retinitis pigmentosa-deafness syndrome
MONDO:0010775Mondo
Findings
No curated finding names retinitis pigmentosa-deafness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.
Definition from the Mondo Disease Ontology (MONDO:0010775), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of