Solving Medical Mysteries
Through Team Science

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

Participant 144

Female, age 3, with developmental delay, staring spells, low muscle tone (hypotonia), and uncontrolled eye movements (nystagmus)

Participant 143

Female, age 5, with brain abnormalities, flow of urine from bladder to kidneys (vesicoureteral reflux), global developmental delay and atrial septal defect caused by a change in CHASERR (previously known as LINC01578) causing suspected overexpression of CHD2

Participant 142

Female, age 1, with brain abnormalities (agenesis of the corpus callosum and arachnoid cyst) and chronic diarrhea caused by a change in the ARX gene (with severity impacted by her diagnosis of mosaic Turner syndrome)

Participant 141

Female, age 3, with Wieacker-Wolff syndrome

Participant 140

Male, age 12, with intellectual disability, seizures, brain abnormalities (ventriculomegaly, malrotation of bilateral hippocampi), and bulging, weakened wall of the aortic root (aortic root aneurysm)