DDX11 gene related symptoms and diseases

All the information presented here about the DDX11 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DDX11 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Bilateral sensorineural hearing impairment Very Common - Between 80% and 100% cases
Coloboma Very Common - Between 80% and 100% cases
Smooth philtrum Very Common - Between 80% and 100% cases
Abnormality of skin pigmentation Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DDX11 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Single transverse palmar crease
  • Tetralogy of Fallot
  • Sloping forehead
  • Cupped ear
  • Postnatal growth retardation
  • Cutis marmorata
  • 2-3 toe syndactyly
  • Chromosome breakage

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DDX11 gene

Here you will find a list of rare diseases related to the DDX11. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


WARSAW BREAKAGE SYNDROME


Alternate names

WARSAW BREAKAGE SYNDROME Is also known as wabs

Description

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

Most common symptoms of WARSAW BREAKAGE SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


More info about WARSAW BREAKAGE SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for DDX11 gene

Warsaw breakage syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DDX11 gene.

More info about this panel

DDX11 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DDX11 gene.

More info about this panel


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