Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111840 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models