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.
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
Search interest in RPS23
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 United States.
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