All individuals with variants in gene NDUFA1

10 entries on 1 page. Showing entries 1 - 10.
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Age at death     

VIP     

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Phenotype details     

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Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 1 1 Yu Sun
00003023 - - - - - - - - - - - ? PMR, Leigh syndrome 1 1 Marcel Nelen
00003024 - - - - - - - - - - - ? Myopathy 1 1 Marcel Nelen
00073149 - ATX46 - M - France - - 0 - - SCAR - 1 1 Claire Guissart
00172538 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 3 Lucy Raymond
00181170 68944 - - M no Switzerland - - 0 - - EE - 1 1 Anaïs Begemann
00294933 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 7 Mohammed Faruq
00303024 Pat69 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic Encephalopathy, childhood onset; age onset childhood 1 1 Johan den Dunnen
00305266 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00374614 S-5119 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
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