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.
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
Search interest in DDX11
Potential gene panels for DDX11 gene
Warsaw breakage syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the DDX11 gene.
More info about this panelDDX11 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DDX11 gene.
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