All individuals with variants in gene ETFDH

36 entries on 1 page. Showing entries 1 - 36.
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00035696 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035697 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035698 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035699 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035700 - - - - - Germany - - - - - ? progressive hyptonia und ataxia, leukodystrophy , acute dekompensation with hypoglycaemia and clouded awareness 1 1 Andreas Laner
00035701 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035702 - - - - - Germany - - - - - ? suspected MAD-deficiency 1 1 Andreas Laner
00035703 - - - - - Germany - - - - - ? rhabdomyolysis 1 1 Andreas Laner
00035704 - - - - - Germany - - - - - ? Chanarin-Dorfman syndrome 1 1 Andreas Laner
00035705 - - - - - Germany - - - - - ? hepatopathy 1 1 Andreas Laner
00035706 - - - - - Germany - - - - - ? MGZ #67347: carrier for ETFDH-mutation 1 1 Andreas Laner
00035707 - - - - - Germany - - - - - ? early childhood autism 1 1 Andreas Laner
00035708 - - - - - Germany - - - - - ? ETFDH-deficiency 1 1 Andreas Laner
00035710 - - - - - Germany - - - - - ? - 2 1 Andreas Laner
00035711 - - - - - Germany - - - - - ? suspected MAD-deficiency 1 1 Andreas Laner
00052039 - - - - - - - - - - - - - 4 1 Daojun Hong
00180982 - - - M - - - - - - - MADD (HP:0045045) Elevated plasma acylcarnitine levels 2 1 Belen Perez
00181065 - - - - - - - - - - - MADD - 1 1 Belen Perez
00230984 - - - - yes - - 2d - - - MADD severe form 1 1 Rikke Katrine Jentoft Olsen
00263297 - - - F no China Han Chinese - - - - MADD muscle weakness, muscular hypotonia, mild myogenic damage，myocardial damage，fatty liver 2 1 Guorui Hu
00265258 - - - F - Spain - - - - - MADD - 2 1 Jorge Docampo Cordeiro
00293571 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00295639 - - - M - - - - - - - ? Myopathy (HP:0003198) 1 1 Andreas Laner
00301529 - - compound heterozygous patient, unaffected heterozygous parents F no Greece - 07y - - - MADD - 2 1 Helen Latsoudis
00314290 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 2 Johan den Dunnen
00431873 SIDS044 - - M - Switzerland Europe 00y03m - - - SIDS SIDS 1 1 Cordula Haas
00453493 patient Journal: Martino 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - MADD see paper; ..., birth 32w-urgent caesarean section due to cardiotocographic alterations in primigravida, 31w-pregnancy complicated by oligo-hydramnios, intrauterine fetal growth retardation, significantly hypotonic, weight 1470g (24th centile), length 40cm (21st centile), OFC 31cm (84th centile) 2 1 Johan den Dunnen
00453494 FamPat1 Journal: Nogueira 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Portugal - - - - - MADD see paper; ..., newborn screening 2 1 Johan den Dunnen
00453495 FamPat2 Journal: Nogueira 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Portugal - - - - - MADD see paper; ..., newborn screening 2 1 Johan den Dunnen
00453496 FamPat3 Journal: Nogueira 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Portugal - - - - - MADD see paper; ..., newborn screening 2 1 Johan den Dunnen
00453497 FamPat4 Journal: Nogueira 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Portugal - - - - - MADD see paper; ..., newborn screening 2 2 Johan den Dunnen
00453669 Pat85 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453694 Pat110 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 1 1 Johan den Dunnen
00453713 Pat140 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 2 1 Johan den Dunnen
00467349 Pat_13 PubMed: Tong 2018 patient M - China - - - - - NDD hypoglycemia, ketonuria, hyperammonemia, increased serum lactate, motor delay, exercise-induced muscle fatigue, pneumonia, dyspnea, decreased liver function, hepatomegaly 2 1 Johan den Dunnen
00467353 Pat_27 PubMed: Tong 2018 patient F - China - - - - - NDD fever, cough, palpitations, decreased achilles reflex, pneumonia, myocarditis, muscular hypotonia, hypothyroidism, decreased liver function, moderate obstructive ventilatory dysfunction 2 1 Johan den Dunnen
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