chromosome 16p12.2-p11.2 deletion syndrome
MONDO:0013320Mondo
Findings
No curated finding names chromosome 16p12.2-p11.2 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0013320), read 2026-09-29. CC BY 4.0.
- Inheritance
- Sporadic
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
63 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.
- Feeding difficultiesHPOHP:0011968
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Chronic otitis mediaHPOHP:0000389
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- 3 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Gastroesophageal refluxHPOHP:0002020
- 4 of 5 reported patients
Show the remaining 51
- BlepharophimosisHPOHP:0000581
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- 2 of 5 reported patients
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- 2 of 5 reported patients
- Frequent (30% to 79% of cases)
- Flat faceHPOHP:0012368
Where it sits
Other names
6 names
Resolves to: chromosome 16p12.2-p11.2 deletion syndrome
- Also called
- 16p11.2-p12.2 microdeletion syndrome16p11.2p12.2 microdeletion syndromechromosome 16p12.2-p11.2 deletion syndrome, isolated casesDel(16)(p11.2p12.2)monosomy 16p11.2-p12.2monosomy 16p11.2p12.2