All individuals with variants in gene ATP1A3

159 entries on 2 pages. Showing entries 1 - 100.
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00001573 - - - - - China Chinese - 0 - - AHC - 1 7 Yangxiaoling
00050531 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child M - United Kingdom (Great Britain) - - 0 Decipher - ? choreoathetosis, dystonia, abnormality of hair texture, abnormality of hair pigmentation, pectus excavatum, functional respiratory abnormality 1 2 Johan den Dunnen
00050676 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? specific learning disability, progressive cerebellar ataxia, aplasia/hypoplasia of the cerebellum, abnormal joint morphology, microcephaly 1 1 Johan den Dunnen
00080942 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - CAPOS CAPOS syndrome (OMIM:601338) 1 1 Daniel Trujillano
00155754 A06503 - - M yes China Chinese 15y 0 - flunarizine + AHC1 The patient had the first hemiplegia at 3 months of age. He had abnormal eye movement, dystonia, quadrplegia and seizure. The hemiplegia duration ranges from several hours to six days. On average he has four hemiplegia per month. 1 1 Xiaoxu Yang
00155755 A06603 - - M yes China Chinese 04y 0 - flunarizine + AHC1 The patient had the first symptom on set at the age of 5.5m, his first hemiplegia starts at the age of 8m, the duration rangers from 1 to 2 days, he has abnormal eye movemetn and dystonia. 1 1 Xiaoxu Yang
00155756 A06703 - - M yes China Chinese 04y 0 - - AHC Abnormal eye movement, dystonia, automatic dysfunction, development delay. 1 1 Xiaoxu Yang
00155757 A07303 - - F yes China Chinese 04y 0 - flunarizine + AHC1 Abnormal eye movement, quadriplegia, dystonia, ataxia, epilepsy, and developmental delay 1 1 Xiaoxu Yang
00155758 A07403 - - M - China Chinese 03y 0 - flunarizine + AHC1 Abnormal eye movement, quadriplegia, respiritary disturbance, and developmental delay 1 1 Xiaoxu Yang
00155759 A07903 - - F yes China Chinese 03y 0 - - AHC1 Abnormal eye movement, quadriplegia, dystonia, epilepsy, dysarthria, and developmental delay 1 1 Xiaoxu Yang
00155760 A08003 - - M yes China Chinese 03y 0 - - AHC1 Abnormal eye movement, quadriplegia, dystonia, automatic dysfunction, dysphagia, dysarthria, and slight developmental delay. 1 1 Xiaoxu Yang
00155761 A08203 - - M yes China Chinese 02y 0 - - AHC1 Dystonia, hemiplegia 1 1 Xiaoxu Yang
00155762 A08503 - - F yes China Chinese 02y 0 - - AHC1 Abnormal eye movement, dystonia, slight developmental delay 1 1 Xiaoxu Yang
00163007 A08603 - - F - China Chinese 02y 0 - - AHC1 Abnormal eye movement, dystonia, automatic dysfunction, and slight developmental delay 1 1 Xiaoxu Yang
00163008 A08703 - - M yes China Chinese 03y 0 - flunarizine - AHC1 Dystonia, Abnormal eye movement, quadriplegia, automatic dysfunction, dysphagia, dysarthria, and developmental delay 1 1 Xiaoxu Yang
00163009 A08903 - - M yes China Chinese 03y 0 - flunarizine - AHC1 Dystonia, Abnormal eye movement, and slight developmental delay 1 1 Xiaoxu Yang
00163010 A09103 - - M yes China Chinese 03y 0 - flunarizine - AHC1 dystonia, Abnormal eye movement, automatic dysfunction, dysphagia, dysarthria, and developmental delay. 1 1 Xiaoxu Yang
00163011 A09303 - - M yes China Chinese 05y 0 - - AHC1 Abnormal eye movement, Dystonia, quadriplegia, automatic dysfunction, dysphagia, dysarthria, ataxia, and developmental delay. 1 1 Xiaoxu Yang
00163012 A09403 - - F yes China Chinese 02y 0 - - AHC1 Abnormal eye movement, dystonia, epilepsy, and developmental delay. 1 1 Xiaoxu Yang
00163013 A09503 - - F yes China Chinese 01y 0 - - AHC1 Dystonia, Abnormal eye movement, quadriplegia, and slight developmental delay 1 1 Xiaoxu Yang
00163014 A09603 - - F yes China Chinese 03y 0 - - AHC1 Dystonia, Abnormal eye movement, quadriplegia, and slight developmental delay 1 1 Xiaoxu Yang
00163015 A09703 - - M yes China Chinese 01y 0 - - AHC1 Dystonia, Abnormal eye movement, automatic dysfunction, dysphagia, respiritary disturbance, and slight developmental delay 1 1 Xiaoxu Yang
00163016 A09803 - - F yes China Chinese 14y 0 - - AHC2 Abnormal eye movement, quadriplegia, dysphagia, and slight developmental delay 1 1 Xiaoxu Yang
00163017 A10003 - - M yes China Chinese 03y 0 - flunarizine - AHC1 Dystonia, Abnormal eye movement, automatic dysfunction, dysphagia, dysarthria, and slight developmental delay 1 1 Xiaoxu Yang
00163018 A10103 - - F yes China Chinese 01y 0 - - AHC1 Abnormal eye movement, quadrplegia, epilepsy, and slight developmental delay. 1 1 Xiaoxu Yang
00163019 A10203 - - M yes China Chinese - 0 - - AHC Abnormal eye movement, quadriplegia, dystonia, dysphagia, dysarthria, choreoathetosis, and severe developmental delay 1 1 Xiaoxu Yang
00163020 A10503 - - M yes China Chinese 01y 0 - - AHC1 Dystonia, Abnormal eye movement, respiritary disturbance, and slight developmental delay. 1 1 Xiaoxu Yang
00163021 A10603 - - F yes China Chinese 01y 0 - - AHC1 Epilepsy, Abnormal eye movement, Dystonia, automatic dysfunction, and slight developmental delay. 1 1 Xiaoxu Yang
00163022 A10703 - - F yes China Chinese 08y 0 - - AHC1 Abnormal eye movement, quadriplegia, Dystonia, Dysphagia, Dysarthria, and slight developmental delay. 1 1 Xiaoxu Yang
00163023 A10803 - - M yes China Chinese 04y 0 - - AHC1 Dystonia, quadriplegia, and slight developmental delay. 1 1 Xiaoxu Yang
00163651 ? PubMed: Linazasoro 2002, PubMed: de Carvalho Aguiar 2004 - - - - - - 0 - - DYT - 1 1 Johan den Dunnen
00163652 ? PubMed: Zaremba 2004, PubMed: de Carvalho Aguiar 2004 - - - - - - 0 - - DYT - 1 1 Johan den Dunnen
00163653 ? PubMed: Pittock 2000, PubMed: Brashear 2007 - - - - - - 0 - - DYT - 1 1 Johan den Dunnen
00163654 ? PubMed: Dobyns 1993, PubMed: de Carvalho Aguiar 2004 - - - - - - 0 - - DYT - 1 1 Johan den Dunnen
00163655 ? PubMed: de Carvalho Aguiar 2004 - - - - - - 0 - - DYT - 1 1 Johan den Dunnen
00163656 ? PubMed: Brashear 1997, PubMed: de Carvalho Aguiar 2004 - - - - - - 0 - - DYT - 1 1 Johan den Dunnen
00163657 ? PubMed: de Carvalho Aguiar 2004 - - - - - - 0 - - DYT - 1 1 Johan den Dunnen
00163658 ? PubMed: de Carvalho Aguiar 2004 - - - - - - 0 - - DYT - 1 1 Johan den Dunnen
00163659 ? PubMed: Tarsy 2010 - - - - Africa Caribbean - 0 - - DYT - 1 1 Johan den Dunnen
00163660 ? PubMed: Kamm 2008 - - - - - - 0 - - DYT - 1 1 Johan den Dunnen
00163661 ? PubMed: Svetel 2010 - - - - - - 0 - - DYT - 1 1 Johan den Dunnen
00163662 ? PubMed: Anselm 2009 - - - - - - 0 - - DYT - 1 1 Johan den Dunnen
00163663 ? PubMed: Blanco-Arias 2009 - - - - - - 0 - - DYT - 1 1 Johan den Dunnen
00163664 228422324-Pat PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 2 Johan den Dunnen
00163665 228422324-1 PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163666 228422324-T PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163667 228422324-CX PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163668 228422324-N PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163669 228422324-E PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163670 228422324-BT PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163671 228422324-CW PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163672 228422324-BR PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163673 228422324-Pat PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 26 Johan den Dunnen
00163674 228422324-Pat PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 6 Johan den Dunnen
00163675 228422324-BT PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163676 228422324-CX PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163677 228422324-D PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163678 228422324-F PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163679 228422324-BS PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163680 228422324-S PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163681 228422324-Pat PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 3 Johan den Dunnen
00163682 228422324-A PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163683 228422324-Pat PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 15 Johan den Dunnen
00163684 228422324-Pat PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 3 Johan den Dunnen
00163685 228422324-G PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163686 228422324-O PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163687 228422324-BV PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163688 228422324-Pat PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 5 Johan den Dunnen
00163689 228422324-Pat PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 2 Johan den Dunnen
00163690 228422324-BU PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163691 228422324-AL PubMed: Heinzen 2012 - - - - - - 0 - - AHC - 1 1 Johan den Dunnen
00163692 A02103 PubMed: Yang 2014 - F no China Han - 0 - - AHC - 1 1 Gao Hua
00163693 A01903 PubMed: Yang 2014 - F no China Han - 0 - - AHC - 1 1 Gao Hua
00163694 A03203 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163695 A01403 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163696 A02603 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163697 A00603 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163698 A03603 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163699 A01103 PubMed: Yang 2014 - F no China Han - 0 - - AHC - 1 1 Gao Hua
00163700 A02003 PubMed: Yang 2014 - F no China Han - 0 - - AHC - 1 1 Gao Hua
00163701 A02403 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163702 A02203 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163703 A02503 PubMed: Yang 2014 - F no China Han - 0 - - AHC - 1 1 Gao Hua
00163704 A03103 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163705 A04203 PubMed: Yang 2014 - F no China Han - 0 - - AHC - 1 1 Gao Hua
00163706 A03503 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163707 A02803 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163708 A03703 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163709 A03903 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163710 A04603 PubMed: Yang 2014 - F no China Han - 0 - - AHC - 1 1 Gao Hua
00163711 A00303 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163712 A00403 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163713 A00703 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163714 A00503 PubMed: Yang 2014 - F no China Han - 0 - - AHC - 1 1 Gao Hua
00163715 A01303 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163716 A01503 PubMed: Yang 2014 - F no China Han - 0 - - AHC - 1 1 Gao Hua
00163717 A03303 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163718 A04003 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163719 A02303 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
00163720 A04103 PubMed: Yang 2014 - M no China Han - 0 - - AHC - 1 1 Gao Hua
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