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Key Clinical Message  Nicolaides–Baraitser syndrome ( NCBRS ) is a rare genetic condition associated with   SMARCA 2  gene mutations. Clinical diagnosis is challenging as its features evolve with time. The 20 years follow‐up of our  NCBRS  patient, with a previously unreported   SMARCA 2  mutation, illustrates the syndrome's natural history and its clinical variability, especially in a milder form.

The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up