Complex genotype-phenotype relationships in neurodevelopmental disorders.

Abstract excerpt

With the advent of sequencing technologies in recent years, hundreds of high-confidence risk genes have been implicated in neurodevelopmental disorders (NDDs). However, individuals carrying pathogenic variants in the same gene frequently exhibit diverse clinical presentations, including varied symptoms and diagnoses. We propose that this heterogeneity arises from different interacting factors that modulate the...

Topics

• Humans
• Neurodevelopmental Disorders
• Gene-Environment Interaction
• Genetic Predisposition to Disease
• Phenotype
• Genetic Association Studies