Solving Medical Mysteries
Through Team Science

Participant 068


Female, age 11, with seizures, weekly episodes of confusion and hallucination, problems with coordination (ataxia), tremors, ulcerative colitis, pancreas inflammation (pancreatitis), and developmental delay caused by a change in the NBEA gene

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Participant 067


Male, age 7, with global developmental delay, lack of coordinated movement (dysmetria), toe-walking, right-sided weakness, right hearing impairment, and weak cartilage in the walls of the larynx (laryngomalacia)

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Participant 066


Female, age 11, with Wieacker-Wolff syndrome

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Participant 065


Male, age 8, with an neuromuscular disorder caused by a change in the LMNA gene

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Participant 064


Male, age 10, with arthrogryposis multiplex congenita causing decreased flexibility of his joints, low muscle tone (muscle hypotonia), and low bone density (osteopenia)

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Participant 063


Male, age 6, with developmental delay, difficulty swallowing (dysphagia), low muscle tone (hypotonia), and difficulty walking (progressive gait disturbance)

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Participant 062


Male, age 56, with weakness, difficulty walking, polyneuropathy, seizure-like events, and cognitive decline

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Participant 061


Female, age 22, with refractory seizures

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Participant 060


Male, age 11, with childhood-onset dystonia 28 caused by a change in the KMT2B gene

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Participant 059


Male, age 5, with developmental delay and regression, seizures, and difficulty controlling voluntary movements (ataxia)

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