All individuals with variants in gene GRIA1

11 entries on 1 page. Showing entries 1 - 11.
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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) 2 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) 1 1 Yu Sun
00183043 Trio02;Pat2 PubMed: de Ligt 2012, PubMed: Ismail 2022 - F - Netherlands - - - - - ID see paper; …, severe Intellectual disability; no speech; 12m-sit; 12m-walk; unspecified behavioral problems; MRI brain normal; mild upslanting palpebral fissures; OFC 50cm, weight 26kg, height 118cm 1 1 Johan den Dunnen
00266192 Pat4 PubMed: Yan 2019 2-generation family, 1 affected, unaffected non-carrier parents M no China - - - - - ? 1d-nystagmus, resolved 14m; 36m-walk, delayed language development, myopia; bilateral Babinski sign, unclear pronunciation; abnormal brain-stem auditory evoked potential and visual evoked potential 1 1 Johan den Dunnen
00412888 Pat1 PubMed: Ismail 2022 - F - - - - - - - NDD severe Intellectual disability; no speech; 14m-walk; epilepsy; EEG frequent interictal epileptiform discharges with spikes/spike over posterior regions; tip-toe walking; self-injurious behavior; MRI brain normal; poor sleep requiring melatonin; left intermittent divergent squint; no dysmorphic features; >6y-precocious puberty; OFC 49cm, weight 31 kg, height 140.5cm 1 1 Johan den Dunnen
00412889 Pat3 PubMed: Ismail 2022 - M - - - - - - - NDD severe Intellectual disability; no speech; 5m-sit, 18m-walk; no epilepsy; attention deficit hyperactivity disorder, autism spectrum disorder; MRI brain normal; poor sleep requiring melatonin; possible squint, no vision anomalies diagnosed; broad forehead, telecanthus; OFC 53cm; weight 21kg, height 107.3cm 1 1 Johan den Dunnen
00412890 Pat4 PubMed: Ismail 2022 - F - - - - - - - NDD moderate Intellectual disability; speech language difficult to understand; 17m-walk; no epilepsy; attention deficit hyperactivity disorder; MRI brain normal; normal sleep; hypermetropia, astigmatism, 11m-glasses; no dysmorphic features 1 1 Johan den Dunnen
00412891 Pat5 PubMed: Ismail 2022 - M - - - - - - - NDD Intellectual disability; no epilepsy; unspecified behavioral problems; MRI brain normal; normal sleep; flushed cheeks/ears, high arched palate; bicuspid aortic valve;weight 60kg, height 149cm 1 1 Johan den Dunnen
00412892 Pat6 PubMed: Ismail 2022 - F - - - - - - - NDD moderate Intellectual disability; speech simple verbal language; 13m-walk, delayed fine motor skills, coordination issues; no epilepsy; EEG normal; dystonia, catatonia; anxiety, anger tantrums, autism spectrum disorder; MRI brain normal; poor sleep; normal vision; no dysmorphic features; hypothyroidism polycystic ovarian syndrome; wieght 54kg, height 157.5cm 1 1 Johan den Dunnen
00412893 Pat7 PubMed: Ismail 2022 - - - - - - - - - NDD intellectual disability; no epilepsy 1 1 Johan den Dunnen
00466206 334573 - - M - Germany - - - - - MRD67 Intellectual disability, mild, Attention deficit hyperactivity disorder 1 1 Andreas Laner
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