All individuals with variants in gene CLCN4

13 entries on 1 page. Showing entries 1 - 13.
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AscendingIndividual ID     

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Gender     

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Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

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Owner     
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) 6 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) 7 1 Yu Sun
00163911 - - - F - (Germany) - - 0 - - ? Microcephaly (HP:0000252); Global developmental delay (HP:0001263) 1 1 IMGAG
00172437 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 6 Lucy Raymond
00172438 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172439 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172440 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172441 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00183171 25644381-FamMRX49/L19 PubMed: Hu 2016 family, 4 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX non-specific borderline to profound ID 1 4 Johan den Dunnen
00183172 25644381-FamMRX15/T8 PubMed: Hu 2016 family, 1 affected M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00183173 25644381-FamN70 PubMed: Hu 2016 family, 1 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00183174 25644381-FamAU27 PubMed: Hu 2016 family, 2 affected, 4 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00183175 25644381-FamAU9 PubMed: Hu 2016 family, 3 affected, 7 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 3 Johan den Dunnen
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