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

MONDO:0013266

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

29 clinical trials for this condition and its sub-types.

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