Solving Medical Mysteries
Through Team Science

Participant 003

Female, age 8, with hypotonia, delayed brain myelination, and developmental delays caused by a change in the CACNA1A gene (OMIM 617106) 

CNN Article

Participant 002

Female, age 2, with absent thyroid and inflammatory disease of the muscle (polymyositis)

Participant 001

Male, age 10, with a heart defect, skeletal anomalies, absent thymus, and other features of DiGeorge syndrome caused by a change in the TBX2 gene (OMIM 618223)