9q31.1q31.3 microdeletion syndrome
MONDO:0018428Mondo
Findings
No curated finding names 9q31.1q31.3 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
22 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.
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Aortic regurgitationHPOHP:0001659
- Frequent (30% to 79% of cases)
- Bicuspid aortic valveHPOHP:0001647
- Frequent (30% to 79% of cases)
- Broad chinHPOHP:0011822
- Frequent (30% to 79% of cases)
- Broad nasal tipHPOHP:0000455
- Frequent (30% to 79% of cases)
- Cervical kyphosisHPOHP:0002947
- Frequent (30% to 79% of cases)
- Dilated cardiomyopathyHPOHP:0001644
- Frequent (30% to 79% of cases)
- Flat faceHPOHP:0012368
- Frequent (30% to 79% of cases)
- Highly arched eyebrowHPOHP:0002553
- Frequent (30% to 79% of cases)
- HypercholesterolemiaHPOHP:0003124
- Frequent (30% to 79% of cases)
- Mandibular prognathiaHPOHP:0000303
- Frequent (30% to 79% of cases)
- Mild global developmental delayHPOHP:0011342
- Frequent (30% to 79% of cases)
Show the remaining 10
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- OverweightHPOHP:0025502
- Frequent (30% to 79% of cases)
- Renovascular hypertensionHPOHP:0100817
- Frequent (30% to 79% of cases)
- Short claviclesHPOHP:0000894
- Frequent (30% to 79% of cases)
- Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: 9q31.1q31.3 microdeletion syndrome
- Also called
- Del(9)(q31.1q31.3)monosomy 9q31.1q31.3