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.

Participant 186

 

Female, age 3 with multiple congenital anomalies

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Participant 185

 

Male, age 68 with a decrease in blood pressure when moving from sitting to standing (orthostatic hypotension due to autonomic dysfunction), daytime drowsiness (narcolepsy), and cataracts due to changes in the CHRNA3 gene.

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Participant 184

 

Female, age 24 with global developmental delay, intellectual disability, brain abnormality (Arnold-Chiari type I malformation), overactive thyroid (hyperthyroidism), and brittle bones (osteopenia)

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Participant 183

 

Female, age 13 with immune deficiency, joint pain (arthralgia), inflammation of the blood vessels in the eye (retinal vasculitis), and recurrent inflammation of the liver (hepatitis) caused by a change in the GDF11 gene

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Participant 182

 

Male, age 1 with abnormal white matter of the brain (leukodystrophy), global developmental delay, abnormal brain electrical activity, and eye abnormalities (visual impairment, optic atrophy, esotropia)

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Participant 181

 

Female, age 24 with chronic high blood pressure (hypertension) and autonomic nervous system dysfunction (dysautonomia)

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Participant 180

 

Female, age 12 with a history of seizures, brain imaging abnormalities, behavioral features (ADHD, hallucinations, and sleepwalking), mild to moderate bilateral sensorineural hearing loss, and distinctive facial features

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Participant 179

 

Male, age 13 with a history of seizures, involuntary muscle contractions (dystonia), irregular and involuntary jerky movements on one side of the body (hemiballismus), difficulty walking (gait disturbance), and brain imaging abnormalities caused by a change in the EIF2AK2 gene

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Participant 178

 

Male, age 7, with global developmental delay, muscle weakness, hand tremor, increased tone in lower limbs (hypertonia), and facial differences

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Participant 177

 

Male, age 4 with global developmental delay, low muscle tone of trunk (hypotonia), seizures, a history of clubbed feet (bilateral talipes equinovarus), head turned persistently to the right (torticollis), and webbing of the penis (penoscrotal fusion)

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