All individuals with variants in gene ETFDH

21 entries on 1 page. Showing entries 1 - 21.
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00035696 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035697 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035698 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035699 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035700 - - - - - Germany - - 0 - - ? progressive hyptonia und ataxia, leukodystrophy , acute dekompensation with hypoglycaemia and clouded awareness 1 1 Andreas Laner
00035701 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035702 - - - - - Germany - - 0 - - ? suspected MAD-deficiency 1 1 Andreas Laner
00035703 - - - - - Germany - - 0 - - ? rhabdomyolysis 1 1 Andreas Laner
00035704 - - - - - Germany - - 0 - - ? Chanarin-Dorfman syndrome 1 1 Andreas Laner
00035705 - - - - - Germany - - 0 - - ? hepatopathy 1 1 Andreas Laner
00035706 - - - - - Germany - - 0 - - ? MGZ #67347: carrier for ETFDH-mutation 1 1 Andreas Laner
00035707 - - - - - Germany - - 0 - - ? early childhood autism 1 1 Andreas Laner
00035708 - - - - - Germany - - 0 - - ? ETFDH-deficiency 1 1 Andreas Laner
00035710 - - - - - Germany - - 0 - - ? - 2 1 Andreas Laner
00035711 - - - - - Germany - - 0 - - ? suspected MAD-deficiency 1 1 Andreas Laner
00052039 - - - - - - - - 0 - - - - 4 1 Daojun Hong
00180982 - - - M - - - - 0 - - MADD (HP:0045045) Elevated plasma acylcarnitine levels 2 1 Maria Belen Perez Gonzalez
00181065 - - - - - - - - - - - MADD - 1 1 Maria Belen Perez Gonzalez
00230984 - - - - yes ? (unknown) - 2d 0 - - MADD severe form 1 1 Rikke Katrine Jentoft Olsen
00263297 - - - F no China Han Chinese - 0 - - MADD muscle weakness, muscular hypotonia, mild myogenic damage,myocardial damage,fatty liver 2 1 Guorui Hu
00265258 - - - F - Spain - - 0 - - MADD - 2 1 Jorge Docampo Cordeiro
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