All individuals with variants in gene ABCC9

54 entries on 1 page. Showing entries 1 - 54.
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00016141 - - - ? ? Netherlands caucasian - 0 - - CMH originally diagnosed with hypertrophic cardiomyopathy 1 1 Terry Vrijenhoek
00050390 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, thick lower lip vermilion, behavioural/psychiatric abnormality, round face, generalized hirsutism, brachydactyly syndrome 1 1 Johan den Dunnen
00064737 - - - M - Denmark - 49y 0 - - SUD - 1 1 Sofie Lindgren Christiansen
00081886 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081899 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081900 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081901 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081902 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081903 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081904 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081905 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081906 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081907 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081908 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081909 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081910 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081911 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081912 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081913 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081914 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081915 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081916 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081917 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081918 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081919 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081920 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00081921 - - - - - - - - 0 - - Cantu - 1 1 Sanne Savelberg
00128406 112 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) F - Sweden - 0 - - - ? - 1 1 Ellika Sahlin
00128483 276 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) F - Sweden - 0 - - - ? - 1 1 Ellika Sahlin
00163893 - PubMed: Verhagen 2018, Journal: Verhagen 2018 3-generation family, 1 affected (M), 1 unaffected (F) M - Netherlands Caucasian - 0 yes - CMH paroxysmal ventricular tachycardia (HP:0004751) 1 1 Judith Verhagen
00248882 - - family, 6 affected F;M no Norway - - 0 - - ? ABCC9-related Intellectual disability Myopathy Syndrome (AIMS) 1 6 Sanne Savelberg
00275986 - - - - - - - - 0 - - Cantu HP:0001520 HP:0000256 HP:0000280 HP:0001714 HP:0000212 1 1 Fanny Kortüm
00275987 - - - M - - - 53y 0 - - Cantu HP:0001520 HP:0000256 HP:0000280 HP:0000212 HP:0001698 HP:0005113 HP:0001263 HP:0002240 HP:0009767 HP:0008386 1 1 Fanny Kortüm
00275998 - - - F - - - - 0 - - Cantu HP:0000280 HP:0000998 HP:0001643 HP:0001388 HP:0011342 1 1 Fanny Kortüm
00275999 - - - M - - - - 0 - - Cantu HP:0000280 HP:0000212 HP:0000998 HP:0001643 HP:0011342 1 1 Fanny Kortüm
00276016 Fam1 PubMed: Smeland 2019 2-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents/relatives heterozygous carriers F;M - Norway North Norway - 0 - - ? see paper; ..., dysmorphic facies, intellectual disability, developmental delay, anxiety, myopathy with hypotonia, muscle weakness, fatigability 1 1 Johan den Dunnen
00276017 Fam2 PubMed: Smeland 2019 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F;M - Norway North Norway - 0 - - ? see paper; ..., dysmorphic facies, intellectual disability, developmental delay, anxiety, myopathy with hypotonia, muscle weakness, fatigability 1 1 Johan den Dunnen
00288327 - - - M - Italy - - 0 - - Cantu HP:0001520 HP:0000256 HP:0000280 HP:0001714 HP:0000212 HP:0000998 HP:0000926 HP:0001388 1 1 Fanny Kortüm
00288328 - - - M - - - - 0 - - Cantu HP:0000256 HP:0000280 HP:0000212 HP:0004554 HP:0001644 1 1 Fanny Kortüm
00288329 - - - F - Italy - - 0 - - Cantu HP:0000280 HP:0000212 HP:0000998 HP:0001643 HP:0001631 HP:0002719 1 1 Fanny Kortüm
00288331 - - - M - - - - 0 - - Cantu HP:0001520 HP:0000256 HP:0000280 HP:0000998 HP:0001714 HP:0001640 HP:0002719 1 1 Fanny Kortüm
00290668 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 10 Mohammed Faruq
00290669 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 28 Mohammed Faruq
00295534 - - - F - (Brazil) - - - - - ? HP:0000286 HP:0012471 1 1 Fanny Kortüm
00314911 Trio113 PubMed: Zhu 2015 - M - United States - - 0 - - ? Coarse facial features, hirsutism, developmental delay, nearly absent fifth fingernails and toenails, large for gestational age, polyhydramnios, low Apgar scores, complications in the newborn period, and complications at 6 weeks of life resulting in apnea, stroke and seizures. 1 1 Johan den Dunnen
00317697 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317698 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317699 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317700 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317701 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317702 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317703 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317704 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00320288 BTT1 PubMed: Isbister 2020 - M - Australia Asia-SE - 0 - - CM see paper; ..., survived sudden cardiac arrest 1 1 Johan den Dunnen
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