Usher syndrome type IG

Introduction

Profound congenital deafness, onset of retinitis pigmentosa by age 10 in type I. Types II & III less severe.

Genetics

• autosomal recessive
• caused by defects in the USH1G gene

More general terms

• Usher syndrome type I

Additional terms

• Usher syndrome type-1G protein; scaffold protein containing ankyrin repeats & SAM domain (USH1G, SANS)

Database

• OMIM: https://mirror.omim.org/entry/606943
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=124590