Solving Medical Mysteries
Through Team Science

Participant 011

nasal polyps


Male, age 55 with wheezing, chronic sinus infections (sinusitis), nasal polyps, chronic fatigue, a bulging, weakened wall of the aortic root (ascending aortic root aneurysm), and neuropathy caused by changes in the IFIH1 gene

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Participant 010

complex neuromuscular condition


Male, age 7, with a complex neuromuscular condition involving vocal cord paralysis, feeding issues, and reduced nerve responses

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Participant 009



Female, age 14, with primary ciliary dyskinesia

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Participant 008

developmental delay


Male, age 18 with global developmental delay, autism, severe nearsightedness (myopia), different facial features, heart defects (atrial septal defect, ventricular septal defect) and a cleft palate caused by a change in the KMT2C gene

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Participant 007


Male, age 35, with triple A syndrome (achalasia (esophagus damage), Addison disease (adrenal gland disorder), and alacrima (inability to produce tears)

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Participant 006

increased weight


Male, age 3 with low muscle tone (hypotonia), developmental delay, and increased weight caused by a change in the PRKAR1B gene

YouTube channel MIT Technology Review article

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Participant 005

Shashi-Pena syndrome


Male, age 8, with macrosomia, a glabellar hemangioma, and learning difficulties caused by a change in the ASXL2 gene (Shashi-Pena syndrome)

Interview (WRAL Channel 5)

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Participant 004

Seizures, cataracts, microcephaly


Male, age 20 months, with seizures, cataracts, small head size (microcephaly), and global developmental delay caused by a change in the NACC1 gene

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Participant 003


Female, age 8 with hypotonia, delayed brain myelination, and developmental delays caused by a change in the CACNA1A gene

CNN Article

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Participant 002


Female, age 2, with absent thyroid and inflammatory disease of the muscle (polymyositis)

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