Solving Medical Mysteries
Through Team Science

Finding Answers through Sharing

We are always looking for new participants that can help us better understand the medical mysteries plaguing us today. Here, you can learn more about some of our past participants and help us find and connect with others with the same or similar conditions.

If you or someone you know has any of the symptoms or genetic changes listed in these profiles, please contact us.

Each of these pages includes details about our participants. We respect the privacy of all our participants, and sharing information on our site is not a requirement to participate in the study. Only participants who have given us their consent will have information posted to our site.

Participant 128


Female, age 6 with carnitine deficiency, thyroid disease, episodes of brain disease (episodic encephalopathy), problems with coordination (ataxia), and low blood sugar (hypoglycemia)

Read More

Participant 127


Male, age 4 with Roifman syndrome caused by changes in the RNU4ATAC gene

Read More

Participant 126


Male, age 4 with global developmental delay thought to be caused by a genetic change in the FBXO11 gene

Read More

Participant 125


Male, age 24 with seizures, growth hormone deficiency, low levels of pituitary hormones (panhypopituitarism), and low levels of blood cells (pancytopenia)

Read More

Participant 124


Female, age 10 with seizures, eye abnormalities (retinal coloboma, microphthalmia, strabismus) and severe global developmental delay

Read More

Participant 123


Female, age 2 with global developmental delay, brain abnormalities, abnormal head movements, and trembling during precise movement (intention tremor)

Read More

Participant 122


Male, age 5 with delayed gastric emptying (gastroparesis), episodes of low blood sugar and high ketones (ketotic hypoglycemia), kidney abnormalities, gait disturbance, and high blood pressure (hypertension)

Read More

Participant 121


Male, age 4 with global developmental delay, decreased muscle tone (hypotonia), delayed brain development (delayed myelination), visual impairment, and a large head size (macrocephaly)

Read More

Participant 120


Female, age 2 with seizures, profound global developmental delay, involuntary movements (chorea), and elevated serum pipecolic acid

Read More

Participant 119


Male, age 16 with weak and brittle bones (osteoporosis), immune system abnormalities (antinuclear antibody positivity), and type 1 diabetes mellitus

Read More