All individuals with variants in gene ENPP1

192 entries on 2 pages. Showing entries 1 - 100.
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00000016 - PubMed: Bell 2011 - - - - - - - - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000060 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000068 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 Global Variome, with Curator vacancy
00000094 - PubMed: Bell 2011 Coriell sample - - - - - - - - GA1 - 1 1 Global Variome, with Curator vacancy
00079035 - PubMed: Edouard 2011, PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected, 2 unaffected sibs F no France French Canadian - - - - GACI1 calcification aorta, diverse arteries, pulmonary arteries, renal arteries; no periarticular calcifications; pericardial effusion; polyhydramnios, anasarque; bisphosphonates etidronate and pamidronate 1 1 Yvonne Nitschke
00079036 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected twin pair, 1 unaffected sibs M no France French Canadian 3d - - - GACI1 calcification aorta, diverse arteries; no periarticular calcifications; pericardial effusion, RV hypertrophy; hydrops fetalis, oligurie, pleural effusion; no bisphosphonates 1 2 Yvonne Nitschke
00079037 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 2 affected, 1 unaffected sibs F no France white 26d - - - GACI1 calcification aorta, diverse arteries, renal arteries; no periarticular calcifications; cardiomegaly, hypertension; hydrops fetalis, anemia, anuric, ascitis; bisphosphonates pamidronate 1 2 Yvonne Nitschke
00079038 - PubMed: Stella 2016 sister Fam3Pat3 F no France white 1d - - - GACI1 calcification aorta, diverse arteries; no bisphosphonates 1 1 Yvonne Nitschke
00079039 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected, 2 unaffected sibs M no France - 0d - - - GACI1 stillbirth; calcification aorta, diverse arteries; no periarticular calcifications; cardiomegaly; polyhydramnios, anasarque; no bisphosphonates 2 1 Yvonne Nitschke
00079040 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected F ? Ireland - 2m - - - GACI1 calcification aorta; heart failure; hydrops fetalis; no bisphosphonates 1 1 Yvonne Nitschke
00079041 - Van de Woestijne 1988 (Ped.Pathol. 8:675–676), PubMed: Levine 2001, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M no United States - 0d - - - GACI1 stillbirth; calcification aorta, coronary arteries, renal arteries, heart valves; no periarticular calcifications; biventricular dysfunction, pericardial effusion; polyhydramnios; no bisphosphonates 1 2 Yvonne Nitschke
00079042 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affected, 1 unaffected sibs F no Canada - 1d - - - GACI1 died after 15 min.; calcification aorta, coronary arteries, pulmonary arteries; pericardial effusion; hydrops fetalis; no bisphosphonates 1 2 Yvonne Nitschke
00079043 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M no Ireland - 9d - - - GACI1 calcification diverse arteries; dilated ivc, poor biventricular systolic function, dilated RA and RV, small PFO, small pda with left to right shunt, hypotension,; hydrops fetalis, liver dysfunction, ascites, retinal haemorrhage 1 2 Yvonne Nitschke
00079044 - Van de Woestijne 1988 (Ped.Pathol. 8:675–676), PubMed: Bellah 1992, PubMed: Ruf 2005 2-generation family, unaffected heterozygous carrier parents, 3 affecteds, 3 unaffected sibs F no United States Ireland 1d - - - GACI1 died after 1h; calcification diverse arteries, pulmonary arteries; no periarticular calcifications; no bisphosphonates 1 3 Yvonne Nitschke
00079045 - PubMed: Stella 2016 sister Fam9Pat10 F no United States Ireland 7m14d - - - GACI1 calcification aorta, diverse arteries, coronary arteries, renal arteries, heart valves; no periarticular calcifications; cardiomegaly, hypertension; bisphosphonates etidronate; resolution of calcifications 1 1 Yvonne Nitschke
00079046 - PubMed: Ruf 2005 2-generation family, unaffected heterozygous carrier parents, 3 affecteds (1 twin pair) M no United Kingdom (Great Britain) - 1m14d - - - GACI1 calcification aorta, diverse arteries, coronary arteries, pulmonary arteries; 2 3 Yvonne Nitschke
00079047 - PubMed: Ruf 2005, PubMed: Rutsch 2008 twin sister Fam10Pat12 F no United Kingdom (Great Britain) - - - - - GACI1 calcification aorta, pulmonary arteries; calcification of pericardium; hypophosphatemic rickets, effused c2-c3 vertebrae, calcification of renal capsule, knee deformity; no bisphosphonates; spontaneous resolution of calcifications; 2 1 Yvonne Nitschke
00079048 - PubMed: Inwald 2006, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds F no United Kingdom (Great Britain) - 5m - - - GACI1 calcification aorta, coronary arteries, renal arteries; no periarticular calcifications; poor LV function, biventricular hypertrophy, hypertension, hypertrophic cardiomyopathy, mild pulmonary hypertension, dilated ascending aorta; renal failure with complete occlusion of renal arteries, hepatomegaly, narrowing of neck and renal vessels; no bisphosphonates; no hypophosphatemia 2 2 Yvonne Nitschke
00079049 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds, 2 unaffected sibs M no Ireland - 4m14d - - - GACI1 calcification aorta, coronary arteries, renal arteries, heart valves; no periarticular calcifications; ventricular dysfunction, dilated cardiomyopathy, hypertrophe cardiomyopathy, hypertensionrenal artery stenoses; bisphosphonates etidronate; no hypophosphatemia 2 2 Yvonne Nitschke
00079050 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds F no United Kingdom (Great Britain) - 4m - - - GACI1 calcification diverse arteries, coronary arteries, pulmonary arteries; no periarticular calcifications; cardiomegaly, pericardial effusion; pleural effusion, ascites 2 2 Yvonne Nitschke
00079051 - PubMed: Ciana 1997 2-generation family, unaffected heterozygous carrier parents, 2 affecteds F no Italy;Germany;United States - - - - - GACI1 calcification aorta, pulmonary arteries, heart valves; periarticular calcifications shoulders, hip, knee; pericardial effusion, LV hypertrophy, dilated RV, hypertension,; polyhydramnios, fetal hydrops, nephrocalcinosis, cerebral atrophy, ascites, abdominal aorta narrowed under diaphragm, spastic tetraparesis with dystonic component; no bisphosphonates; spontaneous resolution of calcifications 2 2 Yvonne Nitschke
00079052 - PubMed: Ciana 1997 sister Fam14Pat17 F no Italy;Germany;United States - - - - - GACI1 calcification aorta, heart valves; no periarticular calcifications; hypertension; generalized articular pain, knee valgism, hypophosphatemic rickets; spontaneous resolution of calcifications 2 1 Yvonne Nitschke
00079053 - PubMed: Ruf 2005, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds (twin pair), 1 unaffected sib F no United States - 3m - - - GACI1 calcification coronary arteries, renal arteries; no periarticular calcifications; hepatic haemangioma; no hypophosphatemia 3 2 Yvonne Nitschke
00079054 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected F no United Kingdom (Great Britain) - - - - - GACI1 calcification aorta, diverse arteries, pulmonary arteries; no periarticular calcifications; diffuse hypertrophy, pericardial effusion, global dysfunction; multiple echogenic foci in brain parenchyma, periventricular area; no bisphosphonates 2 1 Yvonne Nitschke
00079055 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 3 affecteds, 1 unaffected sibs M no France - 0d - - - GACI1 stillbirth; calcification aorta, pulmonary arteries; periarticular calcifications; pericardial effusion, cardiomegaly,; pleural effusion, splenomegaly, brain calcification (Thalamus); no bisphosphonates 2 3 Yvonne Nitschke
00079056 - PubMed: Rutsch 2008 brother Fam17Pat21 M no France - 12d - - - GACI1 calcification aorta, coronary arteries, pulmonary arteries; LV dysfunction, cardiomegaly,; brain calcification, kidney calcification; bisphosphonates pamidronate; no hypophosphatemia, no hypophosphaturia 2 1 Yvonne Nitschke
00079057 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs M no Germany;Sweden - 0d - - - GACI1 died after 5h; calcification aorta, diverse arteries, pulmonary arteries, renal arteries; no periarticular calcifications; cardiomegaly; narrowing of splenic and mesenterial arteries; no bisphosphonates 2 1 Yvonne Nitschke
00079058 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs F no Germany;Australia - 4m14d - - - GACI1 calcification coronary arteries, diverse arteries; no periarticular calcifications; cardiomegaly, LV dysfunction; pulmonary plethora; bisphosphonates risedronate 2 1 Yvonne Nitschke
00079059 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds F no Australia - 1d - - - GACI1 died after 9h; calcification aorta, pulmonary arteries; no periarticular calcifications; dilated RV and LV, decreased contractility , cardiomegaly; hydrops fetalis, ascites, pleural effusion; no hypophosphatemia 2 2 Yvonne Nitschke
00079060 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M no Ireland;Philippines - - - - - GACI1 calcification aorta; hypertension; bisphosphonates pamidronate; no resolution of calcifications; 2 2 Yvonne Nitschke
00079061 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds F no Italy - 2m - - - GACI1 calcification diverse arteries; no periarticular calcifications; LV dysfunction, LV hypokinesia; bisphosphonates pamidronate; no resolution of calcifications 2 2 Yvonne Nitschke
00079062 Pat1 PubMed: Nitschke 2012 2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs M yes Italy - - - - - GACI1 calcification aorta, coronary arteries, diverse arteries, pulmonary arteries; periarticular calcifications hips, ankles, wrists, shoulders; hypertension in neonatal period; angioid streaks in retina, cutaneous hyperlaxity, angioid skin spots, genu valgum hypophosphatemic rickets, pseudoxanthomatous lesions on the neck; bisphosphonatesclodronate p.o.; resolution of calcifications 1 1 Yvonne Nitschke
00079063 Pat2 PubMed: Nitschke 2012 2-generation family, unaffected heterozygous carrier parents, 1 affected F no France;Italy - - - - - GACI1 calcification aorta, diverse arteries, pulmonary arteries, renal arteries, endo- cardium; painful wrist calcifications in the neonatal period in hip, shoulder, wrist; genu valgum, angioid streaks in the Bruch’s membrane, deafness, cutaneous hyperlaxity, hypophosphatemic rickets developed at 3 years, stapedovestibular ankylosis leading to hearing loss; no bisphosphonates; no hypophosphatemia 2 1 Yvonne Nitschke
00079064 - PubMed: Whitehall 2003 2-generation family, unaffected heterozygous carrier parents, 3 affecteds, 2 unaffected sibs F no United Kingdom (Great Britain) Nigeria 8d - - - GACI1 calcification aorta, coronary arteries, renal arteries; no periarticular calcifications; no bisphosphonates; no hypophosphatemia 3 3 Yvonne Nitschke
