Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
Cayman cerebellar ataxia [EXACT] |
Parent Relationships |