Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
Definition
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.
Also known as autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C, intellectual disability, autosomal dominant 20, intellectual disability, autosomal dominant type 20, MEF2C autosomal dominant non-syndromic intellectual disability, MEF2C Deficiency, MEF2C haploinsufficiency syndrome (MCHS), MEF2C-related neurodevelopmental disorder, MEF2C-related syndrome, mental retardation, autosomal dominant 20, mental retardation, autosomal dominant type 20, MRD20, neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language — per MONDO