All individuals with variants in gene SLC9A6

33 entries on 1 page. Showing entries 1 - 33.
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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) 4 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
00016987 19377152-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016988 19377153-Pat? PubMed: Gilfillan 2008, PubMed: Tarpey 2009 3-generation family, 2 affected males, 3 female carriers unaffected M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00016989 19377154-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016990 19377155-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 9 Lucy Raymond
00016991 19377156-Pat? PubMed: Tarpey 2009, PubMed: Christianson 1999, PubMed: Gilfillan 2008 family, 2 affected males M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00016992 19377157-Pat? PubMed: Tarpey 2009 - ? - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016995 - - - - - - (not applicable) - - 0 - - Healthy/Control - 5 1 Johan den Dunnen
00016996 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - 1 1 Birgit Neitzel
00016997 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - 1 1 Birgit Neitzel
00016998 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - 1 1 Birgit Neitzel
00016999 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - 1 1 Birgit Neitzel
00017000 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - 1 1 Birgit Neitzel
00017001 18342287-FamA PubMed: Gilfillan 2008 3-generation family, 3 affected males, 3 female carriers unaffected M - Norway ? - 0 - - MRX;IDX - 1 3 Johan den Dunnen
00017002 18342287-FamC PubMed: Gilfillan 2008 3-generation family, 3 affected males, 1 female carrier unaffected M - United Kingdom (Great Britain) ? - 0 - - MRX;IDX - 1 3 Johan den Dunnen
00017022 - - - M - ? (unknown) ? - 0 - - MRX;IDX - 1 1 Andreas Tzschach
00037149 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00050585 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? microcephaly, intellectual disability, athetosis, generalized dystonia, constipation, delayed cns myelination 1 1 Johan den Dunnen
00164629 25044251-Fam1 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - 0 - - MRX;IDX see paper; … 1 1 Johan den Dunnen
00164630 25044251-Fam2 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - 0 - - MRX;IDX see paper; … 1 1 Johan den Dunnen
00164631 25044251-Fam3 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - 0 - - MRX;IDX see paper; … 1 1 Johan den Dunnen
00164632 25044251-Fam4 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - 0 - - MRX;IDX see paper; … 1 1 Johan den Dunnen
00164633 25044251-Fam5 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - 0 - - MRX;IDX see paper; … 1 1 Johan den Dunnen
00164634 25044251-Fam6 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - 0 - - MRX;IDX see paper; … 1 1 Johan den Dunnen
00164635 25044251-Fam7 PubMed: Pescosolido 2014 2-generation family, 1 affected M no United States - - 0 - - MRX;IDX see paper; … 1 1 Johan den Dunnen
00164636 25044251-Fam8 PubMed: Pescosolido 2014 2-generation family, 2 affected males, 2 unaffected carrier females M no United States - - 0 - - MRX;IDX see paper; … 1 4 Johan den Dunnen
00164637 25044251-Fam9 PubMed: Pescosolido 2014 2-generation family, affected male, unaffected carrier mother M no United States - - 0 - - MRX;IDX see paper; … 1 2 Johan den Dunnen
00164638 25044251-Fam10 PubMed: Pescosolido 2014 2-generation family, affected male, unaffected carrier mother/sister M no United States - - 0 - - MRX;IDX see paper; … 1 3 Johan den Dunnen
00164639 25044251-Fam11 PubMed: Pescosolido 2014 2-generation family, affected male, unaffected carrier mother M no United States - - 0 - - MRX;IDX see paper; … 1 3 Johan den Dunnen
00164640 25044251-Fam12 PubMed: Pescosolido 2014 3-generation family, affected male, unaffected carrier mother M no United States - - 0 - - MRX;IDX see paper; … 1 2 Johan den Dunnen
00164641 24123876-FamW08-0135 PubMed: Schuurs-Hoeijmakers 2013 2-generation family, 2 affected brothers, unaffected carrier mother M no Netherlands - - 0 - - MRX;IDX see paper; ... 1 3 Johan den Dunnen
00183126 25644381-FamM2 PubMed: Hu 2016 family, 5 affected, 10 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 5 Johan den Dunnen
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