All individuals with variants in gene CLCN5

242 entries on 3 pages. Showing entries 1 - 100.
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Gender     

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Age at death     

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Data_av     

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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00025648 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025649 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025650 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025651 - - - M no France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025652 - - - M no France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025653 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025654 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025655 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025656 - - - M no France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025657 - - - M yes France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025658 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025659 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025660 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025661 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025662 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025663 - - - M no France white - 0 - - DENT-1 - 3 1 Rosa Vargas-Poussou
00025664 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025665 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025666 - - - M no France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025667 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025668 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025669 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025670 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025671 - - - M no France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025672 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025673 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025674 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025675 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025676 - - - M ? ? (unknown) - - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025677 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025678 - - - M ? ? (unknown) - - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025679 - - - M ? ? (unknown) - - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025680 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025681 - - - M no France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025682 - - - M no ? (unknown) - - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025683 - - - M ? ? (unknown) - - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025684 - - - M no Switzerland white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025685 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025686 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025687 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025688 - - - M no ? (unknown) - - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025689 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025690 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025691 - - - M no France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025692 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025693 - - - M no France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025694 - - - M no France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025695 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025696 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025697 - - - M no France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025698 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025699 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025700 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025701 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025702 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025703 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025704 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025705 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025706 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025707 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025708 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025709 - - - M ? ? (unknown) - - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025710 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025711 - - - M ? ? (unknown) - - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025712 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025713 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025714 - - - M ? ? (unknown) - - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025715 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025716 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025717 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025718 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025719 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025720 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025721 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025722 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025723 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025724 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025725 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025726 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025727 - - - M no France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025728 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025729 - - - M ? France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025730 - - - M no France white - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025731 - PubMed: Lloyd 1996 multi-general family - no United Kingdom (Great Britain) - - 0 - - DENT-1 - 1 1 Johan den Dunnen
00025732 - PubMed: Lloyd 1996 multi-generation family - no United Kingdom (Great Britain) - - 0 - - DENT-1 - 1 1 Johan den Dunnen
00025733 - PubMed: Lloyd 1996 3-generation family - no United Kingdom (Great Britain) - - 0 - - DENT-1 - 1 1 Rosa Vargas-Poussou
00025734 - PubMed: Lloyd 1996 multi-generation family - no United States - - 0 - - XRN-1 - 1 1 Rosa Vargas-Poussou
00025735 - PubMed: Lloyd 1996 multi-generation family - no United Kingdom (Great Britain) - - 0 - - DENT-1 - 1 1 Johan den Dunnen
00025736 - PubMed: Lloyd 1996 4-generation family, 9 affecteds - no Italy - - 0 - - rickets, hypophosphatemic, X-linked recessive - 1 9 Rosa Vargas-Poussou
00025737 - PubMed: Lloyd 1996 3-generation family, 3 affecteds - no United States - - 0 - - XRN-1 - 1 3 Johan den Dunnen
00025738 - PubMed: Lloyd 1996 multi-generation family - no United Kingdom (Great Britain) - - 0 - - DENT-1 - 1 1 Johan den Dunnen
00025739 - PubMed: Lloyd 1996 multi-generation family - no United Kingdom (Great Britain) - - 0 - - DENT-1 - 1 1 Johan den Dunnen
00025740 - PubMed: Lloyd 1996 multi-generation family - no United Kingdom (Great Britain) - - 0 - - DENT-1 - 1 1 Johan den Dunnen
00025741 - PubMed: Lloyd 1996 multi-generation family - no United Kingdom (Great Britain) - - 0 - - DENT-1 - 1 1 Johan den Dunnen
00025742 - PubMed: Lloyd 1996 multi-generation family - no United Kingdom (Great Britain) - - 0 - - DENT-1 - 1 1 Johan den Dunnen
00025743 - PubMed: Lloyd 1997 2-generation family, 2 affected males M - Japan - - 0 - - proteinuria, hypercalciuria, nephrocalcinosis see paper; low molecular weight proteinuria, hypercalciuria, nephrocalcinosis 1 2 Johan den Dunnen
00025744 - PubMed: Lloyd 1997 2-generation family, affected male M - Japan - - 0 - - proteinuria, hypercalciuria, nephrocalcinosis see paper; low molecular weight proteinuria, hypercalciuria, nephrocalcinosis 1 1 Johan den Dunnen
00025745 - PubMed: Lloyd 1997 2-generation family, 2 affected males M - Japan - - 0 - - proteinuria, hypercalciuria, nephrocalcinosis see paper; low molecular weight proteinuria, hypercalciuria, nephrocalcinosis 1 2 Johan den Dunnen
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