Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness; Nedhnd
Table of contents:
Genes related to Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness; Nedhnd
- SPTBN4
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.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 % |
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.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2 HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA