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Usher syndrome type 2C
rareA 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.
- Identifiers
- MONDO:0011558 OMIM:605472
- Part of
- Usher syndrome type 2
- Also known as
- USH2C · Usher syndrome, type 2C · Usher syndrome, type 2C, autosomal recessive, digenic dominant · Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant · USHER syndrome, type IIC
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