Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... |
OMIM:613876 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... |
OMIM:619897 |
Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... |
OMIM:619964 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... |
OMIM:614302 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... |
OMIM:601068 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement |
OMIM:615377 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
EEG with polyspike wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... |
OMIM:615127 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Atrial Fibrillation, Familial, 12 |
|
Paroxysmal atrial fibrillation |
OMIM:614050 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Atrial Fibrillation, Familial, 1 |
|
Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 2 |
|
Atrial fibrillation |
OMIM:608988 |
Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... |
OMIM:620236 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph... |
OMIM:613608 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... |
OMIM:617912 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
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Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Sick Sinus Syndrome 1 |
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Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Developmental And Epileptic Encephalopathy 15 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... |
OMIM:615006 |
Atrial Septal Defect, Sinus Venosus Type |
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Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Long Qt Syndrome 16 |
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Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Cardiomyopathy, Familial Hypertrophic, 6 |
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Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Hereditary Progressive Mucinous Histiocytosis |
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Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Seizures, Benign Familial Neonatal, 2 |
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Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Atrioventricular Dissociation |
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Congenital atrioventricular dissociation |
OMIM:209600 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
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Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... |
OMIM:310300 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Developmental And Epileptic Encephalopathy 94 |
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Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Tonic seizure, Visually-induced ... |
OMIM:615369 |
Cardiomyopathy, Familial Hypertrophic, 2 |
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Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Ebstein Anomaly |
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Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Seizures, Benign Familial Infantile, 2 |
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Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
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Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Brugada Syndrome 9 |
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Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Loeffler Endocarditis |
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Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Developmental And Epileptic Encephalopathy 104 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... |
OMIM:619970 |
Sick Sinus Syndrome 4 |
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Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Naxos Disease |
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Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Cardiomyopathy, Familial Hypertrophic, 26 |
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Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Glycoprotein Storage Disease |
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Splenomegaly |
OMIM:232900 |
Epilepsy, Familial Temporal Lobe, 3 |
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Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Developmental And Epileptic Encephalopathy 9 |
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Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Atrial Tachyarrhythmia With Short Pr Interval |
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Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
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Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Sudden Cardiac Failure, Infantile |
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Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Centralopathic Epilepsy |
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Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... |
OMIM:117100 |
Cardiomyopathy, Dilated, 1I |
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Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Epilepsy, Myoclonic Juvenile |
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Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... |
OMIM:254770 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Seizures, Benign Familial Infantile, 5 |
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Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Myopathy, Myofibrillar, 1 |
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Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... |
OMIM:601419 |
Continuous Spikes And Waves During Sleep |
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Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizure, Focal-... |
ORPHA:725 |
Congenital Heart Defects, Multiple Types, 2 |
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Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... |
OMIM:614980 |
Cardiomyopathy, Dilated, 1S |
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Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
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Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Familial Atrial Fibrillation |
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Palpitations, Atrial fibrillation, Syncope, Myocardial infarction |
ORPHA:334 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
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Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
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Bilateral tonic-clonic seizure |
OMIM:608217 |
Familial Progressive Cardiac Conduction Defect |
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Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... |
OMIM:212138 |
Developmental And Epileptic Encephalopathy 12 |
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Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia |
OMIM:613722 |
Epilepsy, Familial Adult Myoclonic, 5 |
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Bilateral tonic-clonic seizure, Focal sensory seizure with visual features, Focal impaired awaren... |
OMIM:615400 |
Developmental And Epileptic Encephalopathy 26 |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
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EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Cortical Malformations, Occipital |
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EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Muscular Dystrophy, Congenital, Lmna-Related |
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Hip contracture, Paroxysmal atrial fibrillation, Elbow contracture, Scapuloperoneal amyotrophy, A... |
OMIM:613205 |
Cardiomyopathy, Dilated, 1Bb |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
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Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
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Hypertrophic cardiomyopathy |
ORPHA:79281 |
Sensorineural Deafness With Dilated Cardiomyopathy |
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Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
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Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Desminopathy |
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Supraventricular arrhythmia, Sudden cardiac death, Fatigable weakness of bulbar muscles, Congesti... |
ORPHA:98909 |
Febrile Seizures, Familial, 5 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Autosomal Dominant Epilepsy With Auditory Features |
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Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
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Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
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Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:245570 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Muscle Filaminopathy |
|
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... |
ORPHA:171445 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus |
OMIM:613721 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial musculature, Incr... |
OMIM:620265 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG abnormality, Seizure, Myoclonus, Atypical abse... |
OMIM:617391 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with focal sharp waves,... |
ORPHA:163721 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, EEG with burst suppression, Clonic seizure, Status epilepticus, G... |
OMIM:266100 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... |
OMIM:617389 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy |
OMIM:212130 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Simple febrile seizure, Infantile spa... |
ORPHA:98820 |
Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Myoclonus, EEG with generalized epileptiform discharges, Myocloni... |
OMIM:616187 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... |
OMIM:619048 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Seizure, Bradycardia, ... |
ORPHA:66529 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:254800 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:607681 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Hypsarrhythmia, Seizure, Sick sinus syndrome, Bradycardia, Prolonged P... |
ORPHA:542306 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, EEG with focal sharp slow w... |
ORPHA:2382 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Short stature, Bilateral tonic-clonic seizure |
OMIM:619639 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... |
OMIM:607208 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Typical absence seizure, Gener... |
OMIM:607682 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... |
OMIM:607745 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, EEG abnormality, Seizure, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618815 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
EEG abnormality, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617171 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, EEG a... |
OMIM:617831 |
Cardiomyopathy, Dilated, 3B |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:302045 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p... |
