Version: 8.0.0
Date: Tue Jan 28 2025
DeSanto-Shinawi syndrome
DOID:0081126
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

DeSanto-Shinawi syndrome

Definition
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
  • Chromosome 10p12-p11 deletion syndrome
  • Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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