Cerebellar ataxia cayman type (ATCAY) is an autosomal recessive disorder characterized by hypotonia, mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia. It has been reported that mutation of the ATCAY gene encoding Caytaxin causes ATCAY by interfering with normal splicing.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Movement disorders
8A03 Ataxic disorders
H01038 Cerebellar ataxia cayman type
