Phenotype: Action tremor (HP:0002345)
Associated genes and diseases:
gene_symbol: CACNA1A
disease_id: OMIM:183086
disease_name: SPINOCEREBELLAR ATAXIA 6
gene_symbol: CACNA1A
disease_id: ORPHA:98758
disease_name: Spinocerebellar ataxia type 6
SCA6
gene_symbol: TECR
disease_id: OMIM:614020
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14
gene_symbol: WDR81
disease_id: OMIM:610185
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2
gene_symbol: HMBS
disease_id: OMIM:620704
disease_name: ENCEPHALOPATHY, PORPHYRIA-RELATED
gene_symbol: ERCC8
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC6
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: CACNA1C
disease_id: OMIM:620029
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
gene_symbol: AMACR
disease_id: OMIM:614307
disease_name: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
gene_symbol: POU4F1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: POU4F1
disease_id: OMIM:619352
disease_name: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
gene_symbol: CAMTA1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: PRICKLE1
disease_id: ORPHA:308
disease_name: Progressive myoclonic epilepsy type 1
EPM1
Progressive myoclonus epilepsy type 1
ULD
Unverricht-Lundborg disease
gene_symbol: CSTB
disease_id: ORPHA:308
disease_name: Progressive myoclonic epilepsy type 1
EPM1
Progressive myoclonus epilepsy type 1
ULD
Unverricht-Lundborg disease
gene_symbol: ATCAY
disease_id: ORPHA:94122
disease_name: Cerebellar ataxia, Cayman type
Cayman ataxia
gene_symbol: ATCAY
disease_id: OMIM:601238
disease_name: CEREBELLAR ATAXIA, CAYMAN TYPE
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: SPTBN2
disease_id: OMIM:600224
disease_name: SPINOCEREBELLAR ATAXIA 5
gene_symbol: SPTBN2
disease_id: OMIM:615386
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
gene_symbol: GJC2
disease_id: OMIM:608804
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 2
gene_symbol: GJC2
disease_id: OMIM:613206
disease_name: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE
gene_symbol: LEMD2
disease_id: OMIM:619322
disease_name: MARBACH-RUSTAD PROGEROID 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: NFASC
disease_id: OMIM:618356
disease_name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION
gene_symbol: UFC1
disease_id: OMIM:618076
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
gene_symbol: RARS1
disease_id: ORPHA:438114
disease_name: RARS-related autosomal recessive hypomyelinating leukodystrophy
gene_symbol: RARS1
disease_id: OMIM:616140
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 9
gene_symbol: ATM
disease_id: OMIM:208900
disease_name: ATAXIA-TELANGIECTASIA
gene_symbol: SEMA6B
disease_id: OMIM:618876
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 11
gene_symbol: KCNN2
disease_id: OMIM:619725
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES
gene_symbol: PNPLA6
disease_id: OMIM:275400
disease_name: OLIVER-MCFARLANE SYNDROME
gene_symbol: PNPLA6
disease_id: OMIM:215470
disease_name: BOUCHER-NEUHAUSER SYNDROME
gene_symbol: TPR
disease_id: OMIM:620393
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79
gene_symbol: TGM6
disease_id: OMIM:613908
disease_name: SPINOCEREBELLAR ATAXIA 35
gene_symbol: TGM6
disease_id: ORPHA:276193
disease_name: Spinocerebellar ataxia type 35
SCA35
gene_symbol: ARSA
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: ARSA
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: PSAP
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: PSAP
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: PSAP
disease_id: OMIM:610539
disease_name: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
gene_symbol: EPRS1
disease_id: OMIM:617951
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 15
gene_symbol: VLDLR
disease_id: OMIM:224050
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1
gene_symbol: RNU12
disease_id: OMIM:620208
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33
gene_symbol: RNU12
disease_id: ORPHA:512260
disease_name: Congenital cerebellar ataxia due to RNU12 mutation
gene_symbol: SLC25A46
disease_id: OMIM:616505
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY
gene_symbol: NKX2-1
disease_id: ORPHA:209905
disease_name: Brain-lung-thyroid syndrome
Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
gene_symbol: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
gene_symbol: ABCB7
disease_id: OMIM:301310
disease_name: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
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: ITM2B
disease_id: OMIM:117300
disease_name: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2
gene_symbol: TMEM70
disease_id: OMIM:614052
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: TMEM106B
disease_id: OMIM:617964
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 16
gene_symbol: ABHD12
disease_id: OMIM:612674
disease_name: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT
gene_symbol: GJB1
disease_id: ORPHA:1175
disease_name: X-linked progressive cerebellar ataxia
gene_symbol: HYCC1
disease_id: OMIM:610532
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 5
gene_symbol: TPK1
disease_id: OMIM:614458
disease_name: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
gene_symbol: FXN
disease_id: ORPHA:95
disease_name: Friedreich ataxia
FA
FRDA
gene_symbol: TBP
disease_id: OMIM:607136
disease_name: SPINOCEREBELLAR ATAXIA 17
gene_symbol: NOP56
disease_id: ORPHA:276198
disease_name: Spinocerebellar ataxia type 36
Asidan
SCA36
gene_symbol: PMM2
disease_id: OMIM:212065
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
gene_symbol: KCNK4
disease_id: OMIM:618381
disease_name: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME
gene_symbol: SMG9
disease_id: OMIM:619995
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES
gene_symbol: CTDP1
disease_id: ORPHA:48431
disease_name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
CCFDN
gene_symbol: CWF19L1
disease_id: OMIM:616127
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
gene_symbol: CWF19L1
disease_id: ORPHA:453521
disease_name: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
SCAR17
Spinocerebellar ataxia autosomal recessive type 17
gene_symbol: MRE11
disease_id: ORPHA:251347
disease_name: Ataxia-telangiectasia-like disorder
ATLD
gene_symbol: OPHN1
disease_id: ORPHA:137831
disease_name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OPHN1 syndrome
Oligophrenin-1 syndrome
gene_symbol: TMCO1
disease_id: OMIM:213980
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
gene_symbol: QRICH1
disease_id: OMIM:617982
disease_name: VERVERI-BRADY SYNDROME
gene_symbol: PEX10
disease_id: OMIM:614871
disease_name: PEROXISOME BIOGENESIS DISORDER 6B
gene_symbol: LMAN2L
disease_id: OMIM:617863
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69
gene_symbol: HSD17B4
disease_id: OMIM:233400
disease_name: PERRAULT SYNDROME 1
gene_symbol: ELOVL4
disease_id: OMIM:133190
disease_name: SPINOCEREBELLAR ATAXIA 34
gene_symbol: FARS2
disease_id: ORPHA:466722
disease_name: Autosomal recessive spastic paraplegia type 77
SPG77
gene_symbol: ANO10
disease_id: ORPHA:284289
disease_name: Adult-onset autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 10
SCAR10
gene_symbol: ANO10
disease_id: OMIM:613728
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
gene_symbol: RFC1
disease_id: ORPHA:504476
disease_name: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
CABV syndrome
CANVAS
Cerebellar ataxia with bilateral vestibulopathy syndrome
gene_symbol: NONO
disease_id: ORPHA:466791
disease_name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
gene_symbol: GSS
disease_id: OMIM:266130
disease_name: GLUTATHIONE SYNTHETASE DEFICIENCY
gene_symbol: TMEM63A
disease_id: OMIM:618688
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
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: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: VWA3B
disease_id: OMIM:616948
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22
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: ADPRS
disease_id: OMIM:618170
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
gene_symbol: FBXO7
disease_id: ORPHA:171695
disease_name: Parkinsonian-pyramidal syndrome
Pallidopyramidal syndrome
gene_symbol: SNCA
disease_id: ORPHA:171695
disease_name: Parkinsonian-pyramidal syndrome
Pallidopyramidal syndrome
gene_symbol: PIK3CA
disease_id: OMIM:615108
disease_name: COWDEN SYNDROME 5
gene_symbol: AKT1
disease_id: OMIM:615109
disease_name: COWDEN SYNDROME 6
gene_symbol: SCP2
disease_id: OMIM:613724
disease_name: LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
gene_symbol: PI4KA
disease_id: OMIM:619708
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2
gene_symbol: RILPL1
disease_id: OMIM:619790
