Usher syndrome type 1C

Definition

A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.

Also known as USH1C, Usher syndrome type 1C — per MONDO

Also identified as

• DOID 0110830 per MONDO
• OMIM 276904 per MONDO
• UMLS C1848604 per MONDO