SE-ATLAS

Hereditäre spastische Paraplegie, reine Form Ataxie, autosomal-rezessive, durch PEX10-Mangel Steroid-responsive Enzephalopathie mit assoziierter Autoimmun-Thyroiditis Spastic paraplegia type 7 Autosomal recessive spastic paraplegia type 54 Dysequilibrium syndrome Complex hereditary spastic paraplegia Spinocerebellar ataxia type 32 Pelizaeus-Merzbacher-like disease due to GJC2 mutation Distal hereditary motor neuropathy type 2 Proximal spinal muscular atrophy type 1 Corpus callosum agenesis-neuronopathy syndrome Spastic paraplegia type 2 Non-progressive cerebellar ataxia with intellectual disability Myoclonus-cerebellar ataxia-deafness syndrome CACH syndrome Joubert syndrome with oculorenal defect Pelizaeus-Merzbacher-like disease due to HSPD1 mutation Spinocerebellar ataxia type 35 Parkinson-dementia complex of Guam CAMOS syndrome Huntington disease-like 3 Hereditary spastic paraplegia X-linked complex spastic paraplegia Spinocerebellar ataxia type 36 Cataract-ataxia-deafness syndrome Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Canavan disease Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Classic pantothenate kinase-associated neurodegeneration X-linked cerebral adrenoleukodystrophy Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Spinocerebellar ataxia type 2 Multiple system atrophy, cerebellar type Spinocerebellar ataxia type 1 Adult-onset autosomal dominant leukodystrophy Atypical pantothenate kinase-associated neurodegeneration Autosomal dominant spastic paraplegia type 42 Autosomal recessive spastic paraplegia type 45 Adrenomyeloneuropathy Frontotemporal dementia Distal hereditary motor neuropathy type 5 Spinocerebellar ataxia type 6 Logopenic progressive aphasia Spinocerebellar ataxia type 3 MASA syndrome Spinocerebellar ataxia type 8 Leukoencephalopathy-dystonia-motor neuropathy syndrome Spinocerebellar ataxia type 31 Spinocerebellar ataxia type 12 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Cerebellar ataxia, Cayman type Ovarioleukodystrophy Marinesco-Sjögren syndrome Recessive mitochondrial ataxia syndrome Ravine syndrome Spinocerebellar ataxia with axonal neuropathy type 1 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 27 Distal spinal muscular atrophy type 3 Spinocerebellar ataxia type 14 Cree leukoencephalopathy Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome Lambert-Eaton myasthenic syndrome Spinocerebellar ataxia type 13 Pelizaeus-Merzbacher disease Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 18 Dermatoleukodystrophy Autosomal recessive spastic paraplegia type 44 Spinocerebellar ataxia type 30 Megalencephalic leukoencephalopathy with subcortical cysts Spinocerebellar ataxia type 15/16 Leukodystrophy Spinocerebellar ataxia type 21 X-linked spastic paraplegia type 34 Spinocerebellar ataxia type 19/22 Orofaciodigital syndrome type 6 Cystic leukoencephalopathy without megalencephaly Episodic ataxia type 3 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome Autosomal recessive congenital cerebellar ataxia Autosomal dominant spastic paraplegia type 37 Motor neuron disease Episodic ataxia type 4 Autosomal recessive cerebellar ataxia due to a DNA repair defect Acquired motor neuron disease X-linked distal spinal muscular atrophy type 3 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Genetic motor neuron disease Autosomal recessive metabolic cerebellar ataxia Autosomal recessive spastic paraplegia type 56 Christianson syndrome Autosomal recessive syndromic cerebellar ataxia Autosomal recessive degenerative and progressive cerebellar ataxia Richards-Rundle syndrome Spinal muscular atrophy with respiratory distress type 1 Autosomal recessive spastic paraplegia type 48 Autosomal dominant cerebellar ataxia type I Neurogenic scapuloperoneal syndrome, Kaeser type Autosomal dominant cerebellar ataxia type III Spinocerebellar ataxia type 7 Autosomal dominant proximal spinal muscular atrophy Autosomal dominant