Solving Medical Mysteries
Through Team Science

Finding Answers through Sharing

We are always looking for new participants that can help us better understand the medical mysteries plaguing us today. Here, you can learn more about some of our past participants and help us find and connect with others with the same or similar conditions.

If you or someone you know has any of the symptoms or genetic changes listed in these profiles, please contact us.

Each of these pages includes details about our participants. We respect the privacy of all our participants, and sharing information on our site is not a requirement to participate in the study. Only participants who have given us their consent will have information posted to our site.

Participant 104


Male, age 7 with global developmental delay, abnormal muscle contractions (dystonia), repetitive behaviors (stereotypy) and decreased tear secretion and sweating

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Participant 103


Male, age 5 with global developmental delay caused by a change in the MAPK8IP3 gene

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Participant 102


Male, age 15 with gastrointestinal dysmotility and chronic constipation

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Participant 101


Female, age 4 with seizures, global developmental delay, and underdeveloped optic nerve (optic nerve hypoplasia)

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Participant 100


Male, age 3 with global developmental delay, low muscle tone, and feeding difficulties

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Participant 099


Male, age 15 with arrhythmogenic right ventricular cardiomyopathy thought to be caused by genetic changes in the TAX1BP3 gene

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Participant 098


Female, age 33 with rapid, unexplained bilateral vocal cord spasms and muscle weakness

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Participant 097


Female, age 9 with spastic diplegia, low bone mineral density, and global developmental delay

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Participant 096


Female, age 18 with hearing and vision loss, bleeding disorder (Von Willebrand disease), and history of a tumor in infancy (sacrococcygeal germ cell tumor)

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Participant 095


Male, age 7 with intractable seizures, global developmental delay, absent speech, and low muscle tone (muscular hypotonia)

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