DPF2 gene related symptoms and diseases
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: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DPF2 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Strabismus | Very Common - Between 80% and 100% cases |
Wide mouth | Very Common - Between 80% and 100% cases |
Thick eyebrow | Very Common - Between 80% and 100% cases |
Wide nasal bridge | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DPF2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Depressed nasal bridge
- Coarse facial features
- Feeding difficulties in infancy
- Hearing impairment
- Global developmental delay
Not very common - Between 30% and 50% cases
- Feeding difficulties
- Abnormality of the skeletal system
- Downslanted palpebral fissures
And 72 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DPF2 gene
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
Alternate names
COFFIN-SIRIS SYNDROME Is also known as css
Description
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.
Most common symptoms of COFFIN-SIRIS SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about COFFIN-SIRIS SYNDROME
SOURCES: ORPHANET
COFFIN-SIRIS SYNDROME 7; CSS7
Description
Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).
Most common symptoms of COFFIN-SIRIS SYNDROME 7; CSS7
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Hypertelorism
More info about COFFIN-SIRIS SYNDROME 7; CSS7
SOURCES: OMIM
Search interest in DPF2
Potential gene panels for DPF2 gene
DPF2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DPF2 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MCEE GHRL HNMT KIDINS220 AKT2 ARNT2 KCND3