UDN

Solving Medical Mysteries
Through Team Science

Participant 220

 

Male, age 49, with intermittent episodes suggestive of pheochromocytoma, elevated urinary metabolites, testicular pain, and a neuroendocrine tumor

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Participant 219

 

Male, age 4, with autism, delayed speech and development, gap between larynx and esophagus (laryngeal cleft), and low muscle tone (hypotonia)

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Participant 218

 

Male, age 16, with abnormal muscle twitching, saliva build up, and autism

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Participant 217

 

Female, passed away at 5 months, and male, passed away at 7 months, with seizures, developmental regression, and abnormal muscle tone.

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Participant 216

 

Female, age 2, with global developmental delay, finger anomalies (thumb and small finger hypoplasia), and a congenital heart defect (moderate VSD) caused by mosaic trisomy 4.

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Participant 215

 

Female, age 10, with low oxygen level in the blood (chronic hypoxemia), lung disease that causes lung scarring (pulmonary fibrosis), respiratory failure, and delayed speech and language development.

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Participant 213

 

Female, age 30, with muscle weakness and wasting, loss of consciousness, heart rate abnormalities, and suspected abnormal autonomic nervous system physiology

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Participant 214

 

Female, age 8, with seizures, hearing loss (sensorineural), vision loss, and a decline in language skills

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Participant 212

 

Male, age 13, with behavioral disorders, congenital heart defects, and a brain malformation

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Participant 211

 

Female, age 15, with a decline in language and memory (cognitive regression), sudden muscle jerks (myoclonus), and increased muscle tone in lower limbs (limb hypertonia)

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