Solving Medical Mysteries
Through Team Science

Participant 069

Female, age 13, with recurrent skin rashes, immune system abnormalities (autoimmune hemolytic anemia, antiphospholipid antibody positivity), and muscle pain (myalgia)

Participant 068

Female, age 11, with seizures, weekly episodes of confusion and hallucination, problems with coordination (ataxia), tremors, ulcerative colitis, pancreas inflammation (pancreatitis), and developmental delay caused by a change in the NBEA gene

Participant 067

Male, age 7, with global developmental delay, lack of coordinated movement (dysmetria), toe-walking, right-sided weakness, right hearing impairment, and weak cartilage in the walls of the larynx (laryngomalacia)

Participant 066

Female, age 11, with Wieacker-Wolff syndrome

Participant 065

Male, age 8, with an neuromuscular disorder caused by a change in the LMNA gene

Participant 064

Male, age 10, with arthrogryposis multiplex congenita causing decreased flexibility of his joints, low muscle tone (muscle hypotonia), and low bone density (osteopenia)

Participant 063

Male, age 6, with developmental delay, difficulty swallowing (dysphagia), low muscle tone (hypotonia), and difficulty walking (progressive gait disturbance)

YouTube Video

Participant 062

Male, age 56, with weakness, difficulty walking, polyneuropathy, seizure-like events, and cognitive decline

Participant 061

Female, age 22, with refractory seizures

Participant 060

Male, age 11, with childhood-onset dystonia 28 caused by a change in the KMT2B gene