Van Esch-O'Driscoll syndrome

Term ID

DOID:0111840

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. https://www.ncbi.nlm.nih.gov/pubmed/31006512

References

• OMIM:301030
• ORDO:163976

Ontology

Human Disease   ( DOID:0111840 )