LYST
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Infantile Nystagmus
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Parkinson disease
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Infantile nystagmus
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Hereditary neuropathies (includes Charcot-Marie-Tooth)
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Hereditary spastic paraparesis
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Epilepsy
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Cytopenias and inborn errors of immunity
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Familial hemophagocytic iymphohistiocytosis
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Autoimmune and autoinflammatory syndromes
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Phagocytic disorders including neutropenia