FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Woodhouse-Sakati syndrome ID (Ontology) DOID:0112264 (Human Disease)
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.
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" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Woodhouse-Sakati syndrome
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Is a autosomal recessive disease
syndrome
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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
Secondary IDs
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GARD:5592
MESH:C536742
MIM:241080
ORDO:3464