/Usher syndrome type 1D

Usher syndrome type 1D

Rare Disease

MONDO:0010984

Also Known As

USH1DUsher syndrome type 1DUsher syndrome type IDUsher syndrome, type 1D/F digenicUSHER syndrome, type IDUsh1D/F, Cdh23/Pcdh15, digenicUsher syndrome, type 1DUsher syndrome, type Id/F, Cdh23/Pcdh15, digenic

Definition

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.