All individuals with variants in gene GDF1

9 entries on 1 page. Showing entries 1 - 9.
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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) 1 1 Yu Sun
00164348 Jansen et al. Patient 10 Jansen, submitted - F - - - - - - - ID Diabetes mellitus (HP:0100651); intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Lisenka Vissers
00292068 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00300277 Pt7479 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y - - - CHD, HTX , Partial anomalous pulmonary vein return, Ventricular Septal Defect, hypoplastic left ventricle, double outlet right ventricle, TGA, peripheral pulmonary artery stenosis, situs ambiguus, Asplenia, right stomach 1 2 Patrice Bouvagnet
00300278 Pt7480 PubMed: Liu 2020, Journal: Liu 2020 - F no - - 00y - - - CHD Common atrium, partial atrioventricular canal, transposition of the great arteries, pulmonary atresia 1 1 Patrice Bouvagnet
00300279 Pt7121 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y - - - CHD, HTX Left Superior Vena Cava, complete AtrioVentricular canal, pulmonary atresia, right pulmonary isomerism, asplenia, intestinal malrotation, left pancreatic head, fused midline suprarenal glands 2 1 Patrice Bouvagnet
00308757 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00412370 Fam14 PubMed: Halvardson 2016 - F - Sweden - - - - - NDD intellectual disability, epilepsy, pain sensitivity, Arnold-Chiari malformation, bulging forehead, low set ears, strabismus, curly hair, macrocephaly, scoliosis, short stature 1 1 Johan den Dunnen
00453797 BAV991 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - CHD - 1 1 Johan den Dunnen
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