Wilson-Turner syndrome
Findings
No curated finding names Wilson-Turner syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.
Definition from the Mondo Disease Ontology (MONDO:0010665), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
30 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.
- Intellectual disabilityHPOHP:0001249
- 14 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Thick eyebrowHPOHP:0000574
- 14 of 14 reported patients
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- 12 of 14 reported patients
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Broad nasal tipHPOHP:0000455
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- 7 of 14 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 18
- MicrotiaHPOHP:0008551
- Very frequent (80% to 99% of cases)
- Pes cavusHPOHP:0001761
- 3 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Pes planusHPOHP:0001763
- 4 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Poor speechHPOHP:0002465
- Very frequent (80% to 99% of cases)
- Prominent supraorbital ridgesHPOHP:0000336
- Very frequent (80% to 99% of cases)
- Short footHPOHP:0001773
Genes
2 genes
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.
Where it sits
Other names
8 names
Resolves to: Wilson-Turner syndrome
- Also called
- intellectual disability, X-linked, syndromic 6intellectual disability, X-linked, with gynecomastia and obesitymental retardation, X-linked, syndromic 6mental retardation, X-linked, with gynecomastia and obesityMRXS6Wilson-Turner syndrome, X-linked recessiveWTSX-linked intellectual disability-gynecomastia-obesity syndrome