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.

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
And another 88 symptoms. If you need more information about this disease we can help you.
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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.


Mendelian

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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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