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Cayman type cerebellar ataxia

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.
Uniprot Description Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0011025:  Cayman type cerebellar ataxia
MESH:C563363: 
Orphanet:94122: 
SCTID:717332007: 
UMLS:C1832585: