All individuals with variants in gene GLI2

11 entries on 1 page. Showing entries 1 - 11.
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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
00050717 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents F - United Kingdom (Great Britain) - - 0 Decipher - ? low-set ears, epicanthus, micrognathia, 2-3 toe syndactyly, muscular hypotonia, thin lips, almond-shaped palpebral fissure, global developmental delay 1 2 Johan den Dunnen
00181199 73704 - - F - - - - 0 - - EE - 1 1 Anaïs Begemann
00292236 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00292237 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 15 Mohammed Faruq
00292238 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 91 Mohammed Faruq
00292239 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 13 Mohammed Faruq
00292240 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 87 Mohammed Faruq
00303023 Pat68 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset unknown 1 1 Johan den Dunnen
00304685 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304686 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
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