Okur-chung Neurodevelopmental Syndrome; Ocnds

Description

Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Okur-chung Neurodevelopmental Syndrome; Ocnds

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Hypertelorism
  • Failure to thrive
  • Micrognathia

And another 29 symptoms. If you need more information about this disease we can help you.

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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.

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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Okur-chung Neurodevelopmental Syndrome; Ocnds Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CSNK2A1.

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By OmniSeq, Inc. (United States).

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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