UDN

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 220

 

Male, age 49, with intermittent episodes suggestive of pheochromocytoma, elevated urinary metabolites, testicular pain, and a neuroendocrine tumor

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Participant 219

 

Male, age 4, with autism, delayed speech and development, gap between larynx and esophagus (laryngeal cleft), and low muscle tone (hypotonia)

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Participant 218

 

Male, age 16, with abnormal muscle twitching, saliva build up, and autism

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Participant 217

 

Female, passed away at 5 months, and male, passed away at 7 months, with seizures, developmental regression, and abnormal muscle tone.

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Participant 216

 

Female, age 2, with global developmental delay, finger anomalies (thumb and small finger hypoplasia), and a congenital heart defect (moderate VSD) caused by mosaic trisomy 4.

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Participant 215

 

Female, age 10, with low oxygen level in the blood (chronic hypoxemia), lung disease that causes lung scarring (pulmonary fibrosis), respiratory failure, and delayed speech and language development.

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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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