Disease #01499

Official abbreviation -
Name Andersen Tawil syndrome
OMIM ID 170390
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 108
Phenotype entries for this disease 107
Associated with 1 gene KCNJ2
Associated tissues -
Disease features -
Remarks -


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108 entries on 2 pages. Showing entries 1 - 100.
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00206609 - PubMed: Kuramoto 2012 cardiac abnormalities / dysmorphic features F ? Japan - >15y 0 - - Andersen Tawil syndrome LQT, bilateral VT KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206610 - PubMed: Bendahhou 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / the brother and the father are nonpenetrace / 2 mutation carrers M ? France - >19y 0 - - Andersen Tawil syndrome small chin, prominent U waves and bigeminy, hypokalemia, symptoms disappeared 24h later. Decreasement of the amplitude of th CMAP following long execise test. KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206611 - PubMed: Andelfinger 2002 cardiac abnormalities / 9 is non-penetrance F ? United States caucasian >13y 0 - - Andersen Tawil syndrome Valvular pulmonary stenosis, cardiac arrest, polymorphiventricular tachycardia KCNJ2 KCNJ2 1 41 Ikuko Takeda
00206612 - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / KJ-01 F ? Japan Japanese >30y 0 - - Andersen Tawil syndrome PVC, bigeminy, bidirectional VT, prolonged Quc KCNJ2 KCNJ2 1 3 Ikuko Takeda
00206613 - PubMed: Donaldson 2003 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7908 M ? United States - - 0 - - Andersen Tawil syndrome hypokalemic, bigeminy, polymorphic and bidirectional VT, Micrognathia, slight scoliosis, broad-base nose, low-set ears KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206614 - PubMed: Donaldson 2003 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred8636 M ? United States - - 0 - - Andersen Tawil syndrome bigeminy, polymorphic VT, low-set ears, retrognathia. muscle biopsy: tubular aggregates. KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206615 - PubMed: Davies 2005 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United Kingdom (Great Britain) - >25y 0 - - Andersen Tawil syndrome hypokalemia, LQT, painful paralysis. muscle biopsy: tubular aggregates. KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206616 - PubMed: Davies 2005 periodic paralysis / dysmorphic features F ? United Kingdom (Great Britain) - >10y 0 - - Andersen Tawil syndrome hypokalemia. muscle biopsy: myopathic. KCNJ2 KCNJ2 1 4 Ikuko Takeda
00206617 - PubMed: Kimura 2012 periodic paralysis M ? Japan - >24y 0 - - Andersen Tawil syndrome - KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206618 - PubMed: Eckhardt 2007 cardiac abnormalities F ? United States Caucasian - 0 - - Andersen Tawil syndrome Asymptomatic/polymorphic PVCs, non-specific inferior and lateral T-wave changes KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206619 - PubMed: Haruna 2007 cardiac abnormalities / dysmorphic features / Kindred 323 F ? Japan Japanese >13y 0 - - Andersen Tawil syndrome PVC, couplet, bidirectional VT KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206620 - PubMed: Davies 2005 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United Kingdom (Great Britain) - >6y 0 - - Andersen Tawil syndrome LQT, elevated CK, KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206621 - PubMed: Donaldson 2003 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7770 F ? United States - - 0 - - Andersen Tawil syndrome hypokalemic, low-set asymmetrical ears, micrognathia, broad-base nose, hypertelorism, syndactyly of second and third toes, short toes on right foot, LQT, bigeminy, polymorphic VT KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206622 - PubMed: Marrus 2011 cardiac abnormalities / periodic paralysis / dysmorphic features M ? United States - >28y 0 - - Andersen Tawil syndrome bilateral syndactyly of toes 2-3, premature ventricular complexes, bigeminy, prominent U waves KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206623 - PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 4415 F ? United States - >11y 0 - - Andersen Tawil syndrome LQT KCNJ2 KCNJ2 1 10 Ikuko Takeda