00079065 - PubMed: Stella 2016 sister Fam25Pat30 F no United Kingdom (Great Britain) Nigeria - - - - GACI1 calcification aorta, coronary arteries; no periarticular calcifications; bisphosphonates pamidronate, risedronate; resolution of calcifications 3 1 Yvonne Nitschke
00079066 - PubMed: Rutsch 2003, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M yes Turkey - - - - - GACI1 calcification renal arteries, aorta, coronary arteries; periarticular calcifications hip, shoulder, wrists; pericardial effsuion, cardiomegaly, bicuspid aortic valve; polyhydramnios, large for gestational age, developmental disorder, phosphate diabetes, single transverse palmar crease, stenosis of A. sublcavia sinistra; bisphosphonates etidronate; resolution of calcifications 1 2 Yvonne Nitschke
00079067 - PubMed: Rutsch 2003, PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affected, 3 unaffected sibs F no Germany - 00y01m - - - GACI1 calcification aorta, diverse arteries, coronary arteries, renal arteries; 3 2 Yvonne Nitschke
00079068 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M no United Kingdom (Great Britain) - 1d - - - GACI1 calcification aorta, coronary arteries, pulmonary arteries, renal arteries; no periarticular calcifications; pericardial effusion; laminar necrosis of cinguate gyrus, hypoxic ischaemic encephalopathy 3 2 Yvonne Nitschke
00079069 - PubMed: Patel 2004 2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs F no South Africa - - - - - GACI1 calcification aorta, diverse arteries, renal arteries; no periarticular calcifications; hypertension, cardiomegaly, pulmonary congestion, LV hypertrophy, dilated ventricels,; no bisphosphonates; no hypophosphatemia 1 1 Yvonne Nitschke
00079070 - PubMed: Pashankar and Moore 1997 2-generation family, unaffected heterozygous carrier parents, 3 affecteds, 3 unaffected sibs M yes Pakistan - 1d - - - GACI1 died after 5h; calcification aorta, coronary arteries, pulmonary arteries, renal arteries, heart valves ; no periarticular calcifications; no bisphosphonates 3 3 Yvonne Nitschke
00079071 - PubMed: Pashankar and Moore 1997 sister of Fam30Pat36 F yes Pakistan - 00y00m01d - - - GACI1 died after 30 min.; calcification diverse arteries; no periarticular calcifications; hydrops fetalis, subcutaneous oedema, ascites, atelectatis, anaemia, abnormalities of ureterovesical junction; no bisphosphonates 3 1 Yvonne Nitschke
00079072 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected, 2 unaffected sibs M no Philippines - 1d - - - GACI1 calcification aorta, coronary arteries, diverse arteries, renal arteries; no periarticular calcifications; pericardial effusion, myocardial hypertrophy, cardiac dilatation, bicuspid aortic valve, decreased contractility, interstitial oedema of myocardium; hydrops fetalis, ascites, pleural effusion, hepatosplenomegaly, periventricular leukomalacia, white matter gliosis; no bisphosphonates 1 1 Yvonne Nitschke
00079073 - PubMed: Rutsch 2008 2-generation family, unaffected heterozygous carrier parents, 2 affecteds M no Ireland - - - - - GACI1 calcification aorta, coronary arteries, heart valves; no periarticular calcifications; bisphosphonates pamidronate; resolution of calcifications 3 2 Yvonne Nitschke
00079074 - PubMed: Stella 2016 2-generation family, unaffected heterozygous carrier parents, 1 affected, 1 unaffected sibs F ? Italy - 0d - - - GACI1 stillbirth; no bisphosphonates 2 1 Yvonne Nitschke
00184303 controls, heterozygous PubMed: Sharafshah 2018 - - no Iran North of Iran - - - - Healthy/Control - 1 121 Jilani Jawaid
