EML1 gene related symptoms and diseases

All the information presented here about the EML1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EML1 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Uncommon - Between 30% and 50% cases
Seizures	Uncommon - Between 30% and 50% cases
Global developmental delay	Uncommon - Between 30% and 50% cases
Generalized hypotonia	Uncommon - Between 30% and 50% cases
Spasticity	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with EML1 gene alterations may also develop some of the following symptoms and phenotypes:

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

• Macrocephaly
• Abnormality of the skeletal system
• Ventriculomegaly
• Hydrocephalus
• Intellectual disability, severe
• Behavioral abnormality
• Agenesis of corpus callosum
• Polymicrogyria

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to EML1 gene

Here you will find a list of rare diseases related to the EML1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

Search interest in EML1

Potential gene panels for EML1 gene

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