SE-ATLAS

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