OMIM:608105 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure |
OMIM:617863 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Juvenile Absence Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... |
ORPHA:1941 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... |
OMIM:617904 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... |
ORPHA:3092 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, EEG with sp... |
ORPHA:139431 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
EEG abnormality, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:610003 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... |
OMIM:619000 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Hypsarrhythmia, Myoclon... |
OMIM:616409 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG with abno... |
ORPHA:599373 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Seizure precipitated by febrile infection, Takotsubo cardiomyopathy, Bilateral tonic-clonic seizu... |
ORPHA:363549 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle |
OMIM:255100 |
Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... |
OMIM:612691 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Symmetrical Thalamic Calcifications |
|
EEG abnormality, Arrhythmia, Seizure |
ORPHA:1314 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Arrhythmia |
OMIM:310095 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atypical abs... |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, EEG w... |
OMIM:261740 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Palpitations, Generali... |
OMIM:602668 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... |
ORPHA:101071 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... |
ORPHA:423 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, EEG with burst s... |
OMIM:619605 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia |
OMIM:616341 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhyth... |
OMIM:616139 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... |
OMIM:618587 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
OMIM:162350 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... |
OMIM:619040 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic seizure with ge... |
ORPHA:98818 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness |
ORPHA:320360 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... |
OMIM:181350 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block |
ORPHA:85447 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia |
OMIM:618453 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
EEG abnormality, Seizure, Bilateral tonic-clonic seizure |
OMIM:608636 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus |
OMIM:618924 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Lissencephaly 10 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:618873 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy |
OMIM:609016 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy |
OMIM:609500 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... |
OMIM:616645 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... |
OMIM:611726 |
Myopathy, Myofibrillar, 3 |
|
Cardiomyopathy |
OMIM:609200 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... |
OMIM:616540 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Aminoacylase 1 Deficiency |
|
Seizure, Bilateral tonic-clonic seizure, Bradycardia |
OMIM:609924 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, EEG... |
OMIM:613855 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... |
OMIM:601764 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... |
OMIM:605021 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... |
OMIM:614096 |
Familial Isolated Restrictive Cardiomyopathy |
|
Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi... |
ORPHA:75249 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... |
OMIM:204300 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... |
OMIM:614018 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure |
OMIM:617709 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... |
OMIM:619566 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
EEG abnormality, Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Focal impaired a... |
OMIM:615859 |
Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Neona... |
ORPHA:140927 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomy... |
OMIM:614702 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia |
OMIM:614654 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Seizure, Bradycardia, Myoclonus |
OMIM:619814 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... |
ORPHA:26793 |
Monosodium Glutamate Sensitivity |
|
Palpitations |
OMIM:231630 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619157 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, EEG with irregular generaliz... |
ORPHA:86909 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:309530 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Cardiomyopathy, Dilated, 1X |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611615 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... |
OMIM:617350 |
Dk1-Cdg |
|
Bilateral tonic-clonic seizure, Infantile spasms, Congestive heart failure, Focal-onset seizure, ... |
ORPHA:91131 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Intrauterine growth retardation, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617082 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... |
ORPHA:86812 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Multifocal e... |
OMIM:617711 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... |
OMIM:609446 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, EEG abnorm... |
OMIM:617106 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:79137 |
Unilateral Focal Polymicrogyria |
|
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... |
ORPHA:268947 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Multifocal seizures, Focal motor status epilepticus, EEG with burst suppression, Focal-onset seiz... |
OMIM:614498 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia |
ORPHA:35 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Arrhythmia |
ORPHA:99944 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros... |
OMIM:234700 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Failure to th... |
OMIM:618228 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Flexion contracture, Small for gestational age |
OMIM:616733 |
Progressive Myoclonic Epilepsy Type 3 |
|
Bilateral tonic-clonic seizure, Focal EEG discharges with secondary generalization, EEG with foca... |
ORPHA:263516 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... |
ORPHA:36387 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A... |
ORPHA:860 |
Epilepsy, Progressive Myoclonic, 8 |
|
Action myoclonus, Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Myoclonus |
OMIM:616230 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... |
ORPHA:1677 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Status epilepticus, Focal impaired ... |
ORPHA:330050 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Dystonia 23 |
|
Arrhythmia |
OMIM:614860 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Ventricular tachycardia, Seizure, Torsade de pointes, Hypertrophic cardiomyopathy... |
OMIM:616878 |
Congenital Myopathy 24 |
|
Cardiomyopathy, First degree atrioventricular block |
OMIM:617336 |
Partial Atrioventricular Septal Defect |
|
Atrial flutter, Angina pectoris, Transient ischemic attack, Bicuspid aortic valve, Coronary sinus... |
ORPHA:1330 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block |
ORPHA:480 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri... |
OMIM:252011 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized ... |
OMIM:617976 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Failure to thrive |
OMIM:616974 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Heart block, Cardiomyopathy, Abnormal left ventricular function, Fatigable weakness of distal lim... |
ORPHA:98912 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, Hypsarrhy... |
OMIM:619701 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Palpitations |
OMIM:188580 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... |
OMIM:619317 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Growth delay, Bilateral tonic-clonic seizure |
OMIM:614322 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Heart mu... |
OMIM:615418 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onse... |
OMIM:618856 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure |
OMIM:104290 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Mitral valve prolapse |
OMIM:616166 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... |
OMIM:609286 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... |
OMIM:620135 |
Noonan Syndrome 8 |
|
Failure to thrive, Ventricular septal defect, Large for gestational age, Mitral regurgitation, Pu... |
OMIM:615355 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Myopathy, Distal, 4 |
|
Cardiomyopathy |
OMIM:614065 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... |
OMIM:607876 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... |
ORPHA:137675 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure... |
OMIM:619913 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... |
OMIM:613870 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Salt And Pepper Developmental Regression Syndrome |
|
Status epilepticus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Myoclonus |
OMIM:609056 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
ORPHA:208441 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy |
OMIM:610100 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... |
OMIM:300280 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo... |
OMIM:620028 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Cardiomyopathy |
ORPHA:63273 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276556 |
Pontocerebellar Hypoplasia, Type 14 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure |
OMIM:619301 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Myotonic Dystrophy 1 |
|
Facial diplegia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... |
ORPHA:79102 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Cln3 Disease |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, T-wave inversion... |
ORPHA:228346 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Cardiomegaly, Third he... |
ORPHA:1329 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:619191 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,... |
OMIM:613156 |
Triose Phosphate-Isomerase Deficiency |
|
Hypertrophic cardiomyopathy |
ORPHA:868 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615362 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... |
ORPHA:1929 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy |
OMIM:619651 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Intrauterine growth retardation, Bilateral tonic-clonic seizure |
OMIM:618237 |
Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, Seizure |
OMIM:226750 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal... |
ORPHA:208447 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy |
OMIM:616833 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric... |
OMIM:619167 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:615476 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonic absence... |
