Heterozygous mutations in the MED13 gene (17q23) are associated to the autosomal dominant intellectual developmental disorder-61 (MRD61).
This syndromic condition is characterized by global developmental delay in infancy and/or intellectual disability, mainly affecting language development.
Additional features are highly variable and may include nonspecific dysmorphic features, autism spectrum disorder, attention deficit/hyperactivity disorder, congenital cardiac defects, ophthalmological defect and epilepsy.
MED13