MEF2C Haploinsufficiency Syndrome

Official Community

The mutation or deletion of the MEF2C gene is the cause of a neuro-genetic disorder characterized by severe intellectual and developmental disability, mutations of this gene have resulted in severe psychomotor retardation, periodic tremor and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG, epilepsy, absence of speech, autistic behavior, bruxism, and mild dysmorphic features, mild thinning of the corpus callosum and delay of white matter myelination in the occipital lobes.