OMIM:617836 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... |
ORPHA:398124 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Seizure, Bilateral tonic-clonic seizure, Concentric hypertrophic cardiomyopathy, Myoclonus |
OMIM:204200 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98855 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function |
OMIM:619492 |
Hemochromatosis, Type 2A |
|
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy |
OMIM:602390 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276575 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Short stature, Bilateral tonic-clonic seizure |
OMIM:617862 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Seizure, EEG with focal slow activity, Bilateral tonic-clonic seizure, Multifocal epileptiform di... |
ORPHA:209370 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Distal Myopathy, Welander Type |
|
Cardiomyopathy |
ORPHA:603 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with burst suppression, Clonic seizure, Myoclo... |
OMIM:617290 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Second degree atrioventricular block, Seizure, EEG abnormality, Pulmonary arterial ... |
OMIM:617021 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276580 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
Lissencephaly 3 |
|
Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure |
OMIM:611603 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Short stature, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:619065 |
Pontocerebellar Hypoplasia, Type 15 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure |
OMIM:619302 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl... |
OMIM:618497 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Hypotension |
OMIM:145600 |
Guanidinoacetate Methyltransferase Deficiency |
|
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ... |
ORPHA:382 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Bradycardia |
ORPHA:95717 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Focal clonic seizure, Myoclonus, Bradyca... |
OMIM:220120 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG abnormality, Seizure... |
OMIM:271980 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Focal impaired awareness seizure, Statu... |
OMIM:613970 |
Peho-Like Syndrome |
|
Status epilepticus, Bilateral tonic-clonic seizure, Myoclonus, Hypsarrhythmia |
OMIM:617507 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Atrial septal defect, Sup... |
ORPHA:97214 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Syncope, Palpit... |
ORPHA:422 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei... |
ORPHA:363558 |
Liddle Syndrome |
|
Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... |
ORPHA:98853 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Global systolic dysfunction |
OMIM:606842 |
Familial Infantile Myoclonic Epilepsy |
|
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... |
ORPHA:352582 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:614480 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:301020 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:616981 |
Lyme Disease |
|
Arrhythmia, Atrioventricular block |
ORPHA:91546 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... |
OMIM:618012 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... |
ORPHA:368 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, EEG a... |
OMIM:617810 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... |
ORPHA:308552 |
Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cardiac amyloidosis |
OMIM:105120 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Cerebral ... |
ORPHA:449285 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:620317 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, F... |
ORPHA:289266 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic ... |
OMIM:600721 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
Developmental And Epileptic Encephalopathy 47 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Multifocal epileptiform disch... |
OMIM:617166 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy |
ORPHA:1177 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98863 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Hypsarrh... |
OMIM:617105 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:620200 |
Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Hypsarrhythmia, ... |
OMIM:301058 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Tricuspid regurgitation, Pulmonic stenosis |
OMIM:619433 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Endocardial Fibroelastosis |
|
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2022 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy |
ORPHA:391457 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
Pituitary Adenoma 1, Multiple Types |
|
Left ventricular hypertrophy, Hypertension, Cardiomyopathy |
OMIM:102200 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Growth delay, Intrauterine growth retardation, Seizure, Bilateral tonic-clonic seizure |
ORPHA:488635 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Bilateral tonic-clonic seizure |
OMIM:618425 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Distal Myotilinopathy |
|
Cardiomyopathy |
ORPHA:98911 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Arrhythmia |
ORPHA:2928 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619616 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy |
OMIM:618234 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Mcleod Syndrome |
|
Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomyopathy, Myopathy |
OMIM:300842 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy |
OMIM:617713 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... |
OMIM:618775 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Tangier Disease |
|
Hepatomegaly, Myocardial infarction, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventr... |
OMIM:205400 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Bilateral tonic-clonic seizure, Pulmonic stenosis |
ORPHA:3129 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... |
ORPHA:49827 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618470 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... |
OMIM:613327 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
EEG abnormality, Generalized-onset seizure, Bilateral tonic-clonic seizure, Seizure |
OMIM:604317 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect |
ORPHA:40366 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy |
OMIM:610140 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy |
ORPHA:335 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia |
OMIM:616949 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy |
ORPHA:254857 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block |
ORPHA:392 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:608099 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, EEG abnormality, Convulsive status epilepticus |
OMIM:618760 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... |
OMIM:619428 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:250972 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Seizure, Bradycardia |
ORPHA:565624 |
Congenital Disorder Of Glycosylation, Type Im |
|
Seizure, Dilated cardiomyopathy, Bradycardia, Hypsarrhythmia |
OMIM:610768 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Bradycardia, Camptodactyly |
OMIM:610015 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Rhabdomyolysis, ... |
ORPHA:746 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Obesity, Hypomimic face |
ORPHA:93952 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Epistaxis, Intracranial hemorrhage, Hypertension, Second degree a... |
ORPHA:369929 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Syncope, Palpitations,... |
OMIM:170390 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Tachycardia, Bilateral tonic-clonic seizure, Seizure, Myoclonic spasms |
ORPHA:79264 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Cardiomyopathy |
OMIM:608807 |
Developmental And Epileptic Encephalopathy 66 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... |
OMIM:618067 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, EEG with photoparox... |
ORPHA:168491 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Kearns-Sayre Syndrome |
|
Cardiomyopathy, Arrhythmia, Seizure, Third degree atrioventricular block |
OMIM:530000 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, EEG with burst suppression, Hypsarrhythmia, Stat... |
OMIM:612164 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:618090 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic shock, Myofib... |
OMIM:619424 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure |
OMIM:301076 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Developmental And Epileptic Encephalopathy 79 |
|
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... |
OMIM:618559 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... |
OMIM:620351 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo... |
OMIM:612736 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations |
ORPHA:324575 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:300696 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Decreased nerve conduction velocity, Congestive heart failure, Arrhy... |
ORPHA:85446 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy |
OMIM:620270 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Arrhythmia |
OMIM:616516 |
Friedreich Ataxia |
|
Abnormal EKG, Congestive heart failure, Hypertrophic cardiomyopathy, Decreased sensory nerve cond... |
OMIM:229300 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Focal-onset seizure, Low-to-normal blood pressure, Syn... |
ORPHA:358 |
Gitelman Syndrome |
|
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, EEG abnormality, Bilateral tonic-clonic seizure, Abnormal pe... |
ORPHA:457205 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... |
OMIM:301500 |
Stiff-Person Syndrome |
|
Tachycardia, Hypertension, Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, Axia... |
OMIM:184850 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:615119 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Cantu Syndrome |
|
Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ... |
OMIM:239850 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Heart murmur, Myoclonic ... |
OMIM:617600 |
Rett Syndrome |
|
Abnormal T-wave, Seizure, Prolonged QTc interval, EEG abnormality |
OMIM:312750 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Foxg1 Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Severe post... |
ORPHA:561854 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Seizure, Status epilepticus, Bradycardia |
OMIM:619272 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
ORPHA:154 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... |
ORPHA:485350 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Multifocal seizures, Bilateral tonic-clonic seizure, Infanti... |
ORPHA:480864 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:618378 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Febrile seizu... |
OMIM:618917 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal impaired awareness seizure, Mi... |
OMIM:620292 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red... |
