/Usher syndrome type 2C

Usher syndrome type 2C

Rare Disease

MONDO:0011558

Also Known As

USH2CUsher syndrome type IICUsher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominantUsher syndrome, type 2C, autosomal recessive, digenic dominantUsher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominantUSHER syndrome, type IICUsher syndrome, type 2CUsher syndrome, type IIbUsher syndrome, type IIb, formerlyUsher syndrome, type IIc, Gpr98/Pdzd7, digenic

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.