All individuals with variants in gene ST3GAL3

10 entries on 1 page. Showing entries 1 - 10.
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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) 2 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) 1 1 Yu Sun
00116804 S_1:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116821 S_133:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116998 S_525:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00155023 23252400-Fam PubMed: Edvardson 2013 4-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Israel Palestinian - 0 - - EIEE15 see paper; ..., infantile spasms flexor type mainly, appearing 3-7m, accompanied by hypsarrhythmic EEG-pattern; when grew older, seizures continued and evolved to Lennox-Gastaut syndrome; severe developmental delay evident first few months of life, predating seizure disorder 1 4 Andreas Kuss
00155024 21907012-FamM096 PubMed: Hu 2011 6-generation family, 8 affecteds (4F, 4M), unaffected heterozygous carrier parents F;M yes Iran - - 0 - - MRT12 see paper; ... 1 8 Andreas Kuss
00155026 21907012-FamM319 PubMed: Hu 2011 2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Iran - - 0 - - MRT12 see paper; ... 1 4 Andreas Kuss
00275682 ST3GAL3_AF4 PubMed: Farajollahi 2020 2-generation family, 4 affected, unaffected heterozygous carrier parents - yes Iran - 31y? 0 - - ID HP:0006579, HP:0002355, HP:0002359, HP:0000718, HP:0002355, HP:0002359, HP:0010864; severe intellectual disability (HP:0010864); mild global developmental delay (HP:0011342); speech delay (HP:0000750) 1 4 Ehsan Razmara
00374688 S-4228 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
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