The participant was delivered via C-section at 35 weeks gestation. The pregnancy was complicated by persistent nausea and vomiting (hyperemesis gravidarum), as well as decreased fetal movements. In early infancy, she exhibited sweating with feeding which led to the detection of an irregular heartbeat (Wolff-Parkinson-White syndrome), which was treated with … read more
After birth, the patient was found to be in respiratory distress. He had low levels of red blood cells (anemia), yellowing of the skin (jaundice caused by hyperbilirubinemia), and heartburn (gastroesophageal reflux). This required hospitalization in the NICU for 72 days. Over time, the patient was noticed to have delayed … read more
The participant has experienced involuntary movements of his arms, legs, and face continuously since birth (choreoathetosis). He also has low muscle tone, underactive reflexes, and abnormal eye movements with episodes of eye rolling. He has brain disease with seizures (epileptic encephalopathy) and a recent MRI of his brain showed brain … read more
