UDN

Solving Medical Mysteries
Through Team Science

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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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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