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 152

 

Female, age 3 with facial differences, heart abnormalities (hypoplastic left heart syndrome, mitral regurgitation, aortic insufficiency), kidney abnormalities (vesicoureteral reflux, hydronephrosis, medullary nephrocalcinosis) and global developmental delay

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Participant 151

 

Male, age 15 with plastic bronchitis, recurrent pneumonia and ear infections (otitis media)

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Participant 150

 

Female, age 7 with respiratory failure, feeding difficulties and global developmental delay

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Participant 149

 

Male, age 2 with seizures, absent speech, failure to thrive, and small head size (acquired microcephaly)

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Participant 148

 

Female, age 6 with developmental delay, problems with coordination (ataxia), difficulty speaking (dysarthria), and tremor

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Participant 147

 

Male, age 16 with Au-Kline syndrome caused by a change in the HNRNPK gene

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Participant 146

 

Female, age 17 with seizures, regression and brain abnormalities (cortical dysplasia, brain atrophy)

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Participant 145

 

Female, age 29 with difficulty controlling muscle movements (ataxia), difficulty speaking (dysarthria), muscle spasms and visual loss

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Participant 144

 

Female, age 3 with developmental delay, staring spells, low muscle tone (hypotonia), and uncontrolled eye movements (nystagmus)

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Participant 143

 

Female, age 3 with brain abnormalities, flow of urine from bladder to kidneys (vesicoureteral reflux), global developmental delay and atrial septal defect

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