Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness; Nedhnd

Clinical Features

Top most frequent phenotypes and symptoms related to Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness; Nedhnd

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • High palate
  • Feeding difficulties
  • Visual impairment

And another 20 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.

Alternative names

Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness; Nedhnd Is also known as myopathy, congenital, with neuropathy and deafness, cmnd.

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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Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness; Nedhnd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SPTBN4.

By Fulgent Genetics Fulgent Genetics (United States).

SPTBN4
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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