Metadata | |
---|---|
ID | DOID:0050997 |
Name | cerebellar ataxia, mental retardation and dysequlibrium syndrome |
Definition | An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. http://www.ncbi.nlm.nih.gov/books/NBK1138/, https://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia, https://pubmed.ncbi.nlm.nih.gov/28013290/, https://www.ncbi.nlm.nih.gov/books/NBK1874/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
CAMRQ [EXACT] Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) [EXACT] Uner Tan syndrome [EXACT] VLDLR Cerebellar Hypoplasia [EXACT] |
Parent Relationships |
is_a syndrome |