Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Ventricular fibrillation, Syncope |
OMIM:603829 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... |
OMIM:616201 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Atrial Fibrillation, Familial, 15 |
|
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death |
OMIM:615770 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave |
OMIM:614049 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content, Hypoketotic hypoglycemia, Truncal obesity, Large for gestatio... |
ORPHA:293964 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... |
OMIM:614022 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... |
OMIM:617222 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
Atrial Fibrillation, Familial, 3 |
|
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... |
OMIM:607554 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... |
OMIM:612124 |
Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... |
OMIM:108770 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... |
OMIM:601494 |
Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... |
OMIM:115000 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction |
OMIM:612956 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Cardiom... |
OMIM:615745 |
Left Ventricular Noncompaction 8 |
|
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... |
OMIM:615373 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure |
OMIM:192600 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block |
OMIM:615616 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... |
OMIM:613251 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... |
OMIM:613838 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... |
OMIM:614954 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Atrial Fibrillation, Familial, 12 |
|
Paroxysmal atrial fibrillation |
OMIM:614050 |
Brugada Syndrome 4 |
|
Atrial fibrillation, Shortened QT interval, Syncope |
OMIM:611876 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Bardet-Biedl Syndrome 11 |
|
Obesity, Abnormality of the kidney |
OMIM:615988 |
Atrial Fibrillation, Familial, 1 |
|
Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
Atrial Fibrillation, Familial, 2 |
|
Atrial fibrillation |
OMIM:608988 |
Bardet-Biedl Syndrome 10 |
|
Obesity, Renal cyst, Abnormality of the kidney, Renal insufficiency |
OMIM:615987 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Nephronophthisis 16 |
|
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... |
OMIM:615382 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardiomyopathy, Apical hypertro... |
OMIM:613690 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia |
ORPHA:542306 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... |
OMIM:601493 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Fasting hypoglycem... |
ORPHA:171706 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Bardet-Biedl Syndrome 12 |
|
Obesity, Abnormality of the kidney |
OMIM:615989 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618815 |
Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... |
OMIM:604801 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Increased body weight, Ascites,... |
ORPHA:890 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Paraspinal muscle hypertrophy, Congenital foot contractures, Knee flexion contra... |
OMIM:602484 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... |
OMIM:619566 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Hepatomegaly |
ORPHA:2432 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Congestive heart failure |
OMIM:619048 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... |
OMIM:608751 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age |
OMIM:248110 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... |
ORPHA:324575 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Renal insufficiency |
OMIM:615995 |
Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Obesity |
OMIM:615993 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... |
OMIM:212138 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Enlarged ki... |
ORPHA:90301 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... |
OMIM:613873 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity |
OMIM:614662 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... |
ORPHA:330001 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Skeletal muscle hyper... |
OMIM:613877 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... |
ORPHA:217607 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... |
ORPHA:93108 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation |
ORPHA:90647 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Premature ventricular contraction, Syncope |
OMIM:192445 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, EMG: myopathic abnormal... |
OMIM:608840 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure |
OMIM:261740 |
Rippling Muscle Disease 2 |
|
Abnormal skeletal muscle morphology, Skeletal muscle hypertrophy |
OMIM:606072 |
Timothy Syndrome |
|
Prolonged QT interval, Bradycardia |
