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.
MONDO:0015802
autosomal dominant non-syndromic intellectual disability
is_a
MEF2C Deficiency
exact
MEF2C autosomal dominant non-syndromic intellectual disability
exact
MEF2C haploinsufficiency syndrome (MCHS)
exact
MEF2C-related neurodevelopmental disorder
exact
MEF2C-related syndrome
exact
MRD20
exact
autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C
exact
intellectual disability, autosomal dominant 20
exact
intellectual disability, autosomal dominant type 20
exact
mental retardation, autosomal dominant 20
exact
mental retardation, autosomal dominant type 20
exact
mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
related
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
exact
SPAC11E3.06 SPBC19G7.06