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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Congenital Cytomegalovirus Infection
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Huntington Disease: Clinical Features and Diagnosis
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Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
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Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
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The Autosomal Recessive Cerebellar Ataxias
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Aicardi-Gouti�res Syndrome
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Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Congenital Muscular Dystrophy with Primary Laminin a2 (Merosin) Deficiency Presenting as Inflammatory Myopathy
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Congenital Inflammatory Myopathy
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Alternating Hemiplegia of Childhood
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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The Neuropathy of Acute Intermittent Porphyria
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