disease_name: OCULOPHARYNGODISTAL MYOPATHY 4
gene_symbol: GCH1
disease_id: OMIM:128230
disease_name: DYSTONIA, DOPA-RESPONSIVE
gene_symbol: GCH1
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
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: NIPA1
disease_id: ORPHA:100988
disease_name: Autosomal dominant spastic paraplegia type 6
SPG6
gene_symbol: NR4A2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: NR4A2
disease_id: OMIM:619911
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
gene_symbol: IMPDH2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: PIK3R5
disease_id: ORPHA:64753
disease_name: Spinocerebellar ataxia with axonal neuropathy type 2
AOA2
Ataxia-oculomotor apraxia type 2
SCAN 2
SCAR1
gene_symbol: SETX
disease_id: ORPHA:64753
disease_name: Spinocerebellar ataxia with axonal neuropathy type 2
AOA2
Ataxia-oculomotor apraxia type 2
SCAN 2
SCAR1
gene_symbol: PTRHD1
disease_id: OMIM:620747
disease_name: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES
gene_symbol: NOTCH2NLC
disease_id: OMIM:618866
disease_name: TREMOR, HEREDITARY ESSENTIAL, 6
gene_symbol: COQ4
disease_id: OMIM:620666
disease_name: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE
gene_symbol: COQ2
disease_id: ORPHA:227510
disease_name: Multiple system atrophy, cerebellar type
MSA, cerebellar type
MSA-c
Sporadic OPCA type 1
Sporadic olivopontocerebellar atrophy type 1
gene_symbol: COQ2
disease_id: ORPHA:98933
disease_name: Multiple system atrophy, parkinsonian type
MSA, parkinsonian type
MSA-p
gene_symbol: TSPOAP1
disease_id: ORPHA:101150
disease_name: Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
gene_symbol: TH
disease_id: ORPHA:101150
disease_name: Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
gene_symbol: DNAJC30
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND1
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND2
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND4
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: NDUFS2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO3
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO3
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-CYB
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CYB
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ATP6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ATP6
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND5
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND5
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND6
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND4L
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4L
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: PDGFB
disease_id: OMIM:615483
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
gene_symbol: TENM4
disease_id: OMIM:616736
disease_name: TREMOR, HEREDITARY ESSENTIAL, 5
gene_symbol: FGF14
disease_id: OMIM:193003
disease_name: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT
gene_symbol: FGF14
disease_id: OMIM:620174
disease_name: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET
gene_symbol: ATP13A2
disease_id: ORPHA:314632
disease_name: CLN12 disease
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
Juvenile parkinsonism-neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis type 12
gene_symbol: ATXN1
disease_id: ORPHA:98755
disease_name: Spinocerebellar ataxia type 1
SCA1
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: TPP1
disease_id: OMIM:609270
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
gene_symbol: PRKN
disease_id: OMIM:600116
disease_name: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
gene_symbol: PRKRA
disease_id: ORPHA:210571
disease_name: Dystonia 16
DYT16
Early-onset dystonia parkinsonism
gene_symbol: PRKRA
disease_id: OMIM:612067
disease_name: DYSTONIA 16
gene_symbol: GRIK2
disease_id: OMIM:611092
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
gene_symbol: UCHL1
disease_id: OMIM:615491
disease_name: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
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: MYBPC1
disease_id: OMIM:618524
disease_name: MYOPATHY, CONGENITAL, WITH TREMOR
gene_symbol: SPG11
disease_id: OMIM:616668
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
gene_symbol: KCND3
disease_id: OMIM:607346
disease_name: SPINOCEREBELLAR ATAXIA 19
gene_symbol: ALDH18A1
disease_id: ORPHA:447757
