Chromosome 16p11.2 Deletion Syndrome, 593-kb
Description
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.
Genes related to Chromosome 16p11.2 Deletion Syndrome, 593-kb
- SH2B1
Clinical Features
Top most frequent phenotypes and symptoms related to Chromosome 16p11.2 Deletion Syndrome, 593-kb
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Scoliosis
- Hypertelorism
- Growth delay
- Micrognathia
- Strabismus
- Motor delay
Incidence and onset information
— Based on the latest data available Chromosome 16p11.2 Deletion Syndrome, 593-kb have a estimated prevalence of 20 per 100k worldwide.
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Chromosome 16p11.2 Deletion Syndrome, 593-kb Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
|
SH2B1.
By Fulgent Genetics Fulgent Genetics in United States.
SH2B1
Specificity
100 %
Genes
100 % |
Alternate names
Chromosome 16p11.2 Deletion Syndrome, 593-kb Is also known as ;proximal del(16)(p11.2); proximal monosomy 16p11.2.
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