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.

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.

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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


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


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