Solving Medical Mysteries
Through Team Science

Participant 028

Female, age 8, with very low blood sugar (hypoglycemia), developmental delay, and birth defects (tetralogy of Fallot, Chiari I malformation, tethered cord)

Participant 027

Male, age 5, with absolute iron deficiency anemia, behavioral problems, and recurrent infections

Participant 026

Female, age 14, with overgrowth, increased androgen secretion at an early age (premature adrenarche), and heavy and prolonged menstrual periods (menorrhagia)

Participant 025

Female, age 15, with weakness and stiffness in her limbs (spastic paraparesis), uncontrollable muscle contractions (dystonia), and slurred speech (dysarthria) caused by a change in the GNAO1 gene

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