The participant was first noticed to have short stature when she was 6 years old. Around 7-8 years old, she was found to have an abnormal eye structure (abnormality of the cornea morphology and corneal endothelium), hearing impairment (sensorineural), and a hand tremor. Her hearing impairment and tremor have worsened … read more
The participant was born full-term after a normal pregnancy. She passed her newborn screening. She was healthy and developmentally on track until 2 months old. She began having generalized tonic-clonic seizures that were treated with levetiracetam. At this time, neurologic exams showed signs of rapid tongue movements (tongue fasciculations), increased … 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
