SE-ATLAS

Neuroferritinopathy Infantile dystonia-parkinsonism Rare genetic tremor disorder Machado-Joseph disease type 1 Spinocerebellar ataxia type 28 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Spinocerebellar ataxia type 23 Hereditary geniospasm Spinocerebellar ataxia type 25 Spinocerebellar ataxia type 20 Spinocerebellar ataxia type 34 X-linked spinocerebellar ataxia type 4 Dystonia-aphonia syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Pantothenate kinase-associated neurodegeneration Spinocerebellar ataxia type 26 Benign paroxysmal torticollis of infancy Multiple system atrophy, parkinsonian type Rapid-onset dystonia-parkinsonism Huntington disease-like 2 Machado-Joseph disease type 2 Progressive supranuclear palsy-corticobasal syndrome X-linked spinocerebellar ataxia type 3 Adult-onset autosomal recessive cerebellar ataxia X-linked non progressive cerebellar ataxia Woodhouse-Sakati syndrome Huntington disease-like syndrome Machado-Joseph disease type 3 Primary dystonia, DYT4 type Primary orthostatic tremor Primary dystonia, DYT13 type Progressive myoclonic epilepsy type 6 Primary dystonia, DYT6 type Paroxysmal kinesigenic dyskinesia Dravet syndrome Autosomal dominant dopa-responsive dystonia Paroxysmal exertion-induced dyskinesia Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Paroxysmal non-kinesigenic dyskinesia Benign hereditary chorea Neuroacanthocytosis Joubert syndrome PANDAS Autosomal recessive cerebellar ataxia with late-onset spasticity Infantile convulsions and choreoathetosis Paroxysmal dyskinesia Choreoacanthocytosis Benign adult familial myoclonic epilepsy Myoclonus-dystonia syndrome Ataxia-telangiectasia variant X-linked sideroblastic anemia and spinocerebellar ataxia Brain dopamine-serotonin vesicular transport disease Sensorineural hearing loss-early graying-essential tremor syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome Tremor-nystagmus-duodenal ulcer syndrome Ataxia-oculomotor apraxia type 1 Autosomal dominant focal dystonia, DYT25 type 3-methylglutaconic aciduria type 3 Autosomal recessive cerebelloparenchymal disorder type 3 Primary dystonia, DYT17 type Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Rare disorder with dystonia and other neurologic or systemic manifestation Autosomal recessive cerebellar ataxia Dopa-responsive dystonia due to sepiapterin reductase deficiency X-linked cerebellar ataxia Cerebellar ataxia-ectodermal dysplasia syndrome X-linked progressive cerebellar ataxia Joubert syndrome with ocular defect Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Adult-onset dystonia-parkinsonism Autosomal recessive dopa-responsive dystonia Early-onset cerebellar ataxia with retained tendon reflexes Wilson disease Rare genetic dystonia Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Joubert syndrome with renal defect Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Paroxysmal dystonia Combined cervical dystonia Joubert syndrome with hepatic defect Primary dystonia, DYT2 type Autosomal recessive ataxia due to ubiquinone deficiency Focal, segmental or multifocal dystonia X-linked intellectual disability-ataxia-apraxia syndrome Huntington disease-like syndrome due to C9ORF72 expansions Infantile-onset spinocerebellar ataxia Friedreich ataxia Autosomal recessive cerebellar ataxia-movement disorder syndrome Lethal ataxia with deafness and optic atrophy Ataxia with vitamin E deficiency Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Spinocerebellar ataxia type 37 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Ataxia-deafness-intellectual disability syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal dominant cerebellar ataxia Autosomal dominant cerebellar ataxia type II Spectrin-associated autosomal recessive cerebellar ataxia Fragile X-associated tremor/ataxia syndrome Ataxia-telangiectasia Rare tremor disorder Dentatorubral pallidoluysian atrophy Multiple system atrophy Rare choreic movement disorder Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia type 29 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Posterior column ataxia-retinitis pigmentosa syndrome McLeod neuroacanthocytosis syndrome Ataxia-telangiectasia-like disorder Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome Neurodegenerative disease with chorea Joubert syndrome and related disorders Dystonia 16 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Dopa-responsive dystonia Sydenham chorea Early-onset generalized limb-onset dystonia Oromandibular dystonia Postinfectious autoimmune disease with chorea Autosomal recessive ataxia due to PEX10 deficiency Non-progressive cerebellar ataxia with intellectual disability Isolated dystonia Autosomal recessive ataxia, Beauce type Huntington disease Blepharospasm-oromandibular dystonia syndrome Persistent combined dystonia Dysequilibrium syndrome Primary dystonia, DYT21 type Mohr-Tranebjaerg syndrome Spinocerebellar ataxia type 32 Brain-lung-thyroid syndrome Huntington disease-like 1 Developmental malformations-deafness-dystonia syndrome CAMOS syndrome Joubert syndrome with oculorenal defect Hemidystonia-hemiatrophy syndrome Joubert syndrome with Jeune asphyxiating thoracic dystrophy Combined dystonia Huntington disease-like 3 Classic pantothenate kinase-associated neurodegeneration Progressive myoclonic epilepsy type 5 Spinocerebellar ataxia type 35 Generalized isolated dystonia Progressive myoclonic epilepsy type 3 Spinocerebellar ataxia type 2 Frontotemporal dementia Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 36 Spinocerebellar ataxia type 31 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 8 Atypical pantothenate kinase-associated neurodegeneration Spinocerebellar ataxia type 17 Multiple system atrophy, cerebellar type Marinesco-Sjögren syndrome Cerebellar ataxia, Cayman type Recessive mitochondrial ataxia syndrome Spinocerebellar ataxia type 12 Spinocerebellar ataxia with axonal neuropathy type 1 Ataxie, spinozerebelläre, Typ 10 Juvenile Huntington-Krankheit Ataxie, spinozerebelläre, Typ 4 Ataxie, spinozerebelläre, Typ 14 Ataxie, spinozerebelläre, Typ 27 Ataxie, spinozerebelläre, Typ 11 Ataxie, spinozerebelläre, Typ 5 Ataxie, spinozerebelläre, Typ 30 Ataxie, spinozerebelläre, Typ 15/16 Dystonie-Parkinson-Syndrom, X-chromosomales Ataxie, spinozerebelläre, Typ 13 Ataxie, spinozerebelläre, Typ 18 Ataxie, spinozerebelläre, Typ 21 Ataxie, spinozerebelläre, Typ 19/22 Oro-fazio-digitales Syndrom Typ 6 Syndrom der autosomal-dominanten zerebellären Ataxie mit Schwerhörigkeit und Narkolepsie Ataxie, zerebelläre, autosomal-rezessive, kongenitale Ataxie, zerebelläre, autosomal-rezessive, degenerative und progressive Dystonie Ataxie, zerebelläre, autosomal-rezessive, metabolische Zerebelläre Ataxie, autosomal-rezessive, durch DNA-Reparaturdefekt Myoklonusepilepsie, juvenile Ataxie, zerebelläre, autosomal-rezessive, syndromale Christianson-Syndrom Autosomal-rezessive zerebelläre Ataxie-psychomotorische Retardierung-Syndrom Ataxie, zerebelläre, autosomal-dominante, Typ I Ataxie, zerebelläre, autosomal-dominante, Typ IV Enzephalopathie, epileptisch-dyskinetische infantile Ataxie, spinozerebelläre, Typ 7 Ataxie, zerebelläre, autosomal-dominante, Typ III