Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language; Ndhsal

Clinical Features

Top most frequent phenotypes and symptoms related to Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language; Ndhsal

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Ptosis
  • High palate
  • Feeding difficulties

And another 31 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.
— The onset for some of the known clinical features related to this disease may vary, including infantile 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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Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language; Ndhsal Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
HECW2.

By Fulgent Genetics Fulgent Genetics (United States).

HECW2
Specificity
100 %
Genes
100 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics (Finland).

SCN1A, SCN1B, SCN2A, SCN8A, SCO1, ST3GAL3, ST3GAL5, SLC25A1, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1 , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics (Finland).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %

We have -4 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 Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THIOPURINES, POOR METABOLISM OF, 1; THPM1 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS; SSOAOD HYPOTRICHOSIS 6; HYPT6 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 CHROMOSOME 3q29 DELETION SYNDROME FEBRILE SEIZURES, FAMILIAL, 11; FEB11 PAROXYSMAL EXTREME PAIN DISORDER

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