All individuals with variants in gene FTSJ1

15 entries on 1 page. Showing entries 1 - 15.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 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
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 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) 2 1 Yu Sun
00046590 19377190-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00046591 19377191-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00046592 FamPatIII PubMed: Guy 2015, Journal: Guy 2015 4-generation family, 6 affected males. unaffected heterozygous carrier females M no Australia - - - - - MRX;IDX - 1 6 Marie Shaw
00176998 FamMRX44 PubMed: Freude 2004 4-generation family, 6 affected males, unaffected heterozygous carrier females M - Netherlands - - - - - MRX;IDX mild to moderate mental retardation 1 6 Johan den Dunnen
00176999 FamP48 PubMed: Freude 2004 4-generation family, 2 affected males, unaffected heterozygous carrier females M - - - - - - - MRX;IDX see paper; ... 1 2 Johan den Dunnen
00177000 FamA3 PubMed: Freude 2004 2-generation family, 6 affected males, unaffected heterozygous carrier females M - - - - - - - MRX;IDX see paper; ... 1 6 Johan den Dunnen
00177001 15342698-Fam PubMed: Ramser 2004 2-generation family, 7 affected males, unaffected heterozygous carrier females M - Belgium - - - - - MRX;IDX see paper; ..., mild to severe non-syndromic X linked mental retardation 1 7 Johan den Dunnen
00183090 17333282-Fam PubMed: Froyen 2007 2-generation family, 3 affected brothers, unaffected heterozygous carrier mother M no Germany - - - - - ID see paper; ..., moderate to severe mental retardation, no dysmorphic features. 1 3 Johan den Dunnen
00183100 FamD46 PubMed: Hu 2016 family, 3 affected, 2 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 3 Johan den Dunnen
00183152 25644381-FamAU55 PubMed: Hu 2016 family, 2 affected, 5 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00386941 187140 - - F no Germany - - - - - XLID9;MRX9 Neurodevelopmental delay, Muscular hypotonia, Dystonia, Foot dorsiflexor weakness, Abnormal putamen morphology, Abnormality of the cerebral white matter, Hydrocephalus, Abnormality of the midface 1 1 Andreas Laner
00465307 FamMRW06PatIV7 PubMed: Takano 2008 4-generation family, 6 affected males, unaffected carrier females M - Japan - - - - - ID see paper; ..., 1 6 Johan den Dunnen
00465862 private email contact me for details on behalf of parent M - Spain - - - - - ID intellectual disability, some behavioral disorders, happy, cheerful 1 1 Johan den Dunnen
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