The participant was born prematurely at 27 weeks and experienced many complications early in life. He currently has seizures, low muscle tone (generalized hypotonia, facial hypotonia), and severe global developmental delay. These symptoms are not believed to be caused by his premature birth. The participant also has distinct facial features, … read more
The participant was noticed to have developmental delays early in life. She also began to have seizures around age 6. At age 12, she started to have involuntary muscle contractions (dystonia). She developed difficulty speaking (dysarthria) as well, but this has since improved. In addition to these symptoms, the participant … read more
Starting in early childhood, the participant experienced chronic diarrhea with excess fat in his stool (steatorrhea), fragile and sagging skin (cutis laxa), and poor wound healing. At 11 years old, a heart murmur was detected. Later in life, the participant was diagnosed with atrial fibrillation and heart muscle disease (cardiomyopathy). … read more
