Conditions / Syndrome
Woodhouse-Sakati syndrome
info · Syndrome
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 chromo
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.
Signs and symptoms
- Hypogonadotropic hypogonadism
- Alopecia
- Type I diabetes mellitus
- Hypogonadism
- Absent speech
- Infertility
- Delayed puberty
- Azoospermia
- Blepharospasm
- Primary amenorrhea
Also known as: 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