HECW2 gene related symptoms and diseases

All the information presented here about the HECW2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HECW2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Bulbous nose Very Common - Between 80% and 100% cases
Osteopenia Very Common - Between 80% and 100% cases
EEG abnormality Very Common - Between 80% and 100% cases
Deeply set eye Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with HECW2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Telecanthus
  • Autistic behavior
  • Wide mouth
  • Abnormality of the cerebral white matter
  • Thick eyebrow
  • Prominent forehead
  • Dyskinesia
  • High, narrow palate

And 28 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HECW2 gene

Here you will find a list of rare diseases related to the HECW2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL


Most common symptoms of NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus


More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

SOURCES: OMIM


Potential gene panels for HECW2 gene

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

HECW2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HECW2 gene.

More info about this panel

Epileptic Encephalopathy Panel Panel

Finland.

By Blueprint Genetics Epileptic Encephalopathy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 ST3GAL3 ST3GAL5 SLC25A1 SLC2A1 SLC35A2

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel


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