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 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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Participant 142

 

Female, age 1 with brain abnormalities (agenesis of the corpus callosum and arachnoid cyst) and chronic diarrhea caused by a change in the ARX gene (with severity impacted by her diagnosis of mosaic Turner syndrome)

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Participant 141

 

Female, age 3 with limited joint movement (arthrogryposis) and low muscle tone (hypotonia)

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Participant 140

 

Male, age 12 with intellectual disability, seizures, brain abnormalities (ventriculomegaly, malrotation of bilateral hippocampi), and bulging, weakened wall of the aortic root (aortic root aneurysm)

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Participant 139

 

Female, age 26 with a history of global developmental delay, moderate intellectual disability, and autism caused by a change in the SPTBN1 gene

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Participant 138

 

Male, age 3 with global developmental delay, abnormal muscle tone and movement, and light pigmentation of the hair and skin (hypopigmentation)

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Participant 137

 

Male, age 7 with global developmental delay, hearing loss, gastrointestinal abnormalities, and absent saliva flow (xerostomia) caused by a change in the SLC12A2 gene

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Participant 136

 

Male, age 8 with global developmental delay, large head size (macrocephaly), low muscle tone (hypotonia), and seizures

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Participant 135

 

Female, age 14 with severe intellectual disability, language delay (receptive and expressive language delay), and mild dysmorphic features

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Participant 134

 

Female, age 4 with seizures and global developmental delay

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