OMIM:601005 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity, Joint contracture of the hand, Camptodactyly |
OMIM:264010 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... |
ORPHA:370968 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cystic renal dysplasia, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia |
OMIM:615415 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Hypoplasia of penis, Micropenis |
ORPHA:85274 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Blue Diaper Syndrome |
|
Increased body weight, Elevated hepatic transaminase, Increased proinsulin:insulin ratio, Recurre... |
ORPHA:94086 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia, Tall stature |
OMIM:618406 |
Ebstein Anomaly |
|
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... |
OMIM:224700 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Macroglossia, Skeletal muscle hypertrophy, Pro... |
ORPHA:528 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis |
OMIM:615703 |
Hemihyperplasia, Isolated |
|
Nephroblastoma, Skeletal muscle hypertrophy |
OMIM:235000 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... |
OMIM:232200 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia |
OMIM:614407 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Long-chain dicarboxylic aciduria, Hepatic calcif... |
OMIM:608836 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness, Diabetes mellitus, Insulin res... |
OMIM:615980 |
Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy |
OMIM:600332 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Halothane Hepatitis |
|
Obesity, Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Myopathy, Jaundice, Macroglossia, Skeletal muscle hypertrophy |
ORPHA:2349 |
Hyperostosis Frontalis Interna |
|
Obesity, Diabetes mellitus |
OMIM:144800 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Pancreatitis, Skeletal muscle hypertrophy, Splenomegaly, Cirrhosis, Maternal diabet... |
ORPHA:79083 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... |
ORPHA:276556 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy |
OMIM:613158 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... |
OMIM:613157 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increased hepatic glycogen content... |
ORPHA:263455 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia |
OMIM:600996 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Cidec-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Insulin-resista... |
ORPHA:435651 |
Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Left ventricular outflow tract obstruction, Hypertro... |
ORPHA:439232 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Sinus bradycardia, Second degree atrioventricular block, Syncope |
OMIM:616812 |
Nephronophthisis 15 |
|
Obesity, Nephronophthisis, Hepatic failure |
OMIM:614845 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Cholestasis, Childhood-onset truncal obesity, Hypoglycemic s... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Cholestasis, Childhood-onset truncal obesity, Hypoglycemic s... |
ORPHA:71526 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Pancreatitis, Skeletal muscle hypertrophy, Splenomegaly, Glomerulopathy, Abnormalit... |
ORPHA:2348 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
Tyrosinemia, Type I |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure,... |
OMIM:276700 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Nephrolithiasis, Hepatomegaly, Renal cortical cysts, Macroglossia, Hepatoblastom... |
OMIM:130650 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Aminoaciduria, Glycosuria, Hypoglycemia, Large for gestational age, Elevated hepati... |
OMIM:616026 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
Bardet-Biedl Syndrome 19 |
|
Obesity, Renal insufficiency |
OMIM:615996 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Insulin-resis... |
ORPHA:435660 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... |
ORPHA:216694 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Flexion contracture, Skeletal muscle hypertrophy |
OMIM:611588 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepati... |
OMIM:615630 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Proximal muscle weakness in lower... |
ORPHA:905 |
Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the ... |
ORPHA:2377 |
Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity |
OMIM:248100 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Paroxysmal supraventricular tachycardia, Bradycardia |
OMIM:601375 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... |
ORPHA:263297 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Macroglossia, Flexion contracture, Splenomegaly, Ren... |
OMIM:617303 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Pancreatitis, Splenomegaly, Skeletal muscle hypertrophy, Cirrhosis, In... |
ORPHA:90970 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Bardet-Biedl Syndrome 4 |
|
Obesity, Renal cyst, Abnormality of the kidney |
OMIM:615982 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increased bo... |
ORPHA:79240 |
Senior-Loken Syndrome 9 |
|
Nephronophthisis, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Obesity, Stage 5 c... |
OMIM:616629 |
Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Skeletal muscle hypertrophy |
ORPHA:101082 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Visceromegaly |
OMIM:601165 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Proteinuria, Ob... |
ORPHA:251004 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity, Muscular dystrophy, Distal lower limb muscle weakness, Progressive distal muscular atrophy |
ORPHA:459033 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Bardet-Biedl Syndrome 8 |
|
Obesity, Hypospadias, Renal dysplasia |
OMIM:615985 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Bradycardia, Persistent fetal circulation |
OMIM:618775 |
Obesity-Hypoventilation Syndrome |
|
Obesity, Cyanosis |
OMIM:257500 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Hepatomegaly, Enlarged kidney, Hypoxemia, Weight loss |
ORPHA:79128 |
Shox-Related Short Stature |
|
Obesity, Skeletal muscle hypertrophy |
ORPHA:314795 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Skeletal muscle hypertrop... |
OMIM:613327 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Hypoglycemic seizures, Cholestasis |
OMIM:609734 |
Bardet-Biedl Syndrome 6 |
|
Obesity, Renal cyst, Hypospadias, Diabetes mellitus |
OMIM:605231 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Tall stature, Enlarged kidney, L... |
ORPHA:116 |
Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... |
OMIM:615344 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Myoglobinuria, ... |
ORPHA:264580 |
Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Decreased body weight, Hepatomeg... |
ORPHA:508 |
Polycystic Ovary Syndrome 1 |
|
Obesity, Enlarged polycystic ovaries |
OMIM:184700 |
Central Precocious Puberty |
|
Increased body weight, Obesity, Overgrowth |
ORPHA:759 |
Necrotizing Enterocolitis |
|
Shock, Hypotension, Bradycardia |
ORPHA:391673 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body weight, Increased body mass index, Macroglossia |
OMIM:614450 |
Glossopharyngeal Neuralgia |
|
Jaw claudication, Bradycardia, Syncope |
ORPHA:221098 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
Bardet-Biedl Syndrome 21 |
|
Obesity, Overweight, Horseshoe kidney, Elevated hepatic transaminase |
OMIM:617406 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block |
OMIM:609438 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... |
ORPHA:731 |
Peripartum Cardiomyopathy |
|
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... |
ORPHA:563 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased body weight, Small for gestational age, Type II diabetes mellitus, Diabetes mellitus |
OMIM:274300 |
Macrocephaly/Autism Syndrome |
|
Obesity, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol... |
OMIM:200995 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Glycosuria, Proteinuria, Increased body weight, Weight loss, Enlarged polycysti... |
ORPHA:2298 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Nephroblast... |
OMIM:608022 |
Bardet-Biedl Syndrome 2 |
|
Obesity, Diabetes mellitus |
OMIM:615981 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Failure to thrive, Hepatomegaly, Pancreatitis, Increased hepatic glycogen conten... |
ORPHA:79259 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight, Increased urinary cortisol level, Hyperglycemia |
OMIM:615954 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Obesity, Hyperinsulinemia |
OMIM:617885 |
Myotonia Congenita, Autosomal Recessive |
|
Muscle hypertrophy of the lower extremities, Skeletal muscle hypertrophy |
OMIM:255700 |
Brody Disease |
|
Flexion contracture, Skeletal muscle hypertrophy |
OMIM:601003 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity, Micropenis, Diabetes mellitus |
OMIM:610628 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98855 |
Bardet-Biedl Syndrome 3 |
|
Obesity, Renal hypoplasia |
OMIM:600151 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia |
ORPHA:565624 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Ureteral obstruction, Hematuria, Renal inte... |
ORPHA:449395 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Incre... |
ORPHA:97279 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholest... |
OMIM:617394 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Multiple pancreatic beta-cel... |
ORPHA:79644 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Firm muscles, Skeletal muscle hypertrophy |
OMIM:255710 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Obesity, Sk... |
OMIM:615418 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy |
ORPHA:99014 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Obesity, Hypoplasia of penis, Type II diabetes mellitus, Eunuchoid habitus |
ORPHA:2234 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171420 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hypertension, Tachycardia, Retinal hemorrhage, Bradycardia |
OMIM:614653 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Macroglossia, Proportionate tall stature, Nephroblastoma, Multicystic kidney dysplasia, Enlarged ... |