00206624 - PubMed: Ballester 2006 cardiac abnormalities / periodic paralysis / dysmorphic features M ? United States Caucasian >10y 0 - - Andersen Tawil syndrome complex ventricular ectopy KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206625 - PubMed: Fodstad 2004 cardiac abnormalities / periodic paralysis F ? Finland - >20y 0 - - Andersen Tawil syndrome primary hypothyroidism, ventricular ectopy, LQT, hypermobility of hip joint, U wave, normakalemia KCNJ2 KCNJ2 1 7 Ikuko Takeda
00206626 - PubMed: Yoon 2006 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United States caucasian >25y 0 - - Andersen Tawil syndrome broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, PVC, VT KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206627 - PubMed: Donaldson 2003 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7300 F ? United States - - 0 - - Andersen Tawil syndrome Clinodactyly, micrognathia, low-set ears, hypertelorism, short stature, normokalemic, bigeminy, bidirectional VT, LQT. muscle biopsy: tubular aggregates. KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206628 - PubMed: Lu 2006 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United States - >15y 0 - - Andersen Tawil syndrome clinodactyly, scoliosis, high arched palate, asymmetrically placed lower mandible, mild varus position, PVC, normokalemia, prominent U wave, non-sustained VT, RBBB KCNJ2 KCNJ2 1 3 Ikuko Takeda
00206629 - PubMed: Tani 2007 cardiac abnormalities F ? Japan Japanese >35y 0 - - Andersen Tawil syndrome syncope, normokalemia, Short stature (1.4m), LQT, bidirectional VT KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206630 - PubMed: Eckhardt 2007 cardiac abnormalities / periodic paralysis F ? United States Caucasian - 0 - - Andersen Tawil syndrome sncope/PVCs, bigeminy KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206631 - PubMed: Davies 2005 cardiac abnormalities / periodic paralysis / dysmorphic features M ? United Kingdom (Great Britain) - >19y 0 - - Andersen Tawil syndrome ventricular KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206632 - PubMed: Yoon 2006 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United States Caucasian >38y 0 - - Andersen Tawil syndrome broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, PVC, U wave. muscle biopsy: tubular aggregates. KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206633 - PubMed: Davies 2005 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United Kingdom (Great Britain) - >17y 0 - - Andersen Tawil syndrome painful paralysis, hypokalemia. muscle biopsy: vacuolar myopathy. KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206634 - PubMed: Eckhardt 2007 cardiac abnormalities F ? United States Caucasian - 0 - - Andersen Tawil syndrome Irregular heart rhythm and palpitations, prominent U wave, frequent premature ventricular beats, short runs of VT KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206635 - PubMed: Tester 2006 cardiac abnormalities F ? United States - >14y 0 - - Andersen Tawil syndrome Ventricular ectopy, asymptomatic, bidirectional ventricular tachycardia, polymorphic ventricular tachycardia KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206636 - PubMed: Tester 2006 cardiac abnormalities F ? United States - >9y 0 - - Andersen Tawil syndrome Ventricular ectopy KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206637 - PubMed: Kimura 2012 cardiac abnormalities F ? Japan - >29y 0 - - Andersen Tawil syndrome PVC, bidirectal VT, KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206638 - PubMed: Kuramoto 2012 cardiac abnormalities / dysmorphic features / KCNH2 P1093L M ? Japan - >11y 0 - - Andersen Tawil syndrome bidirectional VT KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206639 - PubMed: Davies 2005 periodic paralysis / dysmorphic features / his mother was carrer / his brother has periodic paralysis M ? United Kingdom (Great Britain) - >15y 0 - - Andersen Tawil syndrome hypokalemia KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206640 - PubMed: Kimura 2012 cardiac abnormalities F ? Japan - >46y 0 - - Andersen Tawil syndrome bidirectal VT, long QT KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206642 - - - M ? Japan Asian >63y 0 - - Andersen Tawil syndrome Electrocardiogram showed enlarged U-waves, wide T–U junction, prolonged QUc interval; periodic paralysis, dysmorphological features comprised short stature, low-set ears, hypertelorism, small mandible, high arched palate, dental anomalies, broad nasal root, fifth-digit clinodactyly KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206643 - PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 3328 F ? United States - >26y 0 - - Andersen Tawil syndrome LQT, bigeminy, polymorphic VT, nonsustain VT, normokalemia, prolonged T wave, prominent U wave, KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206644 - PubMed: Chun 2004 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United States - >16y 0 - - Andersen Tawil syndrome bidirectional VT, ICD KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206645 - PubMed: Zhang 2005 PubMed: Ballester 2006 cardiac abnormalities / periodic paralysis / dysmorphic features ? ? United States - - 0 - - Andersen Tawil syndrome Prolong of T wave, prominent U wave, nonsustained VT, hypokalemia, micrognathia, hypertelorism KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206646 - PubMed: Davies 2005 periodic paralysis / dysmorphic features / he was one of twins. M ? United Kingdom (Great Britain) - >18y 0 - - Andersen Tawil syndrome CK elevated, muxcle weakness KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206647 - PubMed: Plaster 2001 periodic paralysis / dysmorphic features / Kindred6634 F ? United States - >45y 0 - - Andersen Tawil syndrome LQT, Bigeminy KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206648 - PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred3856 F ? United States - >23y 0 - - Andersen Tawil syndrome LQT, Bidirectal VT, KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206649 - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 024, his son had seizure, KCNQ1(A341V) F ? Japan Japanese >44y 0 - - Andersen Tawil syndrome PVC, bidirectional VT, polymorphic VT, LQT, prolonged Quc KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206650 - PubMed: Kimura 2012 cardiac abnormalities F ? Japan - >3y 0 - - Andersen Tawil syndrome catecholaminergic polymorhpic VT KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206651 - PubMed: Lim 2010 cardiac abnormalities / periodic paralysis / dysmorphic features M ? Korea - >18y 0 - - Andersen Tawil syndrome ocular hypertelorism, low-set ear, small mandibled, clinodacytly of the fifth finger, normokalemia, bigeminy, nonsustained VT, KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206652 - PubMed: Ballester 2006 cardiac abnormalities / periodic paralysis / dysmorphic features F ? France Hispanic >9y 0 - - Andersen Tawil syndrome scoliosis, ventricular arrhythmia, proximal muscle weakness, hyporeflexia, KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206653 - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / Knidred 179 F ? Japan Japanese >28y 0 - - Andersen Tawil syndrome PVC, bigeminy, bidirectional VT, polymorphic VT KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206654 - PubMed: Yoon 2006 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United States Caucasian >29y 0 - - Andersen Tawil syndrome broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, chin hypoplasia, bigeminy. muscle biopsy: normal. KCNJ2 KCNJ2 1 3 Ikuko Takeda
00206655 - PubMed: Donaldson 2003 dysmorphic features / Kindred8472 F ? United States - - 0 - - Andersen Tawil syndrome scoliosis, short stature, low-set ears, micrognathia KCNJ2 KCNJ2 1 3 Ikuko Takeda
00206656 - PubMed: Kim 2009 periodic paralysis / dysmorphic features M ? Korea Korean >18y 0 - - Andersen Tawil syndrome low set ear, micrognathia, oligodontia, bilateral clinodactyly of the third and fourth fingers, hypokalemia, prominent U wave KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206657 - PubMed: Sacconi 2009 cardiac abnormalities / periodic paralysis / dysmorphic features M ? France - >31y 0 - - Andersen Tawil syndrome cleft palate, short stature, distinctive craniofacial dysmorphism, broad forehead, mild facial asymmetry, downslanting palpebral fissures, thin upper lip, long nose, dental anomalies, high arch palate, proximal weakness of lower limbs, hypokalemic, U wave KCNJ2 KCNJ2 1 3 Ikuko Takeda
00206658 - PubMed: Bendahhou 2005 periodic paralysis / dysmorphic features M ? France - >27y 0 - - Andersen Tawil syndrome short stature( height 1.58 m), high broad, prominent forehead, bone malformation (including acnormal radial curbature of the fif digits and non-deviated short toes). hypokalemia, premature beat, Dcreasement of CMAP amplitude in following long exercise. Deltoid muscle biopsy was normal. KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206659 - PubMed: Fodstad 2004 cardiac abnormalities F ? Finland - >40y 0 - - Andersen Tawil syndrome bigeminal rhythm, LQT, U wave, KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206661 - PubMed: Tristani 2002 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 7246 M ? United States - >18y 0 - - Andersen Tawil syndrome polymorpihc VT, normokalemia, hyperkalemia, hypertelorism, clinodactyly, prominent U wave, nosustained VT, RBBB KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206662 - PubMed: Donaldson, 2003 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7862 F ? United States - - 0 - - Andersen Tawil syndrome hypokalemic, bigeminy, PVC, prominent U wave, scoliosis, high-arched palate, micrognathia, broad-base nose, hypertelorism, low-set ears retrognathia KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206663 - PubMed: Ai 2002 cardiac abnormalities / periodic paralysis M ? Japan Japanese >13y 0 - - Andersen Tawil syndrome normokalemia, premature ventricular contractions, LQT, seizure. muscle biopsy: tubular aggregates. KCNJ2 KCNJ2 1 4 Ikuko Takeda
00206664 - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / Kindred 037 M ? Japan Japanese >13y 0 - - Andersen Tawil syndrome PVC, bigeminy, LQT, seizure, KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206665 - PubMed: Nagase 2007 cardiac abnormalities / periodic paralysis / dysmorphic features F ? Japan Japanese >19y 0 - - Andersen Tawil syndrome PVC, nonsustained ventricular tachycardia, palpitations, normokalemia, low-set ears, micrognathia, tapering fingers. endomyocardial biopsy: normal. KCNJ2 KCNJ2 1 3 Ikuko Takeda
00206666 - PubMed: Nagashima 2010 cardiac abnormalities / periodic paralysis / dysmorphic features F ? Japan Japanese >23y 0 - - Andersen Tawil syndrome normokalemia, short stature, low-set ear, hypoplasitc mandible, hypertelosrism, clinodactyly of fifth fingers, submucous cleft palate, bifid uvula, RBBB, LQT, prominent U wave,bidirectional ventricular tachycardia, polymorphic ventricular tachycardia, ASD KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206667 - PubMed: Chan 2010 periodic paralysis / dysmorphic features F ? Taiwan Taiwanese >35y 0 - - Andersen Tawil syndrome short stature,broad forehead,ocular hypertelorism,small head size,low-set ears, mandibular hypoplasia, clinodactyly of the fifth fingers and toes, quadriparesis with proximal muscle group, hyperreflexia, Babinski's sign,hypokalemia,bigeminy,LQT,depression KCNJ2 KCNJ2 1 3 Ikuko Takeda
00206668 - PubMed: Hosaka 2003 cardiac abnormalities / periodic paralysis / dysmorphic features F ? Japan Japanese >34y 0 - - Andersen Tawil syndrome cardiac arrest, ventricular fibrillation, short stature, scolliosis, broad forehead, low-set ears, mandibular micrognathia, clinodadtyly, hyperkalemia,LQT, long Quc interval, U wave, polymorphic ventricular tachycardia. muscle biopsy: tubular aggregates. KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206669 - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / N-01 F ? Japan Japanese 34y 0 - - Andersen Tawil syndrome PVC, bigeminy, polymorphic VT, VF, sudden death, ICD, prolonged Quc, high T&U wave KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206670 - PubMed: Lim 2010 cardiac abnormalities / periodic paralysis / dysmorphic features M ? Korea - >11y 0 - - Andersen Tawil syndrome hypertelorism, low-set ear, small mandible, normokalemia, dizziness KCNJ2 KCNJ2 1 3 Ikuko Takeda
00206671 - PubMed: Tristani 2002 cardiac abnormalities / Kindred 3442 F ? United States - >21y 0 - - Andersen Tawil syndrome LQT, bidirectional VT, cardiac arrest KCNJ2 KCNJ2 1 6 Ikuko Takeda
00206672 - PubMed: Davies 2005 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United Kingdom (Great Britain) - >32y 0 - - Andersen Tawil syndrome normokalemia, supraventricular tachycardia KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206673 - PubMed: Lange 2003 PubMed: Yoon 2006 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United States caucasian >12y 0 - - Andersen Tawil syndrome broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, U-wave, VT, PVC KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206674 - PubMed: Yoon 2006 PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 2681 F ? United States Caucasian >29y 0 - - Andersen Tawil syndrome broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, LQT,U wave, PVC KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206675 - PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred6515 M ? United States - >17y 0 - - Andersen Tawil syndrome polymorphic VT, bigeminy KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206676 - PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 2401 F ? United States - >35y 0 - - Andersen Tawil syndrome Bigeminy, non-fatal cardiac arrest, torsades, first-degree A-V block, LQT KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206677 - PubMed: Tristani 2002 cardiac abnormalities / Kindred2679 M ? United States - >24y 0 - - Andersen Tawil syndrome LQT, bigeminy, polymorphic VT KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206678 - PubMed: Tristani 2002 cardiac abnormalities / Kindred7480 M ? United States - >10y 0 - - Andersen Tawil syndrome bigeminy,LQT KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206679 - PubMed: Donaldson 2003 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7527, father nonpenetrace F ? United States - - 0 - - Andersen Tawil syndrome hypokalemic, bidirectional VT, polymorphic PVC, prominent U wave, micrognathia, scoliosis, clinodactyly. muscle biopsy: tubular aggregates. KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206680 - PubMed: Davies 2005 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United Kingdom (Great Britain) - >15y 0 - - Andersen Tawil syndrome ventricular, abnormal dentition, painful paralysis, mild ataxia. her brothers' muscle biopsies: myopathic, vacuolar myopathy. KCNJ2 KCNJ2 1 4 Ikuko Takeda
00206681 - PubMed: Davies 2005 periodic paralysis / dysmorphic features M ? United Kingdom (Great Britain) - >24y 0 - - Andersen Tawil syndrome painful paralysis. muscle biopsy: myopathic. KCNJ2 KCNJ2 1 3 Ikuko Takeda
00206682 - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / Kindred 180 F ? Japan Japanese >6y 0 - - Andersen Tawil syndrome PVC, bigeminy, couplet, bidirectional VT, monomorphic VT, syncope, seizure, LQT, prominent U wave KCNJ2 KCNJ2 1 3 Ikuko Takeda
00206683 - PubMed: Haruna 2007 cardiac abnormalities / dysmorphic features / Kindred 240 F ? Japan Japanese >11y 0 - - Andersen Tawil syndrome bigeminy, couplet, bidirectional VT, monomorphic VT, prolonged Quc, prominent U wave KCNJ2 KCNJ2 1 3 Ikuko Takeda
