EDNRB-AS1 gene related symptoms and diseases
All the information presented here about the EDNRB-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Table of contents:
Top 5 symptoms and clinical features associated to EDNRB-AS1 gene
Symptoms // Phenotype | % Cases |
---|---|
Hearing impairment | Very Common - Between 80% and 100% cases |
Hypopigmentation of the skin | Very Common - Between 80% and 100% cases |
Aganglionic megacolon | Very Common - Between 80% and 100% cases |
Albinism | Very Common - Between 80% and 100% cases |
Large for gestational age | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with EDNRB-AS1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypopigmentation of the fundus
- Abnormal auditory evoked potentials
Rare diseases associated to EDNRB-AS1 gene
Here you will find a list of rare diseases related to the EDNRB-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ABCD SYNDROME; ABCDS
Alternate names
ABCD SYNDROME; ABCDS Is also known as albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
Most common symptoms of ABCD SYNDROME; ABCDS
- Hearing impairment
- Hypopigmentation of the skin
- Aganglionic megacolon
- Albinism
- Large for gestational age
More info about ABCD SYNDROME; ABCDS
Search interest in EDNRB-AS1
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