Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
Atrial Standstill 1 |
|
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... |
OMIM:108770 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... |
OMIM:108950 |
His Bundle Tachycardia |
|
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
ORPHA:3283 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:601494 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Dilated c... |
OMIM:613694 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Arrhythmia, Abnormal EKG |
OMIM:300376 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... |
OMIM:113900 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Increased left ven... |
OMIM:613697 |
Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Palpitations, Atrioventricular block, Atrial arrhythmia, Absent P wave, Fir... |
OMIM:310300 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Cardiac arrest, Dilated cardiomyopathy, Hypertrophic cardiomyopathy... |
OMIM:612158 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Holt-Oram Syndrome |
|
Absent thumb, Abnormal carpal morphology, Secundum atrial septal defect, Phocomelia, Limited elbo... |
OMIM:142900 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... |
ORPHA:45452 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... |
OMIM:601493 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Holt-Oram Syndrome |
|
Atrioventricular canal defect, Absent thumb, Phocomelia, Ventricular septal defect, Abnormality o... |
ORPHA:392 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent forearm, Aplasia of metacarpal bones, S... |
OMIM:200500 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... |
OMIM:616201 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... |
OMIM:181350 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... |
OMIM:610476 |
Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Aplasia of the ulna, Hand oligodactyly, Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Atrioventricular block, Arrhythmia |
ORPHA:85447 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... |
OMIM:611705 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... |
OMIM:613838 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome |
OMIM:617182 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... |
OMIM:613507 |
Epiphyseal Dysplasia, Baumann Type |
|
Metaphyseal irregularity, Genu valgum, Aplasia of metacarpal bones, Narrow pelvis bone, Clinodact... |
OMIM:610797 |
Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Atrial septal defect, Brachydacty... |
ORPHA:52056 |
Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Atrial Fibrillation, Familial, 3 |
|
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... |
OMIM:607554 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Ataxia, Gait disturbance, Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... |
OMIM:261740 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Patellar dislocation, Tibial torsion, Abnormal cardiac... |
ORPHA:3320 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Rhizomelia, Malaligned carpal bone, Short metacarpa... |
OMIM:228900 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism, Delayed phalangeal epiphyseal ossification, Flat capital femoral epiphysis, Na... |
OMIM:603546 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... |
ORPHA:85170 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... |
OMIM:612098 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block |
ORPHA:480 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation |
OMIM:615378 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia |
OMIM:618453 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... |
OMIM:246570 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Short Qt Syndrome 1 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... |
OMIM:609620 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... |
OMIM:115195 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Mitral ... |
OMIM:615373 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... |
OMIM:614022 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... |
OMIM:115000 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia |
ORPHA:1055 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Arrhythmia |
OMIM:310095 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Nemaline Myopathy 11, Autosomal Recessive |
|
First degree atrioventricular block, Cardiomyopathy |
OMIM:617336 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
Atrial Standstill 2 |
|
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... |
OMIM:615745 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Radial deviation of the hand, Micrognathia, Met... |
ORPHA:2756 |
Ivic Syndrome |
|
Absent thumb, Short femur, Pectoralis major hypoplasia, Short 1st metacarpal, Carpal synostosis, ... |
OMIM:147750 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil... |
OMIM:112910 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Broad foot... |
OMIM:609441 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Patent ductus arteriosus, Radial club hand, Short 5th finger, Hypoplasia of the radi... |
ORPHA:1972 |
Brugada Syndrome 7 |
|
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Genu recurvatum, Delaye... |
OMIM:177170 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... |
OMIM:609040 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