ORPHA:254892 |
Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension, Abnormal heart morphology |
ORPHA:391673 |
Orthostatic Hypotension 1 |
|
Weakness of facial musculature, Orthostatic hypotension, Atrial fibrillation |
OMIM:223360 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
Ogden Syndrome |
|
Atrial septal defect, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular se... |
OMIM:300855 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Bradycardia |
ORPHA:226313 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Lower limb muscle weakness |
OMIM:619737 |
Hyperekplexia 3 |
|
Syncope, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia |
ORPHA:157973 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Mahvash Disease |
|
Palpitations |
OMIM:619290 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... |
ORPHA:3426 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Cardiomyopathy |
OMIM:609308 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:70 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Infantile spasms, Focal impai... |
OMIM:617493 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Bradycardia |
ORPHA:95716 |
Atrophoderma Vermiculata |
|
Heart block |
ORPHA:79100 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Fatigable weakness of respiratory muscles, Cardiomyopathy, Abnormal atrioventricular conduction |
ORPHA:329336 |
Alpers-Huttenlocher Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:726 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Failure to thrive |
OMIM:269920 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:1369 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa... |
OMIM:212140 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy |
OMIM:615352 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Cardiomyopathy, Myofiber disarray |
OMIM:301075 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Bilateral tonic-clonic seizure |
OMIM:240900 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:310200 |
Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy, Hypertension, Failure to thrive |
ORPHA:320 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia |
OMIM:606069 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Short stature, Bilateral tonic-clonic seizure |
OMIM:615031 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:324588 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Lymphadenopathy |
ORPHA:26790 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... |
OMIM:619854 |
Distal Nebulin Myopathy |
|
Cardiomyopathy |
ORPHA:399103 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Seizure, Arrhythmia |
ORPHA:2151 |
Hemochromatosis, Type 2B |
|
Congestive heart failure, Cardiomyopathy |
OMIM:613313 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Bilateral tonic-clonic seizure |
ORPHA:100988 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m... |
OMIM:164310 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia, Focal impaired ... |
OMIM:619983 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:616281 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Severe Canavan Disease |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:314911 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Dilated cardiomyopathy, Reduced systolic function |
OMIM:616827 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Premature ventricular contraction, Hypertension, Atrial septal defect,... |
OMIM:602535 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Increased theta frequency activity in... |
ORPHA:98784 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia |
ORPHA:525731 |
16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology |
ORPHA:485405 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia |
OMIM:249270 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:617184 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, EEG with generalized epilepti... |
OMIM:619827 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block |
ORPHA:589821 |
Developmental And Epileptic Encephalopathy 61 |
|
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:617933 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... |
OMIM:614653 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Right ventr... |
OMIM:265400 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:618236 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Arrhythmia, Mildly reduced left ventricular ejection fraction |
OMIM:618098 |
High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... |
ORPHA:230851 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Hereditary Coproporphyria |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tachycardia |
ORPHA:79273 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Portal hypertension, Pericardial effusion, Hepatosplenomegaly, Weight... |
OMIM:619487 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure |
ORPHA:53583 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
EEG abnormality, Arrhythmia |
OMIM:273400 |
Neutral Lipid Storage Disease With Myopathy |
|
Cardiomyopathy |
OMIM:610717 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Gne Myopathy |
|
Cardiomyopathy |
ORPHA:602 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Myopathy, Myofibrillar, 4 |
|
Cardiomyopathy |
OMIM:609452 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... |
ORPHA:54251 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Seizure, Short stature, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:300558 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy |
OMIM:613752 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Growth delay, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:615716 |
Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
ORPHA:99725 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... |
OMIM:618652 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Short stature, Absent pubertal growth spurt, Bilateral tonic-clonic seizure, Seizure, Generalized... |
ORPHA:464282 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Cardiomyopathy |
ORPHA:399086 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, EEG with f... |
ORPHA:98795 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy |
OMIM:520000 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia |
OMIM:619877 |
Infantile Cerebellar-Retinal Degeneration |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614559 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly |
OMIM:618107 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve... |
OMIM:619698 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy |
OMIM:618229 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure |
OMIM:203740 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy |
ORPHA:67048 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:300423 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... |
OMIM:619705 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
EEG abnormality, Seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:529665 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:313772 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial septal defect |
ORPHA:261295 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Developmental And Epileptic Encephalopathy 8 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure |
OMIM:300607 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Sandhoff Disease, Infantile Form |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Mitral regurgitation, Myoclonus |
ORPHA:309155 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cachexia, Cardiomegaly, Myopathy, Distal arthrogryposis, A... |
ORPHA:42 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy |
OMIM:608540 |
Duchenne Muscular Dystrophy |
|
Cardiomyopathy |
ORPHA:98896 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Cardiomyopathy |
ORPHA:399058 |
Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia, Pulmonic stenosis |
ORPHA:228410 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy |
ORPHA:26792 |
Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Febrile seizure (within the age range of 3 months to 6 years), Arrhythmia, Focal impaired awarene... |
OMIM:620208 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Arrhythmia, Cardiac arrest |
ORPHA:168593 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... |
ORPHA:64280 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... |
ORPHA:576 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... |
ORPHA:3427 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:619003 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, EEG with generalized epilepti... |
ORPHA:488613 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death |
ORPHA:156 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Bilateral tonic-clonic seizure |
OMIM:618120 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia |
ORPHA:29822 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy |
OMIM:612989 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Pulmonic... |
OMIM:616564 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... |
OMIM:614921 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Atonic seizure, ... |
ORPHA:501 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... |
ORPHA:268 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Hypsarrhythmia |
OMIM:271900 |
Tularemia |
|
Tachycardia |
ORPHA:3392 |
Thrombotic Thrombocytopenic Purpura |
|
Arrhythmia, Myocardial infarction |
ORPHA:54057 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Atrioventricular block |
ORPHA:371428 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Bilateral tonic-clonic seizure, Cerebral hemorrhage, Dilated cardiomyopa... |
OMIM:620300 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke |
OMIM:611773 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Nephronophthisis 16 |
|
Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic stenosis |
OMIM:615382 |
American Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Achalasia |
ORPHA:3386 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Cardiomyopathy |
OMIM:232400 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... |
OMIM:618170 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Foca... |
OMIM:618325 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Bilateral tonic-clonic seizure, Infantile spasms, EEG with focal sharp waves, Hypsarrhythmia, Sei... |
ORPHA:79243 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Cardiomyopathy |
OMIM:613155 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Bilateral tonic-clonic seizure, Myocar... |
ORPHA:90068 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Myocardial infarction |
ORPHA:457240 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Sulfite Oxidase Deficiency, Isolated |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges |
OMIM:272300 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation |
ORPHA:976 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Sengers Syndrome |
|
Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiac arrest, Sudden cardiac death |
OMIM:212350 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... |
ORPHA:3287 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Spastic Ataxia 5, Autosomal Recessive |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614487 |
Recessive Mitochondrial Ataxia Syndrome |
|
ST segment elevation, Seizure |
ORPHA:94125 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... |
OMIM:614034 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
Spinocerebellar Ataxia 48 |
|
Bilateral tonic-clonic seizure |
OMIM:618093 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Seizure, Myoclonus, Telangiectasia |
ORPHA:93400 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:619911 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, EEG with focal epil... |
ORPHA:544503 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia |
ORPHA:139411 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... |
ORPHA:1332 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Congestive heart failure |
OMIM:619355 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... |
ORPHA:85443 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Failur... |
ORPHA:99931 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Rhabdomyolysis, Hypotension |
ORPHA:43116 |
Typhoid |
|
Gastrointestinal hemorrhage, Arrhythmia, Epistaxis, Cardiac arrest |
ORPHA:99745 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Small for gestational age, Splenomegaly, Bradycardia, Hypotension, Dec... |
ORPHA:90051 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Polyarteritis Nodosa |
|
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension |
ORPHA:767 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... |
OMIM:619835 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Small for gestational age, Small thenar eminence, Pulmonic stenosis, Camptodactyly, Left ventricu... |
OMIM:619148 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Sinus bradycardia, Congenital contracture, Arthrogryposis multiplex congenit... |
OMIM:618397 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... |
ORPHA:824 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Cardiomyopathy, Mitral regurgitation, Dilated cardiomyopathy, Telangiectasia of the skin |
OMIM:212112 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Abnormal heart valve morphology |
ORPHA:93476 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:603909 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy |
OMIM:610131 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
Alternating Hemiplegia Of Childhood |
|
Bilateral tonic-clonic seizure, Cardiac conduction abnormality, Focal motor seizure, EEG abnormal... |
ORPHA:2131 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Seizure |
OMIM:615351 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v... |
OMIM:201475 |
Infantile Refsum Disease |
|
Cardiomyopathy, Arrhythmia |
ORPHA:772 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Bradycardia |
ORPHA:90673 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Smith-Lemli-Opitz Syndrome |
|
Hypertension, Hypertrophic cardiomyopathy, Seizure, Ventricular fibrillation |
OMIM:270400 |
Behavioral Variant Of Frontotemporal Dementia |
|
Bilateral tonic-clonic seizure, EEG with continuous slow activity |
ORPHA:275864 |
Hyperoxaluria, Primary, Type I |
|
Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication |
OMIM:259900 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bradycardia, Hypotension, Arrhythm... |
ORPHA:94093 |
Familial Isolated Hypoparathyroidism |
|
Arrhythmia |
ORPHA:2238 |
Tibial Muscular Dystrophy |
|
Cardiomyopathy |
ORPHA:609 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Congestive heart failure, Abnormal aortic valve morphology, ... |
ORPHA:1194 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Failure to thrive in infancy, Camptodactyly |
OMIM:611209 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... |
OMIM:617877 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Atrial flutter, Overriding aorta, Ventricular septal defect |
OMIM:601927 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Neonatal death, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized myoclonic ... |
OMIM:615501 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy |
OMIM:616896 |
Thyroid Lymphoma |
|
Goiter, Lymphadenopathy |
ORPHA:97285 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... |
OMIM:616973 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Arrhythmia, Dilated cardiomyopathy |
OMIM:615084 |
Singleton-Merten Syndrome 2 |
|
Arrhythmia, Aortic valve stenosis |
OMIM:616298 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy |
OMIM:610773 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:230839 |
Heart-Hand Syndrome Type 2 |
|
Arrhythmia |
ORPHA:1350 |
Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Intermediate Nemaline Myopathy |
|
Cardiomyopathy |
ORPHA:171433 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Pitt-Hopkins-Like Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, EEG abnormality, Stat... |
OMIM:610042 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy |
OMIM:604250 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism |
ORPHA:624 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... |
OMIM:620152 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonus, EEG with occipital epileptiform disch... |
ORPHA:254881 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Leber Optic Atrophy |
|
Arrhythmia |
OMIM:535000 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Cardiomyopathy |
ORPHA:119 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... |
ORPHA:465508 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy |
OMIM:500007 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia |
ORPHA:263455 |
Cardiac-Urogenital Syndrome |
|
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Congenital diaphrag... |
OMIM:618280 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:3173 |
Mucopolysaccharidosis Type 3 |
|
Seizure, Fatigable weakness of swallowing muscles, Reduced left ventricular ejection fraction, At... |
ORPHA:581 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy |
OMIM:246900 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
Houge-Janssens Syndrome 3 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... |
OMIM:618354 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy... |
ORPHA:273 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure |
OMIM:616083 |
Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:96 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve |
OMIM:617168 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Porphyria Variegata |
|
Hypertension, Tachycardia, Proximal muscle weakness in upper limbs |
ORPHA:79473 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... |
ORPHA:97297 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Cardiomyopathy, Abnormal cardiac ventricular function |
ORPHA:2394 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope |
ORPHA:230 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Postnatal growth retardation, Bilateral tonic-clonic seizure |
ORPHA:79350 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Myopathy, Myofibrillar, 6 |
|
Hypertrophic cardiomyopathy, Mitral regurgitation, Restrictive cardiomyopathy |
OMIM:612954 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Abnormality of pe... |
OMIM:601992 |
Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy |
OMIM:616483 |
Vici Syndrome |
|
Failure to thrive, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, At... |
OMIM:242840 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Neck muscle hypertrophy, Supraventricular arrhythmia |
ORPHA:420492 |
Bone Marrow Failure Syndrome 5 |
|
Growth delay, Short stature, Bilateral tonic-clonic seizure |
OMIM:618165 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Alg1-Cdg |
|
Cardiomyopathy, Abnormal heart morphology |
ORPHA:79327 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures |
OMIM:619725 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... |
ORPHA:99827 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Hypsar... |
ORPHA:457351 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Dextrocardia |
|
Abnormal EKG, T-wave inversion |
ORPHA:1666 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Generalized non-motor (absenc... |
OMIM:615398 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea... |
ORPHA:505248 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Cardiomyopathy, Arrhythmia |
ORPHA:228305 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
Early Infantile Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, EEG with burst supp... |
ORPHA:1934 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Prox... |
ORPHA:280365 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale |
ORPHA:88630 |
Bardet-Biedl Syndrome 1 |
|
Obesity, Hypertension, Abdominal obesity, Truncal obesity, Left ventricular hypertrophy |
OMIM:209900 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypertrophic cardiomyopathy |
OMIM:618241 |
Proximal Myopathy With Extrapyramidal Signs |
|
Cardiomyopathy |
ORPHA:401768 |
Lissencephaly Due To Tuba1A Mutation |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:171680 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Pelger-Huet Anomaly |
|
Mild short stature, Seizure, Bilateral tonic-clonic seizure |
OMIM:169400 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertro... |
OMIM:616897 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy |
OMIM:614879 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Status epilepticus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Myoclonus |
OMIM:616672 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology |
ORPHA:70472 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy |
OMIM:613561 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Arrhythmia |
ORPHA:3201 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy |
OMIM:617757 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Tachycardia, Dupuytren contracture, Myositis |
ORPHA:39812 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy |
OMIM:300438 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Tachycardia |
OMIM:223900 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Slende... |
ORPHA:466791 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) s... |
ORPHA:79351 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroglossia, Bradycardia |
ORPHA:90674 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Myositis, Myocarditis, Capillary leak, Hypotension |
ORPHA:36234 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Hypertrophic cardiomyopathy |
OMIM:620326 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short stature, Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Myoclonus |
ORPHA:364028 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Arrhythmia, Dilated cardiomyopathy |
ORPHA:352447 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges |
ORPHA:453510 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Arrhythmia |
ORPHA:57 |
Developmental And Epileptic Encephalopathy 49 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, EEG abnormality... |
OMIM:617281 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:619356 |
Acromesomelic Dysplasia 4 |
|
Third degree atrioventricular block |
OMIM:619636 |
Isolated Atp Synthase Deficiency |
|
Dilated cardiomyopathy, Myoclonic seizure, Seizure, Arrhythmia, Hypertrophic cardiomyopathy |
ORPHA:254913 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia |
ORPHA:79279 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... |
OMIM:603903 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
ORPHA:348 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... |
OMIM:614207 |
Proteus-Like Syndrome |
|
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:2969 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest |
OMIM:620167 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy |
OMIM:616549 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Hypertrophic cardiomyopathy |
OMIM:608358 |
Subaortic Stenosis-Short Stature Syndrome |
|
Arrhythmia |
ORPHA:3191 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology |
OMIM:618250 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:615538 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Wolff-Parkinson-White syndrome |
OMIM:601338 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cardiomyopathy |
ORPHA:254886 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:611126 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:231530 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Arrhythmia, Hypotension |
ORPHA:188 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Atrial situs ambiguous, Ventricular septal defect, Dextroca... |
ORPHA:99125 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart block, Ventricula... |
ORPHA:797 |
Hydrops Fetalis |
|
Arrhythmia, Capillary leak |
ORPHA:1041 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:618381 |
Myopathy, Myofibrillar, 2 |
|
Hypertrophic cardiomyopathy |
OMIM:608810 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Short stature, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:620070 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia... |
ORPHA:404443 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Cardiomyopathy |
ORPHA:324525 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure with focal onset, EEG with generalized polyspikes, Focal-onset sei... |
ORPHA:163681 |
Glycogen Storage Disease Iv |
|
Cardiomyopathy, Portal hypertension |
OMIM:232500 |
Melas |
|
Wolff-Parkinson-White syndrome, Bilateral tonic-clonic seizure, Cardiac conduction abnormality, F... |
ORPHA:550 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Cardiomyopathy |
ORPHA:1215 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Intrauterine growth retardation, Short stature, Bilateral tonic-clonic seizure |
ORPHA:423479 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Bilateral tonic-clonic seizure |
ORPHA:199354 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy |
OMIM:619386 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Cardiomyopathy |
ORPHA:79312 |
Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Cardiomyopathy |
OMIM:619046 |
Acute Intermittent Porphyria |
|
Proximal muscle weakness in lower limbs, Hypertension, Tachycardia, Proximal muscle weakness in u... |
ORPHA:79276 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Botulism |
|
Arrhythmia |
ORPHA:1267 |
Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:300590 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Abnormal cardiomyocyte morp... |
ORPHA:565612 |
Childhood-Onset Nemaline Myopathy |
|
Cardiomyopathy |
ORPHA:171439 |
Tangier Disease |
|
Left ventricular hypertrophy, Facial diplegia, Coronary artery stenosis, Hepatosplenomegaly |
ORPHA:31150 |
Nivelon-Nivelon-Mabille Syndrome |
|
Focal-onset seizure, Severe short stature, Bilateral tonic-clonic seizure |
OMIM:600092 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure... |
OMIM:619580 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Telangiectasia, Seizure, Myocl... |
ORPHA:247262 |
Meier-Gorlin Syndrome 7 |
|
Heart block, Second degree atrioventricular block |
OMIM:617063 |
Chromosome 2Q37 Deletion Syndrome |
|
Seizure, Arrhythmia |
OMIM:600430 |
Yellow Fever |
|
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Seizure, Reduced left ventricula... |
ORPHA:99829 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy |
ORPHA:369 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy |
OMIM:618437 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:611554 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Failure to thrive, Cardiomegaly |
ORPHA:349 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... |
ORPHA:158687 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypertrophic cardiomyopathy, Portal hypertension |
OMIM:619902 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Bradycardia |
OMIM:218700 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy... |
ORPHA:99901 |
Prune1-Related Neurological Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:544469 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Arrhythmia |
ORPHA:171876 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... |
ORPHA:99826 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Congestive heart failure |
ORPHA:52430 |
Hyperkalemic Periodic Paralysis |
|
Congestive heart failure, Arrhythmia |
ORPHA:682 |
3P25.3 Microdeletion Syndrome |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:435638 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Arrhythmia |
OMIM:106300 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy |
ORPHA:27 |
Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia |
ORPHA:60040 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
Leopard Syndrome 1 |
|
Bundle branch block, Hypertrophic cardiomyopathy, Third degree atrioventricular block, Pulmonic s... |
OMIM:151100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Cardiac arrest, Myofiber disarray |
OMIM:604377 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ... |
OMIM:300912 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Foodborne Botulism |
|
Arrhythmia |
ORPHA:228371 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Hypocalcemic seizures, Myoclonic spasms |
ORPHA:94090 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:618316 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy |
OMIM:617183 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Cardiomyopathy |
ORPHA:521411 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy |
OMIM:609015 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, Congestive heart failure |
OMIM:616866 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
Ritscher-Schinzel Syndrome 4 |
|
Focal-onset seizure, Short stature, Bilateral tonic-clonic seizure |
OMIM:619435 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... |
ORPHA:340 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Small for gestational age, ... |
OMIM:612289 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,... |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Chromosome Xp11.3 Deletion Syndrome |
|
Short stature, Bilateral tonic-clonic seizure |
OMIM:300578 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure |
ORPHA:481152 |
Castleman Disease |
|
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... |
ORPHA:160 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia |
OMIM:614437 |
1Q44 Microdeletion Syndrome |
|
Growth delay, Short stature, Bilateral tonic-clonic seizure |
ORPHA:238769 |
Warburg Micro Syndrome 3 |
|
Postnatal growth retardation, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:614222 |
Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:268940 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... |
ORPHA:509 |
Rheumatic Fever |
|
Myocarditis, Pericarditis, Epistaxis, Arrhythmia |
ORPHA:3099 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bilateral tonic-clonic seizure |
OMIM:616351 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Flexion contracture, Mitral re... |
OMIM:619127 |
Migraine, Familial Hemiplegic, 2 |
|
Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:602481 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Bilateral tonic-clonic seizure, Sudden cardiac death, Congestive heart failure, Dilated cardiomyo... |
ORPHA:73224 |
Hermansky-Pudlak Syndrome 10 |
|
EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure |
OMIM:617050 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Growth delay, Seizure, Generalized tonic seizure |
OMIM:617193 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... |
OMIM:602782 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Abnormal heart morphology, Mi... |
ORPHA:284984 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... |
OMIM:619313 |
Refsum Disease |
|
Heart block, Cardiomyopathy |
ORPHA:773 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Aortic valve atresia, Hypertens... |
OMIM:220111 |
3-Methylglutaconic Aciduria, Type Viii |
|
Seizure, Bradycardia |
OMIM:617248 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Splenomegaly, Hypertension, Atrial septal defect, Left ventricular hypertrophy, Pat... |
OMIM:613610 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy |
OMIM:618839 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Bilateral tonic-clonic seizure, Infantile spasms, Decreased ... |
OMIM:618733 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure with fo... |
OMIM:620024 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Seizure, Second degree atriove... |
ORPHA:3385 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Pulmonic stenosis |
OMIM:615802 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Bilateral tonic-clonic seizure, Growth delay, Seizure, Myoclonic spasms, Neonatal death |
OMIM:252160 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... |
ORPHA:727 |
Developmental And Epileptic Encephalopathy 95 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppress... |
OMIM:618143 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypertension, Palpitations, Epistaxis |
ORPHA:231580 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar... |
ORPHA:2463 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Seizure, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pul... |
ORPHA:466650 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
EEG abnormality, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-c... |
OMIM:617798 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... |
ORPHA:100078 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy |
OMIM:619053 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... |
OMIM:620224 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Decreased body weight, Neonatal dea... |
OMIM:608013 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... |
OMIM:608836 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Intrauterine growth retardation, Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:614299 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Fatigable weakness, Hypotension, Arrhythmia, Cortical myoclonus |
ORPHA:428 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Congestive heart failure, Cardiomyopathy, Seizure, Fatigable weakness of neck muscles, Arrhythmia |
ORPHA:26791 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia |
ORPHA:228308 |
Penoscrotal Transposition |
|
Cardiomyopathy |
ORPHA:2842 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Bilateral tonic-clonic seizure |
ORPHA:369840 |
Distal Deletion 12Q |
|
Failure to thrive in infancy, Elbow flexion contracture, Obesity, Congenital hypertrophy of left ... |
ORPHA:96149 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy |
OMIM:611719 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei... |
ORPHA:395 |
Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia |
ORPHA:31824 |
Immunodeficiency 87 And Autoimmunity |
|
Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp... |
OMIM:619573 |
Alg3-Cdg |
|
Cardiomyopathy |
ORPHA:79321 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Generalized non-motor (absenc... |
