chromosome 2p16.1-p15 deletion syndrome
MONDO:0012916Mondo
Findings
No curated finding names chromosome 2p16.1-p15 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0012916), read 2026-09-29. CC BY 4.0.
- Inheritance
- Sporadic
HPO, annotations 2026-09-02
Features
84 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.
- Global developmental delayHPOHP:0001263
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 11 of 11 reported patients
- Feeding difficultiesHPOHP:0011968
- 7 of 8 reported patients
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- 9 of 11 reported patients
- Very frequent (80% to 99% of cases)
- BlepharophimosisHPOHP:0000581
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
Show the remaining 72
- Narrow mouthHPOHP:0000160
- Very frequent (80% to 99% of cases)
- Optic atrophyHPOHP:0000648
- Very frequent (80% to 99% of cases)
- Optic nerve hypoplasiaHPOHP:0000609
- 4 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Smooth philtrumHPOHP:0000319
Where it sits
Other names
6 names
Resolves to: chromosome 2p16.1-p15 deletion syndrome
- Also called
- 2p15-p16.1 microdeletion syndrome2p15p16.1 microdeletion syndromechromosome 2p16.1-p15 deletion syndrome, isolated casesDel(2)(p15p16.1)monosomy 2p15-p16.1monosomy 2p15p16.1