Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a remarkably complex architecture that embraces genetic mutations of distinct types (chromosomal rearrangements, copy number variants, small indels, and nucleotide substitutions) with distinct frequencies in the population (common, rare, de novo). Such a network of interacting players creates difficulties in establishing rigorous genotype-phenotype correlations. Furthermore, individual lifestyles may also contribute to the severity of the symptoms fueling a large spectrum of gene-environment interactions that have a key role on the relationships between genotypes and phenotypes.Herein, a review of the genetic discoveries related to NDDs is presented with the aim to provide useful general information for the medical community.

中文翻译：

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神经发育障碍的基本遗传发现。

在现代社会中，神经发育障碍（NDD）代表着日益严峻的医学挑战。不断增长的复杂诊断工具不断揭示出一种非常复杂的体系结构，该体系结构包含不同类型（染色体重排，拷贝数变异，小插入缺失和核苷酸取代）的不同类型的基因突变，且在人群中具有不同的频率（常见，罕见，从头开始） 。这种相互作用的参与者网络在建立严格的基因型-表型相关性方面造成困难。此外，个人的生活方式也可能加剧症状的严重性，加剧了广泛的基因-环境相互作用，这些相互作用对基因型和表型之间的关系至关重要。