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 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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Participant 126

 

Male, age 4 with global developmental delay thought to be caused by a genetic change in the FBXO11 gene

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Participant 125

 

Male, age 24 with seizures, growth hormone deficiency, low levels of pituitary hormones (panhypopituitarism), and low levels of blood cells (pancytopenia)

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Participant 124

 

Female, age 10 with seizures, eye abnormalities (retinal coloboma, microphthalmia, strabismus) and severe global developmental delay

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Participant 123

 

Female, age 2 with global developmental delay, brain abnormalities, abnormal head movements, and trembling during precise movement (intention tremor)

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Participant 122

 

Male, age 5 with delayed gastric emptying (gastroparesis), episodes of low blood sugar and high ketones (ketotic hypoglycemia), kidney abnormalities, gait disturbance, and high blood pressure (hypertension)

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Participant 121

 

Male, age 4 with global developmental delay, decreased muscle tone (hypotonia), delayed brain development (delayed myelination), visual impairment, and a large head size (macrocephaly)

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Participant 120

 

Female, age 2 with seizures, profound global developmental delay, involuntary movements (chorea), and elevated serum pipecolic acid

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Participant 119

 

Male, age 16 with weak and brittle bones (osteoporosis), immune system abnormalities (antinuclear antibody positivity), and type 1 diabetes mellitus

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