00204198 cases, heterozygous PubMed: Sharafshah 2018 - - no Iran North of Iran - - - see paper NIDDM Increased body mass index (HP:0031418), hyperglycemia (HP:0003074), elevated hemoglobin A1c (HP:0040217), middle age onset (HP:0003596), elevated diastolic blood pressure (HP:0005117) 1 215 Jilani Jawaid
00204199 controls, heterozygous PubMed: Sharafshah 2018 - - no Iran North of Iran - - - - Healthy/Control - 1 47 Jilani Jawaid
00204200 cases, heterozygous PubMed: Sharafshah 2018 - - no Iran North of Iran - - - see paper NIDDM Increased body mass index (HP:0031418), hyperglycemia (HP:0003074), elevated hemoglobin A1c (HP:0040217), middle age onset (HP:0003596), elevated diastolic blood pressure (HP:0005117) 1 91 Jilani Jawaid
00204303 controls, homozygous PubMed: Sharafshah 2018 - - no Iran North of Iran - - - - Healthy/Control - 1 20 Jilani Jawaid
00204322 cases, homozygous PubMed: Sharafshah 2018 - - no Iran North of Iran - - - See paper NIDDM Increased body mass index (HP:0031418), hyperglycemia (HP:0003074), elevated hemoglobin A1c (HP:0040217), middle age onset (HP:0003596), elevated diastolic blood pressure (HP:0005117) 1 17 Jilani Jawaid
00204323 controls, homozygous PubMed: Sharafshah 2018 - - no Iran North of Iran - - - - Healthy/Control - 1 1 Jilani Jawaid
00204324 cases, homozygous PubMed: Sharafshah 2018 - - no Iran North of Iran - - - see paper NIDDM Increased body mass index (HP:0031418), hyperglycemia (HP:0003074), elevated hemoglobin A1c (HP:0040217), middle age onset (HP:0003596), elevated diastolic blood pressure (HP:0005117) 1 4 Jilani Jawaid
00293982 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00293983 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 171 Mohammed Faruq
00293984 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 8 Mohammed Faruq
00305056 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00394451 Fam6Pat12 PubMed: Kinoshita 2012 - F - Japan - - - - - ARHR2 - 1 1 Johan den Dunnen
00395105 Pat3 PubMed: Capelli 2015 - F - Italy - - - - - ? severe bowing of legs and genua valga; cupping and fraying of radial, ulnar, femoral and tibial metaphyses, bowing of femoral diaphysis 1 1 Johan den Dunnen
00397621 Tab4-Pat14 PubMed: Zhang 2015 - - - China - - - - - dysplasia, bone see paper; ... 2 1 Johan den Dunnen
00401654 Pat3 PubMed: Thiele 2020 - F - Germany - - - - - HR - 3 1 Johan den Dunnen
00415081 - - - - - - - - - - - GACI1 - 1 1 Stephanie Mercurio
00417545 - - - - - - - - - - - GACI1 - 2 1 Stephanie Mercurio
00417546 - - - - - - - - - - - GACI1 - 2 1 Stephanie Mercurio
00417551 - - - - - - - - - - - GACI1 - 2 1 Stephanie Mercurio
00417555 - - - - - - - - - - - GACI1 - 1 1 Stephanie Mercurio
00417556 - - - - - - - - - - - GACI1 - 1 1 Stephanie Mercurio
00417557 - - - - - - - - - - - ARHR2 - 1 1 Stephanie Mercurio
00417558 - - - - - - - - - - - ARHR2, GACI1 - 2 1 Stephanie Mercurio
00417560 - - - - - - - - - - - ARHR2, GACI1 - 1 1 Stephanie Mercurio
00417561 - - - - - - - - - - - GACI1 - 1 1 Stephanie Mercurio
00419745 - PubMed: Ramjan 2009, PubMed: Rutsch 2008, PubMed: Stella 2016 - - - Australia - - - - - CAGI neonatal onset 3 1 Johan den Dunnen
00419746 Fam3 PubMed: Rutsch 2003, PubMed: Ramjan 2009, PubMed: Rutsch 2008, PubMed: Stella 2016 - - - Australia - - - - - CAGI neonatal onset 3 1 Johan den Dunnen
00419747 Fam6 PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016 - - - United States - - - - - CAGI neonatal onset 1 1 Johan den Dunnen
00419748 - PubMed: Bellah 1992, PubMed: Rutsch 2008, PubMed: Stella 2016 - - - - - - - - - CAGI antenatal onset 1 1 Johan den Dunnen
