IMPE Abstracts

Wiedemann-Steiner Syndrome (WDSTS) is an autosomal dominant disorder with a broad and variable spectrum, characterized by intellectual disability (ID), prenatal and postnatal growth retardation, hypertrichosis, characteristic facial features, behavioral problems, and congenital anomalies involving different systems. A total of three patients were diagnosed with novel pathogenic mutations in the KMT2A gene in our hospital. Our first patient was a 15-month-old girl found by Trio...