| children | - Arts syndrome 702441001
- Ataxia co-occurrent and due to abetalipoproteinemia 724770001
- Ataxia co-occurrent and due to cerebrotendinous xanthomatosis 724768005 removed: 2021-07-31
- Ataxia co-occurrent and due to phytanic acid storage disease 724769002
- Ataxia pancytopenia syndrome 768556005
- Ataxia with deafness and intellectual disability syndrome 720517001
- Ataxia with tapetoretinal degeneration syndrome 783203003
- Autosomal dominant cerebellar ataxia type 2 1156796002
- Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome 722293005
- Autosomal dominant spastic ataxia type 1 784380009
- Autosomal recessive ataxia due to ubiquinone deficiency 725394006
- Autosomal recessive cerebellar ataxia Beauce type 725433003
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002
- Autosomal recessive cerebellar ataxia with late-onset spasticity 763348005
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 715366004
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 725408001
- Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome 766814006
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency 773498006
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency 770898002
- Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome 763312008
- Autosomal recessive posterior column ataxia and retinitis pigmentosa 724065003
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay 702445005
- Autosomal recessive spastic ataxia with leukoencephalopathy 784343003
- Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome 784347002
- Boucher Neuhäuser syndrome 715984007
- CAMOS syndrome 726031001
- Cerebellar ataxia and ectodermal dysplasia 715371006
- Cerebellar ataxia Cayman type 717332007
- Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 1236804009
- Cerebellar ataxia with oculomotor apraxia type 4 1217230002
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome 720634003
- Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 763344007
- Childhood-onset spasticity with hyperglycinemia 773492007
- Christianson syndrome 702354007
- CLCN2-related leukoencephalopathy 768663003
- Congenital cataract with ataxia and deafness syndrome 719102004
- Congenital cerebellar ataxia due to RNU12 mutation 1177169004
- Dentatorubropallidoluysian degeneration 68116008
- Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome 771514002
- EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome 700448000 removed: 2020-07-31
- Episodic ataxia 421455009
- Fragile X associated tremor ataxia syndrome 448045004
- Friedreich ataxia 10394003
- Gemignani syndrome 782690007
- Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum 724283004
- Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome 721846006
- Infantile multisystem neurologic, endocrine, pancreatic disease 1260450002
- Infantile-onset autosomal recessive non progressive cerebellar ataxia 785300001
- Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000
- Intellectual disability, hyperkinetic movement, truncal ataxia syndrome 787174003
- Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome 1255271005
- Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome 764095005
- Marinesco-Sjögren syndrome 80734006
- Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome 1237514002
- Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 237611007
- Myoclonus, cerebellar ataxia, deafness syndrome 733065003
- NARP syndrome 237984008
- Neuhauser Eichner Opitz syndrome 1208339007
- Neuropathy in association with hereditary ataxia 193165008
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007
- Non-progressive cerebellar ataxia with intellectual disability 723441001
- Odontoleukodystrophy 722064003
- Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009
- Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome 1237413006
- Progressive cerebellar ataxia with hypogonadism 230240004
- Recessive mitochondrial ataxia syndrome 782696001
- Saldino-Mainzer dysplasia 254092004
- Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome 721207002
- Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome 717266001
- Spastic ataxia with congenital miosis 763669001
- Spastic ataxia, dysarthria due to glutaminase deficiency 1255323007
- Spastic paraplegia type 7 715776003
- Spectrin-associated autosomal recessive cerebellar ataxia 763351003
- Spinocerebellar ataxia 129609000
- Vanishing white matter disease 447351004
- X-linked intellectual disability with ataxia and apraxia syndrome 718845002
- X-linked neurodegenerative syndrome Bertini type 718849008
- X-linked non progressive cerebellar ataxia 766818009
- X-linked progressive cerebellar ataxia 827172005
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