Usher syndrome type 1
MONDO:0010168Also known as: USH1, Usher syndrome type 1, Usher syndrome, type 1, retinitis pigmentosa and congenital deafness, USH1A
- MONDO:
- MONDO:0010168
- Orphanet:
- 231169 ↗
Rare disease91 associated genes
Description
A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.
Associated genes
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