Abstract
Congenital anomalies (CA) and intellectual disability (ID) both comprise a heterogeneous spectrum of diseases. They affect about 3% of live birth worldwide. The causes of CA can be divided into genetic and nongenetic. About a quarter of CA has been estimated to have a genetic cause previously, with the two most common causes as single gene defects and chromosome abnormalities. ID has highly variable severity and frequently combines with multiple congenital anomalies (MCA). Exome sequencing (ES) is not only massive parallel but also high throughput sequencing.
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