| 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 | |
| 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 |