All individuals with variants in gene AIFM1

35 entries on 1 page. Showing entries 1 - 35.
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AscendingIndividual ID     

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Age/Death     

VIP     

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Disease     

Phenotype details     

Variants     

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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
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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
00037759 19377184-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 80 Lucy Raymond
00037760 19377185-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 88 Lucy Raymond
00037761 19377186-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00037762 19377187-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00037763 - - - M - Italy - - 0 - - encephalomyopathy, mitochondrial mitochondrial encephalomyopathy 1 1 Daria Diodato
00274159 Pat25 PubMed: Pronicka 2016 no family history M - Poland - - 0 - - ? deceased; neonatal onset; mitochondrial disease criteria score 7; muscle biopsy 1 1 Johan den Dunnen
00285663 - - - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00285664 - - - - - - - - 0 - - deafness auditory neuropathy with muscle weak of lower limbs 1 1 LOVD-team, but with Curator vacancy
00285665 - - - - - - - - 0 - - deafness auditory neuropathy 1 1 LOVD-team, but with Curator vacancy
00285666 - PubMed: Cowchock 1985, PubMed: Bird 1993, PubMed: Rinaldi 2012 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00285667 - - - - - - - - 0 - - deafness auditory neuropathy 1 1 LOVD-team, but with Curator vacancy
00285668 - PubMed: Wang 2006, PubMed: Zong 2015 - - - - - - 0 - - deafness - 1 1 LOVD-team, but with Curator vacancy
00285669 - - - - - - - - 0 - - deafness auditory neuropathy 1 1 LOVD-team, but with Curator vacancy
00285670 - PubMed: Zong 2015 - - - - - - 0 - - deafness auditory neuropathy 1 1 LOVD-team, but with Curator vacancy
00285671 - PubMed: Zong 2015 - - - - - - 0 - - deafness auditory neuropathy with muscle weak of lower limbs 1 1 LOVD-team, but with Curator vacancy
00285672 - - - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00285673 - - - - - - - - 0 - - deafness auditory neuropathy 1 1 LOVD-team, but with Curator vacancy
00285674 - - - - - - - - 0 - - deafness auditory neuropathy with muscle weak of lower limbs 1 1 LOVD-team, but with Curator vacancy
00285675 - - - - - - - - 0 - - deafness auditory neuropathy 1 1 LOVD-team, but with Curator vacancy
00285676 - PubMed: Zong 2015 - - - - - - 0 - - deafness auditory neuropathy 1 1 LOVD-team, but with Curator vacancy
00285677 - PubMed: Zhu 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00285678 - PubMed: Berger 2011 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00285679 - - - - - - - - 0 - - deafness auditory neuropathy 1 1 LOVD-team, but with Curator vacancy
00285680 - - - - - - - - 0 - - deafness auditory neuropathy 1 1 LOVD-team, but with Curator vacancy
00285681 - PubMed: Zong 2015 - - - - - - 0 - - deafness - 1 1 LOVD-team, but with Curator vacancy
00285682 - PubMed: Kettwig 2015 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00285683 - PubMed: Calvo 2010 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00285684 - PubMed: Ghezzi 2010 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00285685 - - - - - - - - 0 - - deafness auditory neuropathy 1 1 LOVD-team, but with Curator vacancy
00285686 - PubMed: Febbo 2011, PubMed: Hampel 2015, PubMed: Sturgeon 2008, PubMed: Carter 2013, PubMed: Evaluation of Genomic Applications in Practice and Prevention (EGAPP Working Group. 2014, PubMed: Lindberg 2013 - - - - - - 0 - - ? - 1 1 LOVD-team, but with Curator vacancy
00285687 - - - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00285688 - - - - - - - - 0 - - deafness auditory neuropathy 1 1 LOVD-team, but with Curator vacancy
00285689 - - - - - - - - 0 - - deafness auditory neuropathy with muscle weak of lower limbs 1 1 LOVD-team, but with Curator vacancy
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