| Metadata | |
|---|---|
| ID | DOID:0111840 |
| Name | Van Esch-O'Driscoll syndrome |
| Definition | A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. https://www.ncbi.nlm.nih.gov/pubmed/31006512 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
MRXSVEOD [EXACT] VEODS [EXACT] X-linked intellectual disability, Van Esch type [EXACT] X-linked syndromic mental retardation Van Esch-O'Driscoll type [EXACT] |
| Parent Relationships |