Proximal 16p11.2 microdeletion syndrome
ORPHA:261197· ICD-10 Q93.5
Definition
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Childhood