Usher syndrome type IIC

Pathology: 1) retinitis pigmentosa 2) sensorineural deafness Genetics: 1) autosomal recessive 2) associated with defects in MASS1 gene Clinical manifestations: 1) moderate to severe deafness 2) no vestibular dysfunction

Database Correlations

OMIM 605472 Entrez Gene 56830

References

Eudy et al. Science 280:1753-7, 1998