RPL35 gene related symptoms and diseases
All the information presented here about the RPL35 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RPL35 gene
Symptoms // Phenotype | % Cases |
---|---|
Short stature | Very Common - Between 80% and 100% cases |
Abnormality of the urinary system | Very Common - Between 80% and 100% cases |
Tetralogy of Fallot | Very Common - Between 80% and 100% cases |
Mitral valve prolapse | Very Common - Between 80% and 100% cases |
Ventricular hypertrophy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RPL35 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Thick lower lip vermilion
- Depressed nasal ridge
- Mitral regurgitation
- Abnormality of the genital system
- Short thumb
- Melanoma
- Abnormality of the hand
- Bifid uvula
And 34 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RPL35 gene
Here you will find a list of rare diseases related to the RPL35. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BLACKFAN-DIAMOND ANEMIA
Alternate names
BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type, congenital pure red cell aplasia, aase-smith syndrome ii, congenital prca, aase-smith ii syndrome, aase syndrome
Description
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.
Most common symptoms of BLACKFAN-DIAMOND ANEMIA
- Short stature
- Growth delay
- Hypertelorism
- Neoplasm
- Failure to thrive
More info about BLACKFAN-DIAMOND ANEMIA
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