Woodhouse-Sakati syndrome
Findings
No curated finding names Woodhouse-Sakati syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
Definition from the Mondo Disease Ontology (MONDO:0009419), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
48 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- AlopeciaHPOHP:0001596
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- AzoospermiaHPOHP:0000027
- 1 of 1 reported patient
- BlepharospasmHPOHP:0000643
- 1 of 1 reported patient
- Delayed pubertyHPOHP:0000823
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HypogonadismHPOHP:0000135
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 36
- Aplasia/Hypoplasia of the eyebrowHPOHP:0100840
- Very frequent (80% to 99% of cases)
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- Very frequent (80% to 99% of cases)
- ChoreoathetosisHPOHP:0001266
- Very frequent (80% to 99% of cases)
- Decreased response to growth hormone stimulation testHPOHP:0000824
- Very frequent (80% to 99% of cases)
- Decreased serum estradiolHPOHP:0008214
- Very frequent (80% to 99% of cases)
- Decreased serum testosterone concentrationHPOHP:0040171
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DCAF17HGNC:25784
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2026
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Woodhouse-Sakati syndrome
- Also called
- diabetes-hypogonadism-deafness-intellectual disability syndrome