Researchers link rare genetic disorder to gene RNU4-2, affecting 1:20,000 young people with intellectual disability, short stature, small heads, seizures, and low muscle mass.

Researchers at the Icahn School of Medicine at Mount Sinai discovered a rare genetic disorder linked to a single gene, RNU4-2, causing intellectual disability affecting around one in 20,000 young people. The condition is also associated with short stature, small heads, seizures, and low muscle mass. This discovery could lead to new diagnoses, offering answers to families affected by the disorder.