Woodhouse-Sakati syndrome

Summary

DOID:0112264 - Woodhouse-Sakati syndrome

Disease Ontology 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.

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dcaf17

MIM:

MIM:241080 - woodhouse-sakati syndrome

MIM:241080 - woodhouse-sakati syndrome

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), syndrome (is_a)