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 Syndrome CAMOS Syndrome de Joubert avec atteinte oculo-rénale Syndrome d'hémidystonie-hémiatrophie Syndrome de Joubert avec dystrophie thoracique asphyxiante de Jeune Dystonie combinée Maladie de Huntington-like 3 Neurodégénérescence par déficit en pantothénate kinase, forme classique Epilepsie myoclonique progressive type 5 Ataxie spinocérébelleuse type 35 Dystonie généralisée isolée Epilepsie myoclonique progressive type 3 Ataxie spinocérébelleuse type 2 Démence fronto-temporale Ataxie spinocérébelleuse type 1 Ataxie spinocérébelleuse type 6 Ataxie spinocérébelleuse type 36 Ataxie spinocérébelleuse type 31 Ataxie spinocérébelleuse type 3 Ataxie spinocérébelleuse type 8 Neurodégénérescence par déficit en pantothénate kinase, forme atypique Ataxie spinocérébelleuse type 17 Atrophie multisystématisée type cérébelleux Syndrome de Marinesco-Sjögren Ataxie cérébelleuse type Caïman Syndrome d'ataxie mitochondriale récessive Ataxie spinocérébelleuse type 12 Syndrome d'ataxie spinocérébelleuse-neuropathie axonale type 1 Ataxie spinocérébelleuse type 10 Maladie de Huntington juvénile Ataxie spinocérébelleuse type 4 Ataxie spinocérébelleuse type 14 Ataxie spinocérébelleuse type 27 Ataxie spinocérébelleuse type 11 Ataxie spinocérébelleuse type 5 Ataxie spinocérébelleuse type 30 Ataxie spinocérébelleuse type 15/16 Dystonie-parkinsonisme liée à l'X Ataxie spinocérébelleuse type 13 Ataxie spinocérébelleuse type 18 Ataxie spinocérébelleuse type 21 Ataxie spinocérébelleuse type 19/22 Syndrome orofaciodigital type 6 Syndrome d'ataxie cérébelleuse autosomique dominante-surdité-narcolepsie Ataxie cérébelleuse congénitale autosomique récessive Ataxie cérébelleuse dégénérative et progressive autosomique récessive Dystonie rare Ataxie cérébelleuse autosomique récessive d'origine métabolique Ataxie cérébelleuse autosomique récessive due à une anomalie de réparation de l'ADN Epilepsie myoclonique juvénile Ataxie cérébelleuse autosomique récessive syndromique Syndrome de Christianson Syndrome d'ataxie cérébelleuse autosomique récessive-retard psychomoteur Ataxie cérébelleuse autosomique dominante type I Ataxie cérébelleuse autosomique dominante type IV Encéphalopathie épileptique-dyskinétique infantile Ataxie spinocérébelleuse type 7 Ataxie cérébelleuse autosomique dominante type III