ORPHA:369837 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect |
OMIM:616651 |
Ogden Syndrome |
|
Cardiogenic shock, Arrhythmia |
ORPHA:276432 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Macroglossia, Bradycardia |
ORPHA:226307 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... |
OMIM:615415 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cardiomyopathy |
OMIM:617710 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... |
ORPHA:500 |
Genetic Recurrent Myoglobinuria |
|
Arrhythmia, Fatigable weakness of swallowing muscles |
ORPHA:99845 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Arrhythmia |
ORPHA:2878 |
Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:606054 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Achalasia, Ineffective esophageal peristalsis, Sinus bradycardia |
OMIM:619482 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Bilateral tonic-clonic seizure, Cardiac conduction abnormality, Infantile spasms, Dilated cardiom... |
ORPHA:255210 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, EEG with burst suppres... |
ORPHA:79139 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short stature, Bilateral tonic-clonic seizure, Postnatal growth retardation, Seizure, Generalized... |
OMIM:257300 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cardiomyopathy, Mitral regurgitation, Mitral valve prolapse |
OMIM:258450 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy |
ORPHA:848 |
Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Hypertrophic cardiomyopathy |
ORPHA:1842 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ... |
ORPHA:183 |
Glass Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Short stature, Bilateral ... |
OMIM:612313 |
Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Cardiomyopathy |
ORPHA:329478 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Seizure, Mitral regurgitation, Arrhythmia |
ORPHA:254346 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato... |
ORPHA:85450 |
Congenital Enterovirus Infection |
|
Myocarditis, Cardiomyopathy, Pericardial effusion, Hypotension |
ORPHA:292 |
Gm1-Gangliosidosis, Type I |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart val... |
OMIM:230500 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Atrial septal defect, Atrial fibrillation, Bicuspid aortic valve, Subara... |
OMIM:613795 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... |
ORPHA:247691 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... |
OMIM:309801 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Part... |
OMIM:270100 |
Oliver Syndrome |
|
Intrauterine growth retardation, Bilateral tonic-clonic seizure |
ORPHA:2920 |
Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613224 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:478029 |
Mgat2-Cdg |
|
Infantile spasms, Hypsarrhythmia, Seizure, Reflex asystolic syncope, Arrhythmia |
ORPHA:79329 |
Legionnaires Disease |
|
Myocarditis, Pericarditis, Arrhythmia, Hypotension |
ORPHA:549 |
Biotinidase Deficiency |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generalized myocl... |
ORPHA:79241 |
Ivic Syndrome |
|
Arrhythmia |
ORPHA:2307 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy |
ORPHA:5 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Growth delay, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clon... |
ORPHA:496641 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy |
OMIM:614462 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Growth delay, Bilateral tonic-clonic seizure |
ORPHA:436159 |
W Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:2804 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy |
OMIM:618835 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Tonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, Pulmonary ... |
OMIM:620029 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:496790 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Muscle hypertrophy of the lower extrem... |
ORPHA:1772 |
Congenital Heart Defects, Multiple Types, 9 |
|
Pulmonic stenosis, Left axis deviation |
OMIM:620294 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Short stature, Bilateral tonic-clonic seizure, Growth delay, Seizure, Focal impaired awareness se... |
OMIM:617799 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Jaberi-Elahi Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:617988 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Seizure, Dilated cardiomyopathy |
ORPHA:66634 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:3044 |
Wolfram Syndrome 1 |
|
Cardiomyopathy |
OMIM:222300 |
Agel Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:85448 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cardiomyopathy |
ORPHA:370959 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
ORPHA:329308 |
X Small Rings |
|
Seizure, Mitral stenosis, Bilateral tonic-clonic seizure |
ORPHA:96201 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Amish Lethal Microcephaly |
|
Bilateral tonic-clonic seizure |
ORPHA:99742 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Arrhythmia |
ORPHA:397 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Vici Syndrome |
|
Cardiomyopathy |
ORPHA:1493 |
Webb-Dattani Syndrome |
|
Short stature, Bilateral tonic-clonic seizure |
OMIM:615926 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:2348 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Supraventricular arrhythmia |
ORPHA:2959 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Bilateral tonic-clonic seizure, Portal hypertension, Pulmonary hemorrhage |
ORPHA:79124 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure |
ORPHA:79083 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
16P11.2P12.2 Microdeletion Syndrome |
|
Arrhythmia, Tricuspid regurgitation |
ORPHA:261211 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Arrhythmia |
OMIM:171480 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Cardiomyopathy |
OMIM:201470 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Cardiomyopathy, Dilatation of the ventricular cavity |
ORPHA:363623 |
Martsolf Syndrome 1 |
|
Cardiomyopathy, Cardiac arrest, Congestive heart failure |
OMIM:212720 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:615895 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple... |
OMIM:252500 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Arrhythmia |
ORPHA:3220 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemic seizures |
ORPHA:71212 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Cardiomyopathy, Epistaxis |
OMIM:203300 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Acquired Generalized Lipodystrophy |
|
Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension |
ORPHA:79086 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Cardiomyopathy |
OMIM:614922 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Seizure |
OMIM:300352 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Seizure, Dilated cardiomyopathy, Bilateral tonic-clonic seizure, Concentric hypertrophic cardiomy... |
OMIM:610505 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia |
ORPHA:33001 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Failure to thrive |
OMIM:230000 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Pulmonic stenosis, Atrial septal defe... |
OMIM:605275 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Localized Scleroderma |
|
Raynaud phenomenon, Vasculitis, Seizure, Focal impaired awareness seizure, Arrhythmia |
ORPHA:90289 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave |
ORPHA:444072 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Growth delay, Seizure, Postnatal growth retardation, Bilateral tonic-clonic seizure |
OMIM:301040 |
Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Seizure, Arrhythmia |
ORPHA:2874 |
Congenital Generalized Lipodystrophy |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:528 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Arrhythmia |
ORPHA:157 |
Plague |
|
Tachycardia, Hematemesis, Endocarditis, Hypotension, Arrhythmia |
ORPHA:707 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen... |
ORPHA:50918 |
Aicardi-Goutieres Syndrome 1 |
|
Cardiomyopathy, Vasculitis |
OMIM:225750 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Seizure, Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:615471 |
Gm1 Gangliosidosis |
|
Congestive heart failure, Abnormal heart morphology, Ventricular septal defect, Cardiomyopathy |
ORPHA:354 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertension, Hypertrophic cardiomyopathy, Seizure, Arrhythmia |
OMIM:614052 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:612938 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Arrhythmia |
OMIM:619184 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy |
OMIM:618810 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:619121 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
8P23.1 Microdeletion Syndrome |
|
Tetralogy of Fallot, Abnormal cardiac septum morphology, Hypoplastic left heart, Transposition of... |
ORPHA:251071 |
Hennekam-Beemer Syndrome |
|
Seizure, Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:2135 |
Degcags Syndrome |
|
Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Pulmonic stenosis, Atrial sept... |
OMIM:619488 |
Noonan Syndrome 4 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:610733 |
Kinsship Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absenc... |
OMIM:619297 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Primary Hyperoxaluria |
|
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication |
ORPHA:416 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Cardiomyopathy |
ORPHA:206549 |
3-Methylglutaconic Aciduria Type 7 |
|
Cardiomyopathy |
ORPHA:445038 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Generalized non-motor (absence) seizure, Cardiomyopathy, Seizure, Reduced le... |
ORPHA:258 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:3071 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms, Hypsarrhythmia |
ORPHA:447997 |
Dpagt1-Cdg |
|
Prolonged QT interval, Epileptic spasm, Focal motor seizure, Hypsarrhythmia, Intracranial hemorrh... |
ORPHA:86309 |
Hallermann-Streiff Syndrome |
|
Hypertension, Bilateral tonic-clonic seizure, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Weaver Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:277590 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy |
ORPHA:88618 |
Hamamy Syndrome |
|
Mitral regurgitation, Prolonged QRS complex |
OMIM:611174 |
Cartilage-Hair Hypoplasia |
|
Heart block, Cardiomyopathy, EEG abnormality |
ORPHA:175 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Generalized myoclonic seizure, Hypovolemia, Bilateral tonic-clonic seizure |
ORPHA:99885 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy |
OMIM:616051 |
D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity, Seizure, Bilateral tonic-clonic seizure |
OMIM:261515 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma |
OMIM:191100 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Cardiomyopathy, Mitral regurgitation, Pulmonary arterial hypertension, M... |
OMIM:253200 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli... |
ORPHA:3260 |
Abetalipoproteinemia |
|
Hepatomegaly, Failure to thrive, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower l... |
ORPHA:14 |
De Sanctis-Cacchione Syndrome |
|
Bilateral tonic-clonic seizure, Telangiectasia |
OMIM:278800 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cardiomyopathy, Abnormal cardiac septum morphology |