cerebellar ataxia type IV Spinocerebellar ataxia type 23 Autosomal spastic paraplegia type 18 Nasu-Hakola disease Congenital or early infantile CACH syndrome Neuroferritinopathy Autosomal recessive spastic paraplegia type 32 Spinocerebellar ataxia type 25 Spinocerebellar ataxia type 20 Neonatal adrenoleukodystrophy CADDS Spinocerebellar ataxia type 28 Late infantile CACH syndrome Spinocerebellar ataxia type 34 Machado-Joseph disease type 2 Autosomal recessive spastic paraplegia type 35 Spinocerebellar ataxia type 26 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Pantothenate kinase-associated neurodegeneration Poliomyelitis X-linked spinocerebellar ataxia type 4 Genetic dementia Machado-Joseph disease type 1 Autosomal recessive complex spastic paraplegia Huntington disease-like syndrome Aicardi-Goutières syndrome Autosomal dominant complex spastic paraplegia Huntington disease-like 2 Machado-Joseph disease type 3 Mutilating hereditary sensory neuropathy with spastic paraplegia Juvenile or adult CACH syndrome Neurometabolic disease X-linked spinocerebellar ataxia type 3 Hypomyelination-congenital cataract syndrome Autosomal dominant spastic paraplegia type 3 Progressive cavitating leukoencephalopathy Juvenile primary lateral sclerosis Autosomal recessive spastic paraplegia type 5A Autosomal dominant spastic paraplegia type 8 Distal hereditary motor neuropathy type 7 Infantile-onset ascending hereditary spastic paralysis Allan-Herndon-Dudley syndrome Episodic ataxia type 6 Autosomal dominant spastic paraplegia type 6 Autosomal dominant spastic paraplegia type 10 Hereditary episodic ataxia Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Episodic ataxia type 7 Benign hereditary chorea Autosomal recessive spastic paraplegia type 14 Joubert syndrome Autosomal dominant spastic paraplegia type 13 Episodic ataxia type 5 Autosomal dominant spastic paraplegia type 17 Pelizaeus-Merzbacher disease, classic form 4H leukodystrophy Spastic ataxia Metachromatic leukodystrophy, adult form X-linked spastic paraplegia type 16 Autosomal recessive spastic paraplegia type 15 Neuroacanthocytosis Choreoacanthocytosis Autosomal recessive spastic paraplegia type 20 Bulbospinal muscular atrophy Autosomal dominant spastic paraplegia type 19 Pontocerebellar hypoplasia type 1 Rare genetic movement disorder Autosomal recessive spastic paraplegia type 21 Bulbospinal muscular atrophy of adult Hereditary ataxia Autosomal recessive spastic paraplegia type 24 X-linked sideroblastic anemia and spinocerebellar ataxia Autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive spastic paraplegia type 26 Autosomal dominant spastic ataxia Generalized bulbospinal muscular atrophy X-linked cerebellar ataxia Ataxia-oculomotor apraxia type 1 Infantile Krabbe disease Autosomal recessive spastic paraplegia type 28 Pelizaeus-Merzbacher disease in female carriers Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Krabbe disease EAST syndrome Postpoliomyelitis syndrome 3-methylglutaconic aciduria type 3 Autosomal recessive spastic paraplegia type 27 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Autosomal recessive cerebelloparenchymal disorder type 3 Monomelic amyotrophy Autosomal spastic paraplegia type 30 Autosomal dominant spastic paraplegia type 29 Pelizaeus-Merzbacher disease, transitional form Autosomal recessive cerebellar ataxia Cerebellar ataxia-hypogonadism syndrome Behavioral variant of frontotemporal dementia Proximal spinal muscular atrophy type 2 Autosomal dominant spastic paraplegia type 31 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome X-linked progressive cerebellar ataxia Proximal spinal muscular atrophy type 4 Pure or complex hereditary spastic paraplegia Proximal spinal muscular atrophy type 3 Joubert syndrome with ocular defect Early-onset cerebellar ataxia with retained tendon reflexes Spastic paraplegia-Paget disease of bone syndrome Autosomal recessive lower motor neuron