chromosome 16p12.1 deletion syndrome, 520kb
MONDO:0007631Mondo
Findings
No curated finding names chromosome 16p12.1 deletion syndrome, 520kb yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.
Definition from the Mondo Disease Ontology (MONDO:0007631), read 2026-09-29. CC BY 4.0.
Features
9 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.
- Delayed speech and language developmentHPOHP:0000750
- 15 of 15 reported patients
- Global developmental delayHPOHP:0001263
- 42 of 42 reported patients
- Atypical behaviorHPOHP:0000708
- 9 of 16 reported patients
- HypotoniaHPOHP:0001252
- 10 of 21 reported patients
- Growth delayHPOHP:0001510
- 9 of 22 reported patients
- SeizureHPOHP:0001250
- 8 of 22 reported patients
- MicrocephalyHPOHP:0000252
- 7 of 20 reported patients
- Hypoplastic left ventricleHPOHP:0004383
- 4 of 21 reported patients
- Intellectual disabilityHPOHP:0001249
Where it sits
Other names
3 names
Resolves to: chromosome 16p12.1 deletion syndrome, 520kb
- Also called
- chromosome 16p12.1 deletion syndromechromosome 16p12.1 deletion syndrome, type 520kbRecurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)