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.

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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.


SUBCORTICAL BAND HETEROTOPIA


Alternate names

SUBCORTICAL BAND HETEROTOPIA Is also known as subcortical laminar heterotopia


More info about SUBCORTICAL BAND HETEROTOPIA

SOURCES: ORPHANET

BAND HETEROTOPIA; BH


Most common symptoms of BAND HETEROTOPIA; BH

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


More info about BAND HETEROTOPIA; BH

SOURCES: MESH OMIM


Potential gene panels for EML1 gene

Hydrocephalus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hydrocephalus Sequencing Panel with CNV Detection that also includes the following genes: ZIC3 HDAC6 CCND2 CRB2 CCDC88C FLVCR2 WDR81 DNAI1 EML1 AKT3

More info about this panel

EML1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EML1 gene.

More info about this panel


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