Review of the reported patients with med13l haploinsufficiency indicates moderate to severe id and facial anomalies in all patients, as well as severe speech delay and muscular. (gln1981*) in the med13l gene with severe intellectual disability and facial dysmorphism. In this work, we report a patient with a novel de novo likely pathogenic variant c.5941c>t, p.
(PDF) Redefining the MED13L syndrome Bertrand Isidor Academia.edu
Med13l syndrome is a rare disorder that occurs in an estimated 1.6 per 100,000 newborns.
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. Med13l syndrome is a rare genetic condition resulting from mutations or variants in the med13l gene. We thereby define a novel syndrome and significantly broaden the clinical spectrum associated with med13l variants. More than 65 affected individuals have been reported in the scientific literature.
Med13l haploinsufficiency syndrome has been described in two patients and is characterized by moderate intellectual disability (id), conotruncal heart defects, facial abnormalities and. Med13l haploinsufficiency syndrome is a clinical condition manifesting intellectual disability and developmental delay in association with various complications including congenital heart. Learn more about med13l and connect with other simons searchlight families with the resources on this. A variant in the gene can affect children in different ways.
It is characterized by intellectual disabilities and a range of developmental challenges.
