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. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.

Participant 213


Female, age 30, with muscle weakness and wasting, loss of consciousness, heart rate abnormalities, and suspected abnormal autonomic nervous system physiology

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Participant 214


Female, age 8, with seizures, hearing loss (sensorineural), vision loss, and a decline in language skills

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Participant 212


Male, age 13, with behavioral disorders, congenital heart defects, and a brain malformation

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Participant 211


Female, age 15, with a decline in language and memory (cognitive regression), sudden muscle jerks (myoclonus), and increased muscle tone in lower limbs (limb hypertonia)

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Participant 210


Male, age 3, with heart abnormalities, global developmental delay, brain MRI abnormality, and seizures (infantile spasms) that are now well treated and controlled.

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Participant 209


Male, age 11, with autism spectrum disorder, cognitive impairment, facial feature differences, and low muscle tone caused by a change in the MRTFB gene.

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Participant 208


Male, age 39, with slurred speech, problems with coordination, and cognitive problems caused by a change in the ATP13A2 gene

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Participant 207


Male, age 47, with progressive muscle weakness and wasting (skeletal muscle atrophy, muscular dystrophy).

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Participant 206


Male, age 17, with prune belly syndrome and strokes due to disease of the arteries in the brain (arteriopathy) caused by a change in the MIR145 gene

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Participant 205


Male, age 5, with global developmental delay, generalized low muscle tone, and recurrent respiratory infections

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