Cayman type cerebellar ataxia

Summary

DOID:0060694 - Cayman type cerebellar ataxia

Disease Ontology 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.

Synonyms: Cayman cerebellar ataxia

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: atcay

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011025 - Cayman type cerebellar ataxia

MONDO:0011025 - Cayman type cerebellar ataxia

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive cerebellar ataxia (is_a), cerebellar ataxia (is_a)