| Metadata | |
|---|---|
| ID | DOID:0080237 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080237 Copy |
| Name | autosomal dominant intellectual developmental disorder 46 |
| Definition | An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. https://pubmed.ncbi.nlm.nih.gov/28669405/ |
| Xrefs | |
| Synonyms |
autosomal dominant mental retardation 46 [EXACT] |
| Parent Relationships |