
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: MBTPS2
disease_id: ORPHA:2273
disease_name: Ichthyosis follicularis-alopecia-photophobia syndrome
IFAP syndrome
Ichthyosis follicularis-atrichia-photophobia syndrome
gene_symbol: ALDH18A1
disease_id: OMIM:616586
disease_name: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
gene_symbol: ALDH18A1
disease_id: ORPHA:447760
disease_name: Autosomal recessive spastic paraplegia type 9B
AR-SPG9B
gene_symbol: MT-ATP8
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1E
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1D
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1A
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: MT-ATP6
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: MT-ATP6
disease_id: ORPHA:644
disease_name: NARP syndrome
Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
Neuropathy-ataxia-retinitis pigmentosa syndrome
gene_symbol: ATP5MK
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATPAF2
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ZNHIT3
disease_id: ORPHA:2836
disease_name: PEHO syndrome
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
gene_symbol: SIX3
disease_id: OMIM:269160
disease_name: SCHIZENCEPHALY
gene_symbol: EMX2
disease_id: OMIM:269160
disease_name: SCHIZENCEPHALY
gene_symbol: PEX7
disease_id: OMIM:215100
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
gene_symbol: FMR1
disease_id: ORPHA:93256
disease_name: Fragile X-associated tremor/ataxia syndrome
FXTAS syndrome
gene_symbol: FMR1
disease_id: ORPHA:908
disease_name: Fragile X syndrome
FRAXA syndrome
FXS
FraX syndrome
Martin-Bell syndrome
gene_symbol: ATP13A2
disease_id: ORPHA:513436
disease_name: Autosomal recessive spastic paraplegia type 78
SPG78
gene_symbol: ATP13A2
disease_id: ORPHA:306674
disease_name: Kufor-Rakeb syndrome
PARK9
gene_symbol: ATP13A2
disease_id: OMIM:617225
disease_name: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
gene_symbol: BMP4
disease_id: OMIM:607932
disease_name: MICROPHTHALMIA, SYNDROMIC 6
gene_symbol: SNX14
disease_id: OMIM:616354
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
gene_symbol: GLYCTK
disease_id: OMIM:220120
disease_name: D-GLYCERIC ACIDURIA
gene_symbol: ABCA7
disease_id: OMIM:608907
disease_name: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO
gene_symbol: ABCA7
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: RNASEH1
disease_id: OMIM:616479
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2
gene_symbol: SPG11
disease_id: ORPHA:2822
disease_name: Autosomal recessive spastic paraplegia type 11
Nakamura-Osame syndrome
SPG11
Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
gene_symbol: SPG11
disease_id: OMIM:604360
disease_name: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
gene_symbol: ATP8A2
disease_id: OMIM:615268
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: MUC1
disease_id: OMIM:174000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2
gene_symbol: JPH3
disease_id: ORPHA:98934
disease_name: Huntington disease-like 2
HDL2
gene_symbol: JPH3
disease_id: OMIM:606438
disease_name: HUNTINGTON DISEASE-LIKE 2
gene_symbol: EXOC7
disease_id: OMIM:619072
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
gene_symbol: BUB1
disease_id: OMIM:620183
disease_name: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: DPAGT1
disease_id: ORPHA:86309
disease_name: DPAGT1-CDG
CDG syndrome type Ij
CDG-Ij
CDG1J
Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type 1j
Congenital disorder of glycosylation type Ij
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: NCF1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EXOSC8
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: EXOSC8
disease_id: OMIM:616081
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
gene_symbol: AGTPBP1
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: VRK1
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: VRK1
disease_id: OMIM:607596
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A
gene_symbol: SLC25A46
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: MDH2
disease_id: OMIM:617339
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51
gene_symbol: PRKCZ
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: GABRD
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: SPEN
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: MMP23B
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: LUZP1
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: SKI
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: PDPN
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: HSPG2
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: UBE4B
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: KCNAB2
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: RERE
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: PRDM16
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: CASZ1
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: CISD2
disease_id: ORPHA:3463
disease_name: Wolfram syndrome
Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome
Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome
DIDMOAD syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome
gene_symbol: UBE3A
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: SNRPN
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: SNRPN
disease_id: ORPHA:177907
disease_name: Prader-Willi syndrome due to translocation
gene_symbol: DYRK1A
disease_id: ORPHA:464311
disease_name: Intellectual disability syndrome due to a DYRK1A point mutation
DYRK1A-related intellectual disability syndrome due to a point mutation
gene_symbol: DYRK1A
disease_id: ORPHA:268261
disease_name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
gene_symbol: DYRK1A
disease_id: OMIM:614104
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
gene_symbol: PANK2
disease_id: OMIM:234200
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
gene_symbol: GRN
disease_id: OMIM:607485
disease_name: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
gene_symbol: POLR3A
disease_id: ORPHA:447896
disease_name: Tremor-ataxia-central hypomyelination syndrome
TACH syndrome
gene_symbol: POLR3A
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: IKBKG
disease_id: ORPHA:464
disease_name: Incontinentia pigmenti
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
gene_symbol: MYO5A
disease_id: ORPHA:33445
disease_name: Neuroectodermal melanolysosomal disease
Elejalde neuroectodermal melanolysosomal disease
gene_symbol: OTUD6B
disease_id: ORPHA:505237
disease_name: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
gene_symbol: PRNP
disease_id: ORPHA:157941
disease_name: Huntington disease-like 1
Early-onset prion disease with prominent psychiatric features
HDL1
gene_symbol: PCDHGC4
disease_id: OMIM:619880
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
gene_symbol: TMCO1
disease_id: ORPHA:1394
disease_name: Cerebrofaciothoracic dysplasia
Pascual-Castroviejo syndrome type 1
gene_symbol: MINPP1
disease_id: OMIM:619527
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 16
gene_symbol: ATXN2
disease_id: ORPHA:98756
disease_name: Spinocerebellar ataxia type 2
SCA2
gene_symbol: CASK
disease_id: ORPHA:163937
disease_name: X-linked intellectual disability, Najm type
MICPCH
X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
gene_symbol: RNF125
disease_id: OMIM:616260
disease_name: TENORIO SYNDROME
gene_symbol: RAB3GAP2
disease_id: ORPHA:1387
disease_name: Cataract-intellectual disability-hypogonadism syndrome
Martsolf syndrome
gene_symbol: RAB3GAP2
disease_id: ORPHA:401830
disease_name: Autosomal recessive spastic paraplegia type 69
SPG69
gene_symbol: RAB3GAP2
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: NIPBL
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: TSEN54
disease_id: OMIM:277470
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A
gene_symbol: PSEN2
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: TOMM40
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: APP
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: SORL1
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC2
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: OMIM:234050
disease_name: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RTEL1
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: ACD
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: PARN
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: TERT
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: TINF2
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: DKC1
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: ALG8
disease_id: ORPHA:79325
disease_name: ALG8-CDG
CDG syndrome type Ih
CDG-Ih
CDG1H
Carbohydrate deficient glycoprotein syndrome type Ih
Congenital disorder of glycosylation type 1h
Congenital disorder of glycosylation type Ih
Glucosyltransferase 2 deficiency
gene_symbol: GNAQ
disease_id: ORPHA:3205
disease_name: Sturge-Weber syndrome
Encephalofacial angiomatosis
Encephalotrigeminal angiomatosis
SWS
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
gene_symbol: GNAQ
disease_id: OMIM:185300
disease_name: STURGE-WEBER SYNDROME
gene_symbol: TRRAP
disease_id: OMIM:618454
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
gene_symbol: B4GALNT1
disease_id: OMIM:609195
disease_name: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
gene_symbol: B4GALNT1
disease_id: ORPHA:101006
disease_name: Autosomal recessive spastic paraplegia type 26
GM2 synthase deficiency
SPG26
gene_symbol: POLG2
disease_id: OMIM:619425
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE)
gene_symbol: EPG5
disease_id: ORPHA:1493
disease_name: Vici syndrome
Corpus callosum agenesis-cataract-immunodeficiency syndrome
Dionisi-Vici-Sabetta-Gambarara syndrome
gene_symbol: TRIM8
disease_id: OMIM:619428
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME
gene_symbol: XPA
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPC
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: DDB2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC4
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC5
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC5
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: POLR3B
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: MT-TF
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TQ
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO3
