Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... |
OMIM:611705 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... |
OMIM:614096 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Carvajal Syndrome |
|
Woolly hair, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... |
OMIM:255160 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619048 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... |
ORPHA:75566 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... |
OMIM:613313 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C... |
ORPHA:2414 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, ... |
OMIM:612098 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Cir... |
OMIM:602390 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... |
OMIM:618234 |
Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios |
OMIM:615731 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... |
ORPHA:860 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Ragged-red muscle fibers, Polyhydramnios |
OMIM:616794 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo... |
ORPHA:57777 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Nonimmune hydrops fetalis, ... |
ORPHA:367 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Fair hair, Cardiomegaly, Splenomegaly, Congestive heart failure, Hydrops fetalis, A... |
OMIM:269920 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges... |
OMIM:212140 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... |
ORPHA:563 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... |
ORPHA:324604 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Congestive heart failure, Sp... |
OMIM:235200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Congestive heart failure, Splenomegaly, Hydrops fetal... |
ORPHA:163596 |
Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia |
ORPHA:324588 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
Desminopathy |
|
Sudden cardiac death, Supraventricular arrhythmia, Congestive heart failure, Concentric hypertrop... |
ORPHA:98909 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Naxos Disease |
|
Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Congestive hear... |
ORPHA:34217 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1937 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... |
OMIM:615779 |
Naxos Disease |
|
Prolonged QRS complex, Cardiomegaly, Sudden cardiac death, Sparse eyebrow, Dilated cardiomyopathy... |
OMIM:601214 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Patent foramen ovale, Congestive heart fa... |
OMIM:616866 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, P... |
ORPHA:90308 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Highly arched eyebrow, Congestive heart ... |
ORPHA:500533 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
American Trypanosomiasis |
|
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomegaly, Lymp... |
ORPHA:3386 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur |
ORPHA:3400 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail... |
ORPHA:1194 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Congestive heart failure, Abnormality of skeletal mu... |
ORPHA:79083 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber size, Splenomegaly, ... |
ORPHA:2348 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... |
ORPHA:275766 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Myocarditis, Congestive ... |
ORPHA:206569 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension, Hypertr... |
ORPHA:1349 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Congestive heart failure, Abnormal heart morphology, Decreased liver fu... |
ORPHA:70472 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Peric... |
OMIM:253250 |
Sandhoff Disease |
|
Splenomegaly, Congestive heart failure, Hepatomegaly |
ORPHA:796 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
OMIM:606703 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural... |
ORPHA:330001 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... |
ORPHA:52430 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia |
ORPHA:157973 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Nonimmune hydrops fetalis, Abnormality of the musculature of the limbs, Lymphedema, Hi... |
ORPHA:137667 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Abnormality of the liver, Myocardial infarction |
ORPHA:132 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Low anterior hairline, Atrial septal ... |
ORPHA:363705 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hy... |
ORPHA:91131 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepat... |
ORPHA:465508 |
Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema, Camptodactyly of finger, Short neck, Congestive heart failur... |
ORPHA:261519 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... |
OMIM:609015 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... |
OMIM:301500 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Stillbirth, Camptodactyly, Neonatal death, Pulmonary arterial hypertension |
OMIM:619751 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Generalized hirsutism |
ORPHA:1918 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ventricular sep... |
OMIM:613759 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness |
OMIM:266500 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Short neck, Congestive heart failure, Splenomegaly... |
OMIM:230500 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... |
ORPHA:99901 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, L... |
OMIM:615895 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Congestive heart failure, Microvesicular hepatic steatosis, Dilate... |
OMIM:611126 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter |
OMIM:616816 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... |
ORPHA:99103 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure |
OMIM:301021 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Edema, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopat... |
OMIM:605676 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Highly arched eyebrow |
ORPHA:1388 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... |
OMIM:607598 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Cardiomyopathy, S... |
ORPHA:746 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
Noonan Syndrome 8 |
|
Atrial septal defect, Curly hair, Ventricular septal defect, Polyhydramnios, Short neck, Patent d... |
OMIM:615355 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... |
ORPHA:85446 |
Scimitar Syndrome |
|
Left-to-right shunt, Ventricular septal defect, Abnormal hemidiaphragm morphology, Dextrocardia, ... |
ORPHA:185 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c... |
ORPHA:565612 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect, Low anterior hairline |
OMIM:608227 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Hepatic steatosis, Myocardial infarction |
OMIM:615703 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Congestive heart failure, Low anterior hairline, Low posterior hairline, Skeletal m... |
ORPHA:528 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
8P23.1 Duplication Syndrome |
|
Highly arched eyebrow, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:615524 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Short neck, Congestive heart failure, Patent ductus arteriosus, Flexion contracture... |
OMIM:617303 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal ... |
OMIM:615279 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Patent ductus arter... |
ORPHA:354 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis |
OMIM:618624 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... |
ORPHA:280365 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan... |
ORPHA:26791 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g... |
OMIM:619259 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:608779 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... |
OMIM:616589 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Abnormal heart valve morphology, Short neck, Congestive heart failure, Splenomegaly... |
OMIM:309900 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Highly arched eyebrow, Sparse lateral eyebrow |
ORPHA:261120 |
Myofibrillar Myopathy 10 |
|
Prolonged QTc interval, Increased QRS voltage |
OMIM:619040 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal ... |
ORPHA:98908 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Hepatomegaly, Ventricular septal defect, Splenomeg... |
OMIM:616651 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Congestive heart f... |
ORPHA:67 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Congestive heart failure, Left ventricular hypertrophy, Hepatic fa... |
OMIM:619355 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Patent ductus arteriosus, Micr... |
OMIM:606003 |
Babesiosis |
|
Hepatomegaly, Myocardial infarction, Splenomegaly, Congestive heart failure, Jaundice, Hepatic fa... |
ORPHA:108 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
King-Denborough Syndrome |
|
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Short neck, Type 1 muscle ... |
OMIM:619542 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis |
ORPHA:1054 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Sinus bradycardia, Distichiasis |
OMIM:126320 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma |
ORPHA:141179 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Abnormality of the tonsils, Congestive heart failure, Splenomega... |
ORPHA:579 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis |
ORPHA:1296 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval |
ORPHA:99880 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
Parathyroid Carcinoma |
|
Shortened QT interval |
ORPHA:143 |
Cednik Syndrome |
|
Congestive heart failure |
ORPHA:66631 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... |
ORPHA:308552 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma |
ORPHA:141184 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, ... |
OMIM:619189 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Desbuquois Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short neck, Abnormal eyelash morphology, Apla... |
ORPHA:1425 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Splenomegaly, Patent du... |
OMIM:608149 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Atransferrinemia |
|
Congestive heart failure, Abnormality of the liver |
OMIM:209300 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Thick hair, Short neck, Congestive heart failure, Patent du... |
ORPHA:505248 |
Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios |
ORPHA:139466 |
Kawasaki Disease |
|
Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Edema, Myocarditis, Con... |
ORPHA:2331 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Short neck, Low posterior hairline, W... |
ORPHA:2345 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow |
OMIM:616898 |
Multiple Endocrine Neoplasia Type 1 |
|
Melena, Hypertension, Shortened QT interval, Hematemesis |
ORPHA:652 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... |
ORPHA:70591 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... |
OMIM:619167 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Short neck, Increased nuchal translucency, Patent ductus arteriosus, M... |
OMIM:615668 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracrani... |
ORPHA:3260 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia |
OMIM:249270 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... |
ORPHA:398124 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios |
ORPHA:3405 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Low posterior hairline,... |
OMIM:179613 |
Noonan Syndrome 9 |
|
Curly hair, Ventricular septal defect, Short neck, Sparse eyebrow, Pulmonic stenosis, Webbed neck |
OMIM:616559 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... |
OMIM:208085 |
Carney Complex, Type 1 |
|
Red hair, Cardiac myxoma, Congestive heart failure, Hirsutism |
OMIM:160980 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Webbed neck |
OMIM:601355 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Congestive... |
ORPHA:363618 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Low anterior hairline, Atrial septal defect, ... |
OMIM:612946 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Ventricular septal defect |
OMIM:613730 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Ventricular septal defect, Hepatomegaly |
OMIM:620210 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology |
ORPHA:254534 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Highly arched eyebrow |
ORPHA:94066 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Short neck, Congestive heart failure, ... |
OMIM:601808 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Thick hair, Polyhydramnios, Supernumerary nipple, Low anterior hairlin... |
OMIM:615102 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu... |
ORPHA:2326 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Fabry Disease |
|
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... |
ORPHA:324 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congest... |
ORPHA:423 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow |
ORPHA:228399 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop... |
ORPHA:682 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Splenomegaly, Congestive heart failure, Jaundice, Myopathy, Cholecystiti... |
OMIM:615512 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Hydrops fetal... |
OMIM:617022 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Low posterior hairline, Short neck |
OMIM:214300 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se... |
ORPHA:26793 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Short neck, Flexion contracture, Hydrops... |
OMIM:616897 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Atrial... |
ORPHA:290 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:1166 |
Aarskog-Scott Syndrome |
|
Congestive heart failure, High anterior hairline, Camptodactyly of finger, Short neck |
ORPHA:915 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Congestive heart... |
OMIM:203800 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Elevated circulating aspartate aminotransferase conc... |
OMIM:617253 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... |
OMIM:614921 |
Noonan Syndrome 10 |
|
Atrial septal defect, Curly hair, Ventricular septal defect, Short neck, Sparse eyebrow, Increase... |
OMIM:616564 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... |
ORPHA:3426 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Peritonitis, Vasc... |
ORPHA:727 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
Colchicine Poisoning |
|
Alopecia, Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogen... |
ORPHA:31824 |
Woods Syndrome |
|
Frontal hirsutism, Ventricular septal defect, Supernumerary nipple |
OMIM:615236 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Myocardial infarction, Raynaud phenom... |
ORPHA:91139 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Low posterior hairline, Hypoplastic lef... |
OMIM:220210 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Webbed neck, Truncus arteriosus, Ventricular septal defect, Short neck |
ORPHA:2516 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splen... |
ORPHA:525731 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Lymphade... |
ORPHA:85450 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Abnormal mesentery morphology, Ventricular septal defect, Polyhydramnios |
ORPHA:2256 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Hypersplenism, High-output congestive heart failure, Splenomegaly,... |
ORPHA:231226 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Alopecia totalis, Pericardial effusion, ... |
OMIM:618775 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Synophrys, Abnormal heart morphology, Atrial septal defect, Truncus ar... |
ORPHA:401935 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Congestive heart failure... |
ORPHA:33226 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... |
OMIM:602782 |
Filippi Syndrome |
|
Sparse hair, Frontal hirsutism, Ventricular septal defect, Hypertrichosis |
OMIM:272440 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Jau... |
OMIM:613404 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Ventricular septal defect, Facial hypotonia, Short neck, Low posteri... |
ORPHA:85194 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ... |
ORPHA:97214 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Acute pancreatitis, Elevated circulating aspartate aminotransfe... |
ORPHA:466677 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Camptodactyly, ... |
OMIM:619123 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Congestive heart failure, Elbow flexion contracture, Arterial rupture, Mit... |
ORPHA:1900 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of t... |
ORPHA:171 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Optic atrophy, Cardiomyopathy |
ORPHA:1177 |
Vici Syndrome |
|
Atrial septal defect, Hypopigmentation of hair, Albinism, Congestive heart failure, Dilated cardi... |
OMIM:242840 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Brittle hair, Palpebral edema, Diastasis recti, Cardiomegaly,... |
OMIM:252500 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Increased nuchal translucency, Ventricular septal defect, Thin eyebrow, Supernumerary nipple |
OMIM:617635 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic fai... |
OMIM:615630 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Avian Influenza |
|
Elevated hepatic transaminase, Congestive heart failure, Rhabdomyolysis, Hepatitis, Pleural effusion |
ORPHA:454836 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucen... |
OMIM:618870 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Joubert Syndrome 18 |
|
Intrahepatic biliary atresia, Ventricular septal defect, Camptodactyly |
OMIM:614815 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Aplasia of the right hemidiaphragm, Ventricular septal d... |
OMIM:608978 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Ventricular septal defect, Parachute mitral valve, Highly arched eyebrow, Patent... |
OMIM:618316 |
Spinal Arteriovenous Metameric Syndrome |
|
Lymphangioma, Congestive heart failure |
ORPHA:53721 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio... |
OMIM:603387 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ventricular septal defect, Fronta... |
ORPHA:506 |
Costello Syndrome |
|
Ventricular septal defect, Polyhydramnios, Short neck, Abnormal hair morphology, Mitral valve pro... |
ORPHA:3071 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Synophrys, Transposition of the great arteries, Atrial septal defect, ... |
ORPHA:1913 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Webbed neck, Atrial septal ... |
OMIM:617478 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic... |
OMIM:601186 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Xerostomia, Pulmonary ... |
ORPHA:220393 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoplasia of the musculature, Hypersplenism, High-output congestive heart failure,... |
ORPHA:231214 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Peau d'orange, Ventricular septal defect, Splenomega... |
OMIM:614576 |
Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Retroperitoneal fibrosis, Congestive heart failure, Joint swelli... |
ORPHA:35687 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bicuspid aortic valve, Ventricular septal defect, Short neck, Patent ductus arte... |
OMIM:121050 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Lymphangioma, Congestive heart failure |
ORPHA:137608 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
Noonan Syndrome 4 |
|
Curly hair, Ventricular septal defect, Polyhydramnios, Short neck, Sparse eyebrow, High anterior ... |
OMIM:610733 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly,... |
OMIM:615673 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Lymphedema, Short neck, Thyroid lymphang... |
OMIM:235255 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short neck, Low anterior hairline, Abnormal heart morphology, Macroglo... |
ORPHA:369891 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Tachycardia |
ORPHA:90037 |
Martsolf Syndrome 1 |
|
Cardiac arrest, Congestive heart failure, Low anterior hairline, Low posterior hairline, Cardiomy... |
OMIM:212720 |
Suleiman-El-Hattab Syndrome |
|
Thick eyebrow, Ventricular septal defect, Highly arched eyebrow, Synophrys, Webbed neck, Atrial s... |
OMIM:618950 |
Tetrasomy 5P |
|
Short neck, Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculature, Heart... |
ORPHA:3309 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... |
ORPHA:73224 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:619343 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... |
ORPHA:3342 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Short neck |
ORPHA:93267 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Abnormal hair whorl, Atrial septal defect, Patent foramen ovale, Right... |
OMIM:614261 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Short neck, Synophrys, Mitral regurgitation, Atr... |
ORPHA:254346 |
Noonan Syndrome 2 |
|
Curly hair, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Short neck, Sparse eyebro... |
OMIM:605275 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Camptodactyly of finger, Tricuspid stenosis, Congestive heart failure, Aortic valve... |
OMIM:231050 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Prune Belly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A... |
ORPHA:2970 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Highly arched eyebrow, Patent ductus arterios... |
OMIM:618142 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Alopecia, Ventricular septal defect |
ORPHA:85202 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Central diaphragmatic hernia, Bicuspid aortic valve |
OMIM:617450 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect |
OMIM:123700 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Congestive heart failure, Flexion contracture, Dehydration, Hepatic steatosis |
OMIM:616271 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Nonimmune hydrops fetalis, Thin skin |
OMIM:166210 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Low anterior ... |
OMIM:619909 |
Donnai-Barrow Syndrome |
|
Widow's peak, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:2143 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... |
ORPHA:3097 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Synophrys, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Congestive heart failure, Hepatomegaly |
ORPHA:75564 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Short neck, Synophrys, ... |
OMIM:614294 |
Heterotaxy, Visceral, 1, X-Linked |
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Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... |
OMIM:306955 |
Werner Syndrome |
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Skeletal muscle atrophy, Sparse scalp hair, Telangiectasia of the skin, Myocardial infarction, Co... |
ORPHA:902 |
22Q11.2 Duplication Syndrome |
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Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Tetralogy... |
ORPHA:1727 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
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Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly |
OMIM:301039 |
Hereditary Hemorrhagic Telangiectasia |
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Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Periventricular Nodular Heterotopia 7 |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
Galloway-Mowat Syndrome 7 |
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Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:618348 |
Tatton-Brown-Rahman Syndrome |
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Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Horizontal eyebrow, Atr... |
OMIM:615879 |
Listeriosis |
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Pericarditis, Liver abscess, Myocarditis, Congestive heart failure, Rhabdomyolysis, Jaundice, Per... |
ORPHA:533 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Patent ductus arteriosus... |
ORPHA:500159 |
Braddock-Carey Syndrome 1 |
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Curly hair, Aortic valve prolapse, Ventricular septal defect, Camptodactyly, Sparse hair |
OMIM:619980 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
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Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa... |
OMIM:618494 |
Weiss-Kruszka Syndrome |
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Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Dextrotransposition of t... |
OMIM:618619 |
Short Stature And Facioauriculothoracic Malformations |
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Ventricular septal defect, Short neck |
OMIM:609654 |
Coffin-Siris Syndrome 7 |
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Sparse scalp hair, Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foram... |
OMIM:618027 |
Ogden Syndrome |
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Torticollis, Ventricular septal defect, Fine hair, Cardiogenic shock, Arrhythmia, Aplasia/Hypopla... |
ORPHA:276432 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
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Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
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Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteriosus, Partial anomalous pu... |
OMIM:619657 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ... |
OMIM:120200 |
Atelis Syndrome 1 |
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Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Mosaic Trisomy 9 |
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Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Abnormal heart valve morphology... |
ORPHA:99776 |
Emanuel Syndrome |
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Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Pate... |
OMIM:609029 |
Aase-Smith Syndrome I |
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Flexion contracture, Ventricular septal defect |
OMIM:147800 |
Hutchinson-Gilford Progeria Syndrome |
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Congestive heart failure, Alopecia, Angina pectoris, Myocardial infarction |
OMIM:176670 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
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Alopecia, Brittle hair, Ventricular septal defect, Coarse hair, Nail dystrophy, Atrial septal defect |
ORPHA:75389 |
Autoimmune Hemolytic Anemia, Warm Type |
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Splenomegaly, Congestive heart failure, Tachycardia, Jaundice |
ORPHA:90033 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Cardiac arrest, Optic atrophy, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomy... |
OMIM:616878 |
Brachydactyly, Type B1 |
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Joint contracture of the hand, Ventricular septal defect, Camptodactyly |
OMIM:113000 |
Pontocerebellar Hypoplasia, Type 8 |
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Ventricular septal defect, Synophrys, Long eyelashes, Arthrogryposis multiplex congenita, Patent ... |
OMIM:614961 |
Syndromic Diarrhea |
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Aortic regurgitation, Hepatomegaly, Hypopigmentation of hair, Brittle hair, Ventricular septal de... |
ORPHA:84064 |
Abetalipoproteinemia |
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Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, He... |
ORPHA:14 |
Skraban-Deardorff Syndrome |
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Ventricular septal defect, Sparse lateral eyebrow |
OMIM:617616 |
Weill-Marchesani Syndrome 2 |
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Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... |
OMIM:608328 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... |
OMIM:170390 |
Atrial Standstill 2 |
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Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Pentalogy Of Cantrell |
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Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr... |
ORPHA:1335 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Congestive heart failure |
ORPHA:3077 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Atrial septal defect, Ne... |
OMIM:265380 |
Truncus Arteriosus |
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Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... |
ORPHA:3384 |
Autosomal Dominant Coarctation Of Aorta |
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Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Burn-Mckeown Syndrome |
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Atrial septal defect, Ventricular septal defect, Hypomimic face |
OMIM:608572 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
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Prolonged QT interval, Abnormal EKG, Arrhythmia, Optic atrophy |
ORPHA:480864 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di... |
ORPHA:477817 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
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Ventricular septal defect, Highly arched eyebrow, Short neck, Flexion contracture, Long eyelashes... |
OMIM:617452 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Atrial septal defect, Increased size of nasopharyngeal adenoids, Patent ductus arteriosus, Ventri... |
OMIM:619769 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
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Laterally extended eyebrow, Ventricular septal defect, Highly arched eyebrow, Secundum atrial sep... |
OMIM:600987 |
Diabetic Embryopathy |
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Ventricular septal defect, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ... |
ORPHA:1926 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
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Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Patent ductus arteriosus... |
ORPHA:329224 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Abnormal ... |
OMIM:301056 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Sp... |
OMIM:256040 |
Ethylene Glycol Poisoning |
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Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, C... |
OMIM:618280 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck |
OMIM:612938 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Psoriasiform dermatitis, Ventricular septal defect, Polyhydramnios, Hematochezia, Hypoplasia of t... |
OMIM:243150 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:1923 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ... |
OMIM:617403 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Hypoplastic Left Heart Syndrome 2 |
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Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Patent ductus arteriosus... |
OMIM:617751 |
Trisomy 1Q |
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Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:261344 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Curly hair, Brittle hair, Ventricular septal defect, Polyhydr... |
OMIM:222470 |
3C Syndrome |
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Ventricular septal defect, Abnormal mitral valve morphology, Short neck, Abnormal tricuspid valve... |
ORPHA:7 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Short neck, Splenomegaly, Pancreatic lym... |
ORPHA:1655 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:71212 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Ventricular septal defect, Supernumerary nipple, Patent ductus arteriosus, Atrial septal defect, ... |
ORPHA:2519 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Atrial septal defect,... |
OMIM:616777 |
Dilated Cardiomyopathy With Ataxia |
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Prolonged QT interval, Dilated cardiomyopathy, Optic atrophy |
ORPHA:66634 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Pelger-Huet Anomaly |
|
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness |
OMIM:169400 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Ventricular septal defect, Limb joint contracture, Highly arched eyebrow, Short neck, Long eyelas... |
ORPHA:505237 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Ventricular septal defect, Thick hair, Highly arched eyebrow, Congestive heart failur... |
ORPHA:444077 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure |
OMIM:275000 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Synophrys, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Telangiectasia, Frontal upsweep ... |
OMIM:612582 |
Kury-Isidor Syndrome |
|
Alopecia, Ventricular septal defect, Hypertrichosis, Short neck |
OMIM:619762 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atr... |
ORPHA:488618 |
Aceruloplasminemia |
|
Torticollis, Congestive heart failure, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis,... |
ORPHA:48818 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Tetralogy of Fallot, Transpositi... |
OMIM:201000 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short neck, Congestive heart failure, Small thenar... |
OMIM:105650 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia |
OMIM:613327 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Short neck, Congestive heart failure, Hypertension, Ischemic stroke, C... |
ORPHA:1830 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Limb hypertonia |
OMIM:616920 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Thick eyebrow, Ventricular septal defect, Patent ductus arteriosus, Synophrys, ... |
OMIM:617061 |
Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Ventricular septal defect |
OMIM:616901 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, High-output congestive heart failure, Jaund... |
ORPHA:231222 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure |
ORPHA:508542 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Ventricular septal defect |
ORPHA:79243 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... |
ORPHA:435638 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Ventricular septal defect, Sparse eyelashes, Abnormality of hair texture, Nail dyst... |
OMIM:234050 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Short neck, Patent ductus arteriosus, Heart mur... |
OMIM:158170 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
ORPHA:2255 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure, Generalized hirsutism, Edema |
ORPHA:2505 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin skin... |
ORPHA:217346 |
Emanuel Syndrome |
|
Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma... |
ORPHA:96170 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect, Exocrine pancreatic insufficiency |
ORPHA:452 |
Insulin-Like Growth Factor I, Resistance To |
|
Sparse scalp hair, Ventricular septal defect, Highly arched eyebrow, Synophrys, Webbed neck, Atri... |
OMIM:270450 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Congestive heart failure, Hepatitis, Renovascular hypertension, Hepatosplenomegaly, Pulmonary art... |
ORPHA:391487 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short neck, Patent ductus arteriosus, Low pos... |
OMIM:244300 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s... |
OMIM:619418 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Sparse axillary hair, Sparse pubic hair, Cardiac myxoma, Congestive heart failur... |
OMIM:181270 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspl... |
OMIM:270100 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Anasarca, Exocrine pancreatic insufficiency |
OMIM:260450 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Ventricular septal defect, Absent eyelashes, Heart murmur |
ORPHA:166035 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
Trisomy 13 |
|
Ventricular septal defect, Abnormal eyelash morphology, Patent ductus arteriosus, Hydrops fetalis... |
ORPHA:3378 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, High anterior hairline |
OMIM:613680 |
Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Short neck |
OMIM:615583 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Supernumerary ... |
ORPHA:457279 |
Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... |
ORPHA:79329 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Aortopulmonary window, Pulmonary arteria... |
OMIM:620025 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Webbe... |
OMIM:609942 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Contractures of the large joints, Ventricular septal defect |
ORPHA:3078 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, Ven... |
OMIM:614866 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Skeletal muscle atrophy, Alopecia, Telangiectasia of the skin, Abnormal h... |
ORPHA:79474 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple |
ORPHA:46627 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Congenital diaphragm... |
OMIM:600001 |
Codas Syndrome |
|
Extrahepatic biliary duct atresia, Ventricular septal defect |
ORPHA:1458 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common... |
OMIM:619702 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Tricuspid regurgitation, Ventricular septal defect, Slow-growing hair, Polyhydramnios... |
OMIM:617506 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Broad eyebrow, Abnormal heart morphology |
ORPHA:494344 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Alagille Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Cholestasis, Hypertension, R... |
ORPHA:52 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Ventricular septal defect, Highly arched eyebrow, Polyhydramnios, Low posterior hairl... |
OMIM:617360 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Short neck |
ORPHA:2328 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Polyhydramnios, Congestive heart failure, Microvesicular hepatic s... |
OMIM:617156 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Psoriasiform dermatitis, Ventricular septal defect, Polyhydramnios, Hepatitis, Hy... |
ORPHA:436252 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Short neck, Elbow flexion contract... |
OMIM:178110 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... |
ORPHA:79102 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, H... |
OMIM:182250 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Ventricular septal defect, Patent ductus arteriosus, Synophrys, Hy... |
OMIM:620113 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Polyhydramnios |
OMIM:219730 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Pulmonary arterial hypertension, Optic nerve hypoplasia |
OMIM:620029 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Bile duct proliferation, Ventricular septal defect |
OMIM:611134 |
Chops Syndrome |
|
Curly hair, Ventricular septal defect, Thick hair, Splenomegaly, Patent ductus arteriosus, Synoph... |
OMIM:616368 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Edema, Short neck, Splenomegaly, Patent ... |
OMIM:269860 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect, Highly arched eyebrow |
OMIM:614424 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Transposition of the grea... |
ORPHA:1780 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Low anterior hairline, Highly arched eyebrow, Abnormal heart morphology |
ORPHA:404440 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Curly hair, Sparse scalp hair, Ventricular septal defect, Polyhydramnios, S... |
OMIM:607721 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Patent ductu... |
OMIM:106260 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Thick hair, Polyhydramnios, Supernumerary nipple, Flexion contracture,... |
OMIM:605039 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Low posterior hairl... |
OMIM:300963 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Laterally extended eyebrow, Thick eyebrow, Ventricular septal defect, Bicuspid aortic valve, High... |
OMIM:610759 |
Incontinentia Pigmenti |
|
Alopecia, Telangiectasia of the skin, Camptodactyly of finger, Supernumerary nipple, Abnormal hai... |
ORPHA:464 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Low anterior hairline |
OMIM:220500 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Highly arched eyebrow, Short neck, Synophrys, Sp... |
OMIM:609460 |
Filippi Syndrome |
|
Ventricular septal defect, Supernumerary nipple |
ORPHA:3255 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Oligohydramnios |
ORPHA:411709 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... |
OMIM:601992 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Curly hair, Ventricular septal defect, Polyhydramnios, Splenomegaly, Patent ductus ... |
OMIM:618268 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot... |
OMIM:115470 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Abnormal hair pattern |
ORPHA:1770 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Alg9-Cdg |
|
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the ... |
ORPHA:79328 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Camptodactyly of finger, Ventricular septal defect, Long eyelashes, Atrial septa... |
ORPHA:2008 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect, Hirsutism, Short neck |
OMIM:620073 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Ventricular septal defect, Congenital diaphragmatic hernia, Thin s... |
OMIM:617602 |
Marfan Syndrome |
|
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... |
OMIM:154700 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Neonatal death, Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616482 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Short neck, Low posterior hairline, Mitral sten... |
ORPHA:96201 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval |
OMIM:300352 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Congestive heart failure, Pedal edema |
ORPHA:247353 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios |
OMIM:611812 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect, Short neck |
OMIM:610832 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Aplasia of the pectoralis major muscle, Breas... |
ORPHA:3138 |
Radio-Tartaglia Syndrome |
|
Thick eyebrow, Ventricular septal defect, Highly arched eyebrow, Long eyebrows, Synophrys, Low an... |
OMIM:619312 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Short neck |
ORPHA:52055 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Short neck |
OMIM:609053 |
Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failu... |
ORPHA:91347 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... |
ORPHA:358 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Sparse hair |
OMIM:616449 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Congestive heart failure, Dilatation of the ventricular cavity, Abnormal cardiac ventricular func... |
ORPHA:90349 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Flexion contracture, Ventricular septal defect |
OMIM:619306 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal hair pattern, Highly arched eyebrow, Dilated cardiomyopathy, ... |
ORPHA:261250 |
Short Stature-Micrognathia Syndrome |
|
Skeletal muscle hypertrophy, Ventricular septal defect |
OMIM:617164 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... |
OMIM:614653 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Foot joint contracture, Short neck, Sparse eyebrow, Mitral valve prola... |
ORPHA:444072 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl... |
ORPHA:373 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Mac... |
ORPHA:96191 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sparse eyebrow, Ventricular septal defect, Supernumerary nipple, Congenital diaphragmatic hernia |
OMIM:612530 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... |
OMIM:142900 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Broad eyebrow, Ventricular sept... |
OMIM:619475 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger |
ORPHA:2876 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Short neck, Patent d... |
OMIM:616894 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Polyhydramnios |
OMIM:615503 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Short neck, Patent ductu... |
OMIM:130720 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital ... |
ORPHA:1692 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Widow's peak, Ventricular septal defect, Highly arched eyebrow |
OMIM:145420 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Asplenia, Patent... |
OMIM:164280 |
X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Ventricular septal defect, Abnormal hair whorl, Patent ductus arteriosus, ... |
ORPHA:163956 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Alopecia, Ventricular septal defect, Camptodactyly of finger, Diastasis re... |
ORPHA:2092 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Thick eyebrow, Ventricular septal defect, Diastasis recti, Short neck, S... |
ORPHA:488632 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Sparse hair, Subvalvular aortic stenosis, Atrial... |
OMIM:614114 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Webbed neck, Atrial septal defect,... |
ORPHA:209905 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Hepatomegaly, Alopecia, Myocarditis, Congestive heart failure, Spleno... |
ORPHA:3385 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Highly arched eyebrow, Supernumerary nipple, Sy... |
ORPHA:261494 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1908 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Abnormal hair morphology, Patent ductus arter... |
ORPHA:96167 |
Sotos Syndrome |
|
Ventricular septal defect, Sparse eyebrow, Muscular ventricular septal defect, Patent ductus arte... |
OMIM:117550 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:222448 |
Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve |
OMIM:616652 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, P... |
OMIM:300998 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe... |
ORPHA:904 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormality of hair texture, Patent ductus arte... |
OMIM:610443 |
Teebi-Shaltout Syndrome |
|
Ventricular septal defect, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Campt... |
OMIM:272950 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Ventricular septal defect, Short neck |
ORPHA:251038 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Ventricular septal defect |
OMIM:618021 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve, Sparse lateral eyebrow |
OMIM:619103 |
Costello Syndrome |
|
Curly hair, Ventricular septal defect, Rhabdomyosarcoma, Polyhydramnios, Short neck, Achilles ten... |
OMIM:218040 |
Loeys-Dietz Syndrome 5 |
|
Scapular winging, Decreased muscle mass, Ventricular septal defect, Patent foramen ovale, Mitral ... |
OMIM:615582 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Alopecia, Ventricular septal defect, Subvalvular aortic stenosis |
OMIM:613001 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... |
ORPHA:466650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Flexion contracture, Ventricular septal defect |
OMIM:309520 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Ventricular septal defect, Short neck |
OMIM:300472 |
Distal Deletion 19P |
|
Alopecia, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve atresia, Thick eye... |
ORPHA:96129 |
Coffin-Siris Syndrome 4 |
|
Sparse scalp hair, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglos... |
OMIM:614609 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di... |
OMIM:613309 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Thick hair, Low anterior hairline, Premature graying of hair, Macroglo... |
ORPHA:769 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypertension, H... |
OMIM:100300 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Short neck, Sparse eyebrow, Fine hair, Mitral valve prolapse |
OMIM:616202 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:617159 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Ventricular septal defect, Sparse eyebrow, Atrial septal defect, Pulmonary art... |
ORPHA:464738 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Hydrops fetalis, Hepatic... |
OMIM:263520 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:610338 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Highly arched eyebrow, S... |
OMIM:257920 |
Zellweger Syndrome |
|
Hepatomegaly, Jaundice, Hepatic failure, Ventricular septal defect |
ORPHA:912 |
Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic... |
OMIM:619991 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Short neck, Micro... |
OMIM:300855 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Ventricular septal defect, Short neck |
OMIM:300514 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, Long eyelashes,... |
OMIM:606232 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Ventricular septal defect, Short neck, Long eyelashes, Sparse hair, Hirsutism |
OMIM:212066 |
Parkes Weber Syndrome |
|
Subarachnoid hemorrhage, High-output congestive heart failure, Abnormal lymphatic vessel morpholo... |
ORPHA:90307 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:277600 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia |
ORPHA:268249 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure, Mitral valve prolapse |
ORPHA:558 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval |
ORPHA:94089 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Polyhydramnios, Short neck, Aplasia of the ... |
OMIM:229850 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Sparse hair, High anterior hairline |
OMIM:250410 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... |
OMIM:264480 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Mitral regu... |
ORPHA:90348 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Low posterior hairline, Short neck |
ORPHA:2789 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Paten... |
ORPHA:464311 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Congestive heart failure... |
ORPHA:2108 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Facial palsy, Truncus arteriosus, Ventricular septal... |
ORPHA:508498 |
Okamoto Syndrome |
|
Facial hypertrichosis, Ventricular septal defect, Splenomegaly, Abnormal left ventricle morpholog... |
ORPHA:2729 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right... |
ORPHA:2209 |
C Syndrome |
|
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect |
OMIM:211750 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... |
OMIM:620024 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Palpebral edema, Pat... |
ORPHA:261337 |
De Barsy Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Patent ductus arteriosus, Thin skin, Sparse hair |
ORPHA:2962 |
Holoprosencephaly |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ... |
ORPHA:2162 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:261236 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Highly arched eyebrow, Supernumerary ... |
OMIM:618454 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Hyphema, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:221900 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Ventricular septal defect, Camptodactyly of finger, Slow-growing hair, ... |
ORPHA:2710 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracrani... |
ORPHA:163979 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Congestive heart failure, Arrhythmia, Hypotension |
ORPHA:428 |
Myhre Syndrome |
|
Ventricular septal defect, Short neck, Pericardial effusion, Patent ductus arteriosus, Generalize... |
OMIM:139210 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Camptodactyly of finger, Highly arched eyebrow, ... |
ORPHA:261330 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Ventricular septal... |
ORPHA:79345 |
Coffin-Siris Syndrome |
|
Sparse scalp hair, Thick eyebrow, Ventricular septal defect, Hepatoblastoma, Patent ductus arteri... |
ORPHA:1465 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology,... |
ORPHA:289 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Short neck, Abnormal hair morphology, Synophr... |
ORPHA:251014 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Webbed neck,... |
ORPHA:3380 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:280000 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Telangiectasia, Hematochezia, Mitral valve prolapse, Mitral regurgitation, Hepatic art... |
OMIM:175050 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Mitral stenosis, Camptoda... |
OMIM:143095 |
Cohen Syndrome |
|
Ventricular septal defect, Thick hair, Abnormal eyelash morphology, Low anterior hairline, Mitral... |
ORPHA:193 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Frontal upsweep of hair, Ventricular septal defect |
OMIM:617798 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Ventricular septal defect, Mitral stenosis, Short neck, Splenomegaly, Patent ductus... |
ORPHA:955 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Facial palsy, Polyhydramnios, Patent ductus arteriosus, Webbed neck, C... |
OMIM:300373 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval |
ORPHA:79444 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Atrial septal defect, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular... |
ORPHA:466791 |
Den Hoed-De Boer-Voisin Syndrome |
|
Widow's peak, Ventricular septal defect, Thick eyebrow, Oligohydramnios |
OMIM:619229 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... |
OMIM:190685 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:214100 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Fine hair, Ventricular septal defect, Short neck |
ORPHA:251028 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios |
OMIM:600373 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter... |
ORPHA:464306 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypertension |
ORPHA:79443 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Situs ... |
ORPHA:2461 |
Trichothiodystrophy |
|
Sparse scalp hair, Brittle hair, Multiple joint contractures, Ventricular septal defect, Cardiomy... |
ORPHA:33364 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Edema of the ... |
OMIM:274000 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
Jacobsen Syndrome |
|
Ventricular septal defect, Short neck, Abnormal eyelash morphology, Flexion contracture, Atrial s... |
OMIM:147791 |
Dpagt1-Cdg |
|
Diffuse optic disc pallor, Prolonged QT interval, Optic atrophy, Intracranial hemorrhage |
ORPHA:86309 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... |
ORPHA:85443 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep... |
OMIM:607323 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Thin skin |
OMIM:225400 |
Degcags Syndrome |
|
Polyhydramnios, Synophrys, Low anterior hairline, Premature graying of hair, Atrial septal defect... |
OMIM:619488 |
Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Sparse eyebrow, Sparse hair, Thin skin, Atrial septal defect |
OMIM:244450 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Pulmonic stenosis |
ORPHA:529962 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Sparse anterior scalp hai... |
ORPHA:96121 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... |
OMIM:187300 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Macroglossia, Ventricular septal defect, Patent foramen ovale |
OMIM:613457 |
Chromosome 16P13.3 Duplication Syndrome |
|
Facial hypotonia, Ventricular septal defect, Short neck, Synophrys, Low anterior hairline, Webbed... |
OMIM:613458 |
Diets-Jongmans Syndrome |
|
Polyhydramnios, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:618846 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... |
ORPHA:2473 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Poly... |
ORPHA:567 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Short neck, Lymphedema, Patent ductus arteriosus, Low posterior hairli... |
OMIM:163950 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe... |
OMIM:236680 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Sparse scalp hair, Ventricular septal defect, Shoulder flexion contracture, Spar... |
OMIM:210710 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus, Widow's peak, Atrial ... |
ORPHA:1519 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Nonimmune hydrops fetalis, Short neck, Low anterior hairline, Abnormal... |
ORPHA:124 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Coarse hair, S... |
ORPHA:1071 |
Thauvin-Robinet-Faivre Syndrome |
|
Macroglossia, Ventricular septal defect, Pedal edema, Mitral valve prolapse |
OMIM:617107 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Optic atrophy, Telangiectasia |
ORPHA:93400 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Widow's pea... |
ORPHA:2745 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Pulmonic stenosis, Supravalvar pulm... |
OMIM:620185 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Increased nuchal transluc... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Increased nuchal transluc... |
ORPHA:352665 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Polyhydramnios, Hepatoblastoma, Atrial septal defect, Hepatomega... |
OMIM:312870 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Sparse scalp hair, Ventricular septal defect, Bicuspid aortic valve, Short nail, Short neck, Flex... |
OMIM:271640 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Atr... |
ORPHA:3047 |
Marshall-Smith Syndrome |
|
Brittle hair, Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus, Synophr... |
OMIM:602535 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Curly eyelashes, Highly a... |
OMIM:122470 |
Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Mosaic Trisomy 16 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:1708 |
Carney Complex |
|
Neoplasm of the pancreas, Cardiac myxoma, Congestive heart failure, Hypertension, Hepatocellular ... |
ORPHA:1359 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Synophrys, Flexion contracture, Knee flexion contracture, Diaphragmatic eventratio... |
OMIM:619503 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Absent gallbladder, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300712 |
Opitz Gbbb Syndrome |
|
Widow's peak, Ventricular septal defect |
OMIM:300000 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... |
OMIM:249420 |
Phace Association |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606519 |
Limb Body Wall Complex |
|
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph... |
ORPHA:2369 |
Autosomal Recessive Robinow Syndrome |
|
Alopecia, Ventricular septal defect, Camptodactyly of finger, Abnormal pulmonary valve morphology... |
ORPHA:1507 |
Jacobsen Syndrome |
|
Ventricular septal defect, Short neck, Annular pancreas, Hypoplastic left heart, Webbed neck, Aor... |
ORPHA:2308 |
Rubinstein-Taybi Syndrome 1 |
|
Polyhydramnios, Flexion contracture, Low anterior hairline, Hepatic hemangioma, Atrial septal def... |
OMIM:180849 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Short neck, Absent eyelashes, Patent ductus arteriosus... |
OMIM:256520 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Fetal ascites, Polyhydramnios, Patent ductus arteriosus, Hypoplastic l... |
ORPHA:141127 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Sparse scalp hair, Fair hair, Ventricular septal defect, Elevated circulating aspar... |
OMIM:243800 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Curly hair, Ventricular septal defect, Sparse eyebrow, ... |
OMIM:617140 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale |
OMIM:618748 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Long neck, Dysplastic tricuspid valve, Ventricular septal defect |
ORPHA:1724 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia |
ORPHA:1772 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Elbow flexion contracture, W... |
OMIM:117650 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Secundum atrial septal defect, Patent ductus ar... |
OMIM:616268 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Ventricular septal defect |
OMIM:619575 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Webbed neck |
ORPHA:1393 |
Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Ventricular septal defect |
OMIM:227645 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Ventricular septal defect, Sparse eyelashes, Polyhydramnios, Cardiomegaly, Spa... |
ORPHA:3472 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Ventricular septal defect, Congenital diaphragmatic hernia, Short neck,... |
ORPHA:818 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:619525 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Interphalangeal joint contracture of fi... |
ORPHA:96334 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope |
ORPHA:230 |
Hajdu-Cheney Syndrome |
|
Thick eyebrow, Ventricular septal defect, Short nail, Short neck, Patent ductus arteriosus, Synop... |
OMIM:102500 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Hi... |
ORPHA:97360 |
Chime Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Fine hair, Transposition of the great arteries, S... |
ORPHA:3474 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Highly arched eyebrow, Short neck, Comple... |
ORPHA:508488 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Hypertension, Po... |
OMIM:609049 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu... |
OMIM:118450 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Sparse hair, Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Intraventricular... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Intraventricular... |
ORPHA:363958 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Synophrys, Ventricular septal hypertrophy, Thin eyebrow, Oligohydramnios |
OMIM:608670 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:600460 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Highly arched eyebrow, Synophrys, Par... |
OMIM:301044 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Short neck, Thin eyebrow, Camptodactyly |
OMIM:616145 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Flexion contracture, Double ou... |
OMIM:300166 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction |
ORPHA:268 |
Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:192430 |
Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure |
ORPHA:94147 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... |
ORPHA:268261 |
Dextrocardia |
|
Abnormal EKG, T-wave inversion |
ORPHA:1666 |
Pallister-Hall Syndrome |
|
Neonatal death, Patent ductus arteriosus, Ventricular septal defect |
OMIM:146510 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Lower-limb joint... |
ORPHA:459070 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Patent ductus arteriosus, Widow's peak, Annular pancreas, Patent foram... |
OMIM:616975 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:881 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... |
ORPHA:363700 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Hypertension, Ch... |
OMIM:270400 |
Acrofacial Dysostosis 1, Nager Type |
|
Sparse lower eyelashes, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus... |
OMIM:154400 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... |
ORPHA:500095 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Decreased muscle mass, Ventricular septal defect, Highly arched eyebrow, Biliar... |
OMIM:194190 |
Renpenning Syndrome 1 |
|
Brittle hair, Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Sparse hair... |
OMIM:309500 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Esophageal Atresia |
|
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios |
ORPHA:1199 |
Alström Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, M... |
ORPHA:64 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Sparse axillary hair, Elbow flexion contracture, Hypoplastic nipples, ... |
OMIM:181450 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short nail |
OMIM:150250 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... |
ORPHA:353281 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... |
OMIM:214800 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Supernumerary nipple |
OMIM:613884 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Short nec... |
OMIM:268300 |
Alzahrani-Kuwahara Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement |
OMIM:619268 |
Keutel Syndrome |
|
Hypertension, Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Patent ductus arteriosus, Generalized muscle hyp... |
OMIM:235730 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ... |
OMIM:607872 |
Omodysplasia 1 |
|
Atrial septal defect, Ventricular septal defect, Short neck |
OMIM:258315 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... |
ORPHA:353277 |
Peters-Plus Syndrome |
|
Facial hypertrichosis, Ventricular septal defect, Diastasis recti, Polyhydramnios, Short neck, Bi... |
OMIM:261540 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:438213 |
Cornelia De Lange Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Curly eyelashes, Highly a... |
ORPHA:199 |
Digeorge Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Abnormal thymus morphology, Hy... |
OMIM:188400 |
Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Bicuspid aortic valve, Ventricular septal defect, Portal hypertens... |
OMIM:194050 |
Orofaciodigital Syndrome Type 14 |
|
Webbed neck, Patent ductus arteriosus, Ventricular septal defect, Short neck |
ORPHA:434179 |
Viss Syndrome |
|
Sparse scalp hair, Epidural hemorrhage, Alopecia, Ventricular septal defect, Coronary sinus enlar... |
OMIM:619472 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Lower-limb joint contracture, Ventricular septal defect, Sparse lateral eyebrow |
ORPHA:513456 |
Femoral-Facial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Penile Agenesis |
|
Atrial septal defect, Ventricular septal defect, Oligohydramnios |
ORPHA:49 |
Coffin-Siris Syndrome 1 |
|
Facial hypertrichosis, Sparse scalp hair, Dry hair, Ventricular septal defect, Congenital diaphra... |
OMIM:135900 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Transien... |
ORPHA:2929 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect |
ORPHA:1934 |
Genitopatellar Syndrome |
|
Hip contracture, Sparse scalp hair, Ventricular septal defect, Polyhydramnios, Knee flexion contr... |
OMIM:606170 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Patent ductus arteriosus, Ventricular septal defect, Abnormal locati... |
ORPHA:141099 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Flexion... |
OMIM:601803 |
Sotos Syndrome |
|
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Sparse anterior scalp hair... |
ORPHA:821 |
Kabuki Syndrome 1 |
|
Ventricular septal defect, Highly arched eyebrow, Sparse eyebrow, Prominent eyelashes, Atrial sep... |
OMIM:147920 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Absent nipple, Ventricular septal defect, Sparse eyelashes, Polyhydramnios, Sp... |
OMIM:216340 |
Vater/Vacterl Association |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... |
OMIM:192350 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Distal arthrogryposis, Atrial septal defect,... |
ORPHA:672 |
Orofaciodigital Syndrome Xiv |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615948 |
Neuroocular Syndrome |
|
Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:619539 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect, Short neck |
OMIM:620330 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Highly arc... |
ORPHA:261552 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619522 |
Norrie Disease |
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Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy |
ORPHA:649 |
Townes-Brocks Syndrome 1 |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
Craniofacial Microsomia 1 |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of facial mu... |
OMIM:164210 |
1P36 Deletion Syndrome |
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Abnormal eyebrow morphology, Abnormal heart valve morphology, Camptodactyly of finger, Abnormalit... |
ORPHA:1606 |