1. Mendelian
  2. Rare Disease Genes
  3. ELP2

ELP2 gene related symptoms and diseases

All the information presented here about the ELP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to ELP2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Choreoathetosis Very Common - Between 80% and 100% cases
Progressive spasticity Very Common - Between 80% and 100% cases
Spastic diplegia Very Common - Between 80% and 100% cases
Impulsivity Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ELP2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Self-injurious behavior
  • Poor head control
  • Stereotypy
  • Lower limb spasticity
  • Muscular hypotonia of the trunk
  • Global developmental delay
  • Aggressive behavior
  • Absent speech

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ELP2 gene

Here you will find a list of rare diseases related to the ELP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

Most common symptoms of MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Spasticity


More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

SOURCES: OMIM


Potential gene panels for ELP2 gene

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C

More info about this panel
United States.

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

ELP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ELP2 gene.

More info about this panel
United States.

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel
United States.

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