CEBPD gene related symptoms and diseases
All the information presented here about the CEBPD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CEBPD gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Blurred vision | Very Common - Between 80% and 100% cases |
| Male hypogonadism | Very Common - Between 80% and 100% cases |
| Hiatus hernia | Very Common - Between 80% and 100% cases |
| Soft skin | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CEBPD gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Pulmonary artery stenosis
- Growth hormone excess
- Tracheomalacia
- Aortic root aneurysm
- Keratoconus
- Atrophic scars
- Impotence
- Adrenocorticotropic hormone deficiency
And 89 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CEBPD gene
Here you will find a list of rare diseases related to the CEBPD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ARTERIAL TORTUOSITY SYNDROME; ATS
Alternate names
ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity
Most common symptoms of ARTERIAL TORTUOSITY SYNDROME; ATS
- Intellectual disability
- Seizures
- Generalized hypotonia
- Scoliosis
- Hypertelorism
More info about ARTERIAL TORTUOSITY SYNDROME; ATS
SOURCES: OMIM
Search interest in CEBPD
Potential gene panels for CEBPD gene
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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