500
Participants
Start Date
July 7, 2025
Primary Completion Date
December 31, 2050
Study Completion Date
December 31, 2050
GEMIN5-Related Neurodevelopmental Disorder
This is an observational study. The investigators will collect data from participants' medical records regarding neurodevelopmental outcomes (eg. cognitive, speech and language, motor skills, developmental skills, vision, hearing), Time to event (Acquistion and loss of developmental milestones), and, if available, data regarding MRIs (presence of cerebellar atrophy), survival, visiion, hearing, and biomarkers of disease.
RECRUITING
Children's Hospital of Pittsburgh of UPMC, Pittsburgh
University of Pittsburgh
OTHER