chromosome 16q22 deletion syndrome
MONDO:0013798Mondo
Findings
No curated finding names chromosome 16q22 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Sporadic
HPO, annotations 2026-09-02
Features
24 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.
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Growth delayHPOHP:0001510
- 6 of 6 reported patients
- High foreheadHPOHP:0000348
- 6 of 6 reported patients
- Low-set earsHPOHP:0000369
- 5 of 6 reported patients
- MicrognathiaHPOHP:0000347
- 5 of 6 reported patients
- Wide anterior fontanelHPOHP:0000260
- 4 of 5 reported patients
- Broad halluxHPOHP:0010055
- 4 of 6 reported patients
- High palateHPOHP:0000218
- 4 of 6 reported patients
- Poor suckHPOHP:0002033
- 4 of 6 reported patients
- HypertelorismHPOHP:0000316
- 3 of 6 reported patients
Show the remaining 12
- HypospadiasHPOHP:0000047
- 1 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 6 reported patients
- Wide nasal bridgeHPOHP:0000431
- 3 of 6 reported patients
- Prominent metopic ridgeHPOHP:0005487
- 2 of 6 reported patients
- Single transverse palmar creaseHPOHP:0000954
- 2 of 6 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 2 of 6 reported patients
Where it sits
Other names
1 name
Resolves to: chromosome 16q22 deletion syndrome
- Also called
- chromosome 16q22 deletion syndrome, isolated cases