All individuals with variants in gene GTPBP3

18 entries on 1 page. Showing entries 1 - 18.
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00305941 40 - - F - China - - - - - COXPD23 - 2 1 Sha Hong
00410357 Pat1 PubMed: Yan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - China - - - - - COXPD see paper; ... 2 1 Johan den Dunnen
00410358 Pat2 PubMed: Yan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - COXPD see paper; ... 2 1 Johan den Dunnen
00410359 Pat3 PubMed: Yan 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - COXPD see paper; ... 2 1 Johan den Dunnen
00410360 patient PubMed: Wang 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - COXPD see paper; ..., hypertrophic cardiomyopathy, hyperlactatemia 2 1 Johan den Dunnen
00410418 49665 PubMed: Kopajtich 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes United Arab Emirates - - - - - ? see paper; ..., hypertrophic cardiomyopathy, mild intellectual disability, fatigability, limited vision, lactic acidosis 2 2 Johan den Dunnen
00410419 36349 PubMed: Kopajtich 2014 brother M yes United Arab Emirates - - - - - ? see paper; ..., mild intellectual disability, fatigability, limited vision, lactic acidosis 2 1 Johan den Dunnen
00410420 66143 PubMed: Kopajtich 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Israel Arab;Moslem - - - - ? see paper; ..., hypertrophic cardiomyopathy, sudden respiratory failure, lactic acidosis 2 1 Johan den Dunnen
00410421 72425 PubMed: Kopajtich 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - 8m - - - ? see paper; ..., 8m-deceased, dilated cardiomyopathy, cyanosis, hyporeactivity, dilated cardiomyopathy (residual ejection fraction 0.20) lactic acidosis 3 1 Johan den Dunnen
00410422 75191 PubMed: Kopajtich 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - 1d - - - ? see paper; ..., 1d-deceased, hypertrophic cardiomyopathy, Kussmaul breathing, stridor, hypotonic, hyporeactivity, right ventricular hypertrophy, lactid acidosis 1 1 Johan den Dunnen
00410423 76671 PubMed: Kopajtich 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - 10m - - - ? see paper; ..., 10m-deceased, hypertrophic cardiomyopathy, hypotonia from birth, right ventricular hypertrophy, Wolff-Parkinson-White syndrome, lactic acidosis 1 1 Johan den Dunnen
00410424 81471 PubMed: Kopajtich 2014 2-generation family, 1 affected, two healthy siblings, one miscarriage, unaffected heterozygous carrier parents M yes Romania - 35d - - - ? see paper; ..., 5w-deceased, hypertrophic cardiomyopathy, failure to thrive, poor weight gain and feeding, concentric left ventricular hypertrophy, lactic acidosis 1 1 Johan den Dunnen
00410425 75168 PubMed: Kopajtich 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - ? see paper; ..., no hypertrophic cardiomyopathy, developmental delay, epileptic seizures, intellectual disability, MRI hyperintense lesions of basal ganglia typical to Leigh syndrome, lactic acidosis 1 1 Johan den Dunnen
00410426 82790 PubMed: Kopajtich 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - ? see paper; ..., no hypertrophic cardiomyopathy, seizures, severe hypotonia, developmental delay, lactic acidosis 2 1 Johan den Dunnen
00410427 83904 PubMed: Kopajtich 2014 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - 9m - - - ? see paper; ..., 9m-deceased, hypertrophic cardiomyopathy, lactic acidosis, Wolff-Parkinson-White syndrome 1 2 Johan den Dunnen
00410428 83905 PubMed: Kopajtich 2014 sister F yes Turkey - 10d - - - ? see paper; ..., 10d-deceased, hypertrophic cardiomyopathy, lactic acidosis, Wolff-Parkinson-White syndrome 1 1 Johan den Dunnen
00410429 66654 PubMed: Kopajtich 2014 - F no - - - - - - ? see paper; ..., no hypertrophic cardiomyopathy, intrauterine growth retardation, lactic acidosis, leukodystrophy, generalized hypotonia 2 1 Johan den Dunnen
00467640 Pat24 PubMed: Elmas 2019 family, 3 affected 2F, M), unaffected heterozygous carrier parents F yes Turkey - - - - - ? see paper; ..., neurological disorders; mental motor retardation, seizure, spasticity in lower extremities, severe learning disability, thrombocytopenia; MRI delayed myelination; no cardiac anomalies 1 2 Johan den Dunnen
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