15q14 microdeletion syndrome
MONDO:0014822Mondo
Findings
No curated finding names 15q14 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0014822), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
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.
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- 1 of 1 reported patient
Show the remaining 20
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Biparietal narrowingHPOHP:0004422
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Narrow foreheadHPOHP:0000341
- Frequent (30% to 79% of cases)
- Smooth philtrumHPOHP:0000319
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: 15q14 microdeletion syndrome
- Also called
- Del(15)(q14)monosomy 15q14