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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends

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.

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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