Severe pleiotropic disorder forms two specific phenotypes which are unrelated to genotype

Takeaway

  • Deficiency of the mitogen-activated protein kinase-activating death domain protein (MADD), due to biallelic variants of the MADD gene, results in a neurodevelopmental disorder with and without multisystem organ defects.

Why this matters

    Understanding the underlying mechanisms of MADD deficiency can lead to the identification of specific targets for future therapies.