MRPS2 gene related symptoms and diseases

All the information presented here about the MRPS2 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.

Top 5 symptoms and clinical features associated to MRPS2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Hearing impairment Very Common - Between 80% and 100% cases
Strabismus Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MRPS2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Sensorineural hearing impairment
  • Low-set ears
  • Delayed speech and language development
  • Headache
  • Upslanted palpebral fissure
  • Hypoglycemia
  • Poor speech
  • Aciduria

And 2 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MRPS2 gene

Here you will find a list of rare diseases related to the MRPS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36


Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Strabismus


More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36

SOURCES: OMIM


Potential gene panels for MRPS2 gene

MRPS2 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MRPS2 gene.

More info about this panel

MRPS2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MRPS2 gene.

More info about this panel

MRPS2 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MRPS2 gene.

More info about this panel

MRPS2 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MRPS2 gene.

More info about this panel

MRPS2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MRPS2 gene.

More info about this panel


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