MED13L syndrome is a developmental disorder characterized by developmental delay, intellectual disability, and minor differences in facial features. Explore symptoms, inheritance, genetics of this condition.

MED13L syndrome is a complex developmental disorder with a spectrum of symptoms including developmental delays, intellectual disability, and distinct facial features. It often involves challenges with muscle tone, motor skills, speech, social interaction, autism, behavior concerns, seizures, or congenital heart defects.

med13l.org: Empowering families and funding research on MED13L syndrome. Get involved with community support and educational resources. We strive to spread awareness, provide family support, and advance medical research in search of a cure for MED13L syndrome.

MED13L-related syndrome happens when there are changes in the MED13L gene. These changes can keep the gene from working as it should. MED13L plays a key role in the growth of the brain and heart. Because the MED13L gene is important for brain activity, many people who have MED13L-related syndrome have: What causes MED13L-related syndrome?

2024年12月25日 · MED13L (Mediator Complex Subunit 13L) is a Protein Coding gene. Diseases associated with MED13L include Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects and Developmental Delay-Facial Dysmorphism Syndrome Due To Med13l Deficiency.

MED13L syndrome is a rare genetic condition resulting from mutations or variants in the MED13L gene. It is characterized by intellectual disabilities and a range of developmental challenges. How is MED13L syndrome diagnosed?

MED13L syndrome is a rare disorder that occurs in an estimated 1.6 per 100,000 newborns. More than 65 affected individuals have been reported in the scientific literature. As its name suggests, MED13L syndrome is caused by mutations in a gene known as MED13L.

What is MED13L syndrome? MED13L syndrome is an increasingly recognised disorder associated with developmental delay; a speech delay, which is often significant; and distinctive facial features. Other features can include heart problems, feeding difficulties and additional medical concerns. What causes MED13L syndrome?

The MED13L gene provides instructions for making a protein that is one piece (subunit) of a group of proteins known as the mediator complex. Learn about this gene and related health conditions.

2015年3月11日 · Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such...