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Polycystic liver disease (sequence analysis of SEC63 gene)
+ info
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Polyglucosan body disease, adult form (sequence analysis of GBE1 gene)
+ info
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Polymicrogyria with optic nerve hypoplasia (deletion/duplication analysis of TUBA8 gene)
+ info
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Polymicrogyria with optic nerve hypoplasia (sequence analysis of TUBA8 gene)
+ info
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Polymicrogyria with seizures (sequence analysis of RTTN gene)
+ info
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Polymicrogyria, bilateral frontoparietal (sequence analysis of ADGRG1/GPR56 gene)
+ info
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Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract (sequence analysis of ABHD12 gene)
+ info
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Polyposis, juvenile intestinal (deletion/duplication analysis on BMPR1A gene)
+ info
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Polyposis, juvenile intestinal (sequence analysis of BMPR1A gene)
+ info
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Pontocerebellar hypoplasia type 1A (sequence analysis of VRK1 gene)
+ info
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Pontocerebellar hypoplasia type 1B (sequence analysis of EXOSC3 gene)
+ info
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Pontocerebellar hypoplasia type 2A (deletion/duplication analysis of TSEN54 gene)
+ info
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Pontocerebellar hypoplasia type 2A (sequence analysis of TSEN54 gene)
+ info
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Pontocerebellar hypoplasia type 2B (deletion/duplication analysis of TSEN2 gene)
+ info
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Pontocerebellar hypoplasia type 2B (sequence analysis of TSEN2 gene)
+ info
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Pontocerebellar hypoplasia type 2C (sequence analysis of TSEN34 gene)
+ info
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Pontocerebellar hypoplasia type 6 (sequence analysis of RARS2 gene)
+ info
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Pontocerebellar hypoplasia type 8 (sequence analysis of CHMP1A gene)
+ info
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Pontocerebellar hypoplasia type 9 (sequence analysis of AMPD2 gene)
+ info
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Pontocerebellar hypoplasia, type 1C (sequence analysis of EXOSC8 gene)
+ info
