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Metadata
ID DOID:0060694
Name Cayman type cerebellar ataxia
Definition An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3.
https://www.ncbi.nlm.nih.gov/pubmed/14556008, https://www.ncbi.nlm.nih.gov/pubmed/8845847
Xrefs

ICD10CM:G11.0

MESH:C563363

OMIM:601238

ORDO:94122

Subsets

DO_rare_slim

Synonyms

Cayman cerebellar ataxia [EXACT]

Parent Relationships

is_a autosomal recessive cerebellar ataxia

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