All individuals with variants in gene KLHL15

7 entries on 1 page. Showing entries 1 - 7.
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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) 2 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) 2 1 Yu Sun
00150208 26539891-FamBAB4633 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - ? intellectual diability, facial asymmetry, CCA, cortical atrophy, seizures, hypergonadotropic hypogonadism, thyroid dysplasia 1 1 Johan den Dunnen
00172912 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172913 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00183179 25644381-FamD60 PubMed: Hu 2016 family, 8 affected, 4 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX mild to moderate ID, mild facial features 1 8 Johan den Dunnen
00385982 167926 - - M ? Germany - - 0 - - MRX103 Global developmental delay, Delayed speech and language development, Strabismus, Microcephaly, Constipation, Decreased small intestinal mucosa lactase level, Equinus calcaneus 1 1 Andreas Laner
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