Usher syndrome type 1F

Definition

A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner.

Also known as USH1F, Usher syndrome type 1F — per MONDO

Also identified as

• DOID 0110832 per MONDO
• OMIM 602083 per MONDO
• UMLS C1865885 per MONDO