| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, La... |
ORPHA:324575 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizure... |
ORPHA:276556 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypogl... |
ORPHA:276580 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, De... |
ORPHA:276575 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Incre... |
ORPHA:276608 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... |
OMIM:619897 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
| Trimethylaminuria |
|
Splenomegaly, Tachycardia, Hypertension, Depression |
OMIM:602079 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration,... |
OMIM:255100 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:212138 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, H... |
OMIM:232700 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Progressive neurologic deterioration, Large for gestational age, Abnor... |
ORPHA:263455 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... |
ORPHA:45452 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Confusion, Splenomegaly, Depression, Hypertension |
OMIM:121300 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Ventri... |
ORPHA:263297 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia |
OMIM:608320 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... |
ORPHA:26793 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Hyperlysinemia, Cognitive impairment |
OMIM:238700 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm... |
ORPHA:860 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca... |
OMIM:601005 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... |
OMIM:246700 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
| Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... |
OMIM:300257 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Atrial Standstill 1 |
|
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... |
OMIM:108770 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
| Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... |
OMIM:620121 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Depression, Abnormal heart morphology, Dementia, Progressive language deterioration,... |
ORPHA:79264 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Patent foramen ovale, Hypoch... |
OMIM:610883 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Tachycardia, Palpitations, Weight loss |
OMIM:188580 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperamm... |
ORPHA:159 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia |
OMIM:605899 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
| Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Hepatomegaly, Hypocholesterolemia |
OMIM:610539 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h... |
ORPHA:35878 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder, Patent... |
OMIM:617182 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Arrhythmia |
ORPHA:35 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Congestive heart failure, Decreased plasma f... |
OMIM:619048 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... |
ORPHA:449285 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hepatomegaly, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Tachycardia, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase,... |
ORPHA:368 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| 16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Tachycardia, Hyperactivity, Abnormal heart morphology, Abnormal tricuspid valve morp... |
ORPHA:485405 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Tachycardia, Failure to thrive in infancy, Elevated c... |
ORPHA:264675 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:79230 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... |
OMIM:611705 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Tachycardia, Congestive heart failure, Increased total bilirubin |
ORPHA:90037 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Hypoglycemia, Irritability, Hyperuricemia, Fasting hypoglycemia, Hyper... |
ORPHA:348 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Memory impairment, Tachycardia, Obesity, Hyperglycemia |
OMIM:619737 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... |
OMIM:613507 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Failure to thrive in infancy, Increased circulating farnesol concentration... |
OMIM:618156 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev... |
OMIM:613327 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Tachycardia, Weight loss |
OMIM:613239 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Depression, Irritability, Att... |
OMIM:261600 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,... |
OMIM:602390 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
| Mercury Poisoning |
|
Tachycardia, Confusion, Anorexia, Hypertension, Hypokalemia, Hypotension |
ORPHA:330021 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:613313 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurolo... |
OMIM:300438 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Irritability, Tachycardia, Hypoglycemia, Hepatomegaly |
OMIM:229700 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171420 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis |
ORPHA:75563 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
| Cholera |
|
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Irritability, Hypokale... |
ORPHA:173 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hypertension, Bradycardia, Dysph... |
ORPHA:3299 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiac arrest, Oral-pharyngeal... |
OMIM:616878 |
| Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Confusion, Heart block, Elevated circulating creatinine concentration, Capillary lea... |
ORPHA:542323 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Hypertension, Agitation, Atrial septal defect |
OMIM:613870 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... |
OMIM:144250 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Confusion, Elevated circulating creatine kinase concentration, Cardiomegaly, Conges... |
OMIM:212140 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:232400 |
| Acquired Methemoglobinemia |
|
Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Tachycardia, Increased circulating thyroglobulin level, Small for gestational age |
OMIM:609152 |
| Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Tachycardia, Abnormal repetitive mannerisms, Hypot... |
ORPHA:79155 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Ventricular arrhythmia, Confusion, Depression, Abnormal left ventricular f... |
ORPHA:36913 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Cardiomegaly |
ORPHA:88643 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Anorexia, Congestive heart failure,... |
ORPHA:49827 |
| Double Outlet Right Ventricle |
|
Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Heart m... |
ORPHA:3426 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concen... |
OMIM:614921 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Brad... |
OMIM:614702 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... |
OMIM:231100 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Failure to thrive, Hypoch... |
OMIM:607765 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Hypoglycemia, Hyperammonemia, Elevated circu... |
OMIM:615160 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia, Cognitive impairment |
ORPHA:364 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Cardiomyocyte mitoch... |
ORPHA:423 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri... |
OMIM:540000 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Increased circulating ferritin concentration, Sple... |
OMIM:235200 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology |
DECIPHER:39 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly... |
ORPHA:247585 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
| Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
| Serotonin Syndrome |
|
Restlessness, Tachycardia, Confusion, Irritability, Hypertension, Agitation, Hypotension, Mental ... |
ORPHA:43116 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| Galactokinase Deficiency |
|
Psychomotor deterioration, Hepatomegaly, Small for gestational age, Hypoglycemia, Hyperinsulinemi... |
ORPHA:79237 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Progressive neurologic deterioration, Myocardial infarction, Cerebral hemorrhage, Congestive hear... |
ORPHA:90065 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Hype... |
OMIM:619386 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Restlessness, Ca... |
ORPHA:466677 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly... |
ORPHA:6 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Postprandial hyperglycemia, Failu... |
ORPHA:2089 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Confusion, Congestive heart failu... |
ORPHA:31826 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus, Depression |
OMIM:184850 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... |
OMIM:115197 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... |
ORPHA:3077 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity di... |
OMIM:617600 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Insulin resistance, Progressive psychomotor de... |
ORPHA:363400 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia |
ORPHA:79273 |
| Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... |
ORPHA:91547 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy... |
OMIM:615745 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Hypertrop... |
ORPHA:156 |
| Aceruloplasminemia |
|
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... |
OMIM:604290 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Cardiomegaly, Increased circulating ferriti... |
ORPHA:465508 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Increased total bilirubin |
ORPHA:90036 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Tachycardia, Confusion, Depression, Hypertension, Pseudobulbar paraly... |
ORPHA:79276 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... |
OMIM:613243 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ventricular tachycardia, Hypokalemia, Increased circulating ... |
OMIM:263800 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia |
OMIM:618810 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Confusion, Elevated circulating creatine kinase concentration, Myocarditis, E... |
ORPHA:36234 |
| Pheochromocytoma |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171300 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Tularemia |
|
Tachycardia, Confusion |
ORPHA:3392 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy |
ORPHA:335 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Diabetes mellitus, Aggressive behavior, Mitral valve prolaps... |
ORPHA:449291 |
| Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Attention deficit hyperactivi... |
OMIM:620141 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Hypoglycemia, Hyperuricemia |
OMIM:261750 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
| Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Tachycardia, Hypoglycemia, Elevated circulating creatine kinase concentratio... |
ORPHA:99826 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con... |
ORPHA:90051 |
| High Altitude Pulmonary Edema |
|
Tachycardia, Anorexia |
ORPHA:330012 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
| Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Irritability, Abnormality of iron homeostasis, Hypertrophic cardiomyo... |
ORPHA:848 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Aggressive behavior, Dilated cardiomyopathy, Irritability, Left ventricular hypertrophy |
OMIM:618321 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Aggressive behav... |
OMIM:252920 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Confusion, Epistaxis, Hematemesis, Hyperkalemia, Elevated circulating creatin... |
ORPHA:340 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Failure to thrive, Cardiomegaly, Congestiv... |
ORPHA:14 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden... |
OMIM:201475 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Impaired glucose tolerance, Elevated circulating creatine kinase concentration, Left bundle branc... |
OMIM:610131 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance,... |
ORPHA:73272 |
| Graft Versus Host Disease |
|
Tachycardia, Hepatosplenomegaly, Irritability, Hyperbilirubinemia, Failure to thrive |
ORPHA:39812 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Elevated circulating crea... |
OMIM:620300 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Secundum atrial septal defect, Dysphori... |
OMIM:620242 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, Hypoalbuminemia, Steatorrhea, F... |
OMIM:212065 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Alg12-Cdg |
|
Hyponatremia, Muscular ventricular septal defect, Biventricular hypertrophy, Recurrent hypoglycem... |
ORPHA:79324 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Increased total iron binding capacity, Increased... |
OMIM:616278 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, Hypotens... |
ORPHA:199296 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Congestive heart failure, Weight loss, Irritability, Polyphagia |
OMIM:275000 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia, Hypertension |
ORPHA:79473 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98855 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... |
ORPHA:766 |
| Rh Deficiency Syndrome |
|
Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:71275 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Tachycardia, Congestive heart failure |
ORPHA:90033 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98853 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Abnormal heart morphology, Hepato... |
ORPHA:505248 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive |
OMIM:614736 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferr... |
ORPHA:139507 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98863 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... |
OMIM:300952 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Bradyphrenia, Short attention span, Bundle branch block, Hyperactivity, First degree atrioventric... |
ORPHA:589821 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Fasting hypoglycemia |
OMIM:613027 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
| Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia, Depression |
OMIM:176000 |
| Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy... |
ORPHA:90363 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Congestive hear... |
OMIM:261740 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Small for gestational age, Abnormal heart morphology, Bradycardia, Hypotensi... |
ORPHA:391673 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... |
OMIM:619355 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Atrial fibrillation, Splenomegaly, Congestive heart failure, Irritab... |
ORPHA:525731 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hypocholesterolemia, Left ventricular hypertrophy, Coro... |
ORPHA:31150 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine... |
OMIM:618839 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Glycosuri... |
OMIM:616026 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Elevated circula... |
OMIM:618835 |
| Mirizzi Syndrome |
|
Tachycardia, Hyperbilirubinemia, Anorexia |
ORPHA:521219 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Obesity, Progressive language deterioration, Lo... |
ORPHA:163681 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro... |
OMIM:605676 |
| Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Hypoglycemia, Hyperammonemia |
OMIM:616483 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Diabetes mellitus, Elevated circulating creatine kinase concentration, Dilat... |
ORPHA:254892 |
| Familial Dysautonomia |
|
Hyponatremia, Hypertension, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Di... |
ORPHA:48818 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ventricula... |
OMIM:300855 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A... |
ORPHA:280365 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Hypertension, Arrhythmia |
ORPHA:139411 |
| Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Failure to thrive, Ventricular septal defect, Hypocholesterolemia |
OMIM:244450 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Splenomegaly, Weight loss, Syncope, Hypotension |
ORPHA:98849 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Hyperactivity, Ventricular septal defect, Aggressive behavior, Splenomegaly, Self-m... |
OMIM:270400 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Elevated circulating creatine kinase concentration, Premature ventricular contraction |
OMIM:617072 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
| Dubowitz Syndrome |
|
Short attention span, Hyperactivity, Hypocholesterolemia |
OMIM:223370 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia, Failure to thri... |
OMIM:610768 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... |
OMIM:618775 |
| Dominant Beta-Thalassemia |
|
Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, High-output congestive heart failu... |
ORPHA:231226 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Shortened ... |
ORPHA:79102 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Failure to thrive, Weight loss |
ORPHA:35858 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Salt craving, Hyperc... |
ORPHA:95409 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, High-output congestive heart failure, Hepatospleno... |
ORPHA:231222 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
| Steinert Myotonic Dystrophy |
|
Short attention span, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfu... |
ORPHA:273 |
| Gitelman Syndrome |
|
Maternal diabetes, Glucose intolerance, Hypocalcemia, Prominent U wave, Abnormal T-wave, Salt cra... |
ORPHA:358 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, High-output congesti... |
ORPHA:231214 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
| Illum Syndrome |
|
Calcinosis, Bradycardia |
OMIM:208155 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Weight loss |
ORPHA:71273 |
| Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia |
OMIM:207800 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Failure to thrive, Ventricular septal defect, Small for gesta... |
OMIM:222470 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Increased serum iron, Elevated ... |
ORPHA:300298 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Degcags Syndrome |
|
Hepatomegaly, Tachycardia, Failure to thrive, Ventricular septal defect, Small for gestational ag... |
OMIM:619488 |
| Plague |
|
Hepatomegaly, Tachycardia, Anorexia, Hematemesis, Splenomegaly, Endocarditis, Depression, Hypoten... |
ORPHA:707 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Hepatomegaly, Self-muti... |
ORPHA:2388 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, H... |
ORPHA:309854 |
| Legius Syndrome |
|
Short attention span, Hyperactivity, Paroxysmal atrial tachycardia, Mitral valve prolapse, Xanthe... |
ORPHA:137605 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Obesity |
ORPHA:1772 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Small for g... |
ORPHA:84064 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte... |
ORPHA:91347 |
| Sarcoidosis |
|
Hepatomegaly, Abnormal cardiac ventricular function, Hypercalcemia, Portal hypertension, Heart bl... |
ORPHA:797 |
| Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Cardiac myxoma, Hypertension, Congestive heart failure |
OMIM:181270 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Atrial septal defect... |
OMIM:309801 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Premature ventricular contraction, Hypertension, Decreased body weight... |
OMIM:602535 |
