Solving Medical Mysteries
Through Team Science

Participant 055


Female, age 14, with ataxia and progressive myoclonic epilepsy caused by a change in the ADGRV1 gene

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Participant 054


Female, age 15, with features of multiple pterygium syndrome, Escobar type, caused by changes in the TTN gene

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Participant 053



Male, age 8, with autism with facial dysmorphology caused by a change in the TRIP12 gene

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Participant 052


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

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Participant 051


Male, age 4, with Helsmoortel-van der Aa syndrome caused by a change in the ADNP gene

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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

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Participant 049


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

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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

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Participant 047

cholecystitis, weakness, memory impairment


Female, age 49, with a history of a splenic artery aneurysm and gallbladder inflammation (cholecystitis), joint and muscle pain and weakness, and memory impairment

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Participant 046


Female, age 10, with developmental delay, joint contractures, seizures, and multiple birth defects caused by a change in the ZC4H2 gene

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