TCF7L2-related neurodevelopmental disorder (TRND) is a rare neurodevelopmental condition caused by heterozygous pathogenic variants in TCF7L2. It is characterized by early developmental delay and variable neurobehavioral features. The reported clinical spectrum includes mild intellectual disability, motor delay, autism-like features, and attention-deficit/hyperactivity disorder (ADHD). Myopia and variable dysmorphic physical features may occur. The clinical presentation is highly heterogeneous, and not all affected individuals exhibit all reported features. Due to the recent identification of this disorder and the limited number of described cases, its prevalence and full phenotypic spectrum remain unknown.
TCF7L2