| Metadata | |
|---|---|
| ID | DOID:0061254 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061254 Copy |
| Name | intellectual developmental disorder with seizures and dysmorphic facies |
| Definition | An autosomal dominant intellectual developmental disorder characterized by mildly impaired intellectual development, learning difficulties, and early-onset seizures that are well controlled by medication that has_material_basis_in heterozygous mutation in the UNC13A gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/41125872/ |
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