Phenotype: Cerebellar atrophy (HP:0001272)
Associated genes and diseases:
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: ATXN3
disease_id: OMIM:109150
disease_name: MACHADO-JOSEPH DISEASE
gene_symbol: ATXN3
disease_id: ORPHA:276238
disease_name: Machado-Joseph disease type 1
SCA3, Joseph type
Spinocerebellar ataxia type 3, Joseph type
gene_symbol: ATXN3
disease_id: ORPHA:276244
disease_name: Machado-Joseph disease type 3
SCA3, Machado type
Spinocerebellar ataxia type 3, Machado type
gene_symbol: ATXN3
disease_id: ORPHA:276241
disease_name: Machado-Joseph disease type 2
SCA3, Thomas type
Spinocerebellar ataxia, Thomas type
gene_symbol: PLD3
disease_id: OMIM:617770
disease_name: SPINOCEREBELLAR ATAXIA 46
gene_symbol: POLR3B
disease_id: OMIM:614381
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: POLR3B
disease_id: OMIM:619742
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I
gene_symbol: POLR3B
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: MAG
disease_id: OMIM:616680
disease_name: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
gene_symbol: TRAPPC4
disease_id: OMIM:618741
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY
gene_symbol: STT3A
disease_id: OMIM:615596
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw
gene_symbol: STT3A
disease_id: ORPHA:370921
disease_name: STT3A-CDG
CDG syndrome type Iw
CDG-Iw
CDG1W
Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type Iw
gene_symbol: VPS11
disease_id: OMIM:616683
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 12
gene_symbol: VPS11
disease_id: ORPHA:466934
disease_name: VPS11-related autosomal recessive hypomyelinating leukodystrophy
VPS11-related autosomal recessive hypomyelinating leukoencephalopathy
gene_symbol: UFM1
disease_id: OMIM:617899
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 14
gene_symbol: SLC44A1
disease_id: OMIM:618868
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE
gene_symbol: GRID2
disease_id: OMIM:616204
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
gene_symbol: SOX4
disease_id: OMIM:618506
disease_name: COFFIN-SIRIS SYNDROME 10
gene_symbol: STT3B
disease_id: OMIM:615597
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix
gene_symbol: STT3B
disease_id: ORPHA:370924
disease_name: STT3B-CDG
CDG syndrome type Ix
CDG-Ix
CDG1X
Carbohydrate deficient glycoprotein syndrome type Ix
Congenital disorder of glycosylation type 1x
Congenital disorder of glycosylation type Ix
gene_symbol: TRAPPC11
disease_id: OMIM:615356
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18
gene_symbol: NOTCH2NLC
disease_id: OMIM:618866
disease_name: TREMOR, HEREDITARY ESSENTIAL, 6
gene_symbol: CLPB
disease_id: OMIM:619835
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA
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: 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:604121
disease_name: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
gene_symbol: WDR73
disease_id: OMIM:251300
disease_name: GALLOWAY-MOWAT SYNDROME 1
gene_symbol: ATP6AP2
disease_id: ORPHA:93952
disease_name: X-linked intellectual disability, Hedera type
MRXSH
gene_symbol: ATP6AP2
disease_id: OMIM:300423
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE
gene_symbol: PPP2R2B
disease_id: OMIM:604326
disease_name: SPINOCEREBELLAR ATAXIA 12
gene_symbol: PPP2R2B
disease_id: ORPHA:98762
disease_name: Spinocerebellar ataxia type 12
SCA12
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: 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: PNPLA6
disease_id: ORPHA:139480
disease_name: Autosomal recessive spastic paraplegia type 39
SPG39
Spastic paraplegia due to NTE mutation
Spastic paraplegia due to neuropathy target esterase mutation
gene_symbol: PNPLA6
disease_id: OMIM:215470
disease_name: BOUCHER-NEUHAUSER SYNDROME
gene_symbol: PNPLA6
disease_id: OMIM:612020
disease_name: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
gene_symbol: MRPS34
disease_id: OMIM:617664
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
gene_symbol: KATNB1
disease_id: OMIM:616212
disease_name: LISSENCEPHALY 6 WITH MICROCEPHALY
gene_symbol: KATNB1
disease_id: ORPHA:89844
disease_name: Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A
gene_symbol: CTSF
disease_id: OMIM:615362
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 13
gene_symbol: NOP56
disease_id: OMIM:614153
disease_name: SPINOCEREBELLAR ATAXIA 36
gene_symbol: COQ8A
disease_id: ORPHA:139485
disease_name: Autosomal recessive ataxia due to ubiquinone deficiency
ARCA2
Autosomal recessive ataxia due to coenzyme Q10 deficiency
Autosomal recessive cerebellar ataxia type 2
Autosomal recessive spinocerebellar ataxia type 9
SCAR9
gene_symbol: COQ8A
disease_id: OMIM:612016
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 4
gene_symbol: PIGK
disease_id: OMIM:618879
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES
gene_symbol: ATP1A2
disease_id: OMIM:619605
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98
gene_symbol: ATP1A2
disease_id: OMIM:602481
disease_name: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
gene_symbol: ATP1A2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: ATP1A3
disease_id: OMIM:619606
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99
gene_symbol: ATP1A3
disease_id: ORPHA:71517
disease_name: Rapid-onset dystonia-parkinsonism
DYT12
Dystonia 12
gene_symbol: HMBS
disease_id: OMIM:620711
disease_name: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED
gene_symbol: SEMA6B
disease_id: OMIM:618876
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 11
gene_symbol: GON7
disease_id: OMIM:619603
disease_name: GALLOWAY-MOWAT SYNDROME 9
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: TTBK2
disease_id: OMIM:604432
disease_name: SPINOCEREBELLAR ATAXIA 11
gene_symbol: SAMD9L
disease_id: OMIM:159550
disease_name: ATAXIA-PANCYTOPENIA SYNDROME
gene_symbol: SAMD9L
disease_id: ORPHA:2585
disease_name: Ataxia-pancytopenia syndrome
Myelocerebellar disorder
gene_symbol: SAMD9L
disease_id: OMIM:619806
disease_name: SPINOCEREBELLAR ATAXIA 49
gene_symbol: FKRP
disease_id: OMIM:606612
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5
gene_symbol: FKRP
disease_id: ORPHA:370980
disease_name: Congenital muscular dystrophy without intellectual disability
CMD without intellectual disability
CMD-no MR
Congenital muscular dystrophy-dystroglycanopathy without intellectual disability
gene_symbol: ATP6V0A1
disease_id: OMIM:619971
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY
gene_symbol: UCHL1
disease_id: OMIM:615491
disease_name: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
gene_symbol: TUBB2B
disease_id: ORPHA:300573
disease_name: Polymicrogyria due to TUBB2B mutation
gene_symbol: UBTF
disease_id: OMIM:617672
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
gene_symbol: CAMK2B
disease_id: OMIM:617799
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
gene_symbol: WARS2
disease_id: OMIM:619738
disease_name: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET
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: SLC19A1
disease_id: OMIM:620603
disease_name: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE
gene_symbol: HTT
disease_id: OMIM:617435
disease_name: LOPES-MACIEL-RODAN SYNDROME
gene_symbol: HTT
disease_id: OMIM:143100
disease_name: HUNTINGTON DISEASE
gene_symbol: HTT
disease_id: ORPHA:248111
disease_name: Juvenile Huntington disease
JHD
Juvenile Huntington chorea
gene_symbol: VLDLR
disease_id: OMIM:224050
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1
gene_symbol: ZNHIT3
disease_id: ORPHA:2836
disease_name: PEHO syndrome
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
gene_symbol: ZNHIT3
disease_id: OMIM:260565
disease_name: PEHO SYNDROME
gene_symbol: DEGS1
disease_id: OMIM:618404
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 18
gene_symbol: AFG3L2
disease_id: ORPHA:313772
disease_name: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Autosomal recessive spastic ataxia type 5
SPAX5
gene_symbol: AFG3L2
disease_id: OMIM:610246
disease_name: SPINOCEREBELLAR ATAXIA 28
gene_symbol: AFG3L2
disease_id: OMIM:614487
disease_name: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: TGM6
disease_id: ORPHA:276193
disease_name: Spinocerebellar ataxia type 35
SCA35
gene_symbol: TGM6
disease_id: OMIM:613908
disease_name: SPINOCEREBELLAR ATAXIA 35
gene_symbol: CERS1
disease_id: OMIM:616230
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 8
gene_symbol: NKX6-2
disease_id: OMIM:617560
disease_name: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
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: PRDX3
disease_id: OMIM:619862
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32
gene_symbol: GLS
disease_id: OMIM:618412
disease_name: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE
gene_symbol: SPTBN2
disease_id: OMIM:615386
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
gene_symbol: SPTBN2
disease_id: OMIM:600224
disease_name: SPINOCEREBELLAR ATAXIA 5
gene_symbol: SPTBN2
disease_id: ORPHA:98766
disease_name: Spinocerebellar ataxia type 5
SCA5
gene_symbol: SPTBN2
disease_id: ORPHA:352403
disease_name: Spectrin-associated autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 14
Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome
SCAR14
SPARCA
SPARCA1
Spectrin-associated autosomal recessive cerebellar ataxia type 1
gene_symbol: SNX14
disease_id: OMIM:616354
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
gene_symbol: C19orf12
disease_id: OMIM:614298
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
gene_symbol: CARS1
disease_id: OMIM:618891
disease_name: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
gene_symbol: PIGG
disease_id: ORPHA:488635
disease_name: Early-onset epilepsy-intellectual disability-brain anomalies syndrome
Congenital disorder of glycosylation due to PIGG deficiency
PIGG-CDG
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
gene_symbol: RNASEH1
disease_id: OMIM:616479
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2
gene_symbol: ATP8A2
disease_id: OMIM:615268
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
gene_symbol: APTX
disease_id: OMIM:208920
disease_name: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
gene_symbol: APTX
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: NARS2
disease_id: OMIM:616239
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
gene_symbol: TBCE
disease_id: OMIM:617207
disease_name: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
gene_symbol: TBCE
disease_id: ORPHA:496756
disease_name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
gene_symbol: SCARB2
disease_id: OMIM:254900
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE
gene_symbol: PMM2
disease_id: OMIM:212065
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
gene_symbol: ERCC6
disease_id: OMIM:214150
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 1
gene_symbol: EBF3
disease_id: OMIM:617330
disease_name: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
gene_symbol: CLCN7
disease_id: OMIM:618541
disease_name: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT
gene_symbol: GRM1
disease_id: OMIM:617691
disease_name: SPINOCEREBELLAR ATAXIA 44
gene_symbol: GRM1
disease_id: OMIM:614831
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13
gene_symbol: TRMT1
disease_id: OMIM:618302
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
gene_symbol: PIGT
disease_id: OMIM:615398
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
gene_symbol: PIGT
disease_id: ORPHA:369837
disease_name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
gene_symbol: CWF19L1
disease_id: OMIM:616127
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
gene_symbol: TTC19
disease_id: OMIM:615157
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: DHX9
disease_id: OMIM:620988
disease_name: OMIM:620988
gene_symbol: HK1
disease_id: OMIM:618547
disease_name: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES
gene_symbol: NUP214
disease_id: OMIM:618426
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9
gene_symbol: MDH2
disease_id: OMIM:617339
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51
gene_symbol: CKAP2L
disease_id: OMIM:272440
disease_name: FILIPPI SYNDROME
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: 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: KCNJ10
disease_id: ORPHA:199343
disease_name: EAST syndrome
Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome
SeSAME syndrome
Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome
gene_symbol: KCNJ10
disease_id: OMIM:612780
disease_name: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
gene_symbol: ATAD3A
disease_id: ORPHA:496790
disease_name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
Harel-Yoon syndrome
gene_symbol: ATAD3A
disease_id: OMIM:617183
disease_name: HAREL-YOON SYNDROME
gene_symbol: POLR1C
disease_id: OMIM:616494
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 11
gene_symbol: BCAS3
disease_id: OMIM:619641
disease_name: HENGEL-MAROOFIAN-SCHOLS SYNDROME
gene_symbol: GPAA1
disease_id: ORPHA:529665
disease_name: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
GPAA1-related biosynthesis defect
gene_symbol: GPAA1
disease_id: OMIM:617810
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15
gene_symbol: PRNP
disease_id: ORPHA:157941
disease_name: Huntington disease-like 1
Early-onset prion disease with prominent psychiatric features
HDL1
gene_symbol: PRNP
disease_id: OMIM:137440
disease_name: GERSTMANN-STRAUSSLER DISEASE
gene_symbol: FDXR
disease_id: ORPHA:543470
disease_name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
gene_symbol: MFF
disease_id: ORPHA:485421
disease_name: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome
Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome
gene_symbol: MFF
disease_id: OMIM:617086
disease_name: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
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: ABCB7
disease_id: ORPHA:2802
disease_name: X-linked sideroblastic anemia and spinocerebellar ataxia
Pagon-Bird-Detter syndrome
X-linked sideroblastic anemia with ataxia
XLSA-A
gene_symbol: ABCB7
disease_id: OMIM:301310
disease_name: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
gene_symbol: ATP13A2
disease_id: OMIM:617225
disease_name: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
gene_symbol: ATP13A2
disease_id: ORPHA:513436
disease_name: Autosomal recessive spastic paraplegia type 78
SPG78
gene_symbol: SCAF4
disease_id: OMIM:620511
disease_name: FLIEDNER-ZWEIER SYNDROME
gene_symbol: PITRM1
disease_id: OMIM:619405
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30
gene_symbol: BEAN1
disease_id: ORPHA:217012
disease_name: Spinocerebellar ataxia type 31
SCA31
gene_symbol: BEAN1
disease_id: OMIM:117210
disease_name: SPINOCEREBELLAR ATAXIA 31
gene_symbol: MFSD8
disease_id: OMIM:610951
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 7
gene_symbol: COG7
disease_id: ORPHA:79333
disease_name: COG7-CDG
CDG syndrome type IIe
CDG-IIe
CDG2E
Carbohydrate deficient glycoprotein syndrome type IIe
Congenital disorder of glycosylation type 2e
Congenital disorder of glycosylation type IIe
gene_symbol: COG7
disease_id: OMIM:608779
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe
gene_symbol: TWNK
disease_id: OMIM:271245
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)
gene_symbol: TWNK
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: PIGN
disease_id: OMIM:614080
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: PTRH2
disease_id: OMIM:616263
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
gene_symbol: PLCH1
disease_id: OMIM:619895
disease_name: HOLOPROSENCEPHALY 14
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: FCSK
disease_id: OMIM:618324
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2
gene_symbol: PNKP
disease_id: OMIM:616267
disease_name: ATAXIA-OCULOMOTOR APRAXIA 4
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: PNKP
disease_id: OMIM:613402
disease_name: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
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: MICOS13
disease_id: OMIM:618329
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37
gene_symbol: MRM2
disease_id: OMIM:618567
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 17
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: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV
gene_symbol: ALG3
disease_id: OMIM:601110
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
gene_symbol: ATCAY
disease_id: OMIM:601238
disease_name: CEREBELLAR ATAXIA, CAYMAN TYPE
gene_symbol: SLC25A46
disease_id: OMIM:619303
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1E
gene_symbol: SLC25A46
disease_id: OMIM:616505
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY
gene_symbol: PRUNE1
disease_id: OMIM:617481
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
gene_symbol: PRUNE1
disease_id: ORPHA:544469
disease_name: PRUNE1-related neurological syndrome
gene_symbol: PCNA
disease_id: ORPHA:438134
disease_name: PCNA-related progressive neurodegenerative photosensitivity syndrome
gene_symbol: PCNA
disease_id: OMIM:615919
disease_name: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
gene_symbol: LIG3
disease_id: OMIM:619780
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE)
gene_symbol: COQ4
disease_id: OMIM:616276
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 7
gene_symbol: COQ4
disease_id: OMIM:620666
disease_name: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
gene_symbol: NADK2
disease_id: ORPHA:431361
disease_name: Progressive encephalopathy with leukodystrophy due to DECR deficiency
2,4-dienoyl-CoA reductase deficiency
DECR deficiency with hyperlysinemia
gene_symbol: SPTAN1
disease_id: OMIM:620538
disease_name: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA
gene_symbol: SPTAN1
disease_id: OMIM:620540
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY
gene_symbol: SPTAN1
disease_id: OMIM:613477
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5
gene_symbol: POLG2
disease_id: OMIM:619425
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE)
gene_symbol: POLG2
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG2
disease_id: OMIM:610131
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4
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: 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: KCNA1
disease_id: ORPHA:37612
disease_name: Episodic ataxia type 1
Episodic ataxia with myokymia
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: SLC32A1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GNAO1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GNAO1
disease_id: OMIM:617493
disease_name: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
gene_symbol: TRIM8
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRIN1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRIN1
disease_id: OMIM:614254
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
gene_symbol: SLC25A22
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: CASK
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: GRM7
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRM7
disease_id: OMIM:618922
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
gene_symbol: ARX
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SCN2A
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: NEUROD2
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SLC25A4