disease_name: Autosomal dominant spastic paraplegia type 9B
AD-SPG9B
gene_symbol: ALDH18A1
disease_id: ORPHA:447760
disease_name: Autosomal recessive spastic paraplegia type 9B
AR-SPG9B
gene_symbol: BSCL2
disease_id: OMIM:270685
disease_name: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT
gene_symbol: BSCL2
disease_id: ORPHA:100998
disease_name: Autosomal dominant spastic paraplegia type 17
SPG17
Silver syndrome
Spastic paraplegia-amyotrophy of hands and feet
gene_symbol: VAPB
disease_id: OMIM:608627
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 8
gene_symbol: NDRG1
disease_id: ORPHA:99950
disease_name: Charcot-Marie-Tooth disease type 4D
CMT4D
HMSN, Lom type
HMSN-Lom
Hereditary motor and sensory neuropathy, Lom type
gene_symbol: CYP7B1
disease_id: OMIM:270800
disease_name: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
gene_symbol: PARK7
disease_id: OMIM:606324
disease_name: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: REEP2
disease_id: ORPHA:401849
disease_name: Autosomal spastic paraplegia type 72
SPG72
gene_symbol: PRDX3
disease_id: OMIM:619862
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: PIGA
disease_id: OMIM:301072
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
gene_symbol: TMEM240
disease_id: OMIM:607454
disease_name: SPINOCEREBELLAR ATAXIA 21
gene_symbol: MFN2
disease_id: ORPHA:99947
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2A2
CMT2A2
gene_symbol: POLR3B
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: GALT
disease_id: ORPHA:79239
disease_name: Classic galactosemia
GALT deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1
gene_symbol: ITPR1
disease_id: OMIM:606658
disease_name: SPINOCEREBELLAR ATAXIA 15
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: JPH3
disease_id: OMIM:606438
disease_name: HUNTINGTON DISEASE-LIKE 2
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: CLCN2
disease_id: OMIM:615651
disease_name: LEUKOENCEPHALOPATHY WITH ATAXIA
gene_symbol: FUS
disease_id: OMIM:614782
disease_name: TREMOR, HEREDITARY ESSENTIAL, 4
gene_symbol: SLC30A10
disease_id: ORPHA:309854
disease_name: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
gene_symbol: WARS2
disease_id: OMIM:619738
disease_name: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET
gene_symbol: GGT1
disease_id: OMIM:231950
disease_name: GLUTATHIONURIA
gene_symbol: UROC1
disease_id: OMIM:276880
disease_name: UROCANASE DEFICIENCY
gene_symbol: UROC1
disease_id: ORPHA:210128
disease_name: Urocanic aciduria
Encephalopathy due to urocanase deficiency
gene_symbol: DNAJC19
disease_id: ORPHA:66634
disease_name: Dilated cardiomyopathy with ataxia
3-methylglutaconic aciduria type 5
DCMA syndrome
MGA5
gene_symbol: SCN9A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN2A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRA1
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1B
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: PCDH19
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRG2
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SLC19A3
disease_id: OMIM:607483
disease_name: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE)
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: PMP22
disease_id: OMIM:180800
disease_name: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
gene_symbol: MPZ
disease_id: OMIM:180800
disease_name: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
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: ATN1
disease_id: ORPHA:101
disease_name: Dentatorubral pallidoluysian atrophy
DRPLA
Dentatorubropallidoluysian atrophy
Naito-Oyanagi disease
gene_symbol: ATP2B3
disease_id: OMIM:302500
disease_name: SPINOCEREBELLAR ATAXIA, X-LINKED 1
gene_symbol: ATP2B3
disease_id: ORPHA:314978
disease_name: X-linked non progressive cerebellar ataxia
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: SLC9A1
disease_id: OMIM:616291
disease_name: LICHTENSTEIN-KNORR SYNDROME
gene_symbol: FMR1
disease_id: OMIM:300623
disease_name: FRAGILE X TREMOR/ATAXIA SYNDROME
gene_symbol: TK2
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: POLG
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: DRD3
disease_id: OMIM:190300
disease_name: TREMOR, HEREDITARY ESSENTIAL, 1
gene_symbol: ATXN2
disease_id: OMIM:183090
disease_name: SPINOCEREBELLAR ATAXIA 2
gene_symbol: COL6A3
disease_id: OMIM:616411
disease_name: DYSTONIA 27
