All individuals with variants in gene ZDHHC9

21 entries on 1 page. Showing entries 1 - 21.
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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 Fam13 PubMed: Tzschach 2015 family, 4 affected males M - Turkey ? - 0 - - MRX;IDX moderate intellectual disability, normal body measurements; 10y-surgery for left-sided ureteropelvic junction obstruction, postoperative keloid; mild cutaneous syndactyly 2nd and 3rd toes, no malformations, no significant dysmorphic signs; 3 maternal aunt cousins similar phenotype, strabismus (1/4) 1 4 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
00394439 - - - M no Brazil - - - - - MRXSR intellectual disability, short stature 1 1 Juliana Mazzeu
00394791 Fam152 PubMed: Raymond 2007 3-generation family, 3 affected males, unaffected heterozygous carrier mother M - - - - 0 - - ID see paper; ... 1 3 Johan den Dunnen
00394792 Fam502 PubMed: Raymond 2007 2-generation family, 2 affected males, unaffected heterozygous carrier mother M - - - - 0 - - ID see paper; ... 1 2 Johan den Dunnen
00394793 Fam031 PubMed: Raymond 2007 2-generation family, 2 affected males, unaffected heterozygous carrier mother M - - - - 0 - - ID see paper; ... 1 2 Johan den Dunnen
00394794 Fam576 PubMed: Raymond 2007 4-generation family, 4 affected males, 3 unaffected heterozygous carrier females M - - - - 0 - - ID see paper; ... 1 4 Johan den Dunnen
00394795 DECIPHER:273862-Pat4 PubMed: Schirwani 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - 0 - - ID see paper; ..., macrocephaly, frontal bossing, frontal upsweep hair, deep-set eyes, underfolded helices, long nose, mild-moderate impaired intellectual development, delayed speech, significant obsessive behavior, autism spectrum disorder, sleep problems, thin corpus callosum 1 1 Johan den Dunnen
00394796 Fam1PatIII3/Iv3/IV4 PubMed: Schirwani 2018 4-generation family, 3 affected, 2 unaffected heterozygous females M - - - - 0 - - ID see paper; ... 1 3 Johan den Dunnen
00394814 patient PubMed: Han 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea - - 0 - - ID see paper; ..., global developmental delay, no facial dysmorphism, no skeletal abnormalities, hypotonia 1 1 Johan den Dunnen
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