Solving Medical Mysteries
Through Team Science

Participant 057


Male, age 21 months with weakness of the left side of the body (hemiparesis), seizures, and mast cell accumulation (mastocytosis)

Read More

Participant 056


Male, age 30 with GDF11-associated multiple congenital anomalies and intellectual disability

Read More

Participant 055


Female, age 12 with undiagnosed ataxia and progressive myoclonic epilepsy

Read More

Participant 054


Female, age 11 with features of Multiple pterygium syndrome, Escobar type. Her sister, age 8, is similarly affected. This condition can cause webbing of the skin, especially around the neck, fingers, elbows, and knees. Other symptoms of this condition include restriction of the joints (arthrogryposis) and a sideways curve of the spine (scoliosis). This syndrome is typically caused by mutations in the CHRNG gene, but testing for mutations in this gene has been negative.

Read More

Participant 053



Male, age 8 with TRIP12 associated autism with facial dysmorphology

Read More

Participant 052


Female, age 5 with global developmental delay, rhythmic and repetitive movements (stereotypic movements), and difficulty feeding

Read More

Participant 051


Male, age 4 with Helsmoortel-van der Aa syndrome

Read More

Participant 050


Male, age 11 with damage to the nerve that connects the eye to the brain (optic atrophy), drooping eyelids (congenital, bilateral, progressive ptosis), uncontrolled muscle movements (ataxia), and progressive fatigue

Read More

Participant 049


Female, age 8 with sudden behavioral change, developmental regression, repetitive speech (echolalia), and brain abnormalities

Read More

Participant 048

tall stature, occipital protuberance, atrial fibrillation


Male, age 62 with tall stature, a protruding area at the back of the head (occipital protuberance), atrial fibrillation, fragile and sagging skin, bowel diverticulitis, and chronic diarrhea

Read More