ZFIN Human Disease: Woodhouse-Sakati syndrome

OBO ID: DOID:0112264

Term Name:	Woodhouse-Sakati syndrome		Search Ontology:
Synonyms:	diabetes-hypogonadism-deafness-intellectual disability syndrome diabetes-hypogonadism-hearing loss-intellectual disability syndrome hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia
Definition:	A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. (3)
References:	GARD:5592 MESH:C536742 OMIM:241080 ORDO:3464
Ontology:	Human Disease ( DOID:0112264 )

Relationships

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

OTHER Woodhouse-Sakati syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DCAF17	dcaf17	Woodhouse-Sakati syndrome	241080

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None