3M syndrome is a rare autosomal recessive primordial growth disorder that manifests as severe pre‐ and post‐natal growth retardation, typical facial dysmorphism and skeletal anomalies. Mutations in ...

A newly identified neurodevelopmental disorder may explain tens of thousands of cases of intellectual disability whose cause was previously unknown, according to a new study. The research, published ...

Researchers have found that motor delay and low muscle tone were common signs of an underlying genetic diagnosis in children with neurodevelopment disorders. In a new study, UCLA Health researchers ...

The gene-editing technique known as CRISPR is promising to revolutionize medicine. Some researchers are trying to help make it available for people with very rare genetic disorders. A gene-editing ...