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 116


Female, age 10 with Turner syndrome and an undiagnosed neurological condition

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Participant 115


Male, age 39 with involuntary muscle contractions (dystonia), difficulty speaking (dysphonia), and abnormal eye movements (saccadic smooth pursuit)

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Participant 114


Male, age 10 with severe global developmental delay, seizures, and aggressive behavior

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Participant 113


Male, age 1 with skeletal and brain anomalies, cloudy corneas, and adrenal insufficiency

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Participant 112


Male, age 4 with global developmental delay, brain abnormalities, seizures, and hearing and vision loss

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Participant 111


Male, age 12 with rapid progression of muscle weakness, problems with coordination (ataxia), and difficulty speaking (dysarthria)

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Participant 110


Female, age 5 with severe failure to thrive, low muscle tone, absence seizures, global developmental delay, scoliosis, high pain tolerance, and areas of darker and lighter skin on her right leg caused by triploidy mosaicism

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Participant 109


Male, age 13 with intellectual disability, absent speech, seizures, abnormality of brain white matter (periventricular leukomalacia), & curvature of the spine (kyphosis, scoliosis)

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Participant 108


Female, age 3 with a skeletal disorder thought to be caused by two variants in the TRIP11 gene

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Participant 107


Male, age 56 with lower motor neuron disease, muscle weakness, and muscle twitching (fasciculations)

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