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Adams-Oliver syndrome (AOS4, sequence analysis of EOGT gene)
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Adams-Oliver syndrome (sequence analysis of ARHGAP31 gene)
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Adams-Oliver syndrome (sequence analysis of DLL4 gene)
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Adams-Oliver syndrome 3 (AOS3, sequence analysis of RBPJ gene)
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Adducted thumb-clubfoot syndrome (sequence analysis of CHST14 gene)
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Adenylosuccinase deficiency (sequence analysis of ADSL gene)
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Adrenal congenital hyperplasia due to 21-hydroxylase deficiency (deletion/duplication analysis on CYP21A2 gene)
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Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (sequence analysis of CYP11A1 gene)
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Adrenoleukodystrophy (deletion/duplication analysis of ABCD1 gene)
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Adrenoleukodystrophy (sequence analysis of ABCD1 gene)
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Adult Onset Cerebellar Ataxia (WES based NGS panel for 143 genes)
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ADULT syndrome (sequencing of the TP63 gene)
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Afibrinogenemia, congenital (sequence analysis of FGA gene)
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Afibrinogenemia, congenital (sequence analysis of FGG gene)
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Afibrinogenemia, congenital | Dysfibrinogenemia, congenital | Hypofibrinogenemia, congenital (sequence analysis of FGB gene)
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Agammaglobulinemia type 2 (sequence analysis of IGLL1 gene)
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Agammaglobulinemia, X-Linked (sequence analysis of BTK gene)
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Agenesis of the corpus callosum with peripheral neuropathy (deletion/duplication analysis on SLC12A6 gene)
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Agenesis of the corpus callosum with peripheral neuropathy (sequence analysis of SLC12A6 gene)
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Aicardi syndrome (sequence analysis of OCEL1 gene)
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