00206684 - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 324 M ? Japan Japanese >6y 0 - - Andersen Tawil syndrome PVC, couplet, bidirectional VT, prominent U wave KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206685 - PubMed: Weir 2011 periodic paralysis / dysmorphic features F ? United States Scottish >34y 0 - - Andersen Tawil syndrome hypokalemia, short stature, small with short fifth fingers, bilateral clinodactyly, neurocardiogenic syncope KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206686 - PubMed: Schoonderwoerd 2006 cardiac abnormalities / dysmorphic features F ? Netherlands - >18y 0 - - Andersen Tawil syndrome cardiac arrest, PVC, ventricular fibrillation, facial asymmetry, clinodactyly of fifth finger, cutaneous syndactyly, RBBB, polymorphic VT, prominent U wave. myocardia biopsy: hypertrophic myocytes with large irregularly shaped hypochromic nuclei, focal interstitial fibrosis. KCNJ2 KCNJ2 1 3 Ikuko Takeda
00206687 - PubMed: Subbiah 2008 cardiac abnormalities / periodic paralysis F ? Canada - >27y 0 - - Andersen Tawil syndrome ventricular ectopy, nonsustain VT, RBBB, prominent U wave, pregnancy KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206688 - PubMed: Tengan 2006 cardiac abnormalities / periodic paralysis / dysmorphic features M no Brazil - >33y 0 - - Andersen Tawil syndrome obesity, increased cervical perimeter, weakness of proximal limb muscle, micrognathia, retrognathia, clinodactyly of foruth and fifth fingers, short stateure, arched palate, thoracic scoliosis, normokalemia, LQT, sleepapnea, KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206689 - PubMed: Yoon 2006 PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred6562 M ? United States Caucasian >24y 0 - - Andersen Tawil syndrome broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, U wave, LQT,PVC. muscle biopsy: tubular aggregates. KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206690 - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 176 F ? Japan Japanese >13y 0 - - Andersen Tawil syndrome bigeminy, couplet, bidirectional VT KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206691 - PubMed: Haruna 2007 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 201 F ? Japan Japanese >12y 0 - - Andersen Tawil syndrome bigeminy, couplet, bidirectional VT, prolonged Quc, prominent U wave KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206692 - PubMed: Choi 2007 cardiac abnormalities / periodic paralysis / dysmorphic features M ? Korea Korean >19y 0 - - Andersen Tawil syndrome hypertelorism, micrognathia, serum potassium mildly decreased, broad-based nose, low-set ears, premature ventricular contraction, ventricular tachycardia, mildly decreased, premature ventricular contractions, ventricular tachycardia, CMAP was decreased, KCNJ2 KCNJ2 1 6 Ikuko Takeda
00206693 - PubMed: Tester 2006 cardiac abnormalities F ? United States - >17y 0 - - Andersen Tawil syndrome catecholaminergic polymorphic ventricular tachycardia,bidirectional VT,Syncope-exertion, palpitations, Nonsustained PVT, ventricular ectopy, Mild mitral regurgitation, mild thickening of mitral valve leaflets KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206694 - PubMed: Kimura 2012 cardiac abnormalities M ? Japan - >24y 0 - - Andersen Tawil syndrome PVC, VT KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206695 - PubMed: Barajas 2011 cardiac abnormalities / dysmorphic features F ? United States - >10y 0 - - Andersen Tawil syndrome normokalemia, micrognathia, retrognathia, hypertelorism, broad-based nose, clinodactyly of the third digit, syndactyly of toes, polymorphic ventricular tachycardia, bidirectional VT, LQT, long Quc, KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206697 - PubMed: Bendahhou 2005 cardiac abnormalities / periodic paralysis F ? France - >24y 0 - - Andersen Tawil syndrome hip subluxaion, bigeminy, ventricular tachycardia KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206698 - PubMed: Donaldson 2003 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred8305 M ? United States - - 0 - - Andersen Tawil syndrome hypokalemic, bigeminy, shor stature, low-set ears, micrognathia KCNJ2 KCNJ2 1 3 Ikuko Takeda
00206699 - PubMed: Davies 2005 cardiac abnormalities / periodic paralysis / dysmorphic features F ? United Kingdom (Great Britain) - >32y 0 - - Andersen Tawil syndrome hypokalemia, mild learning difficulties, short stature, hypertelorism, low-set ears, hypoplastic mandible, clinodactyly, overriding toes, palatal deformity, LQT. muscle biopsy: myopathic. KCNJ2 KCNJ2 1 5 Ikuko Takeda
00206700 - PubMed: Yoon 2006 PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 3387, three non-penetrace M ? United States caucasian >21y 0 - - Andersen Tawil syndrome broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, VT, PVC, LQT. muscle biopsy: tubular aggregates. KCNJ2 KCNJ2 1 4 Ikuko Takeda
00206701 - PubMed: Plaster 2001 cardiac abnormalities / periodic paralysis / Kindred3677 F ? United States - >34y 0 - - Andersen Tawil syndrome LQT, polymorphic VT, bigeminy KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206702 - PubMed: Haruna 2007 cardiac abnormalities / dysmorphic features / KJ-02 M ? Japan Japanese >16y 0 - - Andersen Tawil syndrome bigeminy, bidirectiona VT, syncope, prolonged Quc, high T&U amplitude KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206703 - {PMIDKamiya 2012} cardiac abnormalities / dysmorphic features F ? Japan Japanese >26y 0 - - Andersen Tawil syndrome pregnancy, syncope, micrognathia, hand clinodactyly, polymorphic PVC, nonsustain VT, KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206705 - PubMed: Ma 2007 PubMed: Tristani-Firouz 2002 cardiac abnormalities / Kindred 2682 M ? United States - >48y 0 - - Andersen Tawil syndrome RBBB, bigeminy KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206706 - PubMed: Kuramoto 2012 cardiac abnormalities / periodic paralysis / dysmorphic features M ? Japan Japanese >7y 0 - - Andersen Tawil syndrome PVC, bilateral VT KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206707 - PubMed: Plaster 2001 PubMed: Lange 2003 cardiac abnormalities / dysmorphic features / Kindred2281 F ? United States - >16y 0 - - Andersen Tawil syndrome LQT, PVC KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206708 - PubMed: Eckhardt 2007 cardiac abnormalities F ? United States Caucasian - 0 - - Andersen Tawil syndrome Asymptomatic/ventricular ectopy, polymorphic VT, flattening of T-waves KCNJ2 KCNJ2 1 1 Ikuko Takeda
00206709 - PubMed: Bendahhou 2007 cardiac abnormalities / periodic paralysis F ? France White >23y 0 - - Andersen Tawil syndrome muscle pain, ventricular arrhythmia, bidirectional tachycardia and extrasystolis in ECG. muscle biopsy: normal. KCNJ2 KCNJ2 1 4 Ikuko Takeda
00206710 - PubMed: Kuramoto 2012 cardiac abnormalities / dysmorphic features / L382L (1146C>T), her first son died of Gaucher's disease F ? Japan Japanese >37y 0 - - Andersen Tawil syndrome cardiac arrest, VF, PVC, bigeminy, trigeminy, bidirectional VT, short stature(1.52), hypertelorism, micrognathia, low-set ear, prominent U wave, KCNJ2 KCNJ2 1 2 Ikuko Takeda
00206711 - PubMed: Choi 2007 cardiac abnormalities / periodic paralysis / dysmorphic features M ? Korea Korean >19y 0 - - Andersen Tawil syndrome hypertelorism, micrognathia,Clinodactyly, a broad-based nose, low-set ears, CMAP decrease, normokalemia, asymptomatic premature ventricular, weakness was 2–3 days KCNJ2 KCNJ2 1 3 Ikuko Takeda
00206712 - PubMed: Bendahhou 2005 cardiac abnormalities / periodic paralysis / dysmorphic features / His brother died suddenly at age 29. M ? France - >12y 0 - - Andersen Tawil syndrome Dcreasement of CMAP amplitude in long exercise, attack last 1-2 weeks, normakalemia, Short stature (1.56m), low-set ear, broad forehead, short philtrum, cognitive impairement, palpitations, bigeminy, right bundle branch block, ventricular tachycardia KCNJ2 KCNJ2 1 2 Ikuko Takeda
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