| Metadata | |
|---|---|
| ID | DOID:0070741 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070741 Copy |
| Name | cerebellar atrophy with seizures and variable developmental delay |
| Definition | An autosomal recessive intellectual developmental disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging, seizures, and variable developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D2 gene on chromosome 3p21. https://pubmed.ncbi.nlm.nih.gov/23339110/, https://pubmed.ncbi.nlm.nih.gov/29997391/ |
| Xrefs | |
| SKOS |
exactMatch MIM:618501 exactMatch UMLS_CUI:C5193132 |
| Subsets |
DO_rare_slim |
| Synonyms |
CASVDD [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has phenotype some Cerebellar atrophy |