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Perlman syndrome (sequence analysis of DIS3L2 gene)
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Permanent neonatal diabetes mellitus (deletion/duplication analysis on ABCC8 gene)
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Permanent neonatal diabetes mellitus (deletion/duplication analysis on INS gene)
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Permanent neonatal diabetes mellitus (deletion/duplication analysis on KCNJ11 gene)
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Permanent neonatal diabetes mellitus (deletion/duplication analysis on PDX1 gene)
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Permanent neonatal diabetes mellitus (sequence analysis of KCNJ11 gene)
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Peroxisome biogenesis disorder 10A (PBD10A, Zellweger) (deletionduplication analysis of PEX3 gene)
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Peroxisome biogenesis disorder 14B (sequence analysis of PEX11B gene)
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Peroxisome biogenesis disorder 2A (Zellweger) | Peroxisome biogenesis disorder 2B | Rhizomelic chondrodysplasia punctata, type 5 (deletion/duplication analysis of PEX5 gene)
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Peroxisome biogenesis disorder 7A (PBD7A, Zellweger) (deletion/duplication analysis on PEX26 gene)
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Perrault syndrome 1 (PRLTS1, sequence analysis of HSD17B4 gene)
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Perrault syndrome 2 (PRLTS2, sequence analysis of HARS2 gene)
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Perrault syndrome 3 (PRLTS3, sequence analysis of CLPP gene)
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Perrault syndrome 4 (PRLTS4, sequence analysis of LARS2 gene)
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Perrault syndrome 5 (sequence analysis of TWNK/C10orf2 gene)
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Persistent hyperplastic primary vitreous, AR (sequence analysis of ATOH7 gene)
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Persistent Muller channel syndrome type I (deletion/ duplication in the AMH gene)
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Persistent Mullerian duct syndrome type I (sequence analysis of AMH gene)
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Persistent Mullerian duct syndrome type II (sequence analysis of AMHR2 gene)
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Peters anomaly (sequence analysis of FOXC1 gene)
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