OMIM:217980 |
Hurler Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Cardiomyopathy, Hypertension, Endocardial fibro... |
ORPHA:93473 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Growt... |
OMIM:301044 |
Usher Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology |
ORPHA:886 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Failure to thrive |
OMIM:618278 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse |
OMIM:619745 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Hurler Syndrome |
|
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:607014 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Myoclonic spasms, Hypocalcemic seizures |
ORPHA:94089 |
Friedreich Ataxia |
|
Cardiomyopathy |
ORPHA:95 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Cardiac myxoma, Congestive heart failure |
OMIM:181270 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy |
ORPHA:231226 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Cardiomyopathy |
OMIM:616084 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... |
ORPHA:466943 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypertrophic cardiomyopathy |
OMIM:607426 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Hepatomegaly, Failure to thrive, Camptodactyly of finger, Cardiomegaly, ... |
OMIM:256040 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short stature, Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Generalized myoc... |
ORPHA:268261 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia |
OMIM:153400 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... |
OMIM:130650 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Pulmona... |
ORPHA:221 |
Kleefstra Syndrome |
|
Seizure, Arrhythmia |
ORPHA:261494 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cardiomyopathy |
ORPHA:572798 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Cardiomyopathy |
ORPHA:98907 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma |
OMIM:613254 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Bilateral tonic-clonic seizure, Concentric hypertrophic cardiomyopathy |
OMIM:252010 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:618426 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericardial effusion, Cardiomyopathy, Pericarditis |
OMIM:212065 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure |
ORPHA:466950 |
Scimitar Syndrome |
|
Heart block, Congestive heart failure, Left-to-right shunt, Pulmonary arterial hypertension |
ORPHA:185 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
OMIM:241080 |
Kawasaki Disease |
|
Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Arrhythmia |
ORPHA:2331 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Growth delay, Seizure, Delayed puberty, Febr... |
ORPHA:459070 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Seizure, Bilateral tonic-clonic seizure with focal onset |
ORPHA:488627 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure |
OMIM:619512 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy |
ORPHA:231214 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Macroglossia, Mitral valve prolapse |
ORPHA:369950 |
Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Abnormal heart valve morphology |
OMIM:253220 |
Ulnar-Mammary Syndrome |
|
Arrhythmia |
ORPHA:3138 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal ... |
ORPHA:579 |
Familial Mediterranean Fever |
|
Pericarditis, Vasculitis, Arrhythmia, Myocardial infarction |
ORPHA:342 |
Wiskott-Aldrich Syndrome |
|
Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In... |
ORPHA:906 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hypertrophic cardiomyopathy |
ORPHA:436271 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy |
OMIM:618222 |
Tay-Sachs Disease |
|
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
Holoprosencephaly 14 |
|
EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:619895 |
Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Hypotension |
ORPHA:361 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cardiomyopathy |
ORPHA:264580 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... |
OMIM:609942 |
Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy |
ORPHA:79255 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heart murmur, Cardiomyopath... |
ORPHA:217085 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Seizure, Arrhythmia |
ORPHA:163746 |
Mucopolysaccharidosis Type 2 |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal heart morphology, ... |
ORPHA:580 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure |
ORPHA:508542 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Seizure, Pulmonic stenosis |
ORPHA:529962 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy |
OMIM:220110 |
Cockayne Syndrome B |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hypertension, Seizure, ... |
OMIM:133540 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heart murmur, Cardiomyopath... |
ORPHA:217093 |
Cockayne Syndrome A |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hypertension, Seizure, ... |
OMIM:216400 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy |
OMIM:618329 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... |
ORPHA:116 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Epistaxis |
ORPHA:79430 |
Oculodentodigital Dysplasia |
|
Seizure, Arrhythmia |
ORPHA:2710 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Myoclonic spasms, Hypocalcemic seizures |
ORPHA:79444 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
ORPHA:3464 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:280000 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy |
ORPHA:822 |
Pagod Syndrome |
|
Arrhythmia, Sudden cardiac death |
ORPHA:991 |
Toriello-Carey Syndrome |
|
Cardiomyopathy, Abnormal cardiac septum morphology, Tetralogy of Fallot, Pulmonic stenosis |
ORPHA:3338 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... |
OMIM:182250 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype... |
ORPHA:51 |
Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:769 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... |
ORPHA:3472 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Atrial septal defec... |
OMIM:617403 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke, Vasculiti... |
ORPHA:48435 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy |
ORPHA:3463 |
Oculodentodigital Dysplasia |
|
Seizure, Arrhythmia |
OMIM:164200 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort... |
ORPHA:904 |
Trichothiodystrophy |
|
Cardiomyopathy, Ventricular septal defect |
ORPHA:33364 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypertension, Myoclonic spasms, Hypocalcemic seizures |
ORPHA:79443 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Hartsfield Syndrome |
|
Growth delay, Bilateral tonic-clonic seizure |
OMIM:615465 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... |
ORPHA:513456 |
Neutral Lipid Storage Myopathy |
|
Cardiomyopathy, Congestive heart failure |
ORPHA:98908 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Failure to thrive in infancy, Cardiomegaly, P... |
ORPHA:51608 |
Gaucher Disease |
|
Generalized myoclonic seizure, Pulmonary arterial hypertension, Bilateral tonic-clonic seizure |
ORPHA:355 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:607721 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Isolated Complex I Deficiency |
|
Hypertrophic cardiomyopathy |
ORPHA:2609 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:612474 |
Amoebiasis Due To Free-Living Amoebae |
|
Seizure, Arrhythmia |
ORPHA:68 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Hypertrophic cardiomyopathy |
OMIM:616539 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy |
OMIM:613673 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral valve prolapse, Hypertrophic cardiomyopat... |
ORPHA:2556 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Seizure, Cardiomyopathy |
ORPHA:373 |
Choreoacanthocytosis |
|
Seizure, Dilated cardiomyopathy, Bilateral tonic-clonic seizure, Decreased amplitude of sensory a... |
ORPHA:2388 |
Cockayne Syndrome Type 3 |
|
Retinal hemorrhage, Cardiomyopathy, Subdural hemorrhage, Increased blood pressure |
ORPHA:90324 |
Noonan Syndrome |
|
Arrhythmia |
ORPHA:648 |
Holoprosencephaly |
|
Seizure, Arrhythmia |
ORPHA:2162 |
Orofaciodigital Syndrome Type 2 |
|
Short stature, Bilateral tonic-clonic seizure |
ORPHA:2751 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Generalized myoclonic-atonic seizure, Seizure, Short stature, Bilateral tonic-clonic seizure |
OMIM:614756 |
Oculoectodermal Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Transient ischemic attack |
OMIM:600268 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:457359 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363958 |
Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Pericardial effusion, Vasculitis, Hematochezia, Hypertension, Hypertrophic cardiomyo... |
OMIM:615846 |
Pearson Syndrome |
|
Cardiomyopathy, Cardiac conduction abnormality, Abnormal heart morphology |
ORPHA:699 |
Schwartz-Jampel Syndrome |
|
Pulmonary arterial hypertension, Arrhythmia |
ORPHA:800 |
Doors Syndrome |
|
EEG abnormality, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure |
ORPHA:79500 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertrophic cardiomyopathy, Portal hypertension |
ORPHA:309854 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... |
ORPHA:744 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia |
OMIM:250220 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval |
ORPHA:99880 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:620330 |
Tyrosinemia, Type I |
|
Melena, Hypertrophic cardiomyopathy, Gastrointestinal hemorrhage |
OMIM:276700 |
Parathyroid Carcinoma |
|
Shortened QT interval |
ORPHA:143 |
Specc1L-Related Hypertelorism Syndrome |
|
Arrhythmia |
ORPHA:1519 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Epileptic spasm, Seizure, Myoclonus, Pulmonic stenosis, Bilateral tonic-clonic seizure on awakeni... |
ORPHA:438213 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Arrhythmia, Pulmonic stenosis, Atrial septal de... |
OMIM:218040 |
Zimmermann-Laband Syndrome 1 |
|
Cardiomyopathy |
OMIM:135500 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cardiomyopathy |
OMIM:608594 |
Multiple Endocrine Neoplasia Type 1 |
|
Shortened QT interval, Hematemesis, Atypical absence status epilepticus, Melena, Hypertension |
ORPHA:652 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... |
ORPHA:363700 |
Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity, Arrhythmia |
ORPHA:285 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Cardiomyopathy, Total anomalous pulmonary venous return, Transposition... |
OMIM:312870 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertrophic cardiomyopathy, Ventricular septal hypertrophy |
OMIM:269700 |
Ulnar-Mammary Syndrome |
|
Arrhythmia |
OMIM:181450 |
Stickler Syndrome |
|
Arrhythmia |
ORPHA:828 |
Kabuki Syndrome 1 |
|
Short stature, Bilateral tonic-clonic seizure with focal onset, Postnatal growth retardation, Gro... |
OMIM:147920 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:881 |
Sotos Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ... |
ORPHA:821 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:480880 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo... |
OMIM:216340 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |