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 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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Participant 133

 

Female, age 3 with global developmental delay, failure to thrive, absent speech, and low muscle tone (hypotonia)

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Participant 132

 

Female, age 43 with itchy skin inflammation (psoriasiform dermatitis), blood clots in veins (thrombophlebitis), and head and joint pain (arthralgia)

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Participant 131

 

Male, age 14 with gross motor and language delay, borderline intellectual disability, and damage to the optic nerve (optic atrophy)

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Participant 130

 

Male, age 17 with intellectual disability, history of leukemia, heart abnormalities, and multiple abnormal bone and cartilage growths (osteochondromas)

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Participant 129

 

Female, age 17 with global developmental delay, seizures, problems with coordination (ataxia), and involuntary muscle contractions (dystonia)

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Participant 128

 

Female, age 6 with carnitine deficiency, thyroid disease, episodes of brain disease (episodic encephalopathy), problems with coordination (ataxia), and low blood sugar (hypoglycemia)

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Participant 127

 

Male, age 4 with Roifman syndrome caused by changes in the RNU4ATAC gene

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