cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1

Term ID

DOID:0070556

Synonyms

• CAMRQ syndrome 1
• CAMRQ1
• cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1
• cerebellar ataxia, mental retardation, and disequilibrium syndrome 1
• cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
• cerebellar hypoplasia, VLDLR-associated
• DES-VLDLR
• dysequilibrium syndrome-VLDLR
• VLDLR cerebellar hypoplasia
• VLDLR-associated cerebellar hypoplasia
• VLDLR-CH

Definition

A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2. (4)

References

• MIM:224050
• UMLS_CUI:C4551552

Ontology

Human Disease   ( DOID:0070556 )