distal 16p11.2 microdeletion syndrome
Findings
No curated finding names distal 16p11.2 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.
Definition from the Mondo Disease Ontology (MONDO:0013267), read 2026-09-29. CC BY 4.0.
Features
26 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.
- ArachnodactylyHPOHP:0001166
- Very frequent (80% to 99% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Low anterior hairlineHPOHP:0000294
- Very frequent (80% to 99% of cases)
- Narrow mouthHPOHP:0000160
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Aganglionic megacolonHPOHP:0002251
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
- Chronic constipationHPOHP:0012450
- Frequent (30% to 79% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- HyperuricemiaHPOHP:0002149
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
Where it sits
Other names
4 names
Resolves to: distal 16p11.2 microdeletion syndrome
- Also called
- body mass index QTL16chromosome 16p11.2 deletion syndrome, type 220kbdistal del(16)(p11.2)distal monosomy 16p11.2