| Metadata | |
|---|---|
| ID | DOID:0110683 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110683 Copy |
| Name | developmental and epileptic encephalopathy 117 |
| Definition | A developmental and epileptic encephalopathy that is characterized by global developmental delay, hypotonia, delayed walking or inability to walk, and variably impaired intellectual development with poor or absent speech and that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. https://pubmed.ncbi.nlm.nih.gov/33299146/, https://www.ncbi.nlm.nih.gov/pubmed/25381298 |
| Xrefs | |
| Synonyms |
CMS18 [EXACT] congenital myasthenic syndrome 18 [EXACT] DEE117 [EXACT] |
| Parent Relationships |
is_a developmental and epileptic encephalopathy is_a physical disorder |