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG
disease_id: OMIM:258450
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
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: RRM2B
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: SPART
disease_id: OMIM:275900
disease_name: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE
gene_symbol: DNM1L
disease_id: ORPHA:330050
disease_name: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
gene_symbol: DNM1L
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: HERC1
disease_id: OMIM:617011
disease_name: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
gene_symbol: UBA5
disease_id: OMIM:617132
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44
gene_symbol: UBA5
disease_id: OMIM:617133
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
gene_symbol: COG5
disease_id: ORPHA:263487
disease_name: COG5-CDG
CDG syndrome type IIi
CDG-IIi
CDG2I
Carbohydrate deficient glycoprotein syndrome type IIi
Congenital disorder of glycosylation type 2i
Congenital disorder of glycosylation type IIi
gene_symbol: COG5
disease_id: OMIM:613612
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi
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: CNTNAP1
disease_id: OMIM:618186
disease_name: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
gene_symbol: SYNE1
disease_id: ORPHA:88644
disease_name: Autosomal recessive ataxia, Beauce type
ARCA1
Autosomal recessive cerebellar ataxia type 1
SCAR8
gene_symbol: SYNE1
disease_id: OMIM:610743
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
gene_symbol: POLR3K
disease_id: OMIM:619310
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 21
gene_symbol: FTH1
disease_id: OMIM:620669
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9
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: WDR4
disease_id: OMIM:618347
disease_name: GALLOWAY-MOWAT SYNDROME 6
gene_symbol: NDUFS1
disease_id: OMIM:618226
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: ACTL6B
disease_id: OMIM:618468
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76
gene_symbol: SNF8
disease_id: OMIM:620784
disease_name: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY
gene_symbol: SNF8
disease_id: OMIM:620783
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115
gene_symbol: ACBD6
disease_id: OMIM:620785
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
gene_symbol: ITPR1
disease_id: ORPHA:208513
disease_name: Spinocerebellar ataxia type 29
Congenital nonprogressive spinocerebellar ataxia
SCA29
gene_symbol: ITPR1
disease_id: OMIM:206700
disease_name: GILLESPIE SYNDROME
gene_symbol: ITPR1
disease_id: ORPHA:98769
disease_name: Spinocerebellar ataxia type 15/16
SCA15/16
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: ITPR1
disease_id: OMIM:606658
disease_name: SPINOCEREBELLAR ATAXIA 15
gene_symbol: NODAL
disease_id: OMIM:270100
disease_name: HETEROTAXY, VISCERAL, 5, AUTOSOMAL
gene_symbol: SLC1A3
disease_id: ORPHA:209967
disease_name: Episodic ataxia type 6
gene_symbol: SLC1A3
disease_id: OMIM:612656
disease_name: EPISODIC ATAXIA, TYPE 6
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: SLC9A1
disease_id: OMIM:616291
disease_name: LICHTENSTEIN-KNORR SYNDROME
gene_symbol: VPS50
disease_id: OMIM:619685
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
gene_symbol: TK2
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: RNF170
disease_id: OMIM:619686
disease_name: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE
gene_symbol: TBC1D2B
disease_id: OMIM:619323
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
gene_symbol: NFASC
disease_id: OMIM:618356
disease_name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION
gene_symbol: SOD1
disease_id: OMIM:618598
disease_name: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE
gene_symbol: MGME1
disease_id: OMIM:615084
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 11
gene_symbol: MGME1
disease_id: ORPHA:352447
disease_name: Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Mitochondrial DNA maintenance syndrome due to MGME1 deficiency
PEO-myopathy-emaciation syndrome
mtDNA maintenance syndrome due to MGME1 deficiency
gene_symbol: ATXN10
disease_id: OMIM:603516
disease_name: SPINOCEREBELLAR ATAXIA 10
gene_symbol: ATXN10
disease_id: ORPHA:98761
disease_name: Spinocerebellar ataxia type 10
SCA10
gene_symbol: RELN
disease_id: ORPHA:89844
disease_name: Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A
gene_symbol: NDE1
disease_id: ORPHA:89844
disease_name: Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A
gene_symbol: LIPT1
disease_id: OMIM:616299
disease_name: LIPOYLTRANSFERASE 1 DEFICIENCY
gene_symbol: SQSTM1
disease_id: OMIM:617145
disease_name: NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET
gene_symbol: NDUFAF4
disease_id: OMIM:618237
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15
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: SNUPN
disease_id: OMIM:620793
disease_name: OMIM:620793
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: AP4M1
disease_id: OMIM:612936
disease_name: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE
gene_symbol: AP4M1
disease_id: ORPHA:280763
disease_name: Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
gene_symbol: L2HGDH
disease_id: OMIM:236792
disease_name: L-2-HYDROXYGLUTARIC ACIDURIA
gene_symbol: TBCD
disease_id: ORPHA:496641
disease_name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
gene_symbol: TBCD
disease_id: OMIM:617193
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
gene_symbol: OPA1
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: OPA1
disease_id: OMIM:210000
disease_name: BEHR SYNDROME
gene_symbol: RBL2
disease_id: OMIM:619690
disease_name: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
gene_symbol: GEMIN5
disease_id: OMIM:619333
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION
gene_symbol: MYH3
disease_id: OMIM:193700
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2A
gene_symbol: EXOSC5
disease_id: OMIM:619576
disease_name: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
gene_symbol: MTHFS
disease_id: OMIM:618367
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
gene_symbol: ZNF335
disease_id: OMIM:615095
disease_name: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: NDUFA9
disease_id: OMIM:618247
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
gene_symbol: FOXRED1
disease_id: OMIM:618241
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
gene_symbol: KCNC1
disease_id: OMIM:616187
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC 7
gene_symbol: AP3B2
disease_id: OMIM:617276
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48
gene_symbol: GDAP2
disease_id: OMIM:618369
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27
gene_symbol: AIMP2
disease_id: OMIM:618006
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 17
gene_symbol: NDUFA13
disease_id: OMIM:618249
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
gene_symbol: MED11
disease_id: OMIM:620327
disease_name: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
gene_symbol: CYFIP2
disease_id: OMIM:618008
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65
gene_symbol: CACNA1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: CACNA1A
disease_id: OMIM:183086
disease_name: SPINOCEREBELLAR ATAXIA 6
gene_symbol: CACNA1A
disease_id: OMIM:141500
disease_name: MIGRAINE, FAMILIAL HEMIPLEGIC, 1
gene_symbol: PRRT2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: SCN1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: GRIK2
disease_id: OMIM:619580
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
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: ZFHX3
disease_id: OMIM:600223
disease_name: SPINOCEREBELLAR ATAXIA 4
gene_symbol: FMR1
disease_id: OMIM:300623
disease_name: FRAGILE X TREMOR/ATAXIA SYNDROME
gene_symbol: KAT5
disease_id: OMIM:619103
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
gene_symbol: ARCN1
disease_id: OMIM:617164
disease_name: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY
gene_symbol: GJB1
disease_id: OMIM:302800
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
gene_symbol: ATP6V1A
disease_id: OMIM:618012
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93
gene_symbol: FGF12
disease_id: OMIM:617166
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47
gene_symbol: ERCC3
disease_id: OMIM:610651
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B
gene_symbol: TPP1
disease_id: OMIM:609270
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
gene_symbol: TPP1
disease_id: ORPHA:284324
disease_name: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 7
SCAR7
gene_symbol: FKTN
disease_id: ORPHA:370980
disease_name: Congenital muscular dystrophy without intellectual disability
CMD without intellectual disability
CMD-no MR
Congenital muscular dystrophy-dystroglycanopathy without intellectual disability
gene_symbol: CRPPA
disease_id: ORPHA:370980
disease_name: Congenital muscular dystrophy without intellectual disability
CMD without intellectual disability
CMD-no MR
Congenital muscular dystrophy-dystroglycanopathy without intellectual disability
gene_symbol: POMT1
disease_id: ORPHA:370980
disease_name: Congenital muscular dystrophy without intellectual disability
CMD without intellectual disability
CMD-no MR
Congenital muscular dystrophy-dystroglycanopathy without intellectual disability
gene_symbol: HEPACAM
disease_id: OMIM:613925
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
gene_symbol: TSPOAP1
disease_id: OMIM:620453
disease_name: DYSTONIA 22, JUVENILE-ONSET
gene_symbol: TEFM
disease_id: OMIM:620451
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58
gene_symbol: EEF2
disease_id: ORPHA:101112
disease_name: Spinocerebellar ataxia type 26
SCA26
gene_symbol: EEF2
disease_id: OMIM:609306
disease_name: SPINOCEREBELLAR ATAXIA 26
gene_symbol: COA7
disease_id: OMIM:618387
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3
gene_symbol: CUX2
disease_id: OMIM:618141
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67
gene_symbol: SLC13A3
disease_id: OMIM:618384
disease_name: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE
gene_symbol: PIGS
disease_id: OMIM:618143
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
gene_symbol: MRE11
disease_id: ORPHA:251347
disease_name: Ataxia-telangiectasia-like disorder
ATLD
gene_symbol: MRE11
disease_id: OMIM:604391
disease_name: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1
gene_symbol: SEPSECS
disease_id: OMIM:613811
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
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: ABCD1
disease_id: ORPHA:369942
disease_name: CADDS
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
gene_symbol: BCAP31
disease_id: ORPHA:369942
disease_name: CADDS
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
gene_symbol: BCAP31
disease_id: OMIM:300475
disease_name: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION
gene_symbol: BCAP31
disease_id: ORPHA:369939
disease_name: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
gene_symbol: GAD1
disease_id: OMIM:619124
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89
gene_symbol: TAF1
disease_id: OMIM:300966
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
gene_symbol: YIF1B
disease_id: OMIM:619125
disease_name: KAYA-BARAKAT-MASSON SYNDROME
gene_symbol: GFM2
disease_id: OMIM:618397
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39
gene_symbol: AGTPBP1
disease_id: OMIM:618276
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
gene_symbol: FA2H
disease_id: ORPHA:171629
disease_name: Autosomal recessive spastic paraplegia type 35
SPG35
gene_symbol: FA2H
disease_id: ORPHA:329308
disease_name: Fatty acid hydroxylase-associated neurodegeneration
FAHN
gene_symbol: FA2H
disease_id: OMIM:612319
disease_name: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
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: GNS
disease_id: OMIM:252940
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIID
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: SDHA
disease_id: OMIM:619259
disease_name: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY
gene_symbol: SLC9A6
disease_id: ORPHA:85278
disease_name: Christianson syndrome
X-linked Angelman-like syndrome
gene_symbol: SLC9A6
disease_id: OMIM:300243
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
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: STUB1
disease_id: OMIM:618093
disease_name: SPINOCEREBELLAR ATAXIA 48
gene_symbol: STUB1
disease_id: OMIM:615768
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
gene_symbol: ARG1
disease_id: OMIM:207800
disease_name: ARGININEMIA
gene_symbol: HSD17B4
disease_id: OMIM:261515
disease_name: D-BIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: HSD17B4
disease_id: OMIM:233400
disease_name: PERRAULT SYNDROME 1
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: SRD5A3
disease_id: ORPHA:324737
disease_name: SRD5A3-CDG
CDG syndrome type Iq
CDG-Iq
CDG1Q
