ZFIN Human Disease: DeSanto-Shinawi syndrome

OBO ID: DOID:0081126

Term Name:	DeSanto-Shinawi syndrome		Search Ontology:
Synonyms:	Chromosome 10p12-p11 deletion syndrome Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation WAC-related facial dysmorphism-developmental delay-behavioral abnormalities 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. (3)
References:	OMIM:616708 ORDO:284169 ORDO:466943 ORDO:466950
Ontology:	Human Disease ( DOID:0081126 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER DeSanto-Shinawi syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
WAC	waca wacb	Desanto-Shinawi syndrome	616708

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None