cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome

Term ID

DOID:0050997

Synonyms

• CAMRQ
• CAMRQ syndrome
• cerebellar ataxia and mental retardation with or without quadrupedal locomotion
• cerebellar ataxia, mental retardation, and disequilibrium syndrome
• cerebellar ataxia, mental retardation, and dysequilibrium syndrome
• DES
• disequilibrium syndrome
• dysequilibrium syndrome
• Uner Tan syndrome
• UTS

Definition

A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (5)

References

• GARD:1998
• MIM:PS224050
• ORDO:1766
• SNOMEDCT_US_2025_09_01:213341009
• UMLS_CUI:C0394006

Ontology

Human Disease   ( DOID:0050997 )