Solving Medical Mysteries
Through Team Science

Participant 154

Male, age 8, with global developmental day, autism, and uncoordinated walking (gait ataxia) caused by a change in the MTSS2 gene

Participant 153

Male, age 24, with seizures, skeletal differences (Madelung deformity, scoliosis, pectus excavatum, club foot), and global developmental delay caused by a variant in RNF13.

Participant 152

Female, age 3, with facial differences, heart abnormalities (hypoplastic left heart syndrome, mitral regurgitation, aortic insufficiency), kidney abnormalities (vesicoureteral reflux, hydronephrosis, medullary nephrocalcinosis) and global developmental delay.

Participant 151

Male, age 15, with plastic bronchitis, recurrent pneumonia and ear infections (otitis media).

Participant 150

Female, age 7, with respiratory failure, feeding difficulties and global developmental delay caused by changes in the TBCK gene

Participant 149

Male, age 2, with seizures, absent speech, failure to thrive, and small head size (acquired microcephaly)

Participant 148

Female, age 6, with developmental delay, problems with coordination (ataxia), difficulty speaking (dysarthria), and tremor

Participant 147

Male, age 16, with Au-Kline syndrome caused by a change in the HNRNPK gene

Participant 146

Participant 145

Female, age 29, with difficulty controlling muscle movements (ataxia), difficulty speaking (dysarthria), muscle spasms, and visual loss