ORPHA:500095 |
Paramyotonia Congenita Of Von Eulenburg |
|
Skeletal muscle hypertrophy |
OMIM:168300 |
Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
Richieri Costa-Da Silva Syndrome |
|
Asymmetric limb muscle stiffness, Distal lower limb muscle weakness, Decreased muscle mass, Skele... |
ORPHA:3101 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Hepatic fibrosis, Obesity,... |
ORPHA:110 |
Acquired Methemoglobinemia |
|
Palpitations, Tachycardia, Arrhythmia, Syncope |
ORPHA:464453 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Pancreatitis, Skeletal muscle hypertrophy, Splenomegaly, Muscle hypertrophy of the ... |
ORPHA:280365 |
Lipodystrophy, Familial Partial, Type 2 |
|
Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Skeletal muscle hypertrophy, Acute pan... |
OMIM:151660 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98853 |
H Syndrome |
|
Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Camptodactyly, Diabet... |
ORPHA:168569 |
Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Brad... |
ORPHA:94093 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Bradycardia |
ORPHA:90673 |
Bardet-Biedl Syndrome 9 |
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Obesity, Truncal obesity, Renal insufficiency, Hyperglycemia |
OMIM:615986 |
Paragangliomas 3 |
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Hypertension associated with pheochromocytoma, Tachycardia, Palpitations |
OMIM:605373 |
Complete Atrioventricular Septal Defect |
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Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... |
ORPHA:1329 |
Mucolipidosis Ii Alpha/Beta |
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Diastasis recti, Failure to thrive, Hepatomegaly, Macroglossia, Splenomegaly, Camptodactyly, Enla... |
OMIM:252500 |
Myotonia Permanens |
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Generalized muscle hypertrophy, Skeletal muscle hypertrophy |
ORPHA:99735 |
Uruguay Faciocardiomusculoskeletal Syndrome |
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Camptodactyly of toe, Joint contracture of the hand, Skeletal muscle hypertrophy |
OMIM:300280 |
Kaposiform Lymphangiomatosis |
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Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cysts, Enlarged kidn... |
ORPHA:464329 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Tachycardia |
OMIM:613239 |
Primary Pigmented Nodular Adrenocortical Disease |
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Abdominal obesity, Glucose intolerance, Nephrolithiasis, Type II diabetes mellitus, Elevated hepa... |
ORPHA:189439 |
Lujo Hemorrhagic Fever |
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Hypotension, Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia |
ORPHA:319213 |
Dysbetalipoproteinemia |
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Hepatomegaly, Acute pancreatitis, Renal steatosis, Diabetes mellitus, Obesity, Hepatic steatosis,... |
ORPHA:412 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Nephrotic syndrome, Macroglossia, Flexion contracture, Hepatosplenomegaly, Heparan sulfate excret... |
ORPHA:505248 |
Distal 16P11.2 Microdeletion Syndrome |
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Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Obesity, Vesicour... |
ORPHA:261222 |
Proximal Spinal Muscular Atrophy |
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Bradycardia |
ORPHA:70 |
Myotonia, Potassium-Aggravated |
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Skeletal muscle hypertrophy |
OMIM:608390 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Melena, Abnormal left ventricular function, Hemoperitoneum, Subdural hemorrh... |
ORPHA:99827 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
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Hypospadias, Nephroblastoma, Nephropathy, Renal insufficiency, Obesity |
OMIM:194072 |
Dystonia 7, Torsion |
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Torticollis, Skeletal muscle hypertrophy |
OMIM:602124 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Reduced muscle fiber alpha dystroglycan, Hypoglycosylation of alpha-dystroglycan, Macroglossia, S... |
ORPHA:370959 |
Malignant Hyperthermia, Susceptibility To, 1 |
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Tachycardia, Hypotension |
OMIM:145600 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
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Abdominal obesity, Glucose intolerance, Nephrolithiasis, Renal cell carcinoma, Increased body wei... |
ORPHA:189427 |
Acetazolamide-Responsive Myotonia |
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Skeletal muscle hypertrophy |
ORPHA:99736 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
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Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
Myotonia Congenita, Autosomal Dominant |
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Skeletal muscle hypertrophy |
OMIM:160800 |
Sheehan Syndrome |
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Orthostatic hypotension, Palpitations, Bradycardia |
