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

• GARD:5592
• MESH:C536742
• MIM:241080
• ORDO:3464

Ontology

Human Disease   ( DOID:0112264 )