cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3

Term ID

DOID:0070558

Synonyms

• CAMRQ syndrome 3
• CAMRQ3
• cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
• cerebellar ataxia, mental retardation, and disequilibrium syndrome 3
• cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3

Definition

A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1. (3)

References

• MESH:C567690
• MIM:613227
• UMLS_CUI:C2750509

Ontology

Human Disease   ( DOID:0070558 )