The participant was born at full-term after a pregnancy complicated by maternal hypertension and gestational diabetes. During the first few days of life, the participant was noted to have jaundice, a heart murmur, and a heart defect known as a ventricular septal defect (VSD). At 6 months of age, he … read more
At approximately 1-2 months of age, the participant showed signs of slow growth and was diagnosed with developmental delay as well as low muscle tone (muscular hypotonia). The participant has since been identified to have absent speech, moderate intellectual disability, and uncoordinated walking (gait ataxia). He was recently identified to … read more
The participant’s parents first noticed that the participant was not meeting her developmental milestones at 9 months. At 11 months, she started having seizures (infantile spasms). An MRI at 11 months was normal; however, she had an abnormal EEG (hypsarrhythmia) that was consistent with epileptic encephalopathy. Despite medications, her seizures … read more
