Cayman type cerebellar ataxia

Term ID

DOID:0060694

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

• ICD10CM:G11.0
• MESH:C563363
• OMIM:601238
• ORDO:94122

Ontology

Human Disease   ( DOID:0060694 )