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.
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
Search interest in NXN
Potential gene panels for NXN gene
Robinow syndrome Comprehensive panel Panel
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 panelRobinow syndrome Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Robinow syndrome Deletion / Duplication panel that also includes the following genes: ROR2 WNT5A NXN DVL1 DVL3 FZD2
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