proximal 16p11.2 microdeletion syndrome
MONDO:0012756Mondo
Findings
No curated finding names proximal 16p11.2 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
Definition from the Mondo Disease Ontology (MONDO:0012756), read 2026-09-29. CC BY 4.0.
- Inheritance
- Contiguous gene syndrome
HPO, annotations 2026-09-02
Features
53 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.
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Autistic behaviorHPOHP:0000729
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
Show the remaining 41
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- Speech articulation difficultiesHPOHP:0009088
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- 8 of 16 reported patients
- Abnormal aortic valve morphologyHPOHP:0001646
- Occasional (5% to 29% of cases)
- Abnormal facial shapeHPOHP:0001999
- Occasional (5% to 29% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
Where it sits
Other names
4 names
Resolves to: proximal 16p11.2 microdeletion syndrome
- Also called
- autism susceptibility 14Achromosome 16p11.2 deletion syndrome, 593kbproximal del(16)(p11.2)proximal monosomy 16p11.2