| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Ketotic hypoglycemia, Smal... |
ORPHA:324575 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Maternal diabetes, Syncope... |
ORPHA:276580 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulatin... |
OMIM:620058 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Decreased circulating free... |
ORPHA:276575 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Elevated circulating cre... |
OMIM:615184 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy |
ORPHA:3283 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Reactive hy... |
ORPHA:276608 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Supraventricular tachycardia,... |
OMIM:255100 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
| Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
| Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Cognitive impairment, Ectopia lentis |
OMIM:238700 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Ele... |
OMIM:604765 |
| Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... |
OMIM:610476 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Cardiac arrest, Neonatal hypoglycemia, Elevated circulating... |
OMIM:212138 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... |
OMIM:614954 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrat... |
OMIM:600649 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Large for gestational age, Abnormal circu... |
ORPHA:263455 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypoglycemia, Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Failure t... |
OMIM:232700 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
| Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Abnormal circulating creatine kinase concentration, Ventricular hypertrophy, Right bundle branch ... |
ORPHA:263297 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Maternal ... |
ORPHA:45452 |
| Familial Dilated Cardiomyopathy |
|
Abnormal circulating creatine kinase concentration, Elevated pulmonary artery pressure, Reduced l... |
ORPHA:217607 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Pericardial effusion, Elevated circulating creatine kinase concentratio... |
ORPHA:26793 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... |
OMIM:612124 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
| Atrial Fibrillation, Familial, 15 |
|
Sudden cardiac death, Supraventricular tachycardia, Left atrial enlargement, Atrial flutter, Atri... |
OMIM:615770 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... |
OMIM:246700 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Diabetes mellitus, Myocardial infarction, Hypercholesterolemia, Obesity |
OMIM:608320 |
| Hemochromatosis, Type 4 |
|
Impaired glucose tolerance, Elevated transferrin saturation, Diabetes mellitus, Cataract, Increas... |
OMIM:606069 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Developmental cataract, Failure to thrive, Decreased HDL... |
OMIM:616834 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... |
ORPHA:860 |
| Trimethylaminuria |
|
Hypertension, Splenomegaly, Tachycardia |
OMIM:602079 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
| Coproporphyria, Hereditary |
|
Splenomegaly, Hypertension, Hepatomegaly, Anxiety, Tachycardia |
OMIM:121300 |
| Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
| Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Cognitive impairment, Severely reduc... |
OMIM:300257 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
| Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
| Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
| Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
| Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Ventricular arrhythmia, Conjunctival icterus, Hepatomegal... |
ORPHA:57777 |
| Myotonic Dystrophy 2 |
|
Right bundle branch block, Insulin insensitivity, Type II diabetes mellitus, Elevated circulating... |
OMIM:602668 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Atrial Standstill 1 |
|
Paroxysmal atrial fibrillation, Atrial standstill, Premature atrial contractions, Atrial cardiomy... |
OMIM:108770 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration,... |
OMIM:145600 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity, Hypertension, Congestive heart failure, M... |
OMIM:615703 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
| Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Splenomegaly, Hepatomegaly |
OMIM:610539 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Palpitations, Tachycardia, Weight loss |
OMIM:188580 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoketotic hypoglycemia, Hypotension, Elevated circulating acylcarnitine concentration, Decrease... |
ORPHA:159 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Type II diabetes mellitus, Elevated transferrin satu... |
