MEF2C haploinsufficiency has been described in the literature over the past decade, with the majority of patients harbouring 5q14.3 microdeletions (MIM# 613443, mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations) [1]. These patients typically present with severely impaired expressive language, gross motor delay and epilepsy.2 The phenotype may resemble Rett’s syndrome in some cases, with stereotypic behaviour, particularly hand flapping, but no microcephaly or neuroregression [3].

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