Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.

Also known as: MEF2C Deficiency, MEF2C autosomal dominant non-syndromic intellectual disability, MEF2C haploinsufficiency syndrome (MCHS), MEF2C-related neurodevelopmental disorder, MEF2C-related syndrome, MRD20, autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C, intellectual disability, autosomal dominant 20

1 clinical trial for this condition and its sub-types, 1 tagged with Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language itself.