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N-acetylglutamate synthase deficiency
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N-acetylneuraminic acid storage disease see sialic acid storage disease
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NAGS deficiency see N-acetylglutamate synthase deficiency
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Nail Diseases see nail-patella syndrome
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nail-patella syndrome
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NANA storage disease see sialic acid storage disease
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Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia
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Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia
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NARP see neuropathy, ataxia, and retinitis pigmentosa
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NBCCS see Gorlin syndrome
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NBIA, PLA2G6-related see infantile neuroaxonal dystrophy
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NBIA1 see pantothenate kinase-associated neurodegeneration
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Neonatal osseous dysplasia 1 see atelosteogenesis type 2
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Neuroacanthocytosis see chorea-acanthocytosis
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Neuroaxonal Dystrophy, Juvenile see infantile neuroaxonal dystrophy
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Neuroaxonal dystrophy, juvenile-onset see pantothenate kinase-associated neurodegeneration
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Neuroaxonal Dystrophy, Late Infantile see infantile neuroaxonal dystrophy
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Neuroblastoma, retinal see retinoblastoma
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Neurodegeneration with brain iron accumulation, PLA2G6-related see infantile neuroaxonal dystrophy
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Neurodegeneration with Brain Iron Accumulation Type 1 see pantothenate kinase-associated neurodegeneration
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neuroferritinopathy
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Neurofibromatosis
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neurofibromatosis type 1
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neurofibromatosis type 2
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neurogenic muscle weakness, ataxia, and retinitis pigmentosa see neuropathy, ataxia, and retinitis pigmentosa
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Neurologic Diseases
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Neuromuscular disorders
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Neuronal Cholesterol Lipidosis see Niemann-Pick disease
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neuronopathy, distal hereditary motor, type V see distal hereditary motor neuropathy, type V
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neuropathy, ataxia, and retinitis pigmentosa
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neuropathy, giant axonal see giant axonal neuropathy
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Nevoid Basal Cell Carcinoma Syndrome see Gorlin syndrome
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Newborn Screening
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NF1 see neurofibromatosis type 1
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NF2 see neurofibromatosis type 2
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Niemann-Pick disease
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NKH see glycine encephalopathy
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Noack syndrome see Pfeiffer syndrome
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non-ketotic hyperglycinemia see glycine encephalopathy
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Non-Phenylketonuric Hyperphenylalaninemia see tetrahydrobiopterin deficiency
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Nonketotic Hyperglycinemia see glycine encephalopathy
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Nonne-Milroy lymphedema see Milroy disease
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nonsyndromic deafness
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Noonan syndrome
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Norio syndrome see Cohen syndrome
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Norrie disease
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NPD see Niemann-Pick disease
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