ARCN1 gene related symptoms and diseases
All the information presented here about the ARCN1 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 ARCN1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Micropenis | Very Common - Between 80% and 100% cases |
| Obstructive sleep apnea | Very Common - Between 80% and 100% cases |
| Scaphocephaly | Very Common - Between 80% and 100% cases |
| 2-3 toe syndactyly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ARCN1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Metaphyseal widening
- Scrotal hypoplasia
- Accelerated skeletal maturation
- Coxa valga
- Rhizomelia
- Hypotelorism
- Astigmatism
- Retrognathia
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ARCN1 gene
Here you will find a list of rare diseases related to the ARCN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY; SRMMD
Most common symptoms of SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY; SRMMD
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY; SRMMD
SOURCES: OMIM
Search interest in ARCN1
Potential gene panels for ARCN1 gene
ARCN1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ARCN1 gene.
More info about this panel United States.
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