6q16 deletion syndrome
MONDO:0015749Mondo
Findings
No curated finding names 6q16 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0015749), read 2026-09-29. CC BY 4.0.
Features
32 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
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- Very frequent (80% to 99% of cases)
- Abnormal temper tantrumsHPOHP:0025160
- Frequent (30% to 79% of cases)
- Almond-shaped palpebral fissureHPOHP:0007874
- Frequent (30% to 79% of cases)
- Full cheeksHPOHP:0000293
- Frequent (30% to 79% of cases)
- MacrocephalyHPOHP:0000256
- Frequent (30% to 79% of cases)
- Narrow foreheadHPOHP:0000341
- Frequent (30% to 79% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
- PolyphagiaHPOHP:0002591
- Frequent (30% to 79% of cases)
- Poor suckHPOHP:0002033
- Frequent (30% to 79% of cases)
Show the remaining 20
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- Upslanted palpebral fissureHPOHP:0000582
- Frequent (30% to 79% of cases)
- Abnormal ear morphologyHPOHP:0031703
- Occasional (5% to 29% of cases)
- Abnormal thorax morphologyHPOHP:0000765
- Occasional (5% to 29% of cases)
- Abnormality of the eyeHPOHP:0000478
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: 6q16 deletion syndrome
- Also called
- Del(6)(q16)monosomy 6q16Prader-Willi-like syndrome due to deletion 6q16