16p13.2 Microdeletion Syndrome
Table of contents:
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.
Click here to know more about Mendelian.
Incidence and onset information
— Currently we don't have prevalence information about this disease (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.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 % |
You can get up to -7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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