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YWHAG gene related symptoms and diseases

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

Table of contents:

Top 5 symptoms and clinical features associated to YWHAG gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Status epilepticus Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with YWHAG gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Absent speech
  • Encephalopathy
  • Muscular hypotonia of the trunk
  • Generalized tonic-clonic seizures
  • Abnormality of eye movement
  • Hypodontia
  • Hypertonia
  • Epileptic encephalopathy

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to YWHAG gene

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


EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56

Description

EIEE56 is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by intellectual disability, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56

SOURCES: OMIM

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Alternate names

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Most common symptoms of UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

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


More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

SOURCES: OMIM ORPHANET


Potential gene panels for YWHAG 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.

YWHAG Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the YWHAG gene.

More info about this panel
United States.

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