Male, age 4 with heart defects and a history of failure to thrive thought to be caused by a change in the PRDM16 gene
View Participant
Male, age 7, with global developmental delay, eye and vision abnormalities, and gastrointestinal dysmotility
View Participant
Female, age 3, with liver failure, recurrent respiratory infections, and ketotic hypoglycemia
View Participant
Male, age 17, with progressive vision loss, eye abnormalities, elevated eye pressure, and delayed speech and language development
View Participant
Female, age 4, with low muscle tone, motor delays, speech and language delays, and autism caused by a change in the RNU4-2 gene, diagnosed with ReNU syndrome
View Participant
Female, passed away at 12 weeks old, with thickening of the heart muscle (hypertrophic cardiomyopathy), abnormal brain activity on EEG, breathing difficulties, and metabolic abnormalities.
View Participant
Male, age 8, with feeding difficulties, failure to thrive, developmental delays, and speech apraxia
View Participant
Female, age 37, with nervous system dysfunction (dysautonomia), muscle weakness and fatigue, muscle cramping, and painful “pins-and-needles” feeling in extremities (small fiber neuropathy)
View Participant
Female, age 5, with developmental delay, immunodeficiency, and skin changes
View Participant
Male, age 5 with heart defect, brain abnormalities, and global developmental delay, partially caused by changes in the RBM28 gene
View Participant