DISEASES

Disease-gene associations mined from literature

Human genes for Cayman type cerebellar ataxia

Cayman type cerebellar ataxia [DOID:0060694]

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 type cerebellar ataxia,  Cayman type cerebellar ataxias,  DOID:0060694,  Cayman cerebellar ataxia,  Cayman cerebellar ataxias