| Metadata | |
|---|---|
| ID | DOID:0060806 |
| Name | syndromic X-linked intellectual disability Hedera type |
| Definition | A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. https://www.ncbi.nlm.nih.gov/pubmed/11782983, https://www.ncbi.nlm.nih.gov/pubmed/15746149 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
mental retardation, X-linked, syndromic, Hedera type [EXACT] MRXE [EXACT] MRXSH [EXACT] X-linked mental retardation with epilepsy [EXACT] |
| Parent Relationships |