Neurology / Neuropediatrics
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Spastic paraplegia type 20 (Troyer syndrome, sequence analysis of SPART gene)
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Spastic paraplegia type 21 (Mast syndrome, sequence analysis of SPG21/ACP33 gene)
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Spastic paraplegia type 26 (SPG26, sequence analysis of B4GALNT1 gene)
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Spastic paraplegia type 28 (SPG28, sequence analysis of DDHD1 gene)
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Spastic paraplegia type 30 (SPG30, deletion/duplication on KIF1A gene)
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Spastic paraplegia type 30 (SPG30, sequence analysis of KIF1A gene)
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Spastic paraplegia type 31 (SPG31, sequence analysis of REEP1 gene)
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Spastic paraplegia type 33 (SPG33, sequence analysis of ZFYVE27 gene)
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Spastic paraplegia type 35 (SPG35, sequence analysis of FA2H gene)
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Spastic paraplegia type 39 (SPG39, sequence analysis of PNPLA6 gene)
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Spastic paraplegia type 42 (SPG42, sequence analysis of SLC33A1 gene)
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Spastic paraplegia type 44 (SPG44, sequence analysis of GJC2 gene)
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Spastic paraplegia type 46 (SPG46, sequence analysis of GBA2 gene)
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Spastic paraplegia type 46, autosomal recessive (SPG46, deletion/duplication analysis of GBA2 gene)
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Spastic paraplegia type 47 (SPG47, sequence analysis of AP4B1 gene)
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Spastic paraplegia type 48 (SPG48, sequence analysis of AP5Z1 gene)
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Spastic paraplegia type 50 (SPG50, sequence analysis of AP4M1 gene)
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Spastic paraplegia type 51 (SPG51, sequence analysis of AP4E1 gene)
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Spastic paraplegia type 56 (SPG56, sequence analysis of CYP2U1 gene)
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Spastic paraplegia type 5A (SPG5A, sequence analysis of CYP7B1 gene)
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