Parents

This disorder is caused by a damaging change to the gene MYH10. There are many issues that have been associated with the MYH10-related disorder including delays in attaining developmental milestones, learning challenges, intellectual disability, and autism spectrum disorder. Individuals may also be affected by differences in how organs develop in utero and may be born with structural changes to the brain, heart, and many other organ systems. Some individuals identified with this disorder have isolated issues with learning and development ranging from mild to severe and others may also organ differences that can affect many tissues in the body including the heart, brain, skeleton, kidneys, genitals, eyes, and lungs. Some individuals have also been identified to have eye issues alone without impacts on learning and development.

The MYH10-related disorder is inherited in an autosomal dominant fashion meaning that an affected individual would have a 50% change of passing this change to a child. Most changes that have been identified are de novo, or new in the child and not inherited from a parent.