9q33.3q34.11 microdeletion syndrome
MONDO:0044641Mondo
Findings
No curated finding names 9q33.3q34.11 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
53 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 shape of the palpebral fissureHPOHP:0200005
- Very frequent (80% to 99% of cases)
- Axial hypotoniaHPOHP:0008936
- Very frequent (80% to 99% of cases)
- Broad chinHPOHP:0011822
- Very frequent (80% to 99% of cases)
- Bulbous noseHPOHP:0000414
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- DysphagiaHPOHP:0002015
- Very frequent (80% to 99% of cases)
- Full cheeksHPOHP:0000293
- Very frequent (80% to 99% of cases)
- Large foreheadHPOHP:0002003
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Nail dysplasiaHPOHP:0002164
- Very frequent (80% to 99% of cases)
- Patellar dislocationHPOHP:0002999
- Very frequent (80% to 99% of cases)
- Round faceHPOHP:0000311
- Very frequent (80% to 99% of cases)
Show the remaining 41
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Thin vermilion borderHPOHP:0000233
- Very frequent (80% to 99% of cases)
- AsthmaHPOHP:0002099
- Frequent (30% to 79% of cases)
- AstigmatismHPOHP:0000483
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
Where it sits
Other names
5 names
Resolves to: 9q33.3q34.11 microdeletion syndrome
- Also called
- 9q33.3-q34.11 microdeletion syndromeDel(9)(q33.3q34.11)deletion 9q33.3q34.11monosomy 9q33.3-q34.11monosomy 9q33.3q34.11