Search Ontology:
Human Disease

Woodhouse-Sakati syndrome

Term ID
DOID:0112264
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
Ontology
Human Disease   ( DOID:0112264 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models