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.
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
Search interest in MRPS2
Potential gene panels for MRPS2 gene
MRPS2 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MRPS2 gene.
More info about this panelMRPS2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MRPS2 gene.
More info about this panelMRPS2 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MRPS2 gene.
More info about this panelMRPS2 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the MRPS2 gene.
More info about this panelMRPS2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MRPS2 gene.
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