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Smith-Magenis syndrome (sequence analysis of RAI1 gene)
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Smith-McCort dysplasia (deletion/duplication analysis of DYM gene)
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Smooth muscle dysfunction (R179H mutation on ACTA2 gene)
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Sorsby fundus dystrophy (sequence analysis of TIMP3 gene)
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Sotos syndrome (deletion/duplication analysis on NSD1 and NFIX genes)
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Sotos syndrome (sequence analysis of NSD1 gene)
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Sotos syndrome 2 (sequence analysis of NFIX gene)
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Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (deletion/duplication analysis of NKX6-2 gene)
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Spastic ataxia of Charlevoix-Saguenay (ARSACS, deletion/duplication analysis of SACS gene)
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Spastic ataxia, Charlevoix-Saguenay type (ARSACS, sequence analysis of SACS gene)
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Spastic paraplegia 23 | Congenital anomalies of kidney and urinary tract 1 (CAKUT) (deletion/duplication analysis of DSTYK gene)
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Spastic paraplegia 39 | Boucher-Neuhauser syndrome | Oliver-McFarlane syndrome | Laurence-Moon syndrome (deletion/duplication analysis on PNPLA6 gene)
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Spastic paraplegia and psychomotor retardation with or without seizures (deletion/duplication analysis of HACE1 gene)
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Spastic paraplegia type 1 (MASA and CRASH syndrome, sequence analysis of L1CAM gene)
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Spastic paraplegia type 10 (SPG10, sequence analysis of KIF5A gene)
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Spastic paraplegia type 11 (SPG11, deletion/duplication analysis of SPG11 gene)
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Spastic paraplegia type 11 (SPG11, sequence analysis of SPG11 gene)
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Spastic paraplegia type 12 (SPG12, deletion/duplication analysis of RTN2 gene)
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Spastic paraplegia type 12 (SPG12, sequence analysis of RTN2 gene)
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Spastic paraplegia type 13 (SPG13, sequence analysis of HSPD1 gene)
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