自閉症スペクトラム
Autism spectrum disorders are among the most highly heritable psychiatric disorders and display high levels of phenotypic variability. Disorders on the Autism spectrum have high levels of genetic heterogeneity and result from multiple genetic pathways including single gene mutation disorders (such as Fragile X Syndrome), regional and submicroscopic variations in the number of gene copies (either heritable or de novo), rare and common genetic variants, and chromosomal aberrations.