Ulnar Hemimelia |
|
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... |
ORPHA:93320 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Increased carrying ang... |
OMIM:127300 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Glycogen Storage Disease Ii |
|
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Shortened PR interval, S... |
OMIM:232300 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... |
OMIM:615344 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Atrial Fibrillation, Familial, 15 |
|
Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation |
OMIM:615770 |
Fanconi Anemia, Complementation Group U |
|
Patent ductus arteriosus, Aplasia of the 1st metacarpal, Absent thumb, Hypoplasia of the radius, ... |
OMIM:617247 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Patellar disloc... |
OMIM:274000 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti... |
ORPHA:137675 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... |
ORPHA:457395 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome |
ORPHA:542306 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Distal foot symphalangism, Short phalanx of finger, Absent trapezoid bone, Absent trapezium, Apla... |
OMIM:606895 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Syndactyly, Prolonged ... |
OMIM:601005 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Clubbing of fingers, Pulmonary artery dilatation, Palpitations, Peripheral... |
ORPHA:99106 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Coxa vara, Abnormal foot morphology, Elbow flexion contracture, Flared iliac wing, Flat acetabula... |
OMIM:184252 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Premature ventricular contraction, Ventricular tachycardia, Atrioven... |
OMIM:212138 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block |
OMIM:609438 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbow dis... |
OMIM:108720 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... |
OMIM:300257 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, A... |
OMIM:171480 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
Phocomelia, Schinzel Type |
|
Hydrops fetalis, Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognath... |
ORPHA:2879 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Delayed closure of the anterior fontanelle, Abnormal foot morphology, Hip dislocatio... |
OMIM:605274 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Congestive heart failure, Aortic regurgitation, Premature ventricular contraction, Shortened PR i... |
OMIM:620066 |
Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
Leiomyoma Of Vulva And Esophagus |
|
Clitoral hypertrophy |
OMIM:150700 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Cardiomyopathy, Abnormal left ventricular function, Heart block |
ORPHA:98912 |
Dystonia 23 |
|
Arrhythmia |
OMIM:614860 |
Monosodium Glutamate Sensitivity |
|
Palpitations |
OMIM:231630 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... |
ORPHA:300751 |
Angioosteohypotrophic Syndrome |
|
Upper limb undergrowth, Hypoplasia of the radius, Abnormal foot morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Metaphyseal Anadysplasia |
|
Abnormal ulnar metaphysis morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radi... |
ORPHA:1040 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,... |
OMIM:612124 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Tapered finger, Short femoral neck, Patellar dislocation, Multiple join... |
OMIM:618395 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Heart murmur, Hypertrophic cardiomyopathy, Shortened ... |
ORPHA:308552 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Congenital fibrosis of extraocular muscles, Carpal bone aplasia, P... |
OMIM:609428 |
Eiken Syndrome |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Broad foot, Abnormal fingertip morp... |
ORPHA:79106 |
Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... |
OMIM:224700 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Congestive heart failure |
OMIM:619048 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... |
OMIM:276820 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block |
OMIM:300695 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Postaxial Tetramelic Oligodactyly |
|
Ectrodactyly, Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyly |
ORPHA:2730 |
Ulnar-Mammary Syndrome |
|
Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Ventricular septal defec... |
OMIM:181450 |
Lyme Disease |
|
Atrioventricular block, Arrhythmia |
ORPHA:91546 |
Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Abnormal carpal morpholog... |
ORPHA:2632 |
Boomerang Dysplasia |
|
Neonatal death, Hypoplastic iliac body, Fibular aplasia, Absent radius |
OMIM:112310 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Angina pect... |
ORPHA:85451 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... |
OMIM:612422 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Cardiomyopathy, Congestive heart failure, Arrhythmia |
OMIM:616198 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Orofaciodigital Syndrome X |
|
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia |
OMIM:165590 |
Faciocardiomelic Dysplasia, Lethal |
|
Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasi... |
OMIM:227270 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval |
OMIM:614947 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Right bundle branch block, T-wave inversion, Ventricular tachycardia, Palpitations, Arrhythmia, S... |
ORPHA:263297 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Third degree atrioventricular block, Conotruncal defect, Abnormali... |
ORPHA:40366 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Left ventricular systolic dysfunction, Dilated cardiomyopathy |
ORPHA:206559 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon... |
ORPHA:398124 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
46,Xx Sex Reversal 4 |
|
Ambiguous genitalia, Fused labia majora, Penoscrotal hypospadias, Gonadal dysgenesis, Ovotestis, ... |
OMIM:617480 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... |
ORPHA:66529 |
Dyggve-Melchior-Clausen Disease |
|
Broad foot, Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus,... |
OMIM:223800 |
Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Abnormal finger morphology, Aplasia of the pectoralis major muscle, Abno... |
ORPHA:3138 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Heart block |
ORPHA:1964 |
Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
Symmetrical Thalamic Calcifications |
|
Arrhythmia |
ORPHA:1314 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Coarse metaphyseal trabecularization, Abnormal pelvic girdle bone morphology, White forelock, Ost... |
ORPHA:2779 |
Atrial Fibrillation, Familial, 1 |
|
Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 2 |
|
Atrial fibrillation |
OMIM:608988 |
Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
Atrial Fibrillation, Familial, 12 |
|
Paroxysmal atrial fibrillation |
OMIM:614050 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... |
ORPHA:216694 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... |
OMIM:255160 |
Hypomelia With Mullerian Duct Anomalies |
|
Longitudinal vaginal septum, Uterus didelphys |
OMIM:146160 |
Boomerang Dysplasia |
|
Polyhydramnios, Aplasia/Hypoplasia of the fibula, Hydrops fetalis, Aplasia/Hypoplasia of the abdo... |
ORPHA:1263 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cardiomyopathy, Abnormal EKG |
ORPHA:1177 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration |
OMIM:618287 |
Thyrotoxic Periodic Paralysis |
|
Impaired myocardial contractility, Shortened PR interval, Prolonged QT interval, Palpitations, Se... |
ORPHA:79102 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver |
OMIM:235550 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Elbow dislocation, Hypoplasia of the ulna,... |
ORPHA:2634 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Metaphyseal irregularity, Genu valgum, Genu varum, Short foot, Coxa vara, ... |
OMIM:250420 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... |
ORPHA:439 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... |
ORPHA:99103 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Myotonic Dystrophy 1 |
|
Atrial flutter, First degree atrioventricular block, Atrial fibrillation |
OMIM:160900 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Abnormal hand morphology, Sclerotic cranial sutures, Ventricular s... |
ORPHA:371428 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hip subluxation, Genu valgum, Reduced pancreatic beta cells, Coxa valga, Hypoplasia of the odonto... |
OMIM:226980 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Cardiomyopathy |
ORPHA:320360 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia... |
ORPHA:1570 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... |
ORPHA:98855 |
Radial Hemimelia |
|
Deviation of the hand or of fingers of the hand, Aplasia of the 1st metacarpal, Abnormality of th... |
ORPHA:93321 |
Brugada Syndrome 4 |
|
Shortened QT interval, Atrial fibrillation, Syncope |
OMIM:611876 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy, Mucinous histiocytosis |
ORPHA:158025 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Cardiomegaly, Abnormal cardiac ventricular functi... |
ORPHA:1677 |
Mucolipidosis Iii Alpha/Beta |
|
Short ribs, Short long bone, Irregular carpal bones, Carpal bone hypoplasia, Aortic regurgitation... |
OMIM:252600 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Hypoplastic iliac wing, Short toe, Flexion contracture, Short foot, Shor... |
OMIM:611717 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Fixed elbow flexion, Micrognathia, Fragmented ... |
ORPHA:166016 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy |
ORPHA:60026 |
Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Hand polydactyly, Atrial septal... |
OMIM:249670 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... |
ORPHA:570 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Arrhythmia |
ORPHA:99944 |
Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... |
ORPHA:98853 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Muscle fiber splitting, Abnormal cardiac septum morphology, Pes cavus, Abnormal left ventricular ... |
ORPHA:437572 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... |
ORPHA:2041 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Microgn... |
ORPHA:90652 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Coxa vara, Short tubular bones of the hand, Short long bone, Short greater sciatic n... |
OMIM:184253 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... |
ORPHA:79094 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... |
OMIM:612965 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont... |
ORPHA:98863 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... |
ORPHA:3104 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Preaxial hand polydactyly, Toe syndactyly, Micrognathia, Preaxial foot polydact... |
OMIM:277170 |
Cousin Syndrome |
|
Hypoplastic iliac wing, Wrist flexion contracture, 2-3 toe syndactyly, Hypoplastic pubic bone, Rh... |
OMIM:260660 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... |
OMIM:615184 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Prolonged PR interval, Atrial fibrillation |
OMIM:108900 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Absent forearm, Micrognathia, Clinodactyly, O... |
OMIM:201170 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia |
OMIM:616949 |
Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... |
ORPHA:563 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Oligodactyly |
OMIM:614416 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
Testicular Regression Syndrome |
|
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... |
ORPHA:983 |
Atelosteogenesis Type Iii |
|
Short tibia, Hand clenching, Polyhydramnios, Vertebral hypoplasia, Short tubular bones of the han... |
ORPHA:56305 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... |
OMIM:206920 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi... |
OMIM:601214 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Atrial fibrillation, Hypertro... |
OMIM:613690 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
Cln3 Disease |
|
T-wave inversion, Bradycardia |
ORPHA:228346 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the upper limb, Clinodactyly of the 5th finger, Atrial septal defect, Oligodactyly... |
ORPHA:521308 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia |
ORPHA:35 |
Heart Block, Congenital |
|
Mitral regurgitation, Atrioventricular block, Absent atrioventricular node, Atrial arrhythmia, Ca... |
OMIM:234700 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Right bundle branch block, Cerebral ischemia, Congestive heart failure, Arr... |
ORPHA:1880 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Polyhydramnios, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Ventricular septal defect, S... |
ORPHA:2256 |
Liddle Syndrome |
|
Hypertension, Cerebral ischemia, Arrhythmia |
ORPHA:526 |
Brachydactyly Type A1 |
|
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... |
ORPHA:93388 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
Cleft Palate, Isolated |
|
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Short toe, Genu valgum, Third degree atrioventricular block, Metaphyseal... |
OMIM:619636 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Cardiac arrest |
OMIM:618951 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... |
OMIM:251230 |
Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Breast aplasia, Arachnodactyly |
OMIM:612242 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... |
OMIM:164900 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
Cenani-Lenz Syndrome |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... |
ORPHA:3258 |
Kearns-Sayre Syndrome |
|
Cardiomyopathy, Third degree atrioventricular block, Arrhythmia |
OMIM:530000 |
Feingold Syndrome 2 |
|
2-3 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, Short midd... |
OMIM:614326 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C... |
OMIM:614473 |
Atrial Fibrillation, Familial, 6 |
|
Elevated left ventricular end-diastolic diameter, Atrial fibrillation, Reduced left ventricular e... |
OMIM:612201 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, A... |
ORPHA:26793 |
Baller-Gerold Syndrome |
|
Absent thumb, Aplasia of metacarpal bones, Micrognathia, Short humerus, Aphalangy of the hands, L... |
OMIM:218600 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short femoral neck, Short metacarpal, Narrow pelvis bone, Carpal bone hypoplasia, Femoral bowing,... |
OMIM:616723 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Rhizomelic arm shortening, Iliac crest serration, Myocarditis, Short metacarpal, Atrioventricular... |
ORPHA:93317 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Arrhythmia |
OMIM:616516 |
Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Vaginal atresia, Hypospadias |
OMIM:605231 |
Cleft Palate-Lateral Synechia Syndrome |
|
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth |
ORPHA:2016 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Abnormality of the wrist, Abnorm... |
ORPHA:1307 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Concentric hypertrophi... |
OMIM:618052 |
Otoonychoperoneal Syndrome |
|
Knee flexion contracture, Aplasia/Hypoplasia of the fibula, Hip contracture, Ankle flexion contra... |
OMIM:259780 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Bradycardia, Arrhythmia |
OMIM:609286 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Abnormal hand morphology, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... |
ORPHA:34217 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Arthritis... |
ORPHA:1937 |
Craniosynostosis, Adelaide Type |
|
Carpal bone malsegmentation, Hallux valgus, Shortening of all distal phalanges of the fingers, Co... |
OMIM:600593 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Polyhydramnios, Atrioventricular canal defect, Short humerus, Hand polydactyly, Dextrocardia, Pro... |
OMIM:314390 |
Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep... |
OMIM:615297 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Midsystolic murmur, Hypertension, Congestive heart failure, Firs... |
OMIM:600309 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Bradycardia |
OMIM:610015 |
Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Congestive heart failure, Clubbing of fingers, Edema, Ventricular tachyca... |
OMIM:605676 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Weismann-Netter Syndrome |
|
Abnormality of the humerus, Femoral bowing, Squared iliac bones, Abnormality of tibia morphology,... |
ORPHA:3344 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Femur-Fibula-Ulna Complex |
|
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... |
ORPHA:2019 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Ring Chromosome 4 Syndrome |
|
Abnormal morphology of ulna, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Spl... |
ORPHA:1447 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect, Toe syndactyly, Brachydactyly, Short thumb, Short middle phalanx of fi... |
ORPHA:391646 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Abnormality of the wrist, Split hand, Micromelia, Postaxial hand polyda... |
ORPHA:2491 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, Hypoplasia of the radius, Micrognathia, Hand oligodactyly, Proximal placement of th... |
OMIM:602418 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Patent ductus arteriosus, Delayed closure of the anterior fontanelle,... |
OMIM:300373 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Cardiomyopathy, Arrhythmia |
OMIM:612999 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of fibula morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Ap... |
ORPHA:1837 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... |
OMIM:250460 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:300696 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Wide intermamillary distance, Flared iliac wing, Micrognathia, Campt... |
OMIM:252500 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
46,Xy Sex Reversal 6 |
|
Gonadoblastoma, Sex reversal, Hypospadias, Chordee, Gonadal dysgenesis, Clitoral hypertrophy, Dys... |
OMIM:613762 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Camptodactyly, Widely patent coronal suture, Narrow greater sciatic no... |
OMIM:228520 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Radial club hand, Asymmetric radial dysplasia, Abnormality of th... |
ORPHA:2878 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy |
OMIM:310200 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Mahvash Disease |
|
Palpitations |
OMIM:619290 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Isolated Split Hand-Split Foot Malformation |
|
Split hand, Absent hand, Finger syndactyly, Oligodactyly |
ORPHA:2440 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... |
OMIM:176240 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Tetanus |
|
Tachycardia, Bradycardia, Hypertension |
ORPHA:3299 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Radioulnar synostosis, Clino... |
ORPHA:2633 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Arrhythmia |
OMIM:617021 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Hypertension, Arrhythmia |
ORPHA:3222 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... |
ORPHA:174 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Transient ischemic attack, Left-to-right ... |
ORPHA:99104 |
Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Polyhydramnios, Micrognathia, Tetraphocomelia, Elbow fle... |
OMIM:268300 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Abnormal eyebrow morphology, Acroosteolysis of distal phalanges (feet), Absent eyelashe... |
ORPHA:90153 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Hydrocolpos, Uterus didelphys, Abnormal uterine cervix morphology |
ORPHA:3411 |
Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... |
ORPHA:1991 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left ventricular ejection fraction |
OMIM:613876 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Elbow flexion contracture, Dislocated radial head, Forearm undergrowth, Pes planus, Absent proxim... |
OMIM:249600 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri... |
OMIM:613873 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... |
ORPHA:422 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular outflow tract obstruction, Heart murmur, Transient ischemic attack, Hypertrophic... |
ORPHA:365 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia |
ORPHA:157973 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... |
OMIM:609945 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block |
ORPHA:589821 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Clitoral hypertrophy |
OMIM:264270 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... |
OMIM:614980 |
Acrorenal Syndrome |
|
Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of... |
ORPHA:971 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Arrhythmia |
ORPHA:2928 |
Microcephaly-Cardiomyopathy Syndrome |
|
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Ventricular septal defect |
ORPHA:2515 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Hypertension, Congestive heart failure, Abnormal left ventricular... |
OMIM:540000 |
Endove Syndrome, Limb-Only Type |