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type Iq
gene_symbol: VPS41
disease_id: OMIM:619389
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29
gene_symbol: COQ5
disease_id: OMIM:619028
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 9
gene_symbol: BRAT1
disease_id: OMIM:618056
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
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: RNF13
disease_id: ORPHA:544503
disease_name: RNF13-related severe early-onset epileptic encephalopathy
RNF13-related severe EOEE
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: ORPHA:35069
disease_name: Infantile neuroaxonal dystrophy
INAD
INAD1
PLAN
Phospholipase A2-associated neurodegeneration
Seitelberger disease
gene_symbol: PLA2G6
disease_id: OMIM:256600
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
gene_symbol: DCLRE1B
disease_id: OMIM:620133
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8
gene_symbol: ANO10
disease_id: OMIM:613728
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
gene_symbol: ANO10
disease_id: ORPHA:284289
disease_name: Adult-onset autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 10
SCAR10
gene_symbol: ELOVL5
disease_id: ORPHA:423296
disease_name: Spinocerebellar ataxia type 38
SCA38
gene_symbol: CIZ1
disease_id: ORPHA:420492
disease_name: Adult-onset cervical dystonia, DYT23 type
DYT23
Dystonia 23
gene_symbol: SIL1
disease_id: OMIM:248800
disease_name: MARINESCO-SJOGREN SYNDROME
gene_symbol: NDUFA8
disease_id: OMIM:619272
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37
gene_symbol: ADSL
disease_id: OMIM:103050
disease_name: ADENYLOSUCCINASE DEFICIENCY
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: CYP27A1
disease_id: OMIM:213700
disease_name: CEREBROTENDINOUS XANTHOMATOSIS
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: SLC35B2
disease_id: OMIM:620269
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA
gene_symbol: GRN
disease_id: OMIM:614706
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 11
gene_symbol: FARS2
disease_id: OMIM:614946
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
gene_symbol: POGZ
disease_id: ORPHA:468678
disease_name: White-Sutton syndrome
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
gene_symbol: IBA57
disease_id: ORPHA:468661
disease_name: Autosomal recessive spastic paraplegia type 74
SPG74
gene_symbol: MED27
disease_id: OMIM:619286
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
gene_symbol: ATXN2
disease_id: OMIM:183090
disease_name: SPINOCEREBELLAR ATAXIA 2
gene_symbol: RTTN
disease_id: OMIM:614833
disease_name: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
gene_symbol: RTTN
disease_id: ORPHA:468631
disease_name: Microcephalic cortical malformations-short stature due to RTTN deficiency
gene_symbol: RNF216
disease_id: OMIM:212840
disease_name: GORDON HOLMES SYNDROME
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: KIF1A
disease_id: OMIM:610357
disease_name: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT
gene_symbol: KIF1A
disease_id: OMIM:614255
disease_name: NESCAV SYNDROME
gene_symbol: NPTX1
disease_id: OMIM:620158
disease_name: SPINOCEREBELLAR ATAXIA 50
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: 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: 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: IRF2BPL
disease_id: OMIM:618088
disease_name: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
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: PDYN
disease_id: OMIM:610245
disease_name: SPINOCEREBELLAR ATAXIA 23
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: CTSD
disease_id: OMIM:610127
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 10
gene_symbol: CAPN1
disease_id: OMIM:616907
disease_name: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: TTPA
disease_id: ORPHA:96
disease_name: Ataxia with vitamin E deficiency
AVED
Ataxia with isolated vitamin E deficiency
Familial isolated vitamin E deficiency
Friedreich-like ataxia
Isolated vitamin E deficiency
gene_symbol: TTPA
disease_id: OMIM:277460
disease_name: ATAXIA WITH VITAMIN 3 DEFICIENCY
gene_symbol: LNPK
disease_id: OMIM:618090
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
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: COX4I1
disease_id: OMIM:619060
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16
gene_symbol: PMPCA
disease_id: ORPHA:1170
disease_name: Autosomal recessive cerebelloparenchymal disorder type 3
Autosomal recessive spinocerebellar ataxia type 2
SCAR2
gene_symbol: TOP3A
disease_id: OMIM:618098
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5
gene_symbol: ABHD12
disease_id: OMIM:612674
disease_name: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT
gene_symbol: TDP1
disease_id: OMIM:607250
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1
gene_symbol: COG8
disease_id: ORPHA:95428
disease_name: COG8-CDG
CDG syndrome type IIh
CDG-IIh
CDG2H
Carbohydrate deficient glycoprotein syndrome type IIh
Congenital disorder of glycosylation type 2h
Congenital disorder of glycosylation type IIh
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: DAB1
disease_id: OMIM:615945
disease_name: SPINOCEREBELLAR ATAXIA 37
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
gene_symbol: TUBB4A
disease_id: OMIM:612438
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 6
gene_symbol: SERAC1
disease_id: OMIM:614739
disease_name: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
gene_symbol: FXN
disease_id: ORPHA:95
disease_name: Friedreich ataxia
FA
FRDA
gene_symbol: RUBCN
disease_id: OMIM:615705
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
gene_symbol: TBP
disease_id: OMIM:607136
disease_name: SPINOCEREBELLAR ATAXIA 17
gene_symbol: TBP
disease_id: ORPHA:98759
disease_name: Spinocerebellar ataxia type 17
HDL4
Huntington disease-like 4
SCA17
gene_symbol: ALDH5A1
disease_id: OMIM:271980
disease_name: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: FGF14
disease_id: OMIM:620174
disease_name: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET
gene_symbol: FGF14
disease_id: ORPHA:98764
disease_name: Spinocerebellar ataxia type 27A
SCA27A
gene_symbol: FGF14
disease_id: OMIM:193003
disease_name: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT
gene_symbol: IFRD1
disease_id: ORPHA:98771
disease_name: Spinocerebellar ataxia type 18
SCA18
gene_symbol: KCND3
disease_id: ORPHA:98772
disease_name: Spinocerebellar ataxia type 19/22
SCA19/22
gene_symbol: KCND3
disease_id: OMIM:607346
