All individuals with variants in gene GRIA3

19 entries on 1 page. Showing entries 1 - 19.
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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) 12 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) 13 1 Yu Sun
00146558 - - - ? - (Germany) - - - - - ? HP:0001249 (Intellectual disability) 1 1 IMGAG
00173286 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 110 Lucy Raymond
00173574 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00183102 25644381-FamN21 PubMed: Hu 2016 family, 5 affected, 4 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 5 Johan den Dunnen
00183103 25644381-FamP176 PubMed: Hu 2016 family, 4 affected, 3 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 4 Johan den Dunnen
00183343 29016847-Fam PubMed: Davies 2017 2-generation family, 2 affected brothers, unaffected heterozygous carriermother M no United Kingdom (Great Britain) - - - - - ? see paper; ..., intellectual disability, severe developmental delay, dramatically disturbed sleep-wake cycle (wake/sleep durations up to 106-h awak/48-h asleep) 1 2 Johan den Dunnen
00183344 17989220-FamA PubMed: Wu 2007 3-generation family, 3 affected males, 3 unaffected heterozygous carrier females M no - - - - - - MRX;IDX see paper; ... 1 3 Johan den Dunnen
00183345 17989220-FamB PubMed: Wu 2007 4-generation family, 2 affected males, 7 unaffected heterozygous carrier females M no - - - - - - MRX;IDX see paper; ... 1 2 Johan den Dunnen
00183346 17989220-FamC PubMed: Wu 2007 3-generation family, 4 affected males, 2 unaffected heterozygous carrier females M no - - - - - - MRX;IDX see paper; ... 1 4 Johan den Dunnen
00183347 17989220-FamD PubMed: Wu 2007 2-generation family, 1 affected, unaffected heterozygous carrier mother M no - - - - - - MRX;IDX see paper; ... 1 1 Johan den Dunnen
00183348 17989220-Pat PubMed: Wu 2007 - M no - - - - - - MRX;IDX - 1 1 Johan den Dunnen
00183349 FamD174 PubMed: Philips 2014 4-generation family, 3 affected males, 2 unaffected heterozygous carrier females M no Finland - - - - - MRX;IDX see paper; ..., severe ID with autistic features, epilepsy, short stature, behavioral problems incl. self injury and aggressive outbursts 1 3 Johan den Dunnen
00307795 UK10K_FINDWGA5411367 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00391863 031P - - M no Spain - - - - - ID, MRX1, MRX94 - 1 1 Alejandro Brea-Fernández
00392039 202P - - F no Spain - - - - - ID, MRX94 - 1 1 Alejandro Brea-Fernández
00408319 PD-4009 Leonardi 2022, submitted diagnosed by Movement Disorders Unit, Dept. of Neuroscience, University of Padua, Padua, Italy F no (Italy) - - - - - MRXSCJ - 1 1 Emanuela Leonardi
00419451 207229 - - M no Germany - - - - - MRX94 Global developmental delay, Motor delay, Delayed speech and language development, Cognitive impairment (half brother also affected, not tested yet) 1 1 Andreas Laner
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