/Usher syndrome type 1C

Usher syndrome type 1C

Rare Disease

MONDO:0010171

Also Known As

USH1CUsher syndrome type 1CUsher syndrome type I Acadian varietyUsher syndrome type ICUSHER syndrome, type ICUsher syndrome, Acadian varietyUsher syndrome, type 1CUsher syndrome, type I, Acadian variety

Definition

A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.