Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations

Definition:

Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME) is a disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Most of the patients presented also with facial dysmorphic features, epilepsy and cerebral malformations. It has been suggested that haploinsufficiency of MEF2C is responsible for MRSME.

References:

[1]. N Le Meur, et al. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. J Med Genet. 2010 Jan;47(1):22-9. [Content Brief]

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