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TW
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND5
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND6
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND4
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TS1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TS2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TH
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: GPKOW
disease_id: ORPHA:2570
disease_name: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Morse-Rawnsley-Sargent syndrome
gene_symbol: HERC1
disease_id: OMIM:617011
disease_name: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
gene_symbol: HERC1
disease_id: ORPHA:457359
disease_name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
gene_symbol: VPS13C
disease_id: OMIM:616840
disease_name: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: NUP133
disease_id: OMIM:618349
disease_name: GALLOWAY-MOWAT SYNDROME 8
gene_symbol: EHMT1
disease_id: ORPHA:96147
disease_name: Kleefstra syndrome due to 9q34 microdeletion
9q subtelomeric deletion syndrome
9qSTDS
Kleefstra syndrome due to 9q subtelomeric deletion
Kleefstra syndrome due to del(9)(q34)
Kleefstra syndrome due to monosomy 9q34
gene_symbol: ALS2
disease_id: OMIM:606353
disease_name: PRIMARY LATERAL SCLEROSIS, JUVENILE
gene_symbol: MMADHC
disease_id: OMIM:277410
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
gene_symbol: SLC39A4
disease_id: ORPHA:37
disease_name: Acrodermatitis enteropathica
AEZ
Acrodermatitis enteropathica, zinc deficiency type
Inherited zinc deficiency
gene_symbol: TSEN15
disease_id: OMIM:617026
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: CDC42
disease_id: OMIM:616737
disease_name: TAKENOUCHI-KOSAKI SYNDROME
gene_symbol: ACO2
disease_id: OMIM:614559
disease_name: INFANTILE CEREBELLAR-RETINAL DEGENERATION
gene_symbol: EIF2B4
disease_id: OMIM:620314
disease_name: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4
gene_symbol: SLC25A15
disease_id: ORPHA:415
disease_name: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
HHH syndrome
ORNT1 deficiency
Ornithine carrier deficiency
Ornithine translocase deficiency
Triple H syndrome
gene_symbol: SLC25A15
disease_id: OMIM:238970
disease_name: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
gene_symbol: TBCD
disease_id: ORPHA:496641
disease_name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
gene_symbol: GMPPB
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: FKRP
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: POMT2
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: POMT2
disease_id: OMIM:613156
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2
gene_symbol: LARGE1
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: POMT1
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: EXOSC5
disease_id: OMIM:619576
disease_name: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
gene_symbol: RHOBTB2
disease_id: OMIM:618004
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64
gene_symbol: AFG2A
disease_id: ORPHA:457351
disease_name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome
gene_symbol: ERCC1
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: GDAP2
disease_id: OMIM:618369
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27
gene_symbol: MED11
disease_id: OMIM:620327
disease_name: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
gene_symbol: DNAJC13
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: EIF4G1
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: VPS35
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: LRRK2
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: GIGYF2
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: SNCA
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: MAP2K1
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: MAP2K2
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: GET4
disease_id: OMIM:620200
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy
gene_symbol: OCLN
disease_id: ORPHA:1229
disease_name: Congenital intrauterine infection-like syndrome
BLC-PMG
Baraitser-Brett-Piesowicz syndrome
Baraitser-Reardon syndrome
Bilateral band-like calcification with polymicrogyria
Microcephaly-intracranial calcification-intellectual disability syndrome
Pseudo-TORCH syndrome
gene_symbol: FRMPD4
disease_id: OMIM:300983
disease_name: MENTAL RETARDATION, X-LINKED 104
gene_symbol: TRAPPC9
disease_id: ORPHA:352530
disease_name: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Autosomal recessive intellectual disability due to TRAPPC9 deficiency
gene_symbol: TBC1D20
disease_id: OMIM:615663
disease_name: WARBURG MICRO SYNDROME 4
gene_symbol: TBC1D20
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC3
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC1A
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: PTDSS1
disease_id: OMIM:151050
disease_name: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
gene_symbol: USH2A
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: PDZD7
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: MYO7A
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: MYO7A
