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 068


Female, age 8 with seizures, weekly episodes of confusion and hallucination, problems with coordination (ataxia), tremor, ulcerative colitis, pancreas inflammation (pancreatitis), and developmental delay

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Participant 067


Male, age 7 with global developmental delay, lack of coordinated movement (dysmetria), toe walking, right sided weakness, right hearing impairment, and weak cartilage in the walls of the larynx (laryngomalacia)

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Participant 066


Female, age 11 with Wieacker-Wolff syndrome

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Participant 065


Male, age 7 with an undiagnosed neuromuscular disorder

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Participant 064


Male, age 10 with arthrogryposis multiplex congenita causing decreased flexibility of his joints, low muscle tone (muscle hypotonia), and low bone density (osteopenia)

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Participant 063


Male, age 6 with developmental delay, difficulty swallowing (dysphagia), low muscle tone (hypotonia), and difficulty walking (progressive gait disturbance)

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Participant 062


Male, age 56 with weakness, difficulty walking, polyneuropathy, seizure-like events, and cognitive decline

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Participant 061


Female, age 22 with refractory seizures

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Participant 060


Male, age 11 with childhood onset dystonia 28

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Participant 059


Male, age 5 with developmental delay and regression, seizures, and difficulty controlling voluntary movements (ataxia)

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