1. Mendelian
  2. Rare Disease Genes
  3. DMXL2

DMXL2 gene related symptoms and diseases

All the information presented here about the DMXL2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to DMXL2 gene

Symptoms // Phenotype % Cases
Hearing impairment Common - Between 50% and 80% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Glucose intolerance Uncommon - Between 30% and 50% cases
Progressive hearing impairment Uncommon - Between 30% and 50% cases
Type I diabetes mellitus Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DMXL2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Polyneuropathy
  • Abnormal pyramidal sign
  • Postnatal growth retardation
  • Intellectual disability, moderate
  • Hypoglycemia
  • Hypothyroidism
  • Hypogonadism
  • Vestibular dysfunction

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to DMXL2 gene

Here you will find a list of rare diseases related to the DMXL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71

Most common symptoms of DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71

  • Hearing impairment
  • Vestibular dysfunction


More info about DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71

SOURCES: OMIM

POLYENDOCRINE-POLYNEUROPATHY SYNDROME

Most common symptoms of POLYENDOCRINE-POLYNEUROPATHY SYNDROME

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROME

SOURCES: ORPHANET OMIM

AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA

Alternate names

AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA Is also known as autosomal dominant non-syndromic sensorineural hearing loss type dfna, autosomal dominant isolated sensorineural deafness type dfna, autosomal dominant isolated sensorineural hearing loss type dfna, autosomal dominant isolated neurosensory deafness type dfna


More info about AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA

SOURCES: ORPHANET


Potential gene panels for DMXL2 gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel
United States.

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel
Germany.

DMXL2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DMXL2 gene.

More info about this panel
United States.

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