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: WHRN
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: ADGRV1
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: RPS6KA3
disease_id: ORPHA:192
disease_name: Coffin-Lowry syndrome
CLS
gene_symbol: CPLX1
disease_id: OMIM:617976
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63
gene_symbol: RAB18
disease_id: OMIM:614222
disease_name: WARBURG MICRO SYNDROME 3
gene_symbol: RAB18
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: CWC27
disease_id: OMIM:250410
disease_name: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES
gene_symbol: CWC27
disease_id: ORPHA:166035
disease_name: Brachydactyly-short stature-retinitis pigmentosa syndrome
gene_symbol: AP1S2
disease_id: ORPHA:1568
disease_name: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Pettigrew Syndrome
gene_symbol: GUF1
disease_id: OMIM:617065
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40
gene_symbol: TRAPPC6B
disease_id: OMIM:617862
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY
gene_symbol: ZSWIM6
disease_id: OMIM:617865
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
gene_symbol: GRIA4
disease_id: OMIM:617864
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
gene_symbol: FA2H
disease_id: ORPHA:171629
disease_name: Autosomal recessive spastic paraplegia type 35
SPG35
gene_symbol: SHQ1
disease_id: OMIM:619922
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
gene_symbol: ELOVL4
disease_id: OMIM:133190
disease_name: SPINOCEREBELLAR ATAXIA 34
gene_symbol: HIC1
disease_id: ORPHA:531
disease_name: Miller-Dieker syndrome
Lissencephaly due to 17p13.3 deletion
Monosomy 17p13.3
Telomeric deletion 17p
gene_symbol: PAFAH1B1
disease_id: ORPHA:531
disease_name: Miller-Dieker syndrome
Lissencephaly due to 17p13.3 deletion
Monosomy 17p13.3
Telomeric deletion 17p
gene_symbol: YWHAE
disease_id: ORPHA:531
disease_name: Miller-Dieker syndrome
Lissencephaly due to 17p13.3 deletion
Monosomy 17p13.3
Telomeric deletion 17p
gene_symbol: AP4B1
disease_id: ORPHA:280763
disease_name: Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
gene_symbol: AP4M1
disease_id: ORPHA:280763
disease_name: Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
gene_symbol: AP4S1
disease_id: ORPHA:280763
disease_name: Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
gene_symbol: CHMP2B
disease_id: OMIM:600795
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7
gene_symbol: NEXMIF
disease_id: ORPHA:85277
disease_name: X-linked intellectual disability, Cantagrel type
gene_symbol: SLC9A6
disease_id: ORPHA:85278
disease_name: Christianson syndrome
X-linked Angelman-like syndrome
gene_symbol: CACNA1E
disease_id: OMIM:618285
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69
gene_symbol: CLN5
disease_id: OMIM:256731
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 5
gene_symbol: TUBGCP4
disease_id: ORPHA:2518
disease_name: Autosomal recessive chorioretinopathy-microcephaly syndrome
Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
gene_symbol: RMND1
disease_id: OMIM:614922
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
gene_symbol: NDP
disease_id: ORPHA:649
disease_name: Norrie disease
Atrophia bulborum hereditaria
Episkopi blindness
Norrie-Warburg disease
gene_symbol: ACTG1
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: ACTB
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: GOLGA2
disease_id: OMIM:620240
disease_name: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES
gene_symbol: BICD2
disease_id: OMIM:618291
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
gene_symbol: CDH23
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: USH1C
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: USH1G
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: ESPN
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: CIB2
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: PCDH15
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: EXOSC2
disease_id: OMIM:617763
disease_name: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
gene_symbol: PHACTR1
disease_id: OMIM:618298
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70
gene_symbol: NOVA2
disease_id: OMIM:618859
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: TBK1
disease_id: OMIM:616439
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
gene_symbol: PLAA
disease_id: OMIM:617527
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
gene_symbol: ARX
disease_id: ORPHA:2508
disease_name: Corpus callosum agenesis-abnormal genitalia syndrome
ACC-abnormal genitalia syndrome
Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
Proud syndrome
Proud-Levine-Carpenter syndrome
gene_symbol: SQSTM1
disease_id: OMIM:616437
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: RNU12
disease_id: ORPHA:512260
disease_name: Congenital cerebellar ataxia due to RNU12 mutation
gene_symbol: HTRA1
disease_id: ORPHA:199354
disease_name: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
CARASIL
Maeda syndrome
gene_symbol: KARS1
disease_id: ORPHA:3240
disease_name: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome
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: VPS16
disease_id: OMIM:619291