00419749 Fam3PatA PubMed: Chiana 2006, PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016 - - - Italy - - - - - CAGI neonatal onset 2 2 Johan den Dunnen
00419750 Fam3PatB PubMed: Chiana 2006, PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016 - - - Italy - - - - - CAGI - 2 1 Johan den Dunnen
00419751 Fam1 PubMed: Ruf 2005 - - - United States - - - - - CAGI neonatal onset 1 1 Johan den Dunnen
00419752 Pat1;Pat13;Pat6 PubMed: Thumbigere-Math 2018, PubMed: Ferreira2021, PubMed: Ferreira2021 - F - United States - - - - - CAGI neonatal onset 2 1 Johan den Dunnen
00419753 - PubMed: Meng 2017 - - - United States - - - - - CAGI neonatal onset 2 1 Johan den Dunnen
00419754 - PubMed: Rutsch 2003, PubMed: Rutsch 2008, PubMed: Stella 2016 - - - - - - - - - CAGI antenatal onset 1 1 Johan den Dunnen
00419755 Fam8 PubMed: Ruf 2005 - - - Germany - - - - - CAGI - 2 1 Johan den Dunnen
00419756 Fam2 PubMed: Rutsch 2003, PubMed: Rutsch 2008 - - - United States - - - - - CAGI neonatal onset 2 1 Johan den Dunnen
00419757 Fam2 PubMed: Lorenz-Depiereux 2010 2-generation family, 1 affected M - Turkey - - - - - HR adult onset 1 1 Johan den Dunnen
00419758 Fam4PatII4 PubMed: Lorenz-Depiereux 2010 3-generation family, affected father/son M - Turkey - - - - - HR juvenile onset 1 2 Johan den Dunnen
00419759 Fam4PatIII2 PubMed: Lorenz-Depiereux 2010 son M - Turkey - - - - - CAGI neonatal onset 1 1 Johan den Dunnen
00419760 Fam5PatA PubMed: Cheng 2005, PubMed: Ruf 2005, PubMed: Rutsch 2008 - - - Taiwan - - - - - CAGI neonatal onset 2 2 Johan den Dunnen
00419761 Fam5PatB PubMed: Cheng 2005, PubMed: Ruf 2005, PubMed: Rutsch 2008 - - - Taiwan - - - - - CAGI neonatal onset 2 1 Johan den Dunnen
00419762 patient;Pat5;Pat11;Pat2 PubMed: Ferreira 2016, PubMed: Thumbigere-Math 018, PubMed: Ferreira2021, PubMed: Ferreira2021 - M - United States - - - - - CAGI infantile onset 2 1 Johan den Dunnen
00419763 patient;Pat2;Pat7;Pat12 PubMed: Schumacher 2012, PubMed: Thumbigere-Math 2018, PubMed: Ferreira2021, PubMed: Ferreira2021 - F - United States - - - - - CAGI neonatal onset 1 1 Johan den Dunnen
00419764 Fam9PatB PubMed: Ruf 2005 - - - United States - - - - - CAGI neonatal onset 3 1 Johan den Dunnen
00419765 Pat3 PubMed: Capelli 2015 - - - Italy - - - - - HR childhood onset 1 1 Johan den Dunnen
00419766 FamPatII2 PubMed: Kotwal 2021 2-generation family, 2 affected sisters F - United States - - - - - HR adult onset 2 2 Johan den Dunnen
00419767 FamPatII4 PubMed: Kotwal 2021 sister F - United States - - - - - HR neonatal onset 2 1 Johan den Dunnen
00419768 Fam6 PubMed: Rutsch 2003, PubMed: Rutsch 2008 - - - Canada - - - - - CAGI - 2 1 Johan den Dunnen
00419769 - PubMed: Rutsch 2008 - - - - - - - - - CAGI - 2 1 Johan den Dunnen
00419770 family;;Fam10PatA PubMed: Dlamini 2009, PubMed: Rutsch 2008, PubMed: Nitschke 2012, PubMed: Ruf 2005 - - - United Kingdom (Great Britain) - - - - - CAGI neonatal onset 2 2 Johan den Dunnen
00419771 family;;Fam10PatB PubMed: Dlamini 2009, PubMed: Rutsch 2008, PubMed: Ruf 2005 - - - United Kingdom (Great Britain) - - - - - CAGI antenatal onset 2 1 Johan den Dunnen
00419772 - PubMed: Tran 2006, PubMed: Rutsch 2008 - - - United States - - - - - CAGI neonatal onset 2 1 Johan den Dunnen
00419773 Fam7 PubMed: Rutsch 2003, PubMed: Rutsch 2008 - - - Canada - - - - - CAGI neonatal onset 2 1 Johan den Dunnen
00419774 Fam7PatA PubMed: Ruf 2005, PubMed: Rutsch 2008, PubMed: Stella 2016 - - - Pakistan - - - - - CAGI - 2 2 Johan den Dunnen
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