Usher syndrome type 1D
A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.
MONDO:0010168
Usher syndrome type 1
is_a
USH1D
exact
USHER syndrome, type ID
related
Usher syndrome, type 1D
related
Usher syndrome, type 1D/F digenic
exact