Usher syndrome type 1E

Definition

A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner.

Also known as USH1E — per MONDO

Also identified as

• DOID 0110833 per MONDO
• OMIM 602097 per MONDO
• UMLS C1865865 per MONDO