Usher syndrome type 1D

MONDO:0010984

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.

Also known as: USH1D, Usher syndrome, type 1D/F digenic, USHER syndrome, type ID, Ush1D/F, Cdh23/Pcdh15, digenic, Usher syndrome, type 1D, Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic

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

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Where it sits in the disease tree

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

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth