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 095


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

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Participant 094


Male, age 16 with global developmental delay, absent speech, intellectual disability, and involuntary muscle contractions (dystonia)

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Participant 093


Female, age 10 with a tall and slender build (marfanoid habitus), seizures, IgA deficiency, and GI issues (gastrointestinal dysmotility)

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Participant 092


Female, age 6 with global developmental delay, severe motor impairment, involuntary muscle contractions (dystonia), and variants in the PAPSS1 gene

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Participant 091


Female, age 57 with progressive, undiagnosed muscle weakness

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Participant 090


Male, age 5 with absent speech, intellectual disability, and uncoordinated walking (gait ataxia) caused by a genetic change in the ATP6V1A gene

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Participant 089


Male, age 40 with abnormal bladder function (nocturia, polyuria, isosthenuria), acute kidney injury, and poor regulation of heart rate when moving from sitting to standing (postural orthostatic tachycardia syndrome)

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Participant 088


Female, age 5 with short stature, hyper-extensible joints, fine hair, anemia, and leukocytosis

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Participant 087


Male, age 8 with difficulty growing (failure to thrive) and GI issues (gastrointestinal dysmotility)

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Participant 086


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

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