Usher syndrome type 1C

MONDO:0010171

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.

Also known as: USH1C, Usher syndrome type 1C, USHER syndrome, type IC, Usher syndrome, Acadian variety, Usher syndrome, type 1C, Usher syndrome, type I, Acadian variety

1 clinical trial for this condition and its sub-types, 1 tagged with Usher syndrome type 1C itself.

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↑ Usher syndrome type 1 (3)

Including sub-types (1) Tagged with Usher syndrome type 1C (1)

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Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Usher syndrome type 1C

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth