Solving Medical Mysteries
Through Team Science

Participant 022


Female, age 22 with short stature; joint contractures; tight, thickened skin; growth hormone deficiency; and restrictive lung disease.

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Participant 021

neurodegenerative condition


Male, age 28 with a neurodegenerative condition

Kaiser Health News story

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Participant 020



Female, age 44 with history of migraine headaches, sleep apnea, anxiety, myoclonic jerks, temperature intolerance, arthritis of the hands, osteoarthritis of the spine


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Participant 019


2 year-old male with visual impairment, repetitive and uncontrolled eye movements (nystagmus), low muscle tone (hypotonia), unsteady walk (gait), and developmental delay

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Participant 018

progressive neuromuscular condition


Female, age 22 with a progressive neuromuscular condition

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Participant 017

atopic dermatitis


Female, age 26 with itchy skin inflammation (atopic dermatitis), hyper-active immune system, asthma, very high immunoglobulin E (IgE) levels, and swollen lymph nodes (lymphadenopathy)

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Participant 016

Floating Harbor syndrome


Male, age 8 with Floating Harbor syndrome



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Participant 015



Female, age 14 with autism spectrum disorder, intellectual disability, self-injurious behaviors, seizures, muscle weakness, a large head size (macrocephaly), and a brain tumor (astrocytoma)

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Participant 014

hearing loss


Female, age 20 with early onset hearing loss, frequent fevers and flares of pain with blurred vision and vomiting, systemic itching, delayed gastric emptying (gastroparesis), recurrent infections, and reduced sweating

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Participant 013



Female, age 49 with muscle weakness, balance problems, clumsiness, muscle twitching (fasciculations) and cramps, abnormal heart rhythm (second-degree AV block), episodes of high potassium (hyperkalemia), restrictive lung disease, double vision (diplopia), and seizures

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