Article
Expansion of the Phenotypic and Genotypic Spectrum of MED13L-Associated Neurodevelopmental Disorder: A Case Report and Literature Review.
Molecular genetics & genomic medicine - 1 Jul 2026
Wang Zhongqing, Chen Xin, Cui Ziyun, Qi Xinyue, Gu Li, Liu Yi, Zhao Wenjing, Jiang Yan
Abstract excerpt
BACKGROUND: Pathogenic variants in MED13L, including copy-number changes and sequence variants, cause MED13L syndrome. This rare neurodevelopmental disorder is characterized by global developmental delay, intellectual disability (ID), distinctive facial dysmorphism, hypotonia, and variable congenital heart defects. The phenotypic heterogeneity of MED13L syndrome underscores the significance of genotype-phenotype...
Topics
- Humans
- Phenotype
- Mediator Complex
- DNA Copy Number Variations
- Female
- Male
- Neurodevelopmental Disorders
- Heart Defects, Congenital
- Intellectual Disability
- Child, Preschool