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00000001 - - - - - - - - This is a placeholder individual (patient) entry for enabling quick variant submission without finishing all details about an individual. Please create true individual entries as soon as possible, ideally before creating screening and variant entries. - MTCP1 - 0 1 Lishuang Shen
00000008 - - - - - - - - This is a placeholder individual (patient) entry for enabling quick variant submission without finishing all details about an individual. Please create true individual entries as soon as possible, ideally before creating screening and variant entries. 220110 AARS2, AASS, ABAT, ABCA9, ABCB10, ABCB6, ABCB7, ABCD1, ABHD5, ACAD8, ACAD9, ACADL, ACADM, ACADSB, ACADVL, ACAT1, ACSF3, ACSL4, ADCK3, AFG3L2, AGXT, AIFM2, AK2, AKR1D1, ALAS2, ALDH18A1, ALDH4A1, ALDH5A1, ALDH6A1, ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMT, APEX2, APTX, ARG1, ARMS2, ASL, ASS1, ATL1, ATM, ATP5B, ATP5C1, ATP5D, ATP5E, ATP5F1, ATP5G1, ATP5G2, ATP5G3, ATP5H, ATP5I, ATP5J, ATP5J2, ATP5L, ATP5O, ATP5S, ATP7B, ATPAF1, ATPIF1, ATXN10, ATXN7, AUH, B4GALT1, BCKDHA, BCKDHB, BRAF, BTD - 0 1 Lishuang Shen
00000012 - F Germany? Germany? Germany? ? - - A 51-year-old woman. The phenotype was characterised by a multisytemic disease presentation with myopathy, spinal ataxia, deafness, cataract and cognitive deficit. These symptoms do not fit with a distinct mitochondrial syndrome such as MELAS or MERRF, but affection of muscle and central nerve system together with inner ear is highly indicative of a mitochondrial aetiology. MELAS SYNDROME, MERRF MT-TP - 0 1 Lishuang Shen
00000013 - M - - - - - - - - AARS2 CACNA1F 1 1 Xiaowu Gai
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