Solving Medical Mysteries
Through Team Science

Participant 024

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

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)

Participant 022

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

Participant 021

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

Kaiser Health News story

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

Participant 019

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

Participant 018

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

Participant 017

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

Participant 016

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)

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)