All individuals with variants in gene RPS6KA3

14 entries on 1 page. Showing entries 1 - 14.
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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
00036683 - - - - - Germany - - 0 - - ? possible diagnosis of Coffin-Lowry syndrome 1 1 Andreas Laner
00036684 - - - - - Germany - - 0 - - ? clinical CLS 1 1 Andreas Laner
00036685 - - - - - Germany - - 0 - - ? suspected Coffin-Lowry syndrome, daughter is index case 1 1 Andreas Laner
00102095 P25 - - F no China - >21y - - - ID HP:0001999; HP:0002317; HP:0010819; HP:0006439; HP:0001763; HP:0004305; HP:0001537; HP:0002650; intellectual disability (HP:0001249) 1 1 Wenjuan Qiu
00172539 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172540 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172541 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00183118 25644381-FamL60 PubMed: Hu 2016 family, 3 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 3 Johan den Dunnen
00183119 25644381-FamD64 PubMed: Hu 2016 family, 1 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00183661 27620904-Pat06 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - 0 - - ID - 1 1 Johan den Dunnen
00295012 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00315006 GDB1506 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - 0 - - ? - 1 1 Johan den Dunnen
00374827 S-6023 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
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