SE-ATLAS

Pure hereditary spastic paraplegia O'Sullivan-McLeod syndrome Autosomal recessive ataxia due to PEX10 deficiency Distal hereditary motor neuropathy type 1 Steroid-responsive encephalopathy associated with autoimmune thyroiditis Autosomal recessive spastic paraplegia type 54 Joubert syndrome with Jeune asphyxiating thoracic dystrophy Spastic paraplegia type 7 Dysequilibrium syndrome Spinocerebellar ataxia type 32 Complex hereditary spastic paraplegia Pelizaeus-Merzbacher-like disease due to GJC2 mutation Mild Canavan disease Distal hereditary motor neuropathy type 2 Proximal spinal muscular atrophy type 1 Corpus callosum agenesis-neuronopathy syndrome Spastic paraplegia type 2 Autosomal recessive spastic paraplegia type 55 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 Juvenile amyotrophic lateral sclerosis Hereditary spastic paraplegia Spinocerebellar ataxia type 36 X-linked complex spastic paraplegia Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Cataract-ataxia-deafness syndrome Canavan disease Classic pantothenate kinase-associated neurodegeneration Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome X-linked cerebral adrenoleukodystrophy Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Spinocerebellar ataxia type 2 Atypical pantothenate kinase-associated neurodegeneration Multiple system atrophy, cerebellar type Autosomal dominant spastic paraplegia type 42 Autosomal recessive spastic paraplegia type 45 Spinocerebellar ataxia type 1 Adult-onset autosomal dominant leukodystrophy Frontotemporal dementia Adrenomyeloneuropathy Spinocerebellar ataxia type 6 Distal hereditary motor neuropathy type 5 Logopenic progressive aphasia Spinocerebellar ataxia type 3 MASA syndrome Spinocerebellar ataxia type 8 Autosomal recessive spastic paraplegia type 46 Spinocerebellar ataxia type 31 Leukoencephalopathy-dystonia-motor neuropathy syndrome Spinocerebellar ataxia type 17 Cerebellar ataxia, Cayman type Spinocerebellar ataxia type 12 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Marinesco-Sjögren syndrome Ovarioleukodystrophy 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 Spinocerebellar ataxia type 5 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome Spinocerebellar ataxia type 4 Spastic paraplegia-optic atrophy-neuropathy syndrome Lambert-Eaton myasthenic syndrome Spinocerebellar ataxia type 13 Pelizaeus-Merzbacher disease Spinocerebellar ataxia type 11 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Distal hereditary motor neuropathy, Jerash type Spinocerebellar ataxia type 18 Dermatoleukodystrophy Autosomal recessive spastic paraplegia type 44 Leukodystrophy Spinocerebellar ataxia type 30 Spinocerebellar ataxia type 15/16 Megalencephalic leukoencephalopathy with subcortical cysts Spinocerebellar ataxia type 21 X-linked spastic paraplegia type 34 Spinocerebellar ataxia type 19/22 Orofaciodigital syndrome type 6 Episodic ataxia type 3 Cystic leukoencephalopathy without megalencephaly 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 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome X-linked distal spinal muscular atrophy type 3 Autosomal recessive metabolic cerebellar ataxia Autosomal recessive spastic paraplegia type 56 Genetic motor neuron disease Autosomal recessive syndromic cerebellar ataxia Christianson syndrome Autosomal recessive degenerative and progressive cerebellar ataxia Cancer-associated retinopathy Richards-Rundle syndrome Spinal muscular atrophy with respiratory distress type 1 Autosomal recessive spastic paraplegia type 48 Autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type III Neurogenic scapuloperoneal syndrome, Kaeser type Spinocerebellar ataxia type 7 Autosomal dominant proximal spinal muscular atrophy Autosomal dominant spastic paraplegia type 38 Autosomal dominant cerebellar ataxia type IV Spinocerebellar degeneration-corneal dystrophy syndrome Spinocerebellar ataxia type 23 Autosomal spastic paraplegia type 18 Nasu-Hakola disease X-linked adrenoleukodystrophy Congenital or early infantile CACH syndrome Neuroferritinopathy Spinocerebellar ataxia type 25 Spinocerebellar ataxia type 20 Autosomal recessive spastic paraplegia type 32 CADDS Neonatal adrenoleukodystrophy Spinocerebellar ataxia type 28 Spinocerebellar ataxia type 34 Late infantile CACH syndrome Autosomal dominant spastic ataxia type 1 Machado-Joseph disease type 2 Autosomal recessive spastic paraplegia type 35 Spinocerebellar ataxia type 26 Hypomyelination with atrophy of basal ganglia and cerebellum Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Pantothenate kinase-associated neurodegeneration Poliomyelitis X-linked spinocerebellar ataxia type 4 Autosomal recessive spastic paraplegia type 53 Genetic dementia Machado-Joseph disease type 1 Autosomal dominant pure spastic paraplegia Leukoencephalopathy with bilateral anterior temporal lobe cysts Autosomal recessive complex spastic paraplegia Leigh syndrome with leukodystrophy Huntington disease-like syndrome Autosomal dominant complex spastic paraplegia Huntington disease-like 2 Genetic neurodegenerative disease Aicardi-Goutières syndrome Machado-Joseph disease type 3 Mutilating hereditary sensory neuropathy with spastic paraplegia Leukoencephalopathy with mild cerebellar ataxia and white matter edema Juvenile or adult CACH syndrome Metachromatic leukodystrophy, late infantile form Neurometabolic disease Autosomal recessive pure spastic paraplegia X-linked spinocerebellar ataxia type 3 Adult-onset autosomal recessive cerebellar ataxia Hypomyelination-congenital cataract syndrome Infantile-onset X-linked spinal muscular atrophy Autosomal dominant spastic paraplegia type 4 Autosomal dominant spastic paraplegia type 3 X-linked non progressive cerebellar ataxia Progressive cavitating leukoencephalopathy Juvenile primary lateral sclerosis Autosomal recessive spastic paraplegia type 5A Autosomal dominant spastic paraplegia type 8 Alexander disease Pelizaeus-Merzbacher disease, connatal form 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 Metachromatic leukodystrophy, juvenile form Autosomal dominant spastic paraplegia type 10 Hypomyelination with brain stem and spinal cord involvement and leg spasticity Autosomal dominant spastic paraplegia type 9 Autosomal dominant spastic paraplegia type 12 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Hereditary episodic ataxia Autosomal recessive spastic paraplegia type 14 Episodic ataxia type 7 Benign hereditary chorea Joubert syndrome Autosomal dominant spastic paraplegia type 13 Episodic ataxia type 5 Pelizaeus-Merzbacher disease, classic form Autosomal dominant spastic paraplegia type 17 Spastic ataxia 4H leukodystrophy X-linked spastic paraplegia type 16 Autosomal recessive spastic paraplegia type 15 Metachromatic leukodystrophy, adult form Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Neuroacanthocytosis Pontocerebellar hypoplasia type 2 Choreoacanthocytosis Autosomal recessive spastic paraplegia type 20 Bulbospinal muscular atrophy Proximal spinal muscular atrophy Autosomal dominant spastic paraplegia type 19 Pontocerebellar hypoplasia type 1 Kennedy disease Rare genetic movement disorder Bulbospinal muscular atrophy of adult Autosomal recessive spastic paraplegia type 21 Hereditary ataxia Bulbospinal muscular atrophy of childhood Severe intellectual disability and progressive spastic paraplegia Autosomal recessive spastic paraplegia type 24 X-linked sideroblastic anemia and spinocerebellar ataxia Autosomal recessive spastic paraplegia type 26 Autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive spastic paraplegia type 23 Autosomal dominant spastic ataxia Generalized bulbospinal muscular atrophy X-linked cerebellar ataxia Autosomal recessive spastic paraplegia type 25 Ataxia-oculomotor apraxia type 1 Autosomal recessive spastic paraplegia type 28 Pelizaeus-Merzbacher disease in female carriers Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Infantile Krabbe disease Postpoliomyelitis syndrome Krabbe disease EAST syndrome Unknown leukodystrophy Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease 3-methylglutaconic aciduria type 3 Autosomal recessive spastic paraplegia type 27 Autosomal recessive cerebelloparenchymal disorder type 3 Monomelic amyotrophy Autosomal spastic paraplegia type 30 Autosomal dominant spastic paraplegia type 29 Pelizaeus-Merzbacher disease, transitional form Late-infantile/juvenile Krabbe disease Autosomal recessive cerebellar ataxia Behavioral variant of frontotemporal dementia Proximal spinal muscular atrophy type 2 Cerebellar ataxia-hypogonadism syndrome Autosomal dominant spastic paraplegia type 31 Peroxisome biogenesis disorder Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Pure or complex hereditary spastic paraplegia X-linked progressive cerebellar ataxia Proximal spinal muscular atrophy type 4 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 Symmetrical thalamic calcifications 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 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Autosomal recessive spastic ataxia with leukoencephalopathy Autosomal recessive spastic