disease_name: SPINOCEREBELLAR ATAXIA 19
gene_symbol: CNP
disease_id: OMIM:619071
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 20
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: PEX2
disease_id: OMIM:614867
disease_name: PEROXISOME BIOGENESIS DISORDER 5B
gene_symbol: LYRM7
disease_id: OMIM:615838
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: KCNC3
disease_id: ORPHA:98768
disease_name: Spinocerebellar ataxia type 13
SCA13
gene_symbol: KCNC3
disease_id: OMIM:605259
disease_name: SPINOCEREBELLAR ATAXIA 13
gene_symbol: DOHH
disease_id: OMIM:620066
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT
gene_symbol: ATXN8
disease_id: ORPHA:98760
disease_name: Spinocerebellar ataxia type 8
SCA8
gene_symbol: ATXN8
disease_id: OMIM:608768
disease_name: SPINOCEREBELLAR ATAXIA 8
gene_symbol: ATXN8OS
disease_id: ORPHA:98760
disease_name: Spinocerebellar ataxia type 8
SCA8
gene_symbol: ATXN8OS
disease_id: OMIM:608768
disease_name: SPINOCEREBELLAR ATAXIA 8
gene_symbol: ATP2B3
disease_id: OMIM:302500
disease_name: SPINOCEREBELLAR ATAXIA, X-LINKED 1
gene_symbol: SYT14
disease_id: ORPHA:284271
disease_name: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Autosomal recessive spinocerebellar ataxia type 11
SCAR11
gene_symbol: SYT14
disease_id: OMIM:614229
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
gene_symbol: PEX10
disease_id: OMIM:614871
disease_name: PEROXISOME BIOGENESIS DISORDER 6B
gene_symbol: PEX16
disease_id: OMIM:614877
disease_name: PEROXISOME BIOGENESIS DISORDER 8B
gene_symbol: IFIH1
disease_id: OMIM:615846
disease_name: AICARDI-GOUTIERES SYNDROME 7
gene_symbol: TXN2
disease_id: OMIM:616811
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
gene_symbol: ATXN1
disease_id: ORPHA:98755
disease_name: Spinocerebellar ataxia type 1
SCA1
gene_symbol: MORC2
disease_id: OMIM:619090
disease_name: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
gene_symbol: MORC2
disease_id: ORPHA:466768
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
CMT2Z
gene_symbol: VPS53
disease_id: OMIM:615851
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E
gene_symbol: CPLX1
disease_id: ORPHA:352582
disease_name: Familial infantile myoclonic epilepsy
FIME
Familial infantile myoclonus epilepsy
gene_symbol: TBC1D24
disease_id: ORPHA:352582
disease_name: Familial infantile myoclonic epilepsy
FIME
Familial infantile myoclonus epilepsy
gene_symbol: CRAT
disease_id: OMIM:617917
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
gene_symbol: SLC39A8
disease_id: ORPHA:468699
disease_name: SLC39A8-CDG
CDG syndrome type IIn
CDG-IIn
CDG2N
Carbohydrate deficient glycoprotein syndrome type IIn
Congenital disorder of glycosylation type 2n
Congenital disorder of glycosylation type IIn
SLC39A8 deficiency
gene_symbol: SLC39A8
disease_id: OMIM:616721
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
gene_symbol: VWA3B
disease_id: OMIM:616948
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22
gene_symbol: REPS1
disease_id: OMIM:617916
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7
gene_symbol: LETM1
disease_id: OMIM:620089
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
gene_symbol: CTBP1
disease_id: OMIM:617915
disease_name: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
gene_symbol: ATXN7
disease_id: ORPHA:94147
disease_name: Spinocerebellar ataxia type 7
Ataxia with pigmentary retinopathy
Cerebellar syndrome-pigmentary maculopathy syndrome
SCA7
gene_symbol: ZIC2
disease_id: OMIM:609637
disease_name: HOLOPROSENCEPHALY 5
gene_symbol: COQ9
disease_id: OMIM:614654
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 5
gene_symbol: PACS1
disease_id: ORPHA:329224
disease_name: Schuurs-Hoeijmakers syndrome
PACS1-NDD
PACS1-neurodevelopmental disorder
PACS1-related syndrome
gene_symbol: DHX30
disease_id: OMIM:617804
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
gene_symbol: SH3TC2
disease_id: ORPHA:99949
disease_name: Charcot-Marie-Tooth disease type 4C
CMT4C
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: TMEM240
disease_id: OMIM:607454
disease_name: SPINOCEREBELLAR ATAXIA 21
gene_symbol: SETX
disease_id: OMIM:606002
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2
gene_symbol: TOR1A
disease_id: OMIM:128100
disease_name: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
gene_symbol: POLR3A
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: MARS2
disease_id: OMIM:611390
disease_name: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE
gene_symbol: MARS2
disease_id: OMIM:616430
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
gene_symbol: WDR81
disease_id: OMIM:610185
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2
gene_symbol: SCN8A
disease_id: OMIM:614306
disease_name: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
gene_symbol: ZIC1
disease_id: OMIM:616602
disease_name: CRANIOSYNOSTOSIS 6
gene_symbol: VPS13D
disease_id: OMIM:607317
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
gene_symbol: CDC42
disease_id: OMIM:616737
disease_name: TAKENOUCHI-KOSAKI SYNDROME
gene_symbol: CDC42
disease_id: ORPHA:487796
disease_name: Takenouchi-Kosaki syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
gene_symbol: AARS2
disease_id: OMIM:615889
disease_name: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
gene_symbol: ACO2
disease_id: OMIM:614559
disease_name: INFANTILE CEREBELLAR-RETINAL DEGENERATION
gene_symbol: EXOSC3
disease_id: OMIM:614678
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
gene_symbol: GRIA2
disease_id: OMIM:618917
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
gene_symbol: NDUFA1
disease_id: OMIM:301020
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: COQ2
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: FRRS1L
disease_id: OMIM:616981
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37
gene_symbol: BCORL1
disease_id: OMIM:301029
disease_name: SHUKLA-VERNON SYNDROME
gene_symbol: PMPCB
disease_id: OMIM:617954
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6
gene_symbol: WWOX
disease_id: OMIM:614322
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
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: PRKCG
disease_id: OMIM:605361
disease_name: SPINOCEREBELLAR ATAXIA 14
gene_symbol: POLA1
disease_id: OMIM:301030
disease_name: VAN ESCH-O'DRISCOLL SYNDROME
gene_symbol: FAR1
disease_id: ORPHA:438178
disease_name: Fatty acyl-CoA reductase 1 deficiency
FAR1 deficiency
PFCRD
Peroxisomal fatty acyl-CoA reductase 1 disorder
gene_symbol: COG6
disease_id: OMIM:614576
