cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2

Term ID

DOID:0070557

Synonyms

• CAMRQ syndrome 2
• CAMRQ2
• cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2
• cerebellar ataxia, mental retardation, and disequilibrium syndrome 2
• cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

Definition

A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3. (2)

References

• MESH:C567656
• MIM:610185
• UMLS_CUI:C2750234

Ontology

Human Disease   ( DOID:0070557 )