“Solving medical mysteries through team science“

Hosted by the Undiagnosed Disease Network (UDN)

Hear about the diagnostic journeys of two cases from their medical teams:

• 2-year-old female with a history of dysmorphic features, significant developmental delay with global hypotonia, generalized polymicrogyria, epilepsy, and GT dependence with deep intronic variants in POLR3A
• Unsolved case: 26-year-old female with a history of ataxia and significant cognitive decline with unusual brain MRI findings

For inquiries contact undiagnosed@wustl.edu.