/autosomal dominant non-syndromic intellectual disability

/neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

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

Rare Disease

MONDO:0013266

Also Known As

MEF2C DeficiencyMEF2C autosomal dominant non-syndromic intellectual disabilityMEF2C haploinsufficiency syndrome (MCHS)MEF2C-related neurodevelopmental disorderMEF2C-related syndromeMRD20autosomal dominant mental retardation 20autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2Cintellectual disability, autosomal dominant 20intellectual disability, autosomal dominant type 20mental retardation, autosomal dominant 20mental retardation, autosomal dominant type 20neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageintellectual disability, stereotypic movements, epilepsy, and/or cerebral malformationsmental retardation, stereotypic movements, epilepsy, and/or cerebral malformations