cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4

Term ID

DOID:0070559

Synonyms

• CAMRQ syndrome 4
• CAMRQ4
• cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4
• cerebellar ataxia, mental retardation, and disequilibrium syndrome 4
• cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4

Definition

A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13. (2)

References

• MIM:615268

Ontology

Human Disease   ( DOID:0070559 )