All individuals with variants in gene PDHA1

33 entries on 1 page. Showing entries 1 - 33.
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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
00032713 - - - M no Spain - - 0 - - PDHAD - 1 1 Claudio Asencio Salcedo
00036487 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036488 - - - - - Germany - - 0 - - ? ataxia, defect of complex-II, lactate acidosis 1 1 Andreas Laner
00036489 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036490 - - - - - Germany - - 0 - - ? MELAS 1 1 Andreas Laner
00036491 - - - - - Germany - - 0 - - ? MELAS 1 1 Andreas Laner
00036492 - - - - - Germany - - 0 - - ? mitochondrial cytopathy 1 1 Andreas Laner
00080896 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - PDHAD Pyruvate dehydrogenase E1-alpha deficiency (OMIM:312170) 1 1 Daniel Trujillano
00100792 26931468-Pat2 PubMed: Chao 2016, Journal: Chao 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United States - 00y10m 0 - - EE see paper; born 37w3d, pregnancy complicated by intrauterine growth restriction, hydrocephalus; 4d persistent lactic acidosis; died 10 m from pneumonia; .... 1 1 Johan den Dunnen
00172306 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00172307 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173327 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 6 Lucy Raymond
00173571 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00180172 29286531-Pat24 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - ? (Pharmacoresistant severe) epileptic encephalopathy (HP:0200134), cerebral palsy (HP:0100021), profound global developmental delay (HP:0012736), microcephaly (HP:0000252). Head MRI: cerebral atrophy (HP:0002283). 1 1 Johan den Dunnen
00183062 23033978-Trio59 PubMed: de Ligt 2012 - F - Netherlands - - 0 - - ID see paper; … 1 1 Johan den Dunnen
00271471 - - - - - Saudi Arabia Arab - 0 - - ADHD - 1 1 Nada Al Tassan
00274153 Pat19 PubMed: Pronicka 2016 - M - Poland - - 0 - - ? mitochondrial disease criteria score 5; muscle biopsy 1 1 Johan den Dunnen
00274184 Pat56 PubMed: Pronicka 2016 no family history F - Poland - - 0 - - ? mitochondrial disease criteria score 4 1 1 Johan den Dunnen
00274192 Pat66 PubMed: Pronicka 2016 - F - Poland - - 0 - - ? neonatal onset; mitochondrial disease criteria score 5; muscle biopsy 1 1 Johan den Dunnen
00274194 Pat68 PubMed: Pronicka 2016 no family history M - Poland - - 0 - - ? involvement basal ganglia; mitochondrial disease criteria score 4; muscle biopsy 1 1 Johan den Dunnen
00276051 - - - F - - - - 0 - - ? Global developmental delay (HP:0001263); Epileptic encephalopathy (HP:0200134); Seizures (HP:0001250); Microcephaly (HP:0000252); Hearing impairment (HP:0000365); Ventriculomegaly (HP:0002119); Agenesis of corpus callosum (HP:0001274); Periventricular leukomalacia (HP:0006970) 1 1 IMGAG
00295011 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 46 Mohammed Faruq
00295905 - - - F - - - - 0 - - ? Increased serum lactate (HP:0002151); Brain atrophy (HP:0012444); Seizures (HP:0001250); Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Hyperalaninemia (HP:0003348) 1 1 Andreas Laner
00295931 - - - M - - - - 0 - - ? Episodic ataxia (HP:0002131) 1 1 Andreas Laner
00305289 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 19 Mohammed Faruq
00306238 - - - F no China Chinese - - - - PDHAD - 1 1 Yan Cai
00314866 Trio24 PubMed: Zhu 2015 - M - Israel - - 0 - - ? Leigh-like features, pallidum necrosis. 1 1 Johan den Dunnen
00373720 iw138 - - F no China Chinese - - - - PDHAD HP:0001252; HP:0001250; HP:0025336; HP:0032989; HP:0001270; HP:0012766 1 1 Wenjuan Qiu
00374436 S-4592 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Cerebellar ataxia, repetitive eye movements, developmental delay, trouble eating and performing fine motor movements 1 1 Johan den Dunnen
00374802 S-3955 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00375528 180764 - - F no Germany - - 0 - - PDHAD Hydrocephalus, Morphological central nervous system abnormality, EEG abnormality, Congenital lactic acidosis 1 1 Andreas Laner
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