| Metadata | |
|---|---|
| ID | DOID:0070559 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070559 Copy |
| Name | cerebellar ataxia, impaired intellectual development, 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. https://pubmed.ncbi.nlm.nih.gov/22892528/, https://pubmed.ncbi.nlm.nih.gov/31612321/ |
| Xrefs | |
| SKOS |
exactMatch MIM:615268 |
| Subsets |
DO_rare_slim |
| Synonyms |
CAMRQ syndrome 4 [EXACT] CAMRQ4 [EXACT] cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4 [EXACT] cerebellar ataxia, mental retardation, and disequilibrium syndrome 4 [EXACT] cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [EXACT] |
| Parent Relationships |
is_a cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome |