SE-ATLAS

ATTRV122I amyloidosis Acquired ataxia Acute and subacute inflammatory demyelinating polyneuropathy Acute inflammatory demyelinating polyradiculoneuropathy Acute motor and sensory axonal neuropathy Acute motor axonal neuropathy Acute pandysautonomia Acute pure sensory neuropathy Acute sensory ataxic neuropathy Acute transverse myelitis with anti-MOG antibodies Adult-onset autosomal recessive cerebellar ataxia Adult-onset dystonia-parkinsonism Adult-onset myasthenia gravis Alpha-B crystallin-related late-onset myopathy Alpha-crystallinopathy Ataxia with vitamin E deficiency Ataxia-deafness-intellectual disability syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome Ataxia-oculomotor apraxia type 1 Ataxia-tapetoretinal degeneration syndrome Ataxia-telangiectasia Ataxia-telangiectasia-like disorder Autoimmune encephalopathy with parasomnia and obstructive sleep apnea Autosomal dominant cerebellar ataxia Autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type II Autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar ataxia type IV Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome Autosomal dominant limb-girdle muscular dystrophy type 1A Autosomal dominant spastic ataxia Autosomal dominant spastic ataxia type 1 Autosomal recessive ataxia due to PEX10 deficiency Autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive ataxia, Beauce type Autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxia due to a DNA repair defect Autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Autosomal recessive cerebellar ataxia-movement disorder syndrome Autosomal recessive cerebellar ataxia-psychomotor delay syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive cerebelloparenchymal disorder type 3 Autosomal recessive congenital cerebellar ataxia Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive degenerative and progressive cerebellar ataxia Autosomal recessive metabolic cerebellar ataxia Autosomal recessive spastic ataxia Autosomal recessive spastic ataxia of Charlevoix-Saguenay Autosomal recessive spastic ataxia with leukoencephalopathy Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome Autosomal recessive syndromic cerebellar ataxia Barth syndrome Bethlem muscular dystrophy Bickerstaff brainstem encephalitis Brody myopathy CAMOS syndrome CANOMAD syndrome Cancer-associated retinopathy Cap myopathy Cardiomyopathy-hypotonia-lactic acidosis syndrome Carey-Fineman-Ziter syndrome Cataract-ataxia-deafness syndrome Central core disease Cerebellar ataxia, Cayman type Cerebellar ataxia-hypogonadism syndrome Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Christianson syndrome Chronic acquired demyelinating polyneuropathy Chronic inflammatory demyelinating polyneuropathy Chronic polyradiculoneuropathy Classic stiff person syndrome Dentatorubral pallidoluysian atrophy Desminopathy Distal myopathy with anterior tibial onset Distal myopathy with posterior leg and anterior hand involvement Duane anomaly-myopathy-scoliosis syndrome Dysequilibrium syndrome Dystonia 16 EAST syndrome Early-onset cerebellar ataxia with retained tendon reflexes Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Episodic ataxia type 1 Episodic ataxia type 3 Episodic ataxia type 4 Episodic ataxia type 5 Episodic ataxia type 6 Episodic ataxia type 7 FASTKD2-related infantile mitochondrial encephalomyopathy Familial paroxysmal ataxia Fatal infantile cytochrome C oxidase deficiency Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency Fingerprint body myopathy Finnish upper limb-onset distal myopathy Focal stiff limb syndrome Fragile X-associated tremor/ataxia syndrome Friedreich ataxia Functional variant of Guillain-Barré syndrome Glycogen storage disease due to phosphoglycerate mutase deficiency Glycogen storage disease with hypertrophic cardiomyopathy Guillain-Barré syndrome Hereditary ataxia Hereditary episodic ataxia Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Hereditary myopathy with early respiratory failure Hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary spastic paraplegia Huntington disease Hypertrophic cardiomyopathy due to intensive athletic training Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion myopathy Infantile dystonia-parkinsonism Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Infantile-onset spinocerebellar ataxia Isolated optic neuritis with anti-MOG antibodies Joubert syndrome Joubert syndrome and related disorders Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome with hepatic defect Joubert syndrome with ocular defect Joubert syndrome with oculorenal defect Joubert syndrome with renal defect Juvenile myasthenia gravis KLHL9-related early-onset distal myopathy Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency Lambert-Eaton myasthenic syndrome Lethal ataxia with deafness and optic atrophy Lewis-Sumner syndrome Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3 Marinesco-Sjögren syndrome Miller Fisher syndrome Multifocal motor neuropathy Multiple system atrophy, cerebellar type Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome Muscular glycogenosis Myasthenia gravis Myoclonus-cerebellar ataxia-deafness syndrome NMDA receptor encephalitis Neuromyelitis optica spectrum disorder Neuromyelitis optica spectrum disorder with anti-MOG antibodies Non-hereditary degenerative ataxia Non-progressive cerebellar ataxia with intellectual disability Opsoclonus-myoclonus syndrome Orofaciodigital syndrome type 6 POEMS syndrome Paraneoplastic limbic encephalitis Paraneoplastic neurologic syndrome Paraparetic variant of Guillain-Barré syndrome Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies Posterior column ataxia-retinitis pigmentosa syndrome Progressive encephalomyelitis with rigidity and myoclonus Rapid-onset dystonia-parkinsonism Rare ataxia Rare parkinsonian disorder Rare parkinsonian syndrome due to intoxication Rare parkinsonian syndrome due to neurodegenerative disease Recessive mitochondrial ataxia syndrome Regional variant of Guillain-Barré syndrome Richards-Rundle syndrome Severe X-linked mitochondrial encephalomyopathy Spastic ataxia Spastic ataxia with congenital miosis Spastic ataxia-corneal dystrophy syndrome Spectrin-associated autosomal recessive cerebellar ataxia Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 20 Spinocerebellar ataxia type 21 Spinocerebellar ataxia type 23 Spinocerebellar ataxia type 25 Spinocerebellar ataxia type 26 Spinocerebellar ataxia type 27 Spinocerebellar ataxia type 28 Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 30 Spinocerebellar ataxia type 31 Spinocerebellar ataxia type 32 Spinocerebellar ataxia type 34 Spinocerebellar ataxia type 35 Spinocerebellar ataxia type 36 Spinocerebellar ataxia type 37 Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 8 Spinocerebellar ataxia with axonal neuropathy type 1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia-dysmorphism syndrome Spinocerebellar degeneration-corneal dystrophy syndrome Sporadic adult-onset ataxia of unknown etiology Steroid-responsive encephalopathy associated with autoimmune thyroiditis Stiff person spectrum disorder Subacute inflammatory demyelinating polyneuropathy Superficial siderosis TMEM70-related mitochondrial encephalo-cardio-myopathy TRIM32-related limb-girdle muscular dystrophy R8 Transient neonatal myasthenia gravis Variant of Guillain-Barré syndrome X-linked cerebellar ataxia X-linked dystonia-parkinsonism X-linked intellectual disability-ataxia-apraxia syndrome X-linked non progressive cerebellar ataxia X-linked progressive cerebellar ataxia X-linked sideroblastic anemia and spinocerebellar ataxia X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 4