gene_symbol: COL6A3
disease_id: ORPHA:464440
disease_name: Primary dystonia, DYT27 type
gene_symbol: YWHAG
disease_id: OMIM:617665
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56
gene_symbol: RTN2
disease_id: OMIM:620854
disease_name: OMIM:620854
gene_symbol: SCARB2
disease_id: OMIM:254900
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE
gene_symbol: NOL3
disease_id: OMIM:614937
disease_name: MYOCLONUS, FAMILIAL, 1
gene_symbol: NPTX1
disease_id: OMIM:620158
disease_name: SPINOCEREBELLAR ATAXIA 50
gene_symbol: LMNB1
disease_id: ORPHA:99027
disease_name: Adult-onset autosomal dominant leukodystrophy
ADLD
Adult-onset autosomal dominant demyelinating leukodystrophy
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid 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: 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: NKX6-2
disease_id: OMIM:617560
disease_name: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: ALS2
disease_id: OMIM:205100
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
gene_symbol: ALS2
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
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: SIGMAR1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SPTLC1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: HIBCH
disease_id: ORPHA:88639
disease_name: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
HIBCH deficiency
Methacrylic aciduria
Valine metabolic defect
gene_symbol: HIBCH
disease_id: OMIM:250620
disease_name: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY
gene_symbol: HSPD1
disease_id: OMIM:612233
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 4
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: EIF2AK2
disease_id: OMIM:618877
disease_name: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
gene_symbol: LAMA1
disease_id: ORPHA:370022
disease_name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Poretti-Boltshauser syndrome
gene_symbol: POLR1A
disease_id: OMIM:620675
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 27
gene_symbol: TUBB4A
disease_id: ORPHA:98805
disease_name: Primary dystonia, DYT4 type
DYT4
Hereditary whispering dysphonia
gene_symbol: PLA2G6
disease_id: OMIM:612953
disease_name: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
gene_symbol: CACNA1G
disease_id: ORPHA:458803
disease_name: Spinocerebellar ataxia type 42
SCA42
gene_symbol: CARS2
disease_id: ORPHA:477774
disease_name: Combined oxidative phosphorylation defect type 27
COXPD27
gene_symbol: ANO3
disease_id: ORPHA:420485
disease_name: Cranio-cervical dystonia with laryngeal and upper-limb involvement
DYT24
Dystonia 24
gene_symbol: THG1L
disease_id: OMIM:618800
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28
gene_symbol: FLVCR1
disease_id: ORPHA:88628
disease_name: Posterior column ataxia-retinitis pigmentosa syndrome
Autosomal recessive posterior column ataxia and retinitis pigmentosa
PCARP
gene_symbol: ACBD5
disease_id: OMIM:618863
disease_name: RETINAL DYSTROPHY WITH LEUKODYSTROPHY
gene_symbol: BRAT1
disease_id: OMIM:618056
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: ATXN10
disease_id: ORPHA:98761
disease_name: Spinocerebellar ataxia type 10
SCA10
gene_symbol: MAOA
disease_id: OMIM:300615
disease_name: BRUNNER SYNDROME
gene_symbol: AFG3L2
disease_id: ORPHA:101109
disease_name: Spinocerebellar ataxia type 28
SCA28
gene_symbol: XPNPEP3
disease_id: OMIM:613159
disease_name: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
gene_symbol: PPP1R15B
disease_id: OMIM:616817
disease_name: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2
gene_symbol: IFRD1
disease_id: ORPHA:98771
disease_name: Spinocerebellar ataxia type 18
SCA18
gene_symbol: MAG
disease_id: ORPHA:459056
disease_name: Autosomal recessive spastic paraplegia type 75
SPG75
gene_symbol: KIF1C
disease_id: ORPHA:397946
disease_name: Autosomal spastic paraplegia type 58
Autosomal spastic ataxia type 2
SPAX2
SPG58
gene_symbol: PLP1
disease_id: ORPHA:280210
disease_name: Pelizaeus-Merzbacher disease, connatal form
Connatal PMD
Pelizaeus-Merzbacher disease type II
Severe PMD
gene_symbol: PLP1
disease_id: ORPHA:280219
disease_name: Pelizaeus-Merzbacher disease, classic form
Classic PMD
gene_symbol: PITRM1
disease_id: OMIM:619405
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30
gene_symbol: KCNC3
disease_id: ORPHA:98768
disease_name: Spinocerebellar ataxia type 13
SCA13