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 200

 

Female, age 38, with severe dysfunction of the autonomic nervous system (dysautonomia), sudden drops in blood pressure (vasovagal syncope), and loss of bladder control (neurogenic bladder).

 

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Participant 199

 

Male, age 14, with a weakened immune system (common variable immune deficiency), mitochondrial deficiency (complex I), delayed stomach emptying (gastroparesis), and multiple congenital anomalies.

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Participant 198

 

Female, age 20, with dopamine deficiency and damaged nerves in her hands and feet (peripheral neuropathy) caused by a change in the DNM1L gene.

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Participant 197

 

Female, age 7, with childhood-onset chronic constipation, loss of bladder and bowel control (urinary incontinence and encopresis), and mild global developmental delay.

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Participant 196

 

Male, passed away at 19 months, with poor growth, small head (severe progressive microcephaly), global developmental delay, vision and hearing impairment, autoimmune disease, and brain abnormalities thought to be caused by a complex duplication involving the genes ATAD3B and ATAD3A and ATAD3C.

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Participant 195

 

Male, age 10, with seizures, structural brain abnormalities, and global developmental delay.

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Participant 194

 

Male, age 9, with seizures, developmental delay, and enlarged ears (macrotia)

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Participant 193

 

Male, age 18, with global developmental delay, autism, severe eczema, and multiple congenital anomalies

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Participant 192

 

Undiagnosed male, age 3, with neurodevelopmental delay, previously refractory focal epilepsy that is now well controlled, brain MRI abnormalities, and other physical differences related to the eyes, ears, and nose.

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Participant 191

 

Female, age 5, with Noonan syndrome, systemic-onset juvenile idiopathic arthritis, and multiple congenital anomalies.

 

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