UDN

Solving Medical Mysteries
Through Team Science

Participant 114

 

Male, age 10 with severe global developmental delay, seizures, and aggressive behavior

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Participant 113

 

Male, age 1 with skeletal and brain anomalies, cloudy corneas, and adrenal insufficiency

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Participant 112

 

Male, age 4 with global developmental delay, brain abnormalities, seizures, and hearing and vision loss

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Participant 111

 

Male, age 12 with rapid progression of muscle weakness, problems with coordination (ataxia), and difficulty speaking (dysarthria)

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Participant 110

 

Female, age 5 with severe failure to thrive, low muscle tone, absence seizures, global developmental delay, scoliosis, high pain tolerance, and areas of darker and lighter skin on her right leg caused by triploidy mosaicism

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Participant 109

 

Male, age 13 with intellectual disability, absent speech, seizures, abnormality of brain white matter (periventricular leukomalacia), & curvature of the spine (kyphosis, scoliosis)

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Participant 108

 

Female, age 3 with a skeletal disorder thought to be caused by two variants in the TRIP11 gene

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Participant 107

 

Male, age 56 with lower motor neuron disease, muscle weakness, and muscle twitching (fasciculations)

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Participant 106

 

Male, age 25 with seizures, curvature of the spine (scoliosis), weak and brittle bones (osteoporosis), joint pain, and nontraumatic spine and rib fractures

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Participant 105

 

Male, passed away at age 2 with symptoms characteristic of You-Hoover-Fong syndrome thought to be caused by genetic changes in the TELO2 and TTI2 genes

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