|
DOID:0060694 - Cayman type cerebellar ataxia
Disease Ontology Definition:A cerebellar ataxia characterized by marked autosomal recessie 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.
Synonyms: Cayman cerebellar ataxia,
Echinobase Genes :
MIM:601238 - cerebellar ataxia, cayman type; atcay |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
cerebellar ataxia (is_a)