The participant was born full-term. During pregnancy, doctors noticed that she had a small head size (microcephaly), poor growth (IUGR), and some skeletal anomalies on an ultrasound. After birth, she had trouble feeding and delayed motor skills. About a month after birth, she had multiple long bone fractures. She was … read more
The participant was born at 38 weeks. During the pregnancy, there was less amniotic fluid than normal (oligohydramnios). Around 8 months old, the participant’s parents noticed delays in her development and that she would fall over frequently. Since then, she has made slow developmental progress. At 10 months old, the … read more
The participant experienced early gross motor developmental delays. During her first two years of life, she had language delays and low muscle tone (hypotonia). She sat at 12 months and walked at 24 months. She began to experience severe epileptic encephalopathy starting at age 3. Specifically, the participant experiences multiple … read more
