All the information presented here about the DPF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM.
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Elbow dislocation | Very Common - Between 80% and 100% cases |
Short distal phalanx of finger | Very Common - Between 80% and 100% cases |
Thick lower lip vermilion | Very Common - Between 80% and 100% cases |
Congenital diaphragmatic hernia | Very Common - Between 80% and 100% cases |
And 45 more phenotypes.
Here you will find a list of rare diseases related to the DPF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COFFIN-SIRIS SYNDROME Is also known as css
Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.
By Fulgent Genetics Fulgent Genetics in United States.
This panel specifically test the DPF2 gene.
More info about this panel