Reported today (11th October) in Nature Communications, the study is a step towards providing explanations for additional families with children with undiagnosed neurodevelopmental disorders.
Every year in the UK, thousands of babies are born with errors in their DNA that mean they do not develop normally. These genetic changes, or mutations, can lead to conditions such as intellectual disability, epilepsy, autism or heart defects. There are over 1,000 recognised genetic causes, however many individual developmental disorders are so rare that the genetic causes are not known.
