WWOX-AS1 gene related symptoms and diseases

All the information presented here about the WWOX-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to WWOX-AS1 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Muscular hypotonia of the trunk Very Common - Between 80% and 100% cases
Cortical gyral simplification Very Common - Between 80% and 100% cases
Abnormal electroretinogram Very Common - Between 80% and 100% cases
Progressive microcephaly Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with WWOX-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Generalized-onset seizure
  • Epileptic encephalopathy
  • Delayed myelination
  • Abnormal cerebellum morphology
  • Retinal degeneration
  • Rigidity
  • Global developmental delay
  • Encephalopathy

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to WWOX-AS1 gene

Here you will find a list of rare diseases related to the WWOX-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28


Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28

SOURCES: OMIM




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