chromosome 15q13.3 microdeletion syndrome
MONDO:0012774Mondo
Findings
No curated finding names chromosome 15q13.3 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.
Definition from the Mondo Disease Ontology (MONDO:0012774), read 2026-09-29. CC BY 4.0.
- Inheritance
- Typified by incomplete penetrance
HPO, annotations 2026-09-02
Features
33 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
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- 10 of 19 reported patients
- HypotoniaHPOHP:0001252
- 9 of 18 reported patients
- Occasional (5% to 29% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- 3 of 19 reported patients
- Occasional (5% to 29% of cases)
Show the remaining 21
- Frontal bossingHPOHP:0002007
- Occasional (5% to 29% of cases)
- MacrocephalyHPOHP:0000256
- Occasional (5% to 29% of cases)
- MacrotiaHPOHP:0000400
- Occasional (5% to 29% of cases)
- Melanocytic nevusHPOHP:0000995
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
- Prominent nasal tipHPOHP:0005274
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: chromosome 15q13.3 microdeletion syndrome
- Also called
- 15q13.3 microdeletion syndromeDel(15)(q13.3)monosomy 15q13.3