RPS23 gene related symptoms and diseases

All the information presented here about the RPS23 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RPS23 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Autism Very Common - Between 80% and 100% cases
Increased number of teeth Very Common - Between 80% and 100% cases
Flat occiput Very Common - Between 80% and 100% cases
Brittle hair Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with RPS23 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Long eyelashes
  • Bifid uvula
  • Single transverse palmar crease
  • Highly arched eyebrow
  • Thick eyebrow
  • Autistic behavior
  • Abnormality of the pinna
  • Conductive hearing impairment

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to RPS23 gene

Here you will find a list of rare diseases related to the RPS23. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


Alternate names

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome, mcins

Description

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

Most common symptoms of BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

SOURCES: OMIM


Potential gene panels for RPS23 gene

RPS23 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RPS23 gene.

More info about this panel


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