Wiedemann-Steiner Syndrome

About the Disease
Wiedemann-Steiner Syndrome, also known as wdsts, is related to hypertrichosis and kabuki syndrome 1. An important gene associated with Wiedemann-Steiner Syndrome is KMT2A (Lysine Methyltransferase 2A), and among its related pathways/superpathways are DNA IR-double strand breaks and cellular response via ATM and Chromatin Regulation / Acetylation. Affiliated tissues include eye and bone, and related phenotypes are delayed speech and language development and dysphagia

Common Targets
KMT2A

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