Usher syndrome type 2C

MONDO:0011558

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, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant, Usher syndrome, type 2C, autosomal recessive, digenic dominant, Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant, USHER syndrome, type IIC, Usher syndrome, type 2C, Usher syndrome, type IIb, Usher syndrome, type IIb, formerly

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