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Usher syndrome type 1F

MONDO:0011186

A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner.

Also known as: USH1F, Usher syndrome type 1F, USHER syndrome, type IF, Usher syndrome, type 1F

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Usher syndrome (12) Autosomal recessive disease (4) Disease of genetic or genomic mechanism (2) Autosomal genetic disease (0) Disease by body system or component (0) Disease by etiologic mechanism (0)

Not yet finished but already full! 1

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