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.
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
Search interest in HECW2
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 United States.
HECW2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HECW2 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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