Male, age 18, with weak and brittle bones (osteoporosis), immune system abnormalities (antinuclear antibody positivity), and type 1 diabetes mellitus
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Female, age 18, with seizures, severe intellectual disability, regression, and abnormal brain findings
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Female, age 16, with intellectual disability, seizures, and brain and skeletal abnormalities (craniosynostosis, congenital hip and knee dislocation, hydrocephalus with an Arnold-Chiari type I malformation)
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Female, age 10, with Turner syndrome and an undiagnosed neurological condition
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Male, age 39, with involuntary muscle contractions (dystonia), difficulty speaking (dysphonia), and abnormal eye movements (saccadic smooth pursuit)
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Male, age 10, with severe global developmental delay, seizures, and aggressive behavior
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Male, age 1, with skeletal and brain anomalies, cloudy corneas, and adrenal insufficiency
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Male, age 4, with global developmental delay, brain abnormalities, seizures, and hearing and vision loss
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Male, age 12, with rapid progression of muscle weakness, problems with coordination (ataxia), difficulty speaking (dysarthria), and severe cerebellar atrophy on brain imaging
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Female, age 5, with severe failure to thrive, low muscle tone, absence seizures, global developmental delay, scoliosis, high pain tolerance, and areas of darker and lighter skin on her right leg caused by triploidy mosaicism
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