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 158

 

Female, age 5 with seizures (status epilepticus), developmental regression, and eye abnormalities (strabismus, esotropia)

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Participant 157

 

Male, age 36 with distal myopathy 5 (OMIM 617030) caused by changes in the ADSSL1 gene

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Participant 156

 

Female, age 1, with low T-cell lymphocyte levels (T-cell lymphopenia) and immune system abnormalities (decreased IgG level in blood)

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Participant 155

 

Female, age 5 with seizures, ataxia, brain abnormalities, small head size (postnatal microcephaly), and severe expressive and receptive language delay

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Participant 154

 

Male, age 8 with global developmental day, autism, and uncoordinated walking (gait ataxia)

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Participant 153

 

Male, age 24 with seizures, skeletal differences (Madelung deformity, scoliosis, pectus excavatum, club foot) and global developmental delay

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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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