Term Name: | Cayman type cerebellar ataxia |
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Synonyms: | Cayman 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. |
Ontology: | Human Disease [DOID:0060694] ( DOID:0060694 ) |