All individuals with variants in gene ZDHHC9

13 entries on 1 page. Showing entries 1 - 13.
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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) 5 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) 5 1 Yu Sun
00016976 19377144-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016977 19377145-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016978 19377146-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00017020 - - - M - ? (unknown) ? - 0 - - MRX;IDX - 1 1 Andreas Tzschach
00147122 30631761-Pat46_S11 PubMed: Han 2018 - M no Korea - - 0 - - MRXSR developmental delay, no epilepsy, hypotonia 1 1 Joonhong Park
00183131 25644381-FamP148 PubMed: Hu 2016 family, 3 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 3 Johan den Dunnen
00183132 25644381-FamAU3 PubMed: Hu 2016 family, 5 affected, 3 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 5 Johan den Dunnen
00307786 UK10K_FINDWGA5410775 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
00307787 UK10K_FINDWGA5410704 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
00307820 UK10K_FINDWGA5411590 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
00307983 14DG2158 PubMed: Anazi 2017 familial M - - - - 0 - - ID see paper; ..., Global developmental delay, Gait ataxia, Abnormal facial shape, Macrotia, High, narrow palate, Hypertonia, Hyperreflexia 1 1 Johan den Dunnen
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