Mental Retardation, Autosomal Dominant 53; Mrd53

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 53; Mrd53

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Epicanthus
  • Downslanted palpebral fissures

And another 9 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.

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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Mental Retardation, Autosomal Dominant 53; Mrd53 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CAMK2A.

By Fulgent Genetics Fulgent Genetics (United States).

CAMK2A
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.

OMIM Rare Disease Search Engine

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