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 081


Female, age 47 with painful redness of the feet, hands, and ears (erythromelalgia)

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Participant 080


Female, age 14 with difficulty walking (gait ataxia), trembling during precise movement (intention tremor), and learning disabilities

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Participant 079


Female, age 12 with epileptic encephalopathy caused by a genetic change in the GABRB2 gene

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Participant 078


Male, age 2 with low muscle tone, muscle weakness, and chronic respiratory issues

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Participant 077


Male, age 23 with an undiagnosed, young adult-onset neurological disorder with cognitive decline and uncontrolled seizures

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Participant 076


Male, age 10 with developmental regression, absent speech, seizures, and distinct facial features

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Participant 075


Female, age 4 with global developmental delay, absent speech, sparse hair, seizures, brain abnormalities, and short stature

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Participant 074


Female, age 32 with short stature, abnormal calcification in the kidneys (nephrocalcinosis), progressive hearing impairment (sensorineural), and diabetes

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Participant 073


Male, age 6 with chronic high blood pressure (hypertension), recurrent respiratory infections, and low muscle tone (central hypotonia)

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Participant 072


Female, age 26 with recurrent and severe bacterial, viral, and fungal infections

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