Parents

Alterations in the gene DENND5A result in a neurodevelopmental disorder characterized by global developmental delay, seizures, brain malformations, muscle tone abnormalities, and small head .

Prevalence: The prevalence of DENND5A-linked developmental disease is not known.

Inheritance: Two copies of DENND5A alterations are required to result in disease. Two asymptomatic parents carrying a single DENND5A alteration have a 25% chance of having a child with DENND5A-related disease, a 50% chance of having a child that is a carrier for a DENND5A alteration, and a 25% chance of having a child with two healthy copies of DENND5A.

Age of onset: Infancy for more severe cases, childhood for milder cases.