disease with childhood onset Ataxia-tapetoretinal degeneration syndrome Locked-in syndrome Spastic paraplegia-epilepsy-intellectual disability syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome X-linked pure spastic paraplegia Autosomal recessive spastic ataxia with leukoencephalopathy Infantile Refsum disease Autosomal recessive spastic paraplegia type 39 Spastic paraplegia-glaucoma-intellectual disability syndrome Primary lateral sclerosis Spastic ataxia with congenital miosis Adult Krabbe disease Null syndrome Cerebrotendinous xanthomatosis Paraneoplastic limbic encephalitis Spastic paraplegia-facial-cutaneous lesions syndrome Refsum disease Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome Joubert syndrome with renal defect X-linked intellectual disability-ataxia-apraxia syndrome Spastic paraplegia-nephritis-deafness syndrome Alexander disease type I Zellweger syndrome Spinocerebellar ataxia-dysmorphism syndrome Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Periventricular leukomalacia Autosomal recessive spastic paraplegia type 11 Classic paraneoplastic limbic encephalitis Friedreich ataxia Lethal ataxia with deafness and optic atrophy Semantic dementia Progressive non-fluent aphasia Odontoleukodystrophy Ataxia-deafness-intellectual disability syndrome Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Familial paroxysmal ataxia Inherited congenital spastic tetraplegia Autosomal dominant cerebellar ataxia Limbic encephalitis associated with antibodies to cell membrane antigens Ataxia-telangiectasia Superficial siderosis Spinocerebellar ataxia with axonal neuropathy type 2 Metachromatic leukodystrophy Autosomal dominant cerebellar ataxia type II Amyotrophic lateral sclerosis type 4 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy Autosomal dominant spastic paraplegia type 41 Autosomal dominant childhood-onset proximal spinal muscular atrophy Spinocerebellar ataxia type 29 Spectrin-associated autosomal recessive cerebellar ataxia Lower motor neuron syndrome with late-adult onset Young adult-onset distal hereditary motor neuropathy Alexander disease type II Macrocephaly-spastic paraplegia-dysmorphism syndrome Posterior column ataxia-retinitis pigmentosa syndrome McLeod neuroacanthocytosis syndrome Madras motor neuron disease Rare genetic neurological disorder Rare ataxia Mills syndrome Ataxia-telangiectasia-like disorder MT-ATP6-related mitochondrial spastic paraplegia Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Autosomal recessive distal hereditary motor neuropathy Autosomal recessive spastic paraplegia type 43 Niemann-Pick disease type C, juvenile neurologic onset Riboflavin transporter deficiency Joubert syndrome and related disorders Autosomal dominant distal hereditary motor neuropathy Autosomal dominant congenital benign spinal muscular atrophy Severe Canavan disease Autosomal recessive ataxia, Beauce type Rare neurodegenerative disease Spinal atrophy-ophthalmoplegia-pyramidal syndrome Rare disorder with dystonia and other neurologic or systemic manifestation Rare parkinsonian syndrome due to neurodegenerative disease Isolated dystonia Hemidystonia-hemiatrophy syndrome Rare dystonia Rare parkinsonian disorder Rapid-onset dystonia-parkinsonism Combined dystonia Metachromatic leukodystrophy, late infantile form X-linked adrenoleukodystrophy Proximal spinal muscular atrophy Limbic encephalitis with nCMAgs antibodies Dentatorubral pallidoluysian atrophy Unknown leukodystrophy Opsoclonus-myoclonus syndrome Infantile-onset spinocerebellar ataxia Spinal muscular atrophy associated with central nervous system anomaly Hypomyelination with atrophy of basal ganglia and cerebellum Leukoencephalopathy with bilateral anterior temporal lobe cysts Pontocerebellar hypoplasia type 5 Pontocerebellar hypoplasia type 6 Primary progressive aphasia Autosomal recessive cerebellar ataxia-movement disorder syndrome Pontozerebelläre Hypoplasie Typ 9 