| Metadata | |
|---|---|
| ID | DOID:0070740 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070740 Copy |
| Name | cerebellar atrophy, developmental delay, and seizures |
| Definition | An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy, seizures, and severe developmental delay, including the inability to walk and speech limited to a few words only, that has_material_basis_in homozygous mutation in the KCNMA1 gene on chromosome 10q22. https://pubmed.ncbi.nlm.nih.gov/27567911/, https://pubmed.ncbi.nlm.nih.gov/29545233/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C4539985 exactMatch MIM:617643 |
| Subsets |
DO_rare_slim |
| Synonyms |
CADEDS [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 |