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Metadata
ID DOID:0112264
Name Woodhouse-Sakati syndrome
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.
https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome/, https://pubmed.ncbi.nlm.nih.gov/19026396/, https://pubmed.ncbi.nlm.nih.gov/6876115/
Xrefs

GARD:5592

MESH:C536742

MIM:241080

ORDO:3464

Subsets

DO_rare_slim

Synonyms

diabetes-hypogonadism-deafness-intellectual disability syndrome [EXACT]

diabetes-hypogonadism-hearing loss-intellectual disability syndrome [EXACT]

hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome [EXACT]

progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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