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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

5 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Developmental defect during embryogenesis (7) Disease of genetic or genomic mechanism (2) Multiple congenital anomalies/dysmorphic syndrome (1) Waardenburg syndrome (1) Waardenburg syndrome type 2 (1) Autosomal dominant disease (0)
Trials to join now! 2 Not yet finished but already full! 1 Completed 2
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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

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