Usher syndrome type 2C
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.
MONDO:0016484
Usher syndrome type 2
is_a
USH2C
exact
USHER syndrome, type IIC
related
Usher syndrome, type 2C
related
Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant
exact
Usher syndrome, type 2C, autosomal recessive, digenic dominant
exact
Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant
exact