Heterozygous mutations in the MED13 gene (the presence of one normal allele and one mutated allele), located on chromosome 17, are associated to the so-called autosomal dominant intellectual developmental disorder-61 (MRD61).
This syndromic condition is characterized by a large spectrum of clinical characteristics, which mainly include global developmental delay in infancy and/or intellectual disability, mostly affecting language development. Additional features are highly variable and may include nonspecific dysmorphic features, autism spectrum disorder, attention deficit/hyperactivity disorder, congenital cardiac defects and epilepsy.
To date, the majority of reported cases are sporadic (i.e., occur as isolated cases in a family).
A single case of autosomal dominant inheritance is reported (mother to child transmission).
MED13