ORPHA:91355 |
Alg9-Cdg |
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Torticollis, Hypoplasia of the musculature, Hepatomegaly, Ureteral hypoplasia, Periportal fibrosi... |
ORPHA:79328 |
Endocrine-Cerebroosteodysplasia |
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Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus |
OMIM:612651 |
Schwartz-Jampel Syndrome, Type 1 |
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Hip contracture, Joint contracture of the hand, Skeletal muscle hypertrophy, Quadriceps muscle we... |
OMIM:255800 |
Tropical Endomyocardial Fibrosis |
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Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
Leptin Receptor Deficiency |
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Obesity, Diabetes mellitus |
OMIM:614963 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Obesity |
OMIM:264120 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Nephroblastoma, Overgrowth, Enlarged kidney |
ORPHA:276280 |
Cardiomyopathy, Dilated, 1S |
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Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Ventricular arrhythmia, Dila... |
OMIM:613426 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... |
ORPHA:209902 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
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EMG: myopathic abnormalities, Obesity |
OMIM:618822 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
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Tachycardia, Dilated cardiomyopathy, Syncope |
OMIM:615821 |
Pituitary Adenoma 4, Acth-Secreting |
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Abdominal obesity, Glucose intolerance, Nephrolithiasis, Impaired glucose tolerance, Obesity, Ske... |
OMIM:219090 |
Paragangliomas 1 |
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Hypertension associated with pheochromocytoma, Palpitations, Tachycardia |
OMIM:168000 |
Meacham Syndrome |
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Aplasia of the right hemidiaphragm, Diaphragmatic eventration, Accessory spleen, Aplasia of the l... |
OMIM:608978 |
Hypothyroidism, Central, With Testicular Enlargement |
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Overweight |
OMIM:300888 |
Heterotaxy, Visceral, 1, X-Linked |
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Failure to thrive, Hepatomegaly, Renal agenesis, Biliary atresia, Cyanosis, Enlarged kidney, Abdo... |
OMIM:306955 |
Pseudohypoparathyroidism, Type Ib |
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Obesity, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Bradycardia |
ORPHA:90674 |
Joubert Syndrome 8 |
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Obesity, Hepatomegaly, Prolonged neonatal jaundice |
OMIM:612291 |
Perlman Syndrome |
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Congenital diaphragmatic hernia, Nephrogenic rest, Nephroblastoma, Large for gestational age, Hyp... |
OMIM:267000 |
Proprotein Convertase 1/3 Deficiency |
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Reactive hypoglycemia, Obesity |
OMIM:600955 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
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Increased body weight, Horseshoe kidney, Micropenis |
OMIM:300860 |
Hyperthyroidism, Nonautoimmune |
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Tachycardia |
OMIM:609152 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney |
OMIM:613091 |
Stiff Person Spectrum Disorder |
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Paraspinal muscle hypertrophy, Diabetes mellitus |
ORPHA:3198 |
Hyperkalemic Periodic Paralysis |
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Myopathy, Skeletal muscle atrophy, Flexion contracture, Skeletal muscle hypertrophy |
ORPHA:682 |
Smith-Magenis Syndrome |
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Increased body weight, Abnormality of the urinary system, Abnormal renal morphology |
OMIM:182290 |
Bdv Syndrome |
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Obesity, Hyperinsulinemia, Type II diabetes mellitus, Micropenis |
OMIM:619326 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Jaundice, Small for gestational age, Hypoketotic hypoglycemia, Exercise-induced rha... |
ORPHA:26793 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Large for gestational age, Diastasis recti, Overgrowth, Small for gestational age |
ORPHA:254534 |
Hydroxykynureninuria |
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Tachycardia, Hypotension |
ORPHA:79155 |
Marburg Hemorrhagic Fever |
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Hypovolemia, Tachycardia, Hypotension, Shock, Internal hemorrhage, Subconjunctival hemorrhage, Pe... |
ORPHA:99826 |
Thauvin-Robinet-Faivre Syndrome |
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Macroglossia, Tall stature, Nephroblastoma, Overgrowth, Renal dysplasia, Large for gestational ag... |
OMIM:617107 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
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Obesity |
OMIM:619755 |
Satoyoshi Syndrome |
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Skeletal muscle hypertrophy |
OMIM:600705 |
Yellow Fever |
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Supraventricular arrhythmia, Hematemesis, Shock, Reduced left ventricular ejection fraction, Inte... |
ORPHA:99829 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Diastasis recti, Hepatomegaly, Congenital diaphragmatic hernia, Macroglossia, Right ventricular h... |
OMIM:312870 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
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Increased body weight, Diabetes mellitus |
OMIM:615830 |
Sotos Syndrome |
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Glucose intolerance, Tall stature, Abnormality of the kidney, Overgrowth, Prolonged neonatal jaun... |
OMIM:117550 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Bradycardia |
OMIM:218700 |
Histiocytoid Cardiomyopathy |
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Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Junctional ectopic tac... |
ORPHA:137675 |
Bohring-Opitz Syndrome |
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Bradycardia |
ORPHA:97297 |
Ogden Syndrome |
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Torticollis, Global glomerulosclerosis, Microvesicular hepatic steatosis, Maternal diabetes, Macr... |
OMIM:300855 |
Pheochromocytoma |
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Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171300 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
Aromatase Deficiency |
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Type II diabetes mellitus, Eunuchoid habitus, Tall stature, Insulin resistance, Obesity, Enlarged... |
ORPHA:91 |
Abdominal Obesity-Metabolic Syndrome 4 |
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Obesity, Type II diabetes mellitus |
OMIM:618620 |
Adrenocortical Carcinoma |
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Abnormality of urine homeostasis, Diabetes mellitus, Increased body weight, Weight loss, Increase... |
ORPHA:1501 |
Schwartz-Jampel Syndrome |
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Nephrolithiasis, Hip contracture, Decreased body weight, Skeletal muscle hypertrophy, Cachexia, A... |
ORPHA:800 |
Leri-Weill Dyschondrosteosis |
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Skeletal muscle hypertrophy |
OMIM:127300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:613150 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Bradycardia |
ORPHA:226307 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Cardiac-Urogenital Syndrome |
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Congenital diaphragmatic hernia, Micropenis, Accessory spleen, Hepatopulmonary fusion, Enlarged k... |
OMIM:618280 |
Joubert Syndrome 39 |
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Polycystic kidney dysplasia, Overweight, Joint contracture of the 5th finger |
OMIM:619562 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Magel2-Related Prader-Willi-Like Syndrome |
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Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Flexion contracture, Micropenis,... |
ORPHA:398069 |
Thyrotoxic Periodic Paralysis |
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Postprandial hyperglycemia, Abnormal muscle fiber morphology, Lower limb muscle weakness, Increas... |
ORPHA:79102 |
Paragangliomas 4 |
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Hypertension associated with pheochromocytoma, Palpitations, Tachycardia |
OMIM:115310 |
Myhre Syndrome |
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Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Small for gestational age, Camptodac... |
OMIM:139210 |
Hellp Syndrome |
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Hemoglobinuria, Elevated hepatic transaminase, Acute kidney injury, Proteinuria, Increased body w... |
ORPHA:244242 |
Myhre Syndrome |
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Abnormal penis morphology, Hypospadias, Epispadias, Skeletal muscle hypertrophy |
ORPHA:2588 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Sinus bradycardia |
OMIM:619482 |
Cushing Disease |
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Abdominal obesity, Truncal obesity, Impaired glucose tolerance, Diabetes mellitus, Increased body... |
ORPHA:96253 |
Wiedemann-Rautenstrauch Syndrome |
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Slender build, Failure to thrive, Type II diabetes mellitus, Skeletal muscle hypertrophy, Hypospa... |
ORPHA:3455 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy |
OMIM:619714 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Abdominal obesity, Pancreatic adenocarcinoma, Truncal obesity, Impaired glucose tolerance, Pancre... |
ORPHA:99889 |
Carney Complex |
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Abdominal obesity, Neoplasm of the pancreas, Tall stature, Hepatocellular carcinoma, Increased bo... |
ORPHA:1359 |
Mowat-Wilson Syndrome |
|
Abnormality of the kidney, Generalized muscle hypertrophy, Hypospadias |
OMIM:235730 |