arthrogryposis, Perthes disease, and upward gaze palsy
MONDO:0013660Mondo
Findings
No curated finding names arthrogryposis, Perthes disease, and upward gaze palsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
10 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.
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 3 of 3 reported patients
- AsthmaHPOHP:0002099
- 3 of 3 reported patients
- Avascular necrosis of the capital femoral epiphysisHPOHP:0005743
- 3 of 3 reported patients
- Upgaze palsyHPOHP:0025331
- 3 of 3 reported patients
- CamptodactylyHPOHP:0012385
- 2 of 3 reported patients
- Pulmonic stenosisHPOHP:0001642
- 2 of 3 reported patients
- Pyloric stenosisHPOHP:0002021
- 2 of 3 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 3 reported patients
- Overlapping toeHPOHP:0001845
- 1 of 3 reported patients
- Ventricular septal defectHPOHP:0001629
- 1 of 3 reported patients
Where it sits
- A kind of