Solving Medical Mysteries
Through Team Science

Participant 034

weakness, dizziness, & paralysis


Female, age 26, with muscle weakness and pain (myalgia), chronic fatigue, exercise intolerance, and severe episodes of weakness, dizziness, and paralysis.

Read More

Participant 033

progressive muscle weakness


Female, age 17, with limb-girdle muscular dystrophy type 2Y caused by changes in the TOR1AIP1 gene.

Read More

Participant 032



Male, age 5, with developmental delay and abnormal MRI findings (T2 hyperintensity of caudate nuclei and putamen bilaterally) caused by changes in the MECR gene

Read More

Participant 031



Male, age 6, with developmental regression, hypotonia, difficulty controlling voluntary movements (limb and truncal ataxia), and lack of coordination caused by a change in the IRF2BPL gene

Read More

Participant 030

Schnitzler syndrome


Male, age 70, with Schnitzler syndrome

Read More

Participant 029

infantile spasms


Male, age 4, with seizures (infantile spasms), abnormal MRI findings (delayed myelination, thinning of the corpus callosum), and developmental delay

Read More

Participant 028

hypoglycemia and developmental delay


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

Read More

Participant 027

absolute iron deficiency anemia


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

Read More

Participant 026



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

Read More

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

Read More