All individuals with variants in gene DLG3

16 entries on 1 page. Showing entries 1 - 16.
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00000029 - PubMed: Almomani 2011 - - - - - - - - - - - 2 1 Global Variome, with Curator vacancy
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) 13 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) 10 1 Yu Sun
00016952 19377120-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016953 19377121-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00017021 Pat15 PubMed: Tzschach 2015 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - ? - - - - MRX;IDX mild-moderate intellectual disability, 3y-seizures, no malformations, no facial dysmorphism, MRI brain normal 1 1 Andreas Tzschach
00058821 - PubMed: Kumar 2016, Journal: Kumar 2016 6-generation family with mutliple affected M no Australia - - - - - MRX;IDX The individual had non-syndromic X-linked intellectual disability with no observable clinical features noted 1 10 Thuong Ha
00183099 25644381-FamP130 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00183148 25644381-FamN31 PubMed: Hu 2016 family, 6 affected, 2 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 6 Johan den Dunnen
00183149 FamD172 PubMed: Philips 2014, PubMed: Hu 2016 5-generation family, 3 affected, 3 unaffected heterozygous carrier females M - Finland - - - - - MRX;IDX - 1 3 Johan den Dunnen
00183150 FamD301 PubMed: Philips 2014, PubMed: Hu 2016 5-generation family, 5 affected, 5 unaffected heterozygous carrier females M - Finland - - - - - MRX;IDX - 1 5 Johan den Dunnen
00269888 - - - ? - - - - - - - ? Global developmental delay (HP:0001263); Macrocephaly (HP:0000256); Hypertrichosis (HP:0000998) 1 1 IMGAG
00289308 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Behavioral abnormality (HP:0000708); Aggressive behavior (HP:0000718); Delayed speech and language development (HP:0000750) 1 1 IMGAG
00303962 - - - F - - - - - - - ? Delayed speech and language development (HP:0000750); Specific learning disability (HP:0001328); Cognitive impairment (HP:0100543) 1 1 IMGAG
00403864 TF042_1 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders; family, 2 affected sibs M - Jordan - - - - - NDD macrocephaly, delayed motor development, moderate intellectual disability 1 2 Johan den Dunnen
00419583 8068 PubMed: Marinakis 2021 2-generation family, patient with carrier mother M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
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