OMIM:620121 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Catara... |
OMIM:261600 |
| Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Restlessness |
OMIM:605899 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cognitive impairment, Anxiety, Motor deterioration, Dementia, Emotional lability, Abnormal heart ... |
ORPHA:79264 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
| Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Cataract, Increased circulating ferritin concentration, Elevat... |
ORPHA:254704 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Decreased body weight, Sick sinus syndrome, Bicuspid aortic valve, Failure to thrive, Ventricular... |
OMIM:616201 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
| Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... |
ORPHA:1329 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... |
ORPHA:79237 |
| Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Megalocornea, Right bundle branch block, Ventricular septal defect,... |
ORPHA:137675 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, S... |
ORPHA:101016 |
| Potocki-Lupski Syndrome |
|
Patent foramen ovale, Hyperactivity, Small for gestational age, Atrial septal defect, Failure to ... |
OMIM:610883 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hyperalaninemia, Decreased plasma free carnitine, Left ventricular hyper... |
OMIM:619048 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hyperactivity, Anxiety, Atrial septal defect, Failure to thrive, Attention deficit hyperactivity ... |
ORPHA:485405 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia, Hepatomegaly, Arrhythmia, Cardiomyopathy |
ORPHA:35 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Highly elevated creatine kinase, Elevated circulating creatine kinase concentration, Hypertrophic... |
ORPHA:368 |
| Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Myocardial infarction, Abnormality of venous physiology, Abnormal c... |
ORPHA:90064 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
| Snakebite Envenomation |
|
Neuromuscular dysphagia, Hypotension, Cerebral ischemia, Pseudobulbar paralysis, Cardiogenic shoc... |
ORPHA:449285 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Tachycardia |
OMIM:221400 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Hepatomegaly, Mental deterioration |
OMIM:615924 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Ambiguous atr... |
ORPHA:216694 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Developme... |
OMIM:540000 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia,... |
ORPHA:348 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Obesity, Memory impairment, Tachycardia |
OMIM:619737 |
| Hemochromatosis Type 2 |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Dilated cardiomyopathy, Diabete... |
ORPHA:79230 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy... |
OMIM:611705 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Asymmetric septal hypertrophy, Conges... |
OMIM:600858 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Elevated carcinoembryonic antigen level, Abnormal circulating protein concentration, Failure to t... |
ORPHA:264675 |
| Squalene Synthase Deficiency |
|
Decreased LDL cholesterol concentration, Bicuspid aortic valve, Irritability, Elevated circulatin... |
OMIM:618156 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Tachycardia, Congestive heart failure, Splenomegaly |
ORPHA:90037 |
| Autoimmune Hypoparathyroidism |
|
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Ventricular arrhythmia, Cataract... |
ORPHA:36913 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety |
OMIM:619031 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Insulin resistance, Elevated circulating creatine kinase concentration, Failure... |
OMIM:613327 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Cataract, Truncal obesity |
ORPHA:75858 |
| Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperprolinemia |
OMIM:239500 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Tachycardia, Weight loss |
OMIM:613239 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... |
OMIM:615517 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
| Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Cardiomyocyte hy... |
OMIM:613507 |
| Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
| Hemochromatosis, Type 2B |
|
Increased serum iron, Elevated transferrin saturation, Congestive heart failure, Increased circul... |
OMIM:613313 |
| Hsd10 Mitochondrial Disease |
|
Aggressive behavior, Elevated circulating tiglylglycine concentration, Agitation, Hypertrophic ca... |
OMIM:300438 |
| Hemochromatosis, Type 2A |
|
Increased serum iron, Dilated cardiomyopathy, Congestive heart failure, Increased circulating fer... |
OMIM:602390 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... |
OMIM:115000 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Insulin resistance, Failure to thrive, Hypoglycemia, Truncal obesity, ... |
ORPHA:181393 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale, Hyperactivity, Attention deficit hyperactivity disorder, Bradycardia, Sick ... |
OMIM:617182 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Irritability, Tachycardia, Hepatomegaly |
OMIM:229700 |
| Tetanus |
|
Hypertension, Elevated circulating creatine kinase concentration, Dysphagia, Bradycardia, Tachyca... |
ORPHA:3299 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Hypercalcemia, Ep... |
OMIM:171420 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
| Cholera |
|
Hypotension, Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hypovolemic shock, Hypo... |
ORPHA:173 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Elevated circulating acylcarnitine concentration, Cardiac arrest, Elevated ci... |
OMIM:616878 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Hypertension, Atrial septal defect, Agitation, Tachycardia |
OMIM:613870 |
| Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Hypoglycemia, Prolonged QT interval, Cardiomegal... |
OMIM:601005 |
| X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... |
ORPHA:85451 |
| Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
| Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, Hepatomegaly, H... |
OMIM:266510 |
| Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Hyperphosphatemia, Hyperuricemia, Anxiety, Hyperkalemia, Hyperte... |
ORPHA:94093 |
| Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Ventricular tachycardia, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:605676 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hypoglycemia, Hepato... |
OMIM:232400 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
| Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... |
ORPHA:75565 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Hypop... |
ORPHA:3426 |
| Scorpion Envenomation |
|
Myocarditis, Mydriasis, Glycosuria, Cardiogenic shock, Hypokalemia, T-wave inversion, Prominent U... |
ORPHA:466677 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:234500 |
| Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Ventricular septal defect, Dilated cardiom... |
OMIM:614921 |
| Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Developmental cat... |
OMIM:171300 |
| Acquired Methemoglobinemia |
|
Syncope, Arrhythmia, Palpitations, Anxiety, Tachycardia |
ORPHA:464453 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Failure to thrive, Hypoglycemia, Cataract, Cardiomyopathy |
ORPHA:67048 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Small for gestational age, Pericardial effusion, Failure to thrive, Hypertrophic... |
OMIM:614702 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
| Serotonin Syndrome |
|
Hypotension, Mydriasis, Hypertension, Agitation, Anxiety, Mental deterioration, Irritability, Res... |
ORPHA:43116 |
| Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr... |
OMIM:231100 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:205950 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hypertrophic cardiomyopathy, Developmental cataract, Hepatomegaly |
OMIM:618810 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Failure to thrive, Hepatomegaly, Hypocholesterolemia, Splenomegaly, Conjugated hyper... |
OMIM:607765 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
| Hyperthyroidism, Nonautoimmune |
|
Small for gestational age, Hyperactivity, Increased circulating thyroglobulin level, Tachycardia |
OMIM:609152 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Abnormality of iron homeostasis, Weight loss, Elevated jugular venous pressure, Elevated transfer... |
ORPHA:465508 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... |
OMIM:613690 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Cognitive impairment, Hyperlipidemia |
ORPHA:364 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cognitive impairment, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Left vent... |
ORPHA:90065 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, My... |
OMIM:144250 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity, Hypoalbuminemia |
ORPHA:88643 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:615558 |
| Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
| Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Developmental cataract, Internal hemorrhage, Right ventricular hype... |
ORPHA:335 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Supraventricular tachycardia, Hyperkalemia, Elevated creatine kinase after exe... |
ORPHA:423 |
| Hemochromatosis, Type 1 |
|
Increased serum iron, Telangiectasia, Glucose intolerance, Congestive heart failure, Diabetes mel... |
OMIM:235200 |
| Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... |
ORPHA:34217 |
| Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Astigmatism, He... |
OMIM:617713 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Impaired gluconeogenesis, Decreased plasma carnitine, Congestive heart failure, E... |
OMIM:212140 |
| Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Hyperbilirubinemia, Heart block, Capilla... |
ORPHA:542323 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Transient hyperlipi... |
OMIM:255120 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Emotional lability, Increased blood urea nitrogen, Orthostatic hypotension, Elevate... |
OMIM:223900 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Hyperkalemia |
OMIM:141000 |
| Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... |
OMIM:614022 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Aggressive behavior, Facial telangiectasia, Developmental cataract, Impulsivity, A... |
OMIM:620141 |
| Stiff-Person Syndrome |
|
Hypertension, Diabetes mellitus, Anxiety, Agoraphobia, Tachycardia |
OMIM:184850 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Type II diabetes mellitus, Hypertension, Myocardial infarction, Increas... |
OMIM:615812 |
| Paragangliomas 3 |
|
Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... |
OMIM:605373 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Tachycardia, Hyponatremia |
ORPHA:79273 |
| Relapsing Fever |
|
Increased total bilirubin, Hypotension, Epistaxis, Elevated circulating C-reactive protein concen... |
ORPHA:91547 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hyperinsulinemia, Cognitive impairment, Insulin resistance, Hypertension, Hepatome... |
ORPHA:363400 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine k... |
OMIM:618838 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Failure to thrive in infancy, Abnormal circulating leucine concentr... |
ORPHA:6 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
| Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
| Ethylene Glycol Poisoning |
|
Hypotension, Hyperkalemia, Congestive heart failure, Hypertension, Shock, Prolonged QT interval, ... |
ORPHA:31826 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... |
ORPHA:49827 |
| Cln3 Disease |
|
Aggressive behavior, Memory impairment, Anxiety, T-wave inversion, Left ventricular hypertrophy, ... |
ORPHA:228346 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia, Hyperlipidemia, ... |
ORPHA:2089 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... |
OMIM:115197 |
| Gitelman Syndrome |
|
Hypotension, Hypokalemia, Increased circulating renin level, Failure to thrive, Prolonged QT inte... |
OMIM:263800 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Transient hyperlipidemia, Hypertrophic cardiomyopathy, Hypoglycemia, Hepato... |
ORPHA:156 |
| Hepatic Lipase Deficiency |
|
Corneal arcus, Angina pectoris, Increased HDL cholesterol concentration, Hypercholesterolemia, Hy... |
OMIM:614025 |
| Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Hyperpepsinogenemia I, Atrial standstill, Atrial cardiomyop... |
OMIM:615745 |
| Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... |
ORPHA:1686 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... |
OMIM:614473 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Tachycardia |
ORPHA:90036 |
| Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Hyperaldosteronism, Ven... |
ORPHA:37553 |
| Abetalipoproteinemia |
|
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Keratoconjunctivitis sicca, Congesti... |
ORPHA:14 |
| Aceruloplasminemia |
|
Aceruloplasminemia, Decreased serum iron, Dementia, Diabetes mellitus, Increased circulating ferr... |
OMIM:604290 |
| Citrullinemia Type Ii |
|
Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Aggressive behavior, Memory impairment... |
ORPHA:247585 |
| Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Mydriasis, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia... |
ORPHA:90068 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal erosion, Hypertension, Heterochromia iridis, Corneal opacity, ... |
ORPHA:1764 |
| Hydroxykynureninuria |
|
Abnormal circulating tryptophan concentration, Tachycardia, Hypotension |
ORPHA:79155 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Aggressive behavior, Left ventricular hypertrophy, Dilated cardiomyopathy, Cataract, Irritability... |
OMIM:618321 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Decreased body weight, Type I diabetes mellitus, Elevate... |
ORPHA:96180 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... |
ORPHA:3092 |
| Paragangliomas 1 |
|
Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... |
OMIM:168000 |
| Mercury Poisoning |
|
Hypotension, Tachycardia, Hypokalemia, Hypertension |
ORPHA:330021 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Abnormal aggressive, ... |
ORPHA:3077 |
| Acute Intermittent Porphyria |
|
Memory impairment, Anxiety, Pseudobulbar paralysis, Hypertension, Hyponatremia, Mental deteriorat... |
ORPHA:79276 |
| Eisenmenger Syndrome |
|
Atrioventricular canal defect, Aortopulmonary window, Ventricular arrhythmia, Supraventricular ar... |
ORPHA:97214 |
| Chylomicron Retention Disease |
|
Hypocholesterolemia, Failure to thrive, Hypertriglyceridemia, Steatorrhea |
ORPHA:71 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... |
OMIM:618782 |
| Attrv30M Amyloidosis |
|
Weight loss, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Tularemia |
|
Conjunctivitis, Tachycardia, Conjunctival hyperemia |
ORPHA:3392 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Heart murmur, Neonatal hypoglycemia, Attention deficit hyperactivity disorder, Anx... |
OMIM:617600 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular fibrillation, Fa... |
OMIM:300952 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Dementia, Diabetes mellitus, Cataract, Arrhythmia, Dysphagia, Bradycardia, Cardiomyopathy |
OMIM:609286 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Hypertension, Anxiety, Hyponatremia, Tachycardia |
ORPHA:79473 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Decreased plasma carnitine, Non... |
OMIM:201475 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
| Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
| Refsum Disease, Classic |
|
Elevated circulating phytanic acid concentration, Congestive heart failure, Cataract, Arrhythmia,... |
OMIM:266500 |
| Sepsis In Premature Infants |
|
Hypotension, Decreased body weight, Small for gestational age, Tachycardia, Elevated circulating ... |
ORPHA:90051 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper... |
OMIM:619827 |
| Bacterial Toxic-Shock Syndrome |
|
Hypotension, Elevated circulating creatine kinase concentration, Shock, Capillary leak, Elevated ... |
ORPHA:36234 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
| Hemochromatosis, Type 3 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased serum ir... |
OMIM:604250 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Cong... |
OMIM:261740 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation, Atrial septal defect |
OMIM:613087 |
| Tangier Disease |
|
Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Corneal opacity, Hypo... |
ORPHA:31150 |
| Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... |
ORPHA:980 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Impaired glucose tolerance, Ventricular bigeminy, Elevated circulating creatine kinase concentrat... |
OMIM:610131 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypertrophic cardiomyopathy, Hepatomegaly, Irritability, Splenom... |
ORPHA:848 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Splenomegaly |
ORPHA:664 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Aggressive behavior, Hypovolemia, Hypokalemia, Subconjunctival hemorrhage, Internal ... |
ORPHA:99826 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Decreased body weight, Abnormal cardiac septum morphology, Bundle branch block, Ca... |
ORPHA:589821 |
| Graft Versus Host Disease |
|
Hyperbilirubinemia, Hepatosplenomegaly, Failure to thrive, Irritability, Tachycardia |
ORPHA:39812 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Transient hyperphenylalaninemia, Hyperactivity, Aggressive behavior |
OMIM:612716 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Pericardial effusion, Steatorrhea, Pericarditis, Failure to thrive, Hepatomegaly,... |
OMIM:212065 |
| Alg12-Cdg |
|
Patent foramen ovale, Failure to thrive, Biventricular hypertrophy, Muscular ventricular septal d... |
ORPHA:79324 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Asymmetric septal hypertrophy, Progressive neurologic deterio... |
OMIM:252920 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Elevated circulating creatine kinase concentra... |
ORPHA:99827 |
| Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... |
OMIM:224700 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Hyperphosphatemia, Decreased body weight, Hyperkalemia, Intracranial hemorrhage, Agi... |
ORPHA:340 |
| Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Conjunctivitis, Patent foramen ovale, Pulmonary arterial hypertension, Tricuspid regurgitation, E... |
ORPHA:505248 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Weight loss, Congestive heart failure, Polyphagia, Irritability |
OMIM:275000 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hyperactivity, Hypomagnesemia, Self-biting |
OMIM:618314 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Congestive heart failure, Splenomegaly |
ORPHA:90033 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Sinus tachycardia, Congestive heart failure, Hypertension, Emotional lability, Fai... |
ORPHA:525731 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Obesity, Dilated cardiomyopathy, Elevated circ... |
ORPHA:98855 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety, Obesity |
OMIM:301013 |
| Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia, Tachycardia, Hepatosplenomegaly |
ORPHA:71275 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:616278 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Self-mutilation, Blue irides |
OMIM:615516 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circula... |
ORPHA:766 |
| Chromosome 2Q37 Deletion Syndrome |
|
Subvalvular aortic stenosis, Hyperactivity, Aggressive behavior, Self-injurious behavior, Arrhyth... |
OMIM:600430 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Keratoconus, ... |
ORPHA:542306 |
| Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Obesity, Dilated cardiomyopathy, Elevated circ... |
ORPHA:261 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cognitive impairment, Reduced left ventricular ejection fraction, Anxiety, Ventricular arrhythmia... |
ORPHA:254892 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Obesity, Dilated cardiomyopathy, Elevated circ... |
ORPHA:98853 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Ventricular tachycardia, Syncope, Dilated cardiomyopathy |
OMIM:615821 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Insulin resistance, Failure to thrive, Hypoglycemia, Ne... |
ORPHA:73272 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
| Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Atrial septal defect, Microcornea, Failure to thrive, Astigmatism, Hyp... |
OMIM:244450 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Obesity, Elevated circulating creatine kinase ... |
ORPHA:98863 |
| African Iron Overload |
|
Increased circulating cortisol level, Elevated transferrin saturation, Congestive heart failure, ... |
ORPHA:139507 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... |
ORPHA:90363 |
| Arrhythmogenic right ventricular dysplasia, familial, 2 |
|
Effort-induced polymorphic ventricular tachycardia, Dilatation of the ventricular cavity, Right v... |
OMIM:600996 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia |
OMIM:614736 |
| Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... |
ORPHA:439 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Corneal scarring, Emotional lability, Keratitis, Opacification of the corneal stro... |
OMIM:256800 |
| Aceruloplasminemia |
|
Cognitive impairment, Aceruloplasminemia, Decreased circulating ceruloplasmin concentration, Decr... |
ORPHA:48818 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Ventricular septal defect, Corneal scarring, Hypertension, Bradycardia, Tachy... |
OMIM:614653 |
| Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Aggressive behavior, Ventricular septal defect, Hypertension, Atrial septal defect... |
OMIM:270400 |
| Necrotizing Enterocolitis |
|
Hypotension, Abnormal glucose homeostasis, Small for gestational age, Shock, Abnormal heart morph... |
ORPHA:391673 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Hepatomegaly, Elev... |
OMIM:615234 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Hepatomegaly, Fasting hypoglycemia, Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
| Porphyria, Acute Intermittent |
|
Tachycardia, Hypertension, Anxiety |
OMIM:176000 |
| Beta-Ketothiolase Deficiency |
|
Oral aversion, Hypotension, Hyperuricemia, Weight loss, Apathy, Hypertension, Agitation, Hypoglyc... |
ORPHA:134 |
| Glycogen Storage Disease Ii |
|
Subarachnoid hemorrhage, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome,... |
OMIM:232300 |
| Dubowitz Syndrome |
|
Hyperactivity, Megalocornea, Hypoplasia of the iris, Iris coloboma, Hypocholesterolemia |
OMIM:223370 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine... |
OMIM:618839 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypophosphatemia, Large for gestational age, Diabetes mellitus, Hypoglycemia, Hepatom... |
OMIM:616026 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Decreased circulating cortisol level, Elevated circula... |
OMIM:618835 |
| Tatton-Brown-Rahman Syndrome |
|
Aggressive behavior, Atrial septal defect, Supraventricular tachycardia with an accessory connect... |
ORPHA:404443 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Mitral valve prolapse, Hypertension,... |
ORPHA:449291 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Cardiomyopathy, Elevated circulating acylcarnitine concentration, Decre... |
ORPHA:228308 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Weight loss, Syncope, Tachycardia, Hepatomegaly, Splenomegaly |
ORPHA:98849 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... |
OMIM:108950 |
| Paragangliomas 4 |
|
Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Palpitations, Tachyca... |
OMIM:115310 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Ventricular arrhythmia, Supraventricular arrhythmia, Insulin resistance, Congestive heart failure... |
ORPHA:280365 |
| Ogden Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Torsade de pointes, Supraventricular tachy... |
OMIM:300855 |
| Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Supraventricular tachycardia, Aggressive behavior, Cognitive impairment, Anxiet... |
ORPHA:273 |
| Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Premature ventricular contraction, Elevated circulating creatine kinase concentration |
OMIM:617072 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... |
OMIM:618775 |
| Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Dilated cardiomyopathy, Fa... |
OMIM:610768 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Impaired myocardial contractility, Weight loss, Transient hypophosphatemia,... |
ORPHA:79102 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Dilated cardiomyopathy, Hepatosplenomegaly, Diabetes mellitus, A... |
ORPHA:231226 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Paroxysmal supraventricular tachycardia, Arrhythmia, Tr... |
OMIM:617877 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Tachycardia, Weight loss |
ORPHA:35858 |
| Gitelman Syndrome |
|
Pericardial effusion, Palpitations, Glucose intolerance, Polydipsia, Type II diabetes mellitus, I... |
ORPHA:358 |
| Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Abnormality of iron homeostasis, Hepatosplenomegaly, Diabetes me... |
ORPHA:231222 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased body weight, Corneal erosion, Anxiety, Decreased plasma carnitine, Decreased serum iron... |
ORPHA:89842 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Bacterial endocarditis, Heart block |
ORPHA:1964 |
| Truncus Arteriosus |
|
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... |
ORPHA:3384 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Dilated cardiomyopathy, Hepatosplenomegaly, Diabetes mellitus, H... |
ORPHA:231214 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia, Tachycardia |
ORPHA:521219 |
| Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Decreased circulating hepcidin concentration, Corne... |
ORPHA:101330 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Weight loss |
ORPHA:71273 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Small for gestational age, Pericardial... |
ORPHA:555874 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... |
OMIM:618280 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Tricuspid regurgitation, ... |
ORPHA:99125 |
| Legius Syndrome |
|
Hyperactivity, Paroxysmal atrial tachycardia, Cognitive impairment, Mitral valve prolapse, Catara... |
ORPHA:137605 |
| Degcags Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Small for gesta... |
OMIM:619488 |
| Carney Triad |
|
Tachycardia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:139411 |
| Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Splenomegaly, Abnormality of iron homeostasis, Ventricular septal defect, Cog... |
OMIM:222470 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased transferrin saturation, Hepatosplenomegaly, Increased circulating ferritin concentratio... |
ORPHA:300298 |
| Plague |
|
Endocarditis, Hypotension, Mydriasis, Anxiety, Tachycardia, Hepatomegaly, Arrhythmia, Hematemesis... |
ORPHA:707 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Iris coloboma, Pete... |
OMIM:309801 |
| Argininemia |
|
Hyperactivity, Hyperammonemia, Hyperargininemia, Hepatomegaly, Irritability |
OMIM:207800 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Developmental glaucoma, Bicuspid aortic valve, Prolonged QT interval, Obesity, Tachycardia |
ORPHA:1772 |
| Mend Syndrome |
|
Hyperactivity, Aggressive behavior, Elevated 8(9)-cholestenol, Failure to thrive, Cataract, Eleva... |
ORPHA:401973 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormal blood inorganic ca... |
ORPHA:309854 |
| Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Congestive heart failure, Developmental cataract, Hypertension, Iri... |
OMIM:181270 |
| Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Aggressive behavior, Cognitive impairment, Abnormal mitral valve morphology, Abnor... |
ORPHA:580 |
| Sarcoidosis |
|
Abnormal conjunctiva morphology, Abnormal cardiac ventricular function, Weight loss, Keratoconjun... |
ORPHA:797 |
| Syndromic Diarrhea |
|
Abnormality of iron homeostasis, Ventricular septal defect, Small for gestational age, Bicuspid a... |
ORPHA:84064 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Weight loss, Pericardial effusion, Ventricular arrhythmia, Hypokalemia, Supraventric... |
ORPHA:91347 |
| Choreoacanthocytosis |
|
Hyperactivity, Aggressive behavior, Head-banging, Self-injurious behavior, Weight loss, Anxiety, ... |
ORPHA:2388 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Pulmonary embolism, Unconjugated hyperbilirubinemia, Glycosuria, Decre... |
ORPHA:447 |
| Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Decreased body weight, Ventricular septal defect, Dysplastic aor... |
OMIM:602535 |
