NXN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to NXN gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Gingival overgrowth Very Common - Between 80% and 100% cases
Disproportionate short-limb short stature Very Common - Between 80% and 100% cases
Tented upper lip vermilion Very Common - Between 80% and 100% cases
Sacral dimple Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Abnormal palate morphology
  • Sandal gap
  • Multicystic kidney dysplasia
  • Bilateral single transverse palmar creases
  • Long eyelashes
  • Chronic otitis media
  • Broad thumb
  • Split hand

And 66 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to NXN gene

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


AUTOSOMAL RECESSIVE ROBINOW SYNDROME


Alternate names

AUTOSOMAL RECESSIVE ROBINOW SYNDROME Is also known as covesdem syndrome, rrs, costovertebral segmentation defect-mesomelia syndrome

Description

Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.

Most common symptoms of AUTOSOMAL RECESSIVE ROBINOW SYNDROME

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


More info about AUTOSOMAL RECESSIVE ROBINOW SYNDROME

SOURCES: ORPHANET


Potential gene panels for NXN gene

Robinow syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Robinow syndrome Comprehensive panel that also includes the following genes: ROR2 WNT5A NXN DVL1 DVL3 FZD2

More info about this panel

Robinow syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Robinow syndrome Deletion / Duplication panel that also includes the following genes: ROR2 WNT5A NXN DVL1 DVL3 FZD2

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like GALNT3 MMP14 ISCA1 DGKE

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more