All individuals with variants in gene USP9X

11 entries on 1 page. Showing entries 1 - 11.
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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) 20 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) 19 1 Yu Sun
00016889 - PubMed: Homan 2014 2-generation family, 1 affected, unaffected non-carrier parents M ? France (France) - 0 - - ID 21m: developmental delay, aggressive behavior and hypotonia. Other features included relative macrocephaly, facial dysmorphism, broad thumbs and great toes, short stature, constipation and hyperextensibility of joints and skin. 1 1 Marianne Vos (LOVD-team)
00016890 - PubMed: Homan 2014 2-generation family, 1 affected, unaffected heterozygous carrier mother/grandmother M ? United States - - 0 - - ID Prenatally: a raised maternal serum alpha-fetoprotein, intrauterine growth restriction, and an ectopic left kidney. Postnatally: feeding difficulties, hypotonia, tracheomalacia, gastro-esophageal reflux disease and developmental delay with speech development most affected. Broad thumbs, curving toe nails and short stature. 9y: ID (nonverbal, speech having regressed at 3y), obsessive and autistic behaviors, elevated testosterone and decreased, cholesterol levels, short stature 1 1 Marianne Vos (LOVD-team)
00016891 - PubMed: Homan 2014 2-generation family, 2 affected halfbrothers/uncle, unaffected heterozygous carrier mother/grandmother M ? United Kingdom (Great Britain) (British) - 0 - - ID 3/3 mild/moderate ID, 1/3 obessiveness, 1/3 autism, 3/3 hypotonia, 1 3 Marianne Vos (LOVD-team)
00016919 19377116-Pat? PubMed: Tarpey 2009 . M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 4 Lucy Raymond
00016920 19377117-Pat? PubMed: Tarpey 2009 . M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016921 19377118-Pat? PubMed: Tarpey 2009 . M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016924 - PubMed: Tarpey 2009 3-generation family, 3 affected males, 2 unaffected carrier females M no - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00180942 19377116-Pat? PubMed: Tarpey 2009 . M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00181203 - - - M no - - - 0 - - - - 1 1 Karine Poirier
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