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Waardenburg syndrome type 2A

MONDO:0008671

Waardenburg syndrome Type 2 caused by mutations in the MITF gene.

Also known as: MITF Waardenburg syndrome type 2, WS2A, Waardenburg syndrome type 2 caused by mutation in MITF, Waardenburg syndrome type 2A, Waardenburg syndrome type IIA, Waardenburg syndrome without dystopia canthorum, Waardenburg syndrome, type 2A, Ws2

1 clinical trial for this condition and its sub-types, 1 tagged with Waardenburg syndrome type 2A itself.

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↑ Waardenburg syndrome type 2 (1)

Including sub-types (1) Tagged with Waardenburg syndrome type 2A (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

Waardenburg syndrome type 2A

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth