Van Esch-O'Driscoll syndrome (DOID:0111840)
Alliance: disease page
Synonyms: MRXSVEOD; VEODS; X-linked intellectual disability, Van Esch type; X-linked syndromic mental retardation Van Esch-O'Driscoll type
Alt IDs: OMIM:301030, ORDO:163976
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.