|  Help  |  About  |  Contact Us

DO Term : DeSanto-Shinawi syndrome [DOID:0081126] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11.
  • synonyms:
  • WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome,
  • ORDO:284169,
  • Chromosome 10p12-p11 deletion syndrome,
  • ORDO:466943,
  • ORDO:466950,
  • 616708,
  • Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,
  • OMIM:616708,
  • Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents