Solving Medical Mysteries
Through Team Science

Participant 024

developmental delay, seizures


Female, age 2, with developmental delay, seizures, vision loss (cortical visual impairment) and a small head size (microcephaly)

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Participant 023



Female, age 24, with poor muscle coordination (ataxia), blurred vision (cataracts), intellectual disability, hearing loss (sensorineural), and small, discolored, and easily damaged teeth (amelogenesis imperfecta)

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Participant 022


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

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Participant 021

neurodegenerative condition


Male, age 28, with a neurodegenerative condition involving weakness, seizures, tremors, & slurred speech

Kaiser Health News story

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Participant 020



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


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Participant 019


Male, age 2, with visual impairment, repetitive and uncontrolled eye movements (nystagmus), low muscle tone (hypotonia), unsteady gait, and developmental delay

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Participant 018

progressive neuromuscular condition


Female, age 22, with a progressive neuromuscular condition involving weakness and restrictive lung disease

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Participant 017

atopic dermatitis


Female, age 26, with itchy skin inflammation (atopic dermatitis), hyperactive 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 feeding issues, delayed bone age, chronic ear infections, and sleep apnea caused by a change in the SRCAP gene (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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