16p13.2 Microdeletion Syndrome

Clinical Features

Top most frequent phenotypes and symptoms related to 16p13.2 Microdeletion Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Abnormal facial shape
  • Muscular hypotonia
  • Cryptorchidism
  • Low-set ears
  • Delayed speech and language development

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

16p13.2 Microdeletion Syndrome Is also known as del(16)(p13.2), monosomy 16p13.2.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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16p13.2 Microdeletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
USP7.

By Fulgent Genetics Fulgent Genetics (United States).

USP7
Specificity
100 %
Genes
100 %

We have -7 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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