MED13L Syndrome

Summarized by Plex Health
Last Updated: 03 May 2022

MED13L syndrome is a developmental disorder characterized by developmental hold-up, intellectual special needs, and small differences in facial features. Intellectual impairment and developing hold-up are usually modest to extreme in people with MED13L syndrome. People with MED13L syndrome might exhibit features regular of autism spectrum disorder, including repeated habits and trouble with social communications. Different genetic heart defects can occur in MED13L syndrome. Affected individuals may have transposition of the excellent arteries, which is abnormal positioning of the large blood vessel that disperses blood from the heart to the remainder of the body and the artery that carries blood from the heart to the lungs. Other congenital heart issues in MED13L syndrome consist of an opening in between both lower chambers of the heart, an opening between the 2 top chambers of the heart, or a certain combination of heart flaws recognized as tetralogy of Fallot.

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