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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Male, age 5, with global developmental delay, coordination and movement problems (ataxia), and speech delays
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Female, age 40, with severe dysfunction of the autonomic nervous system (dysautonomia), sudden drops in blood pressure (vasovagal syncope), and loss of bladder control (neurogenic bladder).
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Male, age 14, with a weakened immune system (common variable immune deficiency), mitochondrial deficiency (complex I), delayed stomach emptying (gastroparesis), and multiple congenital anomalies.
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