Leigh-Syndrom mit Leukodystrophie Thalamus-Kalzifikationen, symmetrische Peroxisomenbiogenesedefekt Huntington-Krankheit Joubert-Syndrom mit Jeune asphyxierender Thoraxdystrophie Frontotemporale Demenz mit Motoneuron-Krankheit Früh beginnende spastische Ataxie-myoklonische Epilepsie-Neuropathie-Syndrom Proximale spinale Muskelatrophie mit Beginn im Erwachsenenalter, autosomal-dominante DYNC1H1-assoziierte autosomal-dominante im Kindesalter beginnende proximale spinale Muskelatrophie Sporadische Ataxie unbekannter Ätiologie im Erwachsenenalter Ataxie, spinozerebelläre, Typ 4 Ataxie, spinozerebelläre, Typ 5 Hereditäre diffuse Leukoenzephalopathie mit axonalen Sphäroiden und pigmentierter Glia Pontozerebelläre Hypoplasie Typ 2 Kennedy-Krankheit Spastische Ataxie - Hornhautdystrophie Muskelatrophie-Ataxie-Retinitis pigmentosa-Diabetes mellitus-Syndrom Canavan-Krankheit, milde Amyotrophe Lateralsklerose, juvenile Bewegungsstörung, seltene Hereditäre spastische Paraplegie, autosomal-dominante reine Hereditäre spastische Paraplegie, autosomal-rezessive reine Spastische Paraplegie, autosomal-dominante, Typ 9 Spastische Paraplegie, autosomal-dominante, Typ 12 Niemann-Pick-Krankheit Typ C Spastische Paraplegie, autosomal-rezessive, Typ 25 Autosomal-rezessive spinozerebelläre Ataxie mit Beginn in der Kindheit, langsam fortschreitend Pontozerebelläre Hypoplasie Typ 7 Pelizaeus-Merzbacher-ähnliche Krankheit Ataxie, episodische, Typ 1 Spastische Paraplegie, reine oder komplexe, autosomal-dominante Muskelatrophie, bulbospinale, des Kindes Spastische Paraplegie-Optikusatrophie-Neuropathie-Syndrom Pontozerebelläre Hypoplasie Typ 3 Leukodystrophie, metachromatische, juvenile Form Leukoenzephalopathie mit milder zerebellärer Ataxie und Ödem der weißen Substanz Alexander-Krankheit Limbische Enzephalitis mit LGI1-Antikörpern Fragiles-X assoziiertes Tremor/Ataxie-Syndrom Ataxie mit Vitamin E-Mangel Ataxie, spastische, autosomal-rezessive, Typ Charlevoix-Saguenay Spinozerebelläre Degeneration-Hornhautdystrophie-Syndrom Spinale Muskelatrophie, infantile, X-chromosomale NMDA-Rezeptor-Enzephalitis Pontozerebelläre Hypoplasie Typ 4 Ataxie, spinozerebelläre, Typ 37 Intelligenzminderung, schwere, mit progressiver spastischer Paraplegie Neurodegenerative Krankheit, genetisch bedingte Ataxie, autosomal-rezessive, durch Ubiquinon-Mangel Neuropathie, distale hereditäre motorische, Typ 1 Neuropathie, distale hereditäre motorische, Typ Jerash Autosomal-rezessive spastische Ataxie-Optikusatrophie-Dysarthrie-Syndrom Spastische Ataxie, autosomal-dominante, Typ 1 Joubert-Syndrom mit hepatischem Defekt Nicht-hereditäre degenerative Ataxie Ataxie, spinozerebelläre, Typ 17 Ataxie, erworbene Paraneoplastische Neurologische Syndrome Spastische Paraplegie, autosomal-dominante, Typ 38 Ataxie, zerebelläre, nicht-progressive, X-chromosomale Krabbe-Syndrom, spät-infantiles oder juveniles Spastische Paraplegie, autosomal-dominante, Typ 4 O'Sullivan-McLeod-Syndrom Autosomal-rezessive zerebelläre Ataxie mit Beginn im Erwachsenenalter Spastische Paraplegie, autosomal-rezessive, Typ 23 Pelizaeus-Merzbacher-Krankheit, konnatale Form Spastische Paraplegie, autosomal-rezessive, Typ 53 Spastische Paraplegie-Neuropathie-Poikilodermie-Syndrom Spastische Paraplegie-vorzeitige Pubertät-Syndrom Amyotrophe Lateralsklerose Retinopathie, karzinomassoziierte Spastische Ataxie, autosomal-rezessive Spastische Paraplegie, reine oder komplexe, X-chromosomale Spastische Paraplegie, reine oder komplexe, autosomal-rezessive Pontozerebelläre Hypoplasie Typ 10 Spastische Paraplegie, autosomal-dominante, Typ 36 Spastische Paraplegie, autosomal-rezessive, Typ 55 Spastische Paraplegie, autosomal-rezessive, Typ 46 Hypomyelinisierung mit Hirnstamm- und Rückenmarkbeteiligung und Beinspastik Pontozerebelläre Hypoplasie Typ 14 Pontozerebelläre Hypoplasie Typ 13 Pontozerebelläre Hypoplasie Typ 11 Pontozerebelläre Hypoplasie Typ 12 Pontozerebelläre Hypoplasie Typ 8