Female, age 15, with a decline in language and memory (cognitive regression), sudden muscle jerks (myoclonus), and increased muscle tone in lower limbs (limb hypertonia)
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Male, age 3, with heart abnormalities, global developmental delay, brain MRI abnormality, and seizures (infantile spasms) that are now well treated and controlled.
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Male, age 11, with autism spectrum disorder, cognitive impairment, facial feature differences, and low muscle tone caused by a change in the MRTFB gene.
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Male, age 39, with slurred speech, problems with coordination, and cognitive problems caused by a change in the ATP13A2 gene
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Male, age 47, with progressive muscle weakness and wasting (skeletal muscle atrophy, muscular dystrophy).
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Male, age 17, with prune belly syndrome and strokes due to disease of the arteries in the brain (arteriopathy) caused by a change in the MIR145 gene
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Male, age 5, with global developmental delay, generalized low muscle tone, and recurrent respiratory infections
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Male, age 71, with elevated creatinine kinase levels, breakdown of muscle tissue (rhabdomyolysis), and discoloration of urine (pigmenturia)
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Female, age 5, with short stature, hearing loss, heart differences, gross motor delay, and low muscle tone
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Male, age 4, with a history of neonatal abstinence syndrome, global developmental delay, brain malformation (Chiari I malformation), and uncoordinated gait (gait ataxia)
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