Usher syndrome type 1D

Definition

A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.

Also known as USH1D, Usher syndrome, type 1D/F digenic — per MONDO

Also identified as

• DOID 0110831 per MONDO
• OMIM 601067 per MONDO
• UMLS C1832845 per MONDO