MIR548F1 gene related symptoms and diseases
All the information presented here about the MIR548F1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MIR548F1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Very Common - Between 80% and 100% cases |
| Sensorineural hearing impairment | Very Common - Between 80% and 100% cases |
| Motor delay | Very Common - Between 80% and 100% cases |
| Rod-cone dystrophy | Very Common - Between 80% and 100% cases |
| Retinopathy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MIR548F1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Pigmentary retinopathy
- Congenital sensorineural hearing impairment
- Vestibular dysfunction
Rare diseases associated to MIR548F1 gene
Here you will find a list of rare diseases related to the MIR548F1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
USHER SYNDROME, TYPE IF; USH1F
Description
Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Phenotypic distinctions are based on auditory and vestibular differences. Persons with forms of Usher syndrome type I (OMIM ) have congenital severe to profound hearing loss and vestibular dysfunction.
Most common symptoms of USHER SYNDROME, TYPE IF; USH1F
- Hearing impairment
- Sensorineural hearing impairment
- Motor delay
- Rod-cone dystrophy
- Retinopathy
More info about USHER SYNDROME, TYPE IF; USH1F
SOURCES: OMIM
Search interest in MIR548F1
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRKRA EFTUD2 TCHH RHBDF2 KCNQ3 TBXT TCF7L2