| Metadata | |
|---|---|
| ID | DOID:0112037 |
| Name | chromosome Xp11.22 duplication syndrome |
| Definition | A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes. https://pubmed.ncbi.nlm.nih.gov/22840365/, https://pubmed.ncbi.nlm.nih.gov/7943039/ |
| Xrefs | |
| Synonyms |
MRX17 [EXACT] MRX31 [EXACT] X-linked mental retardation 17 [EXACT] X-linked mental retardation 31 [EXACT] Xp11.22 microduplication syndrome [EXACT] |
| Parent Relationships |