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Woodhouse-Sakati syndrome
rareWoodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
- Identifiers
- MONDO:0009419 OMIM:241080Orphanet:3464
- Causal genes
- DCAF17
- Part of
- Congenital hypogonadotropic hypogonadismInherited dystoniaNeurodegeneration with brain iron accumulation
- Also known as
- diabetes-hypogonadism-deafness-intellectual disability syndrome · extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia · hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome · hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities · hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities
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