All individuals with variants in gene OGT

17 entries on 1 page. Showing entries 1 - 17.
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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) 3 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
00173095 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173096 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173097 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173098 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00230994 PatET PubMed: Pravata 2020, PubMed: Pravata 2020, Journal: Pravata 2020 2-generation family, 1 affected, unaffected non-carrier parents/relatives M no Estonia - >07y - - - CDG see paper; ... 1 1 Sander Pajusalu
00302897 Fam1Patient1 PubMed: Willems 2017 2-generation family, 1 affected, unaffected non-carrier parents M yes - White >05y - - - ID Intellectual disability (HP:0001249);Neurodevelopmental delay (HP:0012758);Psychomotor retardation (HP:0025356);Behavioral abnormality (HP:0000708);Abnormal facial shape (HP:0001999);Abnormality of the genital system (HP:0000078);Amblyopia (HP:0000646);Bicuspid aortic valve (HP:0001647) 1 1 Joaquin De La Torre Vela
00302912 Fam2Patient2 PubMed: Willems 2017 4-generation family, 1 affected, unaffected carrier mother/grandmother M yes - white >05y - - - ID Intellectual disability (HP:0001249);Neurodevelopmental delay (HP:0012758);Psychomotor retardation (HP:0025356);Abnormal facial shape (HP:0001999);Abnormality of the genital system (HP:0000078);Oral motor hypotonia (HP:0030190);Astigmatism (HP:0000483);Nystagmus (HP:0000639);Hypermetropia (HP:0000540) 1 1 Joaquin De La Torre Vela
00303079 Pat121 PubMed: Helbig 2016 - - - United States - - - - - seizures Generalized epilepsy, unclassified; age onset childhood 1 1 Johan den Dunnen
00303377 FamK9427PatII-4 (P2) PubMed: Vaidyanathan 2017 4-generation family, 3 affected (M), 4 unaffected carrier females M yes United States - - - - - ID Intellectual disability (HP:0001249); Abnormality of the genital system (HP:0000078); Finger clinodactyly (HP:0040019); Microcephaly (HP:0000252); Male balding (HP:0002234) 1 3 Joaquin De La Torre Vela
00303414 FamK9427urIII-4 (P1) PubMed: Vaidyanathan 2017 - M yes United States - - - - - ID Intellectual disability (HP:0001249); Abnormality of the genital system (HP:0000078); Finger clinodactyly (HP:0040019); Microcephaly (HP:0000252); 1 1 Joaquin De La Torre Vela
00303415 FamK9427PatIV-1 PubMed: Vaidyanathan 2017 - M yes United States - - - - - ID Intellectual disability (HP:0001249); Abnormality of the genital system (HP:0000078); Finger clinodactyly (HP:0040019); Microcephaly (HP:0000252); 1 1 Joaquin De La Torre Vela
00303554 family PubMed: Bouazzi 2015 2-generation family, 3 affected brothers, heterozygous unaffected mother M - France - - - - - ID see paper; ..., severe nonsyndromic intellectual deficiency, mild dysmorphic features 1 3 Johan den Dunnen
00303555 Pat1 PubMed: Selvan 2018 3-generation family, 1 affected, unaffected carrier mother M - Germany Germany; Scandinavia - - - - ID see paper; ..., moderate intellectual disability, microcephaly, hypothyroidism, abnormal sleep pattern, nystagmus, and epilepsy 1 1 Johan den Dunnen
00303556 FamPat2/3 PubMed: Selvan 2018 4-generation family,5 affected (5M), unaffected heterozygous carrier females M - Netherlands - - - - - ID see paper; ..., 1 5 Johan den Dunnen
00303568 twins PubMed: Pravata 2019 2-generation family, 1 affected twin pair, unaffected non-carrier parents F no United Kingdom (Great Britain) - - - - - ID see paper; ..., developmental delay speech and language 1 2 Johan den Dunnen
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