Abstract:Introduction.Wiedemann-Steiner syndrome is caused by mutations in the KMT2A gene (11q23.3). It might be inherited autosomal dominant or appear de novo. Features described in the syndrome include developmental delay, short stature, hypotonia, hypertrichosis, facial dysmorphic features, and intellectual disability. Case Report. A boy aged 5.5 months was admitted to the Genetics Outpatient Clinic due to delayed psychomotor development. Microsomia, hypotonia, joint laxity, and facial dysmorphic features were notic… Show more
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