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 086


Female, age 25 with Landau-Kleffner syndrome and progressive lower limb weakness

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Participant 085


Female, age 5 with developmental delay, seizures, congenital cataracts, hearing loss, swallowing difficulty, atrial septal defect, repetitive behaviors (stereotypy), low blood platelet levels (thrombocytopenia), anemia, and a blueberry muffin rash identified at birth

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Participant 084


Female, age 10 with multiple congenital anomalies including choanal stenosis, Chiari 1 malformation, two-vessel short cord, right eye microphthalmia with coloboma, and heart defects (bicuspid aortic valve, hypoplasia of aortic arch)

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Participant 083


Male, age 3 with involuntary movements (choreoathetosis), global developmental delay, eye turning inward (alternating esotropia), episodic eye rolling, and low muscle tone (hypotonia)

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Participant 082


Female, age 8 with an undiagnosed progressive neuromuscular disorder with fatigue, global developmental delay and regression, severe gastrointestinal issues including poor gut motility with TPN dependency, failure to thrive, seizures, frequent infections, and autonomic dysfunction

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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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