Intellectual Developmental Disorder, Autosomal Dominant 48 (MRD48)

Intellectual Developmental Disorder, Autosomal Dominant 48, also known as autosomal dominant intellectual developmental disorder 48, is related to isolated complex i deficiency and cri-du-chat syndrome. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 48 is RAC1 (Rac Family Small GTPase 1), and among its related pathways/superpathways are Complex I biogenesis and Cargo trafficking to the periciliary membrane. Related phenotypes are intellectual disability and hypoplasia of the corpus callosum