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
gene_symbol: EMC1
disease_id: OMIM:616875
disease_name: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
gene_symbol: TBC1D20
disease_id: OMIM:615663
disease_name: WARBURG MICRO SYNDROME 4
gene_symbol: RFC1
disease_id: OMIM:614575
disease_name: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
gene_symbol: OSGEP
disease_id: OMIM:617729
disease_name: GALLOWAY-MOWAT SYNDROME 3
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: LAGE3
disease_id: OMIM:301006
disease_name: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
gene_symbol: COL18A1
disease_id: OMIM:267750
disease_name: KNOBLOCH SYNDROME 1
gene_symbol: SRPK3
disease_id: OMIM:301134
disease_name: OMIM:301134
gene_symbol: TRAPPC6B
disease_id: OMIM:617862
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY
gene_symbol: TRPC3
disease_id: OMIM:616410
disease_name: SPINOCEREBELLAR ATAXIA 41
gene_symbol: ARMC9
disease_id: OMIM:617622
disease_name: JOUBERT SYNDROME 30
gene_symbol: GFAP
disease_id: ORPHA:363717
disease_name: Alexander disease type I
AxD type I
gene_symbol: CCDC88A
disease_id: OMIM:617507
disease_name: PEHO-LIKE SYNDROME
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: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: AP4B1
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: ACY1
disease_id: OMIM:609924
disease_name: AMINOACYLASE 1 DEFICIENCY
gene_symbol: DKC1
disease_id: OMIM:301108
disease_name: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1
gene_symbol: CACNA1G
disease_id: ORPHA:458803
disease_name: Spinocerebellar ataxia type 42
SCA42
gene_symbol: CACNA1G
disease_id: OMIM:616795
disease_name: SPINOCEREBELLAR ATAXIA 42
gene_symbol: SLC33A1
disease_id: OMIM:614482
disease_name: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
gene_symbol: CLN5
disease_id: OMIM:256731
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 5
gene_symbol: NDUFS4
disease_id: OMIM:252010
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: XRCC1
disease_id: OMIM:617633
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
gene_symbol: PIK3R5
disease_id: OMIM:615217
disease_name: ATAXIA-OCULOMOTOR APRAXIA 3
gene_symbol: KCNMA1
disease_id: OMIM:618729
disease_name: LIANG-WANG SYNDROME
gene_symbol: KCNMA1
disease_id: OMIM:617643
disease_name: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
gene_symbol: PNPT1
disease_id: OMIM:608703
disease_name: SPINOCEREBELLAR ATAXIA 25
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: EXOSC2
disease_id: OMIM:617763
disease_name: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
gene_symbol: CARS2
disease_id: OMIM:616672
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
gene_symbol: FAT2
disease_id: OMIM:617769
disease_name: SPINOCEREBELLAR ATAXIA 45
gene_symbol: PI4KA
disease_id: OMIM:619708
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2
gene_symbol: RNU12
disease_id: ORPHA:512260
disease_name: Congenital cerebellar ataxia due to RNU12 mutation
gene_symbol: CUL4B
disease_id: OMIM:300354
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
gene_symbol: ARF1
disease_id: OMIM:618185
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 8
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
gene_symbol: MME
disease_id: OMIM:617018
disease_name: SPINOCEREBELLAR ATAXIA 43
gene_symbol: MME
disease_id: ORPHA:497764
disease_name: Spinocerebellar ataxia type 43
SCA43
gene_symbol: COG3
disease_id: OMIM:620546
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb
gene_symbol: CACNA2D2
disease_id: OMIM:618501
disease_name: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY
gene_symbol: CNTNAP2
disease_id: ORPHA:163681
disease_name: CNTNAP2-related developmental and epileptic encephalopathy
CDFE syndrome
CDFES
CNTNAP2-related DEE
Cortical dysplasia-focal epilepsy syndrome
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: TUBB
disease_id: OMIM:156610
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
gene_symbol: QARS1
disease_id: OMIM:615760
disease_name: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
gene_symbol: BCL11A
disease_id: OMIM:617101
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
gene_symbol: DLG4
disease_id: OMIM:618793
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62
gene_symbol: LMX1B
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: STXBP1
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: GTPBP2
disease_id: OMIM:617988
disease_name: JABERI-ELAHI SYNDROME
gene_symbol: CHP1
disease_id: OMIM:618438
disease_name: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: COX20
disease_id: OMIM:619054
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: XRCC4
disease_id: OMIM:616541
disease_name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
gene_symbol: SCYL1
disease_id: ORPHA:466794
disease_name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Autosomal recessive spinocerebellar ataxia type 21
SCAR21
gene_symbol: SCYL1
disease_id: OMIM:616719
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: RORA
disease_id: OMIM:618060
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
gene_symbol: CLTC
disease_id: OMIM:617854
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56
gene_symbol: VPS4A
disease_id: OMIM:619273
disease_name: CIMDAG SYNDROME
gene_symbol: CCDC88C
disease_id: OMIM:616053
disease_name: SPINOCEREBELLAR ATAXIA 40
gene_symbol: CCDC88C
disease_id: ORPHA:423275
disease_name: Spinocerebellar ataxia type 40
SCA40
gene_symbol: LAMA2
disease_id: ORPHA:258
disease_name: Laminin subunit alpha 2-related congenital muscular dystrophy
CMD1A
Congenital muscular dystrophy due to laminin alpha2 deficiency
Congenital muscular dystrophy type 1A
MDC1A
Merosin-negative congenital muscular dystrophy
gene_symbol: PEX6
disease_id: ORPHA:95433
disease_name: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive spinocerebellar ataxia type 3
Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
SCABD
SCAR3
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: PLAA
disease_id: ORPHA:521426
disease_name: PLAA-associated neurodevelopmental disorder
PLAAND
gene_symbol: SC5D
disease_id: ORPHA:46059
disease_name: Lathosterolosis
Sterol C5-desaturase deficiency
gene_symbol: ZPR1
disease_id: OMIM:619321
disease_name: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
gene_symbol: BTD
disease_id: OMIM:253260
disease_name: BIOTINIDASE DEFICIENCY
gene_symbol: CAMLG
disease_id: OMIM:620201
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy