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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Molybdenum Cofactor Deficiency
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Decoding Cryptogenic Cardioembolism
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Hypomelanosis of Ito
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Angelman Syndrome: Clinical Profile
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Familial Porencephaly
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Cockayne Syndrome
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Von Recklinghausen Neurofibromatosis
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Agenesis of the Corpus Callosum
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