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Parkinsonism-Dystonia, infantile (sequence analysis of SLC6A3 gene)
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Paroxysmal nocturnal hemoglobinuria (deletion/duplication analysis on PIGA gene)
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Paroxysmal nocturnal hemoglobinuria (sequence analysis of PIGA gene)
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Paroxysmal nonkinesigenic dyskinesia (sequence analysis of MR1 gene)
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Paroxysmal nonkinesigenic dyskinesia 1 (deletion/duplication analysis on PNKD gene)
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Paroxysmal nonkinesigenic dyskinesia 1 (sequence analysis of PNKD gene)
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Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (deletion/duplication analysis of KCNMA1 gene)
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Peeling skin syndrome 2 (sequence analysis of TGM5 gene)
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Pelizaeus-Merzbacher Disease (deletion/duplicaction analysis on PLP1 gene)
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Pelizaeus-Merzbacher disease (sequence analysis of PLP1 gene)
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Pena-Shokeir syndrome type 1 (sequence analysis of DOK7 gene)
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Pena-Shokeir syndrome type 2 (sequence analysis of ERCC6 gene)
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Pendred syndrome (deletion/duplication analysis on SLC26A4 gene)
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Pendred syndrome | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (sequence analysis of SLC26A4 gene)
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Pentosuria (sequence analysis of DCXR gene)
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Periodic Fever Syndrome (NGS panel of 8 genes)
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Periventricular heterotopia (deletion/duplication analysis of FLNA gene)
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Periventricular heterotopia with microcephaly (deletion/duplication analysis on ARFGEF2 gene)
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Periventricular heterotopia with microcephaly (sequence analysis of ARFGEF2 gene)
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Periventricular Heterotopia | Otopalatodigital syndrome (sequence analysis of FLNA gene)
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