All individuals with variants in gene ARG1

132 entries on 2 pages. Showing entries 1 - 100.
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Population     

Age at death     

VIP     

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Disease     

Phenotype details     

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00108469 - PubMed: Uchino 1995 3 related patients - - Puerto Rico - - 0 - - argininemia response dietary therapy good 2 3 Johan den Dunnen
00108470 - - - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00108471 - PubMed: Uchino 1995 - - - Canada French - 0 - - argininemia response dietary therapy slow 2 1 Johan den Dunnen
00108472 - PubMed: Uchino 1995 - - yes Canada French - 0 - - argininemia response dietary therapy good 1 1 Johan den Dunnen
00108473 - PubMed: Cardoso 1999 unrelated patients - - Portugal - - 0 - - argininemia - 1 1 Johan den Dunnen
00108474 - PubMed: Cardoso 1999 unrelated patients - - Portugal - - 0 - - argininemia - 1 1 Johan den Dunnen
00108475 - PubMed: Cardoso 1999 unrelated patients - - Portugal - - 0 - - argininemia - 1 1 Johan den Dunnen
00108476 - PubMed: Cardoso 1999 unrelated patients - - Portugal - - 0 - - argininemia - 1 1 Johan den Dunnen
00108477 - - - - - United States - - 0 - - ? - 1 1 Johan den Dunnen
00108478 patient PubMed: Haraguchi 1990 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - 0 - - argininemia mental retardation, microcephaly, spastic tetraplegia, intermittent convulsions 2 1 Johan den Dunnen
00108479 - - - - - United States - - 0 - - ? - 1 5 Johan den Dunnen
00108480 - - - - - United States - - 0 - - ? - 1 5 Johan den Dunnen
00108481 - PubMed: Uchino 1992 - - - Japan - - 0 - - argininemia psychomotor retardation and spastic tetraplegia 2 1 Johan den Dunnen
00108482 - PubMed: Uchino 1995 - - yes Pakistan - - 0 - - argininemia response dietary therapy good 1 1 Johan den Dunnen
00108483 - - - - - United States - - 0 - - ? - 1 1 Johan den Dunnen
00108484 - PubMed: Uchino 1992 - - - Japan - - 0 - - argininemia psychomotor retardation and spastic tetraplegia 1 1 Johan den Dunnen
00108485 patient PubMed: Uchino 1992 - - - Japan - - 0 - - argininemia - 1 1 Johan den Dunnen
00108486 patient PubMed: Grody 1992 - - - (United States) - - 0 - - argininemia - 1 1 Johan den Dunnen
00108487 patient PubMed: Grody 1992 - - - (United States) - - 0 - - argininemia - 1 1 Johan den Dunnen
00248295 Fam13 PubMed: Häberle and Koch 2004 prenatal diagnosis, fetus not affected - - Turkey - - 0 - - AIS see paper; … 2 1 Johan den Dunnen
00404547 PatMO PubMed: Vockley 1994 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - 0 - - argininemia - 1 1 Johan den Dunnen
00404548 PatBR PubMed: Vockley 1994 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - 0 - - argininemia - 1 1 Johan den Dunnen
00404566 PatMU/RH PubMed: Vockley 1994 family, 2 affected sibs - - United States - - 0 - - argininemia - 1 2 Johan den Dunnen
00404567 PatDC PubMed: Vockley 1994 individual from incestuous union - yes Mexico - - 0 - - argininemia - 1 1 Johan den Dunnen
00404568 - PubMed: Vockley 1994 - - - United States - - 0 - - Healthy/Control - 1 3 Johan den Dunnen
00404569 PatTD PubMed: Klein 1991 - - - United States - - 0 - - argininemia - 1 1 Johan den Dunnen
00404570 family PubMed: Vockley 1996 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no United States - - 0 - - argininemia - 1 1 Johan den Dunnen
00404571 patient PubMed: Vockley 1996 - - - United States - - 0 - - argininemia - 1 1 Johan den Dunnen
00404573 - PubMed: Dumont 2007 association study - - France - - 0 - - ? - 1 1 Johan den Dunnen
00404574 patient PubMed: Edwards 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Hispanic - 0 - - argininemia see paper; ... 2 1 Johan den Dunnen
00404575 family PubMed: Hertecant 2009 family, 3 affected children, unaffected heterozygous carrier parents - - United Arab Emirates Pakistan - 0 - - argininemia - 1 3 Johan den Dunnen
00404576 patient PubMed: Lee 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea - - 0 - - argininemia see paper; ..., argininemia, progressive spastic diplegia 2 1 Johan den Dunnen
00404577 Pat8 PubMed: Jain-Ghai 2011 2-generation family, 1 affected, unaffected heterozygous carrier first cousin parents M yes Iraq - - 0 - - argininemia see paper; ..., 6w-lethargy, poor feeding, severe encephalopathy caused by hyperammonemia; cerebral edema, seizures, spasticity, mild developmental delay 1 1 Johan den Dunnen
00404578 FamPat2 PubMed: Jain-Ghai 2011 2-generation family, 3 affected sibs, unaffected parents F - Canada - - 0 - - argininemia see paper; ..., learning difficulties, spastic diplegia, controlled seizures,mild recurrent hyperammonemic episodes 1 3 Johan den Dunnen
00404579 FamPat3 PubMed: Jain-Ghai 2011 sister F - Canada - - 0 - - argininemia see paper; ..., learning difficulties, spastic diplegia, seizures, recurrent hyperammonemic episodes 1 1 Johan den Dunnen
00404580 FamPat4 PubMed: Jain-Ghai 2011 sister F - Canada - - 0 - - argininemia see paper; ..., developmental delay, spastic diplegia, seizures, recurrent hyperammonemic episodes 1 1 Johan den Dunnen
00404581 Pat5 PubMed: Jain-Ghai 2011 - F - Canada - - 0 - - argininemia see paper; ..., severe developmental delay, spastic diplegia, no seizures, no hyperammonemic episodes 2 1 Johan den Dunnen
00404582 Pat6 PubMed: Jain-Ghai 2011 - F - Canada - - 0 - - argininemia see paper; ..., learning difficulties, spastic diplegia, no seizures, recurrent hyperammonemic episodes 1 1 Johan den Dunnen
00404583 Pat7 PubMed: Jain-Ghai 2011 - F - Canada - - 0 - - argininemia see paper; ..., learning difficulties, spastic diplegia, seizures, two hyperammonemic episodes 2 1 Johan den Dunnen
00404584 patient;Pat5 PubMed: Scholl-Burgi 2008, PubMed: Huemer 2016 - M - Austria - - 0 - - argininemia see paper; ... 2 1 Johan den Dunnen
00404585 patient PubMed: Schiff 2009 - F - France - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404586 patient PubMed: Segawa 2011 - F no Japan - - 0 - - argininemia see paper; ... 2 1 Johan den Dunnen
00404587 family PubMed: Nakajima 2021 2-generation family, 2 affected, sisters unaffected heterozygous carrier parents F - Japan - - 0 - - stature, short see paper; ..., short stature 2 2 Johan den Dunnen
00404588 patient PubMed: Cui 2020, PubMed: Cui 2021 - M - China - - 0 - - argininemia see paper; ..., spastic paraplegia, weakness bilateral lower limbs, tip-toeing gait 2 1 Johan den Dunnen
00404589 patient PubMed: Bakirtzis 2021 - M - Greece - - 0 - - argininemia see paper; ..., spastic gait, intellectual disability, seizures 1 1 Johan den Dunnen
00404590 Pat1 PubMed: Dorum 2021 - M - Turkey - - 0 - - argininemia - 1 1 Johan den Dunnen
00404591 Pat2 PubMed: Dorum 2021 - F - Turkey - - 0 - - argininemia - 1 1 Johan den Dunnen
00404592 Pat3 PubMed: Dorum 2021 - M - Turkey - - 0 - - argininemia - 1 1 Johan den Dunnen
00404593 Pat4 PubMed: Dorum 2021 - M - Turkey - - 0 - - argininemia - 1 1 Johan den Dunnen
00404594 Pat5 PubMed: Dorum 2021 - M - Turkey - - 0 - - argininemia - 1 1 Johan den Dunnen
00404595 Pat6 PubMed: Dorum 2021 - M - Turkey - - 0 - - argininemia - 1 1 Johan den Dunnen
00404596 patient PubMed: Elsayed 2020 7-generation family, affected (2F, 4M) F;M yes Sudan - - 0 - - argininemia - 1 6 Johan den Dunnen
00404599 patient PubMed: Yucel 2018 - - - Turkey - - 0 - - argininemia - 2 1 Johan den Dunnen
00404600 Pat1 PubMed: Diez-Fernandez 2018 - - - - - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404601 Pat9 PubMed: Diez-Fernandez 2018 - - - Turkey Kurdish - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404602 Pat11c PubMed: Diez-Fernandez 2018 - - - Guatemala - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404603 Pat11d PubMed: Diez-Fernandez 2018 - - - India - - 0 - - argininemia see paper; ... 2 1 Johan den Dunnen
00404604 Pat15d PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404605 Pat20 PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404606 Pat22 PubMed: Diez-Fernandez 2018 - - - - Arab - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404607 Pat25d PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404608 Pat25f PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... 2 1 Johan den Dunnen
00404609 Pat25g PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... 2 1 Johan den Dunnen
00404610 Pat25p PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404611 Pat26 PubMed: Diez-Fernandez 2018 - - - Guatemala - - 0 - - argininemia see paper; ... 2 1 Johan den Dunnen
00404612 Pat2-2e PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404613 Pat2-2f PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404614 Pat2-6b PubMed: Diez-Fernandez 2018 - - - France - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404615 Pat2-7 PubMed: Diez-Fernandez 2018 - - - India - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404616 Pat2-9a/b/c PubMed: Diez-Fernandez 2018 family, 3 affected sibs - - Turkey - - 0 - - argininemia see paper; ... 1 3 Johan den Dunnen
00404617 Pat2-12c PubMed: Diez-Fernandez 2018 - - - Guatemala - - 0 - - argininemia see paper; ... 3 1 Johan den Dunnen
00404618 Pat2-12d PubMed: Diez-Fernandez 2018 - - - Guatemala - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404619 Pat2-17 PubMed: Diez-Fernandez 2018 - - - India - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404620 Pat2-20a PubMed: Diez-Fernandez 2018 - - - India - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404621 Pat2-18b PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404622 Pat2-23 PubMed: Diez-Fernandez 2018 - - - India - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404623 Pat2-27 PubMed: Diez-Fernandez 2018 - - - Afghanistan - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404624 Pat2-32a PubMed: Diez-Fernandez 2018 - - - Algeria - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404625 Pat2-32b PubMed: Diez-Fernandez 2018 - - - Algeria - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404626 Pat2-34a PubMed: Diez-Fernandez 2018 - - - Turkey - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404627 patient PubMed: Amayreh 2014 - - - Germany Arab - 0 - - argininemia see paper; ... 2 1 Johan den Dunnen
00404628 Pat11 PubMed: Carvalho 2012 - - - Brazil - - 0 - - argininemia see paper; ... 2 1 Johan den Dunnen
00404629 Pat1 PubMed: Carvalho 2012 family, affected monozygotic twin brothers M - Brazil - - 0 - - argininemia see paper; ... 1 2 Johan den Dunnen
00404630 Pat2 PubMed: Carvalho 2012 twin M - Brazil - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404631 Pat3 PubMed: Carvalho 2012 family, 2 affected sibs M yes Brazil - - 0 - - argininemia see paper; ... 1 2 Johan den Dunnen
00404632 Pat4 PubMed: Carvalho 2012 sib M - Brazil - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404633 Pat5 PubMed: Carvalho 2012 - F - Brazil - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404634 Pat6 PubMed: Carvalho 2012 - F - Brazil - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404635 Pat7 PubMed: Carvalho 2012 - M - Brazil - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404636 Pat8 PubMed: Carvalho 2012 - M - Brazil - - 0 - - argininemia see paper; ... 2 1 Johan den Dunnen
00404637 Pat9 PubMed: Carvalho 2012 - M - Brazil - - 0 - - argininemia see paper; ... 2 1 Johan den Dunnen
00404638 Pat10 PubMed: Carvalho 2012 - F - Brazil - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404639 Pat12 PubMed: Carvalho 2012 - M - Brazil - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404640 Pat13 PubMed: Carvalho 2012 - F - Brazil - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404641 Pat14 PubMed: Carvalho 2012 - M - Brazil - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404642 Pat15 PubMed: Carvalho 2012 - M - Brazil - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404643 Pat16 PubMed: Carvalho 2012 - M - Brazil - - 0 - - argininemia see paper; ... 2 1 Johan den Dunnen
00404644 patient PubMed: Wu 2015 - - - China - - 0 - - argininemia see paper; ... 2 1 Johan den Dunnen
00404645 patient PubMed: Wu 2015 - - - China - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
00404646 Pat17 PubMed: Huemer 2016 - - - - - - 0 - - argininemia see paper; ... 1 1 Johan den Dunnen
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