monosomy 22
MONDO:0019891Mondo
Findings
No curated finding names monosomy 22 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
40 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.
- Abnormality of the periorbital regionHPOHP:0000606
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Flat faceHPOHP:0012368
- Frequent (30% to 79% of cases)
- High foreheadHPOHP:0000348
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Long philtrumHPOHP:0000343
- Frequent (30% to 79% of cases)
- MeningiomaHPOHP:0002858
- Frequent (30% to 79% of cases)
- Narrow palpebral fissureHPOHP:0045025
- Frequent (30% to 79% of cases)
- Open mouthHPOHP:0000194
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
Show the remaining 28
- Prominent occiputHPOHP:0000269
- Frequent (30% to 79% of cases)
- RetrognathiaHPOHP:0000278
- Frequent (30% to 79% of cases)
- SarcomaHPOHP:0100242
- Frequent (30% to 79% of cases)
- SchwannomaHPOHP:0100008
- Frequent (30% to 79% of cases)
- Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
- Single transverse palmar creaseHPOHP:0000954
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
- Narrower terms (1)
Other names
3 names
Resolves to: monosomy 22
- Also called
- Del(22)deletion 22monosomy type 22