| Metadata | |
|---|---|
| ID | DOID:0070556 |
| Name | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 |
| 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. https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/, https://pubmed.ncbi.nlm.nih.gov/21885617/, https://pubmed.ncbi.nlm.nih.gov/27000652/, https://www.ncbi.nlm.nih.gov/books/NBK1874/ |
| Xrefs | |
| SKOS |
exactMatch MIM:224050 exactMatch UMLS_CUI:C4551552 |
| Subsets |
DO_rare_slim |
| Synonyms |
CAMRQ syndrome 1 [EXACT] CAMRQ1 [EXACT] cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1 [EXACT] cerebellar ataxia, mental retardation, and disequilibrium syndrome 1 [EXACT] cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 [EXACT] cerebellar hypoplasia, VLDLR-associated [EXACT] DES-VLDLR [EXACT] dysequilibrium syndrome-VLDLR [EXACT] VLDLR cerebellar hypoplasia [EXACT] VLDLR-associated cerebellar hypoplasia [EXACT] VLDLR-CH [EXACT] |
| Parent Relationships |
is_a cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome |