Usher syndrome type 2C

Definition

A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner.

Also known as USH2C, Usher syndrome, type 2C, autosomal recessive, digenic dominant, Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant, Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant — per MONDO

Also identified as

• DOID 0110839 per MONDO
• MESH C536492 per MONDO
• NCIT C153174 per MONDO
• OMIM 605472 per MONDO
• UMLS C2931213 per MONDO