Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
T-box 5
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tbx5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Tbx5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... OMIM:619897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... OMIM:608758
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... OMIM:604169
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Shoulder girdle muscle weakness, EMG: myopathic abnormalities, Palpitation... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in adolescence, Death in early adulthood, Cardiomyocyte hypertrophy, Dilated cardiomyopathy... OMIM:605676
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... OMIM:615616
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block... OMIM:115197
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Congestive heart failure, Atrial septal defect, Tricuspid regurgitation... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atrial arrhyt... OMIM:310300
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... OMIM:618782
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Brachydactyly, Arrhythmia, Abnormal atrioventricular conduction, Abn... ORPHA:168796
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Muscular Dystrophy, Becker Type
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy OMIM:300376
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent thumb, At... ORPHA:392
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Myocardial fibrosis, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... OMIM:615770
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Premature birth, Ventricular septal defect, Oligohydramnio... ORPHA:1909
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Weakness of facial musculatu... ORPHA:98909
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... OMIM:600309
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Intrinsic hand muscle atrophy, Limb-girdle muscle weakness, F... ORPHA:98912
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Attrv30M Amyloidosis
Cardiomegaly, Arrhythmia, Cardiomyopathy, Atrioventricular block ORPHA:85447
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... ORPHA:542306
Nathalie Syndrome
Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Facial palsy, Cardiomyopathy... OMIM:617336
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome, Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd fi... OMIM:140450
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebstein anomaly of the tricu... OMIM:611878
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Hydrops Fetalis
Miscarriage, Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Twin-to-twin transfusion, Lym... ORPHA:1041
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Holosystolic mu... ORPHA:99095
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... ORPHA:217607
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive ca... OMIM:619433
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Abnormal EKG, Cardiomyopathy OMIM:309930
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Hydrops fetalis, Arrhythmia, Ab... ORPHA:45452
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Naxos Disease
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Ventricu... OMIM:212138
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... ORPHA:206559
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... ORPHA:216694
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... OMIM:613426
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia OMIM:300952
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture, Abnormal hand morphology OMIM:122850
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, EMG: myopathic abnorma... OMIM:255160
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Hydrops fetalis, Ascites ORPHA:295
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Palpitations, Increased variability in muscle fiber diameter, Muscular dys... OMIM:616812
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Effort-induced polymorphi... OMIM:600996
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Cardiomyopathy, Familial Hypertrophic, 2
Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, Atrial fibrillation, ... OMIM:115195
Coronary Arterial Fistula
Angina pectoris, Abnormal heart morphology, Abnormal left ventricular function, Bacterial endocar... ORPHA:2041
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy OMIM:613158
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy, Fetal aki... OMIM:618815
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy OMIM:255100
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Hepatomegaly, Splenomegaly, Death in childhood, Hydrops fetalis, Ascite... OMIM:269920
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Tricuspid regurgitation, Right ventricular hypertrophy, Atrial septal d... ORPHA:1677
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Tachycardia, Arrhythmia, Exercise-induced rhabdomyolysis, Ventricular septa... ORPHA:26793
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... ORPHA:99103
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... OMIM:234700
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... ORPHA:2414
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614429
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... OMIM:617912
Cardiac Diverticulum
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... ORPHA:90064
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Nonimmune hydrops fetalis, Death in infancy, Abnormality of the amnio... OMIM:608540
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Camptodactyly of finger, Brachydactyly, Arthritis, Ventricula... ORPHA:1937
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Broad metacarpals, Bicuspid aortic valve, Atrial septal defect, Os... ORPHA:371428
Atrial Septal Defect 1
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Secundum atrial septal defect... OMIM:108800
Nephrosialidosis
Death in childhood, Ascites, Pericardial effusion OMIM:256150
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Tendon rupture, R... ORPHA:85451
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Transaldolase Deficiency
Atrial septal defect, Hepatosplenomegaly, Hydrops fetalis, Biventricular hypertrophy, Edema, Tela... ORPHA:101028
Left Ventricular Noncompaction 8
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... OMIM:613690
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Premature birth, Third degree atrioventricular block, Abnormality ... ORPHA:40366
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... OMIM:613751
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Abnormal 3rd finger morpholog... OMIM:249670
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Single transverse palmar crease, Adducted thumb, Brachydactyly, Muscular ventricular septal defect OMIM:620062
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... ORPHA:1055
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septa... OMIM:614326
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... OMIM:619424
Neonatal Lupus Erythematosus
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dilated cardiomyopathy, Heart b... ORPHA:398124
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, At... OMIM:601927
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, R... ORPHA:75249
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Secundum atrial septal defect, Hypoplastic left heart, Abse... OMIM:142900
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Hydrops fetalis, Preeclampsia, Polyhydramnios, Pericarditis, Oligohyd... ORPHA:163596
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiac shunt, Abnormal mitral valve morphology, Anomalous p... ORPHA:860
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Flared metaphysis, Hydrops fetalis, Micromelia, Polyhydram... OMIM:215045
Cirrhotic Cardiomyopathy
Right atrial enlargement, Third heart sound, Left ventricular diastolic dysfunction, Left ventric... ORPHA:57777
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... ORPHA:99104
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... ORPHA:1354
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot, Split foot OMIM:601348
Timothy Syndrome
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ... OMIM:601005
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short toe, Clinodactyly of the 5th finger, Pulmonic stenosis, Sandal gap, Transposition of the gr... OMIM:617877
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... OMIM:182255
Cleft Palate, Cardiac Defects, And Mental Retardation
2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Short 2nd finger, Cutane... OMIM:600987
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... OMIM:613980
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Klippel-Trénaunay Syndrome
Atrial septal defect, Hepatomegaly, Hydrops fetalis, Pulmonary embolism, Upper limb asymmetry, In... ORPHA:90308
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Small hand, Broad finger, Short phalanx of finger, Brachydactyly, Clinodactyly, Pericardial effusion OMIM:614684
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Hydrops fetalis, Single transverse p... OMIM:253250
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Feingold Syndrome Type 2
Brachydactyly, Ventricular septal defect, Short middle phalanx of finger, Short thumb, Toe syndac... ORPHA:391646
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... OMIM:600593
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Talipes equinovarus, Neonatal death, Camptodactyly, Death in infancy, Edema, Oligoh... OMIM:608104
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Prominent metopic ridge, Bilateral single transverse palmar c... OMIM:618804
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Heart block, Premature ventricular contraction ORPHA:1964
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... ORPHA:437572
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block OMIM:609438
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle weakness, Orthostatic hypotension, Distal amyotrophy, Abnormal atrioventricular c... OMIM:118301
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Death in childhood, Atrial septal defect, Decreased fetal movement OMIM:253300
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap ORPHA:2515
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Abnormal... OMIM:616749
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Primum atrial septal defect, Situs inversus totalis OMIM:619608
Sonoda Syndrome
Ventricular septal defect, High axial triradius OMIM:270460
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Atrioventricular block, Bradycardia OMIM:614407
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Junctional ectopic tac... ORPHA:137675
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect, Absent thumb OMIM:615272
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Atrial septal defect, Muscular ventricular septal defect, Left-to-right shunt, C... ORPHA:363444
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Flexion contracture, Tachycardia, Ventricular septal defect, Hypertension, ... OMIM:613870
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Short femur, Adducted thumb, Flared metaphysis, Hydrops fetalis, Worm... OMIM:616897
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morphology, ... ORPHA:3405
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:619003
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aortic valve stenosis, Low... ORPHA:363705
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Calf muscle h... ORPHA:254361
Atrial Fibrillation, Familial, 3
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... OMIM:607554
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect OMIM:614262
Neuraminidase Deficiency
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Ascites, Cardiomegaly, Cardiomyopathy,... OMIM:256550
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Broad first metatarsal, Erlenmey... OMIM:239850
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... ORPHA:1457
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Megabladder, Congenital
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, ... OMIM:618719
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Chromosome 16P13.3 Duplication Syndrome
Short toe, Atrial septal defect, Short phalanx of finger, Tapered finger, Long fingers, Ventricul... OMIM:613458
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Hepatomegaly, Death in infancy, Epiphyseal stippling OMIM:614876
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Acute rhabdomyolysis, Prolonged QTc interval, Rhabdomyolysis, Ventricular tac... OMIM:616878
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, C... ORPHA:49827
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, H... ORPHA:1263
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... ORPHA:99094
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... ORPHA:3092
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Glycogen Storage Disease Iv
Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Portal hypertension, Edema, Ascites, Cardiom... OMIM:232500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Caesarian section, Ventricular septal defect, Second degree atrioventric... ORPHA:369929
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Generalized amyotrophy, Abnormal EKG, Lower limb muscle weakness, Lower limb hypertonia ORPHA:1177
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
Lethal Congenital Contracture Syndrome 10
Talipes equinovarus, Adducted thumb, Oligohydramnios, Overlapping fingers, Hydrops fetalis, Ventr... OMIM:617022
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Upper limb undergrowth OMIM:613124
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Myotonic Dystrophy 1
Facial diplegia, Atrial fibrillation, First degree atrioventricular block, Atrial flutter OMIM:160900
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Edema, Hip dislocation, Asc... OMIM:608776
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2nd finger, Camptod... ORPHA:1388
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia, Myopathy ORPHA:104
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy OMIM:614947
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Intrinsic hand muscle atrophy, Muscular ventricular septal defect, Tapered finger, Short 3rd meta... OMIM:618569
Variegate Porphyria
Tachycardia OMIM:176200
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276556
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly, Hydrops fetalis, Abnormality of limb bone morphology, Limb undergrowt... ORPHA:2204
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Pulmonary edema, Hypotension, Shortened PR interval, Biventricular hype... OMIM:261740
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... OMIM:615344
Myofibrillar Myopathy 10
Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertrophy, Prolon... OMIM:619040
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Talipes equinovarus, Aplasia/Hypoplasia of ... ORPHA:52056
Congenital Aortic Valve Stenosis
Angina pectoris, Abnormal left ventricular function, Aortic valve calcification, Abnormal T-wave,... ORPHA:3093
Grange Syndrome
Syndactyly, Ventricular septal defect, Aortic regurgitation, Hypertension, Short palm ORPHA:79094
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy OMIM:530000
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... OMIM:310200
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrioventricular block, Cone-shaped epiphysis, Iliac crest serration, Arrhythmia, Rhizomelic arm ... ORPHA:93317
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Abnormal c... OMIM:127300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Hypertension, Oligohydramnios, Arrhythmia OMIM:617021
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... OMIM:619313
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... ORPHA:268
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... OMIM:617222
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Atrioventricular canal defect, Heart murmur, Ventri... ORPHA:97214
Chromosome 9P Deletion Syndrome
Atrial septal defect, Clinodactyly of the 4th toe, Tapered finger, Heart murmur, Ventricular sept... OMIM:158170
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Hypertrophic cardiomyopathy, Pericardial... OMIM:618775
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276575
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... OMIM:619566
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Right bundle branch block OMIM:616479
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276580
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Fetal Minoxidil Syndrome
Ventricular septal defect, Clinodactyly of the 5th finger ORPHA:1918
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Prolonged QTc interval ORPHA:231111
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Metaphyseal cupping, Hydrops fetalis, Micromelia, Hypoplasia of t... ORPHA:85166
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Atrioventricular canal defect, Ventricular septal defect, Cor triatriatum, Generali... OMIM:619534
Mungan Syndrome
Pulmonic stenosis, Tricuspid regurgitation, Perimembranous ventricular septal defect OMIM:611376
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Short metacarpal, Osteoarthritis, Micromelia, Synostosis of carpal bones, Upper limb u... ORPHA:93351
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Mmep Syndrome
Ventricular septal defect, Triphalangeal thumb, Split foot ORPHA:3434
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Hydrops fe... OMIM:212093
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Cardiac amyloidosis, Left ventricular outflow tract ... ORPHA:439232
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Tachycardia, Dilated cardiomyopathy, Syncope OMIM:615821
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
White Forelock With Malformations
Atrial septal defect OMIM:277740
Fibrochondrogenesis 1
Widely patent coronal suture, Widely patent sagittal suture, Short palm, Clinodactyly of the 5th ... OMIM:228520
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Syndactyly, Ventricular septal defect, Polyhydramnios, Duplication of phala... OMIM:263630
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Slender finger, Talipes equinovarus, Long fingers, H... OMIM:613355
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation, Postaxial ha... ORPHA:83473
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Abnormal morphology of the radius, Atrial septal defect ORPHA:3469
Achondrogenesis, Type Ib
Hypoplastic ilia, Hydrops fetalis, Micromelia, Polyhydramnios, Edema, Stillbirth, Breech presenta... OMIM:600972
Acromesomelic Dysplasia 4
Metaphyseal irregularity, Broad phalanx, Short toe, Radial bowing, Short metatarsal, Short metaca... OMIM:619636
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Palpitations, Tachycardia OMIM:188580
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect OMIM:619143
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle... ORPHA:1209
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Bradycardia, Atrial fibrillation, Proximal amyotrophy OMIM:614302
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Congenital Enterovirus Infection
Hydrops fetalis, Premature birth, Hypotension, Myocarditis, Polyhydramnios, Cardiomyopathy, Pleur... ORPHA:292
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... ORPHA:615
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Double inlet right ventricle, Atrial septal defect, Hypoplastic le... OMIM:619702
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dilatat... OMIM:615745
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Toe syndactyly ORPHA:251076
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Prolonged QT interval, Muscular ventricular septal defect ORPHA:66634
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Elbow flexion contracture, Cardiac conduction abnormalit... ORPHA:97244
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Hydrops fetalis, Neonatal death, Death in in... ORPHA:85212
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Miscarriage, Talipes equinovarus, Single umbilical artery, Hypoplastic ilia, ... ORPHA:1865
Gm1-Gangliosidosis, Type I
Hepatomegaly, Splenomegaly, Hydrops fetalis, Dilated cardiomyopathy, Death in infancy, Abnormal h... OMIM:230500
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy, Bradycardia OMIM:616277
Gitelman Syndrome
Abnormal T-wave, ST segment depression, Raynaud phenomenon, Chondrocalcinosis, Palpitations, Mate... ORPHA:358
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Brachydactyly, Abnormality of the ankles, Cuboidal me... ORPHA:968
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Weakness of facial musculature, Abnormal atrioventricular conduction, Limb muscle weakness, Skele... ORPHA:329336
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... OMIM:177170
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Hemothorax, Right ventricular failure, Elevated pulmonary artery pressure, Pedal... ORPHA:199241
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Hepatomegaly, Splenomegaly, Arthritis, Angioedema, Pleural effusion, Abnormal ... ORPHA:36412
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Brachydactyly, Ventricular septal... ORPHA:3449
Feingold Syndrome Type 1
Tricuspid atresia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Tricuspid stenosis, Short ... ORPHA:391641
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Increased muscle glycogen content, Tachycardia, ... ORPHA:368
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Death in infancy OMIM:619340
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Decreased fetal movement OMIM:616816
Atrophoderma Vermiculata
Heart block ORPHA:79100
16P13.11 Microduplication Syndrome
Atrial septal defect, Craniosynostosis, Arachnodactyly, Tetralogy of Fallot, Ventricular septal d... ORPHA:261243
Gitelman Syndrome
Palpitations, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Prolonged QT interval OMIM:263800
Brachydactyly, Type B1
Joint contracture of the hand, Delayed cranial suture closure, Syndactyly, Aplasia/Hypoplasia of ... OMIM:113000
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Clinodactyly of the 5th finger, Single transverse palmar crease, Decre... OMIM:619717
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Proximal placement of thumb, Supr... OMIM:618624
Adams-Oliver Syndrome 5
Right atrial enlargement, Splenomegaly, Pulmonic stenosis, Right ventricular hypertrophy, Brachyd... OMIM:616028
Ventricular Septal Defect 3
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Abnormality of the palmar creases, Ventricular sep... OMIM:618652
Mitochondrial Trifunctional Protein Deficiency
Hydrops fetalis, Arrhythmia, Prenatal maternal abnormality, Dilated cardiomyopathy, Abnormality o... OMIM:609015
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Absence Of The Pulmonary Artery
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Systolic hea... ORPHA:980
Okamoto Syndrome
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Splenomegal... ORPHA:2729
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Arrhythmia, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy OMIM:249270
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Death in infancy, Premature birth OMIM:618839
Myotonic Dystrophy 2
Premature ventricular contraction, Type 2 muscle fiber atrophy, Palpitations, Tachycardia, Weakne... OMIM:602668
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Pedal edema OMIM:126320
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Malignant Hyperthermia, Susceptibility To, 1
Rhabdomyolysis, Tachycardia, Hypotension OMIM:145600
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Long phalanx of finger, Ventricular sep... OMIM:117550
Combined Oxidative Phosphorylation Deficiency 40
Nonimmune hydrops fetalis, Neonatal death, Death in infancy, Hypertrophic cardiomyopathy, Prematu... OMIM:618835
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Hepatosplenomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Dilated cardiomyopat... ORPHA:367
Trisomy 13
Ectrodactyly, Atrial septal defect, Hydrops fetalis, Bilateral single transverse palmar creases, ... ORPHA:3378
Desbuquois Syndrome
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Genu recurvatum... ORPHA:1425
Trisomy 1Q
Arachnodactyly, Camptodactyly of finger, Hydrops fetalis, Ventricular septal defect, Polyhydramni... ORPHA:261344
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Atrial septal defect, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Syndactyly, Neonatal death, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Truncus... OMIM:228940
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect ORPHA:261295
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Rig... ORPHA:70591
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Heterotaxy, Visceral, 1, X-Linked
Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double outlet right ventr... OMIM:306955
Gm1 Gangliosidosis
Splenomegaly, Hepatosplenomegaly, Camptodactyly of finger, Hydrops fetalis, Premature birth, Vent... ORPHA:354
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Coffin-Siris Syndrome 10
Ventricular septal defect, Clinodactyly OMIM:618506
Noonan Syndrome 11
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:618499
Achondrogenesis, Type Ii
Hydrops fetalis, Short tubular bones of the hand, Polyhydramnios, Hypoplastic iliac wing, Edema, ... OMIM:200610
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
2-3 toe syndactyly, Atrial septal defect, Joint dislocation, Tricuspid regurgitation, Finger join... OMIM:618870
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Snakebite Envenomation
Muscle fiber necrosis, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cere... ORPHA:449285
Alkuraya-Kucinskas Syndrome
Overlapping toe, Talipes equinovarus, Adducted thumb, Cutaneous syndactyly, Overlapping fingers, ... OMIM:617822
Mosaic Trisomy 9
Atrial septal defect, Talipes equinovarus, Deep palmar crease, Camptodactyly of finger, Hydrops f... ORPHA:99776
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Single umbilical artery, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of t... ORPHA:2256
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Hydrops fetalis, Brachydactyly, Postaxial polysynd... OMIM:263520
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Talipes equinovarus, Joint contracture of the hand, Coronal craniosynostosi... OMIM:235510
Juvenile Idiopathic Arthritis
Joint swelling, Hepatomegaly, Joint dislocation, Splenomegaly, Arthritis, Abnormal joint morpholo... ORPHA:92
Alg12-Cdg
Clinodactyly of the 5th finger, Talipes equinovarus, Muscular ventricular septal defect, Overlapp... ORPHA:79324
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Prolonged QT interval... OMIM:610198
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation ORPHA:90647
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Splenomegaly, Brachydactyly, Syndactyly, Ventricular septal defect, Port... OMIM:616589
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Atrioventricular canal defect, Ventricular septal defect, Broad hallux, Clinodacty... ORPHA:508498
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Hypertension, Short metacarpal OMIM:112410
Fabry Disease
Angina pectoris, Abnormality of femur morphology, Telangiectasia of the skin, Bundle branch block... ORPHA:324
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... ORPHA:1120
Lymphatic Malformation 12
Fetal pericardial effusion, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Poly... OMIM:620014
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy ORPHA:335
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Micromelia, Polyhydramnios, Short foot, Short palm ORPHA:93299
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Achondrogenesis Type 1B
Talipes equinovarus, Thickened nuchal skin fold, Hydrops fetalis, Micromelia, Polyhydramnios, Sho... ORPHA:93298
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Pa... ORPHA:2847
Roifman Syndrome
Short toe, Clinodactyly of the 5th finger, Hepatomegaly, Splenomegaly, Premature birth, Brachydac... OMIM:616651
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Bilateral talipes equinovarus, B... OMIM:269250
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Bradycardia, Congestive heart failure OMIM:619048
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Oligohydramnios, Cardiomyopathy, Cardiomegaly OMIM:617713
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect OMIM:618496
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Edema, Decreased fetal movement OMIM:607598
Mgat2-Cdg
Hydrops fetalis, Brachydactyly, Arrhythmia, Ventricular septal defect, Reflex asystolic syncope, ... ORPHA:79329
Monosomy 13Q34
Pulmonic stenosis, Common atrium ORPHA:96168
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Death in childhood OMIM:613759
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis, Wormian bones... OMIM:166210
Mucopolysaccharidosis, Type Vii
Proximal tapering of metacarpals, Hepatomegaly, Talipes equinovarus, Narrow greater sciatic notch... OMIM:253220
Alg9-Cdg
Hepatomegaly, Enlarged kidney, Ventricular septal defect, Rhizomelia, Short long bone, Abnormal h... ORPHA:79328
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Splenomegaly, Fractures of the long bones, Hepatosplenomegaly, E... ORPHA:464329
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Arrhythmia, Arthropathy, Pleural effusion, Telangiectasia, Ascites, C... OMIM:235200
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Atrial septal defect, Muscular ventricular septal defect, Mitral regurgitation... OMIM:157800
Acromesomelic Dysplasia 2B
Short metatarsal, Brachydactyly, Short phalanx of finger, Deviation of finger, Rhizomelia, Deform... OMIM:228900
Isolated Succinate-Coq Reductase Deficiency
Abnormal left ventricular function, Left ventricular hypertrophy, Skeletal myopathy, Distal amyot... ORPHA:3208
Refsum Disease, Classic
Short fourth metatarsal, Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Diamond-Blackfan Anemia 6
Atrial septal defect, Mitral regurgitation, Tetralogy of Fallot, Ventricular septal defect, Mitra... OMIM:612561
Joubert Syndrome 18
Ventricular septal defect, Polydactyly, Camptodactyly OMIM:614815
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fontanelle, Broad... OMIM:311300
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Ogden Syndrome
Congenital hip dislocation, Enlarged kidney, Ventricular septal defect, Broad hallux, Sandal gap,... OMIM:300855
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... OMIM:617719
Brachydactyly-Arterial Hypertension Syndrome
Hypertension, Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Achondrogenesis
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Micromelia ORPHA:932
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Talipes equinovarus OMIM:209770
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Premature birth, Cardiomegaly OMIM:618838
Cardiac-Urogenital Syndrome
2-3 toe syndactyly, Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, ... OMIM:618280
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Toe clinodactyly, Toe syndactyly ORPHA:261120
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Brachydactyly, Short thumb, Limited elbow extension... ORPHA:401935
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Swan neck-like def... OMIM:616716
Polymyositis
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Arrhythmia, Vasculitis, Myoca... ORPHA:732
Ellis-Van Creveld Syndrome
Common atrium, Atrial septal defect OMIM:225500
Acquired Methemoglobinemia
Palpitations, Tachycardia, Arrhythmia, Syncope ORPHA:464453
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Overlapping toe, Atrial septal defect, Syndactyly, Camptodactyly,... OMIM:300963
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Ascites, Premature birth ORPHA:2123
Mcdonough Syndrome
Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect, Single... OMIM:248950
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Abnormal thumb morphology, ... ORPHA:324410
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Limited pronation/supination of forearm, Overlapping fingers, Hydrops fetalis, Radioulnar synosto... OMIM:616738
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Syncope ORPHA:324575