Term Name: | Van Esch-O'Driscoll syndrome |
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Synonyms: | MRXSVEOD, VEODS, X-linked intellectual disability, Van Esch type, X-linked syndromic mental retardation Van Esch-O'Driscoll type |
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. |
Ontology: | Human Disease [DOID:0111840] ( DOID:0111840 ) |