ataxia Infantile Refsum disease Spastic paraplegia-glaucoma-intellectual disability syndrome Primary lateral sclerosis Joubert syndrome with hepatic defect Autosomal recessive spastic paraplegia type 39 Null syndrome Cerebrotendinous xanthomatosis Adult Krabbe disease Frontotemporal dementia with motor neuron disease Spastic ataxia with congenital miosis Spastic paraplegia-facial-cutaneous lesions syndrome Refsum disease Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Paraneoplastic limbic encephalitis Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome Joubert syndrome with renal defect Opsoclonus-myoclonus syndrome X-linked intellectual disability-ataxia-apraxia syndrome Spastic paraplegia-nephritis-deafness syndrome Alexander disease type I Spastic paraplegia-neuropathy-poikiloderma syndrome Zellweger syndrome Spinocerebellar ataxia-dysmorphism syndrome Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Autosomal recessive spastic paraplegia type 11 Periventricular leukomalacia Pure or complex autosomal recessive spastic paraplegia Classic paraneoplastic limbic encephalitis Infantile-onset spinocerebellar ataxia Friedreich ataxia Autosomal recessive ataxia due to ubiquinone deficiency Primary progressive aphasia Semantic dementia Progressive non-fluent aphasia Sporadic adult-onset ataxia of unknown etiology Lethal ataxia with deafness and optic atrophy Ataxia with vitamin E deficiency Odontoleukodystrophy Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Ataxia-deafness-intellectual disability syndrome Familial paroxysmal ataxia Inherited congenital spastic tetraplegia Autosomal recessive cerebellar ataxia-movement disorder syndrome Autosomal recessive spastic ataxia of Charlevoix-Saguenay Spastic paraplegia-precocious puberty syndrome Autosomal dominant cerebellar ataxia Limbic encephalitis associated with antibodies to cell membrane antigens Pure or complex autosomal dominant spastic paraplegia Ataxia-telangiectasia Niemann-Pick disease type C Dentatorubral pallidoluysian atrophy Superficial siderosis Fragile X-associated tremor/ataxia syndrome Spinocerebellar ataxia with axonal neuropathy type 2 Metachromatic leukodystrophy Autosomal dominant cerebellar ataxia type II Amyotrophic lateral sclerosis type 4 Episodic ataxia type 1 Limbic encephalitis with LGI1 antibodies Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy Acquired ataxia Autosomal dominant spastic paraplegia type 41 Autosomal dominant childhood-onset proximal spinal muscular atrophy Spinocerebellar ataxia type 29 Limbic encephalitis with nCMAgs antibodies Pure or complex X-linked spastic paraplegia Paraneoplastic neurologic syndrome Lower motor neuron syndrome with late-adult onset Spectrin-associated autosomal recessive cerebellar ataxia Alexander disease type II Young adult-onset distal hereditary motor neuropathy Spinal muscular atrophy associated with central nervous system anomaly Macrocephaly-spastic paraplegia-dysmorphism syndrome Posterior column ataxia-retinitis pigmentosa syndrome McLeod neuroacanthocytosis syndrome Autosomal dominant adult-onset proximal spinal muscular atrophy Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome Madras motor neuron disease DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy Mills syndrome Rare ataxia Rare genetic neurological disorder MT-ATP6-related mitochondrial spastic paraplegia Ataxia-telangiectasia-like disorder Spastic ataxia-corneal dystrophy syndrome Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Pelizaeus-Merzbacher-like disease Autosomal recessive distal hereditary motor neuropathy Riboflavin transporter deficiency Rare movement disorder Niemann-Pick disease type C, juvenile neurologic onset Autosomal recessive spastic paraplegia type 43 Joubert syndrome and related disorders Autosomal dominant distal hereditary motor neuropathy Amyotrophic lateral sclerosis NMDA receptor encephalitis Autosomal dominant spastic paraplegia type 36 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome Autosomal recessive ataxia, Beauce type Severe Canavan disease Autosomal dominant congenital benign spinal muscular atrophy Rare neurodegenerative disease Huntington disease Spinal atrophy-ophthalmoplegia-pyramidal syndrome Hemidystonia-hemiatrophy syndrome Spinocerebellar ataxia type 37 Rare dystonia Rare parkinsonian disorder Rapid-onset dystonia-parkinsonism Combined dystonia Rare disorder with dystonia and other neurologic or systemic manifestation Non-hereditary degenerative ataxia Rare parkinsonian syndrome due to neurodegenerative disease Isolated dystonia