OBO ID: DOID:0060694
Term Name: Cayman type cerebellar ataxia Search Ontology:
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. (2)
References:
Ontology: Human Disease   ( DOID:0060694 )
OTHER Cayman type cerebellar ataxia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATCAY Ataxia, cerebellar, Cayman type 601238
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None