Term Name: Van Esch-O'Driscoll syndrome
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 )

Relationships
is a type of: syndromic X-linked intellectual disability X-linked recessive disease