Kahrizi syndrome
MONDO:0012991Mondo
Findings
No curated finding names Kahrizi syndrome 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 · Infantile onset
HPO, annotations 2026-09-02
Features
13 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.
- Bulbous noseHPOHP:0000414
- 3 of 3 reported patients
- CataractHPOHP:0000518
- 3 of 3 reported patients
- Elbow contractureHPOHP:0034391
- 3 of 3 reported patients
- Knee flexion contractureHPOHP:0006380
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 3 of 3 reported patients
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Thick vermilion borderHPOHP:0012471
- 3 of 3 reported patients
- Thoracic kyphosisHPOHP:0002942
- 3 of 3 reported patients
- Wide nasal bridgeHPOHP:0000431
- 3 of 3 reported patients
- Iris colobomaHPOHP:0000612
- 2 of 3 reported patients
- Facial hemangiomaHPOHP:0000329
- 1 of 3 reported patients
Show the remaining 1
- SeizureHPOHP:0001250
- 0 of 3 reported patients
Where it sits
- A kind of