disease_name: DYSTONIA 30
gene_symbol: UQCRC1
disease_id: OMIM:619279
disease_name: PARKINSONISM WITH POLYNEUROPATHY
gene_symbol: COG2
disease_id: OMIM:617395
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq
gene_symbol: COG2
disease_id: ORPHA:435934
disease_name: COG2-CDG
COG2-related congenital disorder of glycosylation
gene_symbol: BTD
disease_id: OMIM:253260
disease_name: BIOTINIDASE DEFICIENCY
gene_symbol: GALC
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: GALC
disease_id: OMIM:245200
disease_name: KRABBE DISEASE
gene_symbol: PSAP
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: PMPCA
disease_id: ORPHA:1170
disease_name: Autosomal recessive cerebelloparenchymal disorder type 3
Autosomal recessive spinocerebellar ataxia type 2
SCAR2
gene_symbol: FDXR
disease_id: ORPHA:543470
disease_name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
gene_symbol: GRIN2A
disease_id: ORPHA:289266
disease_name: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
gene_symbol: PRKAR1B
disease_id: ORPHA:412066
disease_name: PRKAR1B-related neurodegenerative dementia with intermediate filaments
gene_symbol: DCDC2
disease_id: ORPHA:84081
disease_name: Senior-Boichis syndrome
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
gene_symbol: TMEM67
disease_id: ORPHA:84081
disease_name: Senior-Boichis syndrome
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
gene_symbol: MED17
disease_id: OMIM:613668
disease_name: MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
gene_symbol: CDKL5
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: KCNA1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PIGQ
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SIK1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: DMXL2
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PNKP
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PIGP
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SCN1B
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: TBP
disease_id: OMIM:607136
disease_name: SPINOCEREBELLAR ATAXIA 17
gene_symbol: TIAM1
disease_id: OMIM:619908
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: TMEM106B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TMEM106B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: VCP
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: VCP
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: MEF2C
disease_id: ORPHA:228384
disease_name: 5q14.3 microdeletion syndrome
Del(5)(q14.3)
Monosomy 5q14.3
gene_symbol: GRIA3
disease_id: OMIM:300699
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE
gene_symbol: OPHN1
disease_id: ORPHA:137831
disease_name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OPHN1 syndrome
Oligophrenin-1 syndrome
gene_symbol: SCYL2
disease_id: OMIM:618766
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM
gene_symbol: HIVEP2
disease_id: OMIM:616977
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
gene_symbol: CYB5A
disease_id: ORPHA:621
disease_name: Hereditary methemoglobinemia
Autosomal recessive methemoglobinemia
Congenital methemoglobinemia
gene_symbol: CYB5R3
disease_id: ORPHA:621
disease_name: Hereditary methemoglobinemia
Autosomal recessive methemoglobinemia
Congenital methemoglobinemia
gene_symbol: SCN9A
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: STX1B
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: PRRT2
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: CPA6
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: PDE6D
disease_id: OMIM:615665
disease_name: JOUBERT SYNDROME 22
gene_symbol: ADARB1
disease_id: OMIM:618862
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES
gene_symbol: STUB1
disease_id: ORPHA:412057
disease_name: Autosomal recessive cerebellar ataxia due to STUB1 deficiency
SCAR16
Spinocerebellar ataxia autosomal recessive type 16
gene_symbol: NDN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: NDN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: NDN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: MAGEL2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: MAGEL2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: MAGEL2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: OCA2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: OCA2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: OCA2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: SACS
disease_id: ORPHA:98
disease_name: Autosomal recessive spastic ataxia of Charlevoix-Saguenay
ARSACS
Autosomal recessive spastic ataxia type 6
SPAX6
gene_symbol: KDM5A
disease_id: OMIM:620820
disease_name: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME
gene_symbol: TMEM147
disease_id: OMIM:620075
disease_name: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY
gene_symbol: DOCK7
disease_id: ORPHA:411986
disease_name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
gene_symbol: RNU4ATAC
disease_id: ORPHA:353298
disease_name: Roifman syndrome
Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: NEK1
disease_id: OMIM:617892
disease_name: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24
gene_symbol: SLITRK2
disease_id: OMIM:301107
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111