Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... |
OMIM:601493 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Inability to walk, Dilated cardiomyopathy, Elevated circulating creati... |
ORPHA:206559 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Bicuspid aortic valve, Ventricular escape rhythm, Mitral regurgitation, Left a... |
OMIM:616201 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge... |
OMIM:613694 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Abnormal circulating creatine kinase concentration, Reduced l... |
ORPHA:217607 |
Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... |
OMIM:618782 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... |
OMIM:614022 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... |
OMIM:601494 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... |
OMIM:614954 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... |
OMIM:613697 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... |
OMIM:600858 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Waddling gait, Right bundle branch block, Steppage gait, Elevated circulating creatine kinase con... |
OMIM:300695 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Interstitial cardiac fibrosis, Reduced left ventricular ejection fraction, ... |
OMIM:181350 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Bradycardia, Atrial fibrillation |
OMIM:613087 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Cardiac arrest, Elevated circulating creatine kinase concen... |
OMIM:212138 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Hyperpepsinogenemia I, Atrial standstill, Atrial cardiomyop... |
OMIM:615745 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Dystonia, Bradycardia, Ventricular septal defect |
OMIM:616277 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
OMIM:613158 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hyperalaninemia, Decreased plasma free carnitine, Left ventricular hyper... |
OMIM:619048 |
Dystonia 23 |
|
Writer's cramp, Limb dystonia, Torticollis, Gait disturbance, Head tremor, Axial dystonia, Arrhyt... |
OMIM:614860 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Dystonia, Hyperalaninemia, Bradycardia |
OMIM:614654 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Increased total bilirubin, Dystonia, Hyperprolinemia, Bradycardi... |
OMIM:616299 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Abnormal circulating creatine kinase concentration, Ventricular hypertrophy, Right bundle branch ... |
ORPHA:263297 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale, Bradycardia, Sick sinus syndrome |
OMIM:617182 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616276 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... |
OMIM:113900 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... |
OMIM:255160 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Pericardial effusion, Hypertrophic cardiomyopathy, Hyperammonemia, Dystonia, Car... |
OMIM:614702 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Arrhythmia, Elevated circulating creatine kinase concentration, Abnormal EKG |
OMIM:300376 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Right ventricular dilatation, Left ... |
OMIM:615616 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Hypocalcemi... |
OMIM:601005 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, S... |
ORPHA:101016 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Cardiomyocyte hy... |
OMIM:613507 |
Cln3 Disease |
|
Shuffling gait, T-wave inversion, Left ventricular hypertrophy, Ataxia, Loss of ambulation, Brady... |
ORPHA:228346 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... |
ORPHA:216694 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Elevated circulating cre... |
OMIM:615184 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Truncal ataxia, Bradycardia, Atrioventricular block, Dystonia, Intention tremor |
OMIM:614407 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... |
OMIM:115197 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
Tetanus |
|
Hypertension, Elevated circulating creatine kinase concentration, Tremor, Opisthotonus, Bradycard... |
ORPHA:3299 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Elevated circulating creatine kinase concentration, Loss of ambulation, Palpitations, Di... |
OMIM:616812 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Elevated circulati... |
OMIM:618775 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... |
OMIM:115195 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Gait disturbance, Heart block, Abnormal left ventricular function, Loss of ambulation, Fatigable ... |
ORPHA:98912 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95717 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block, Gait disturbance, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:616479 |
Developmental And Epileptic Encephalopathy 101 |
|
Opisthotonus, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... |
ORPHA:542306 |
Necrotizing Enterocolitis |
|
Hypotension, Shock, Abnormal heart morphology, Leukocytosis, Hyponatremia, Lethargy, Thrombocytop... |
ORPHA:391673 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology |
ORPHA:3319 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Lethargy, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95716 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Abnormal P wave, Lethargy, Third he... |
ORPHA:1329 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abn... |
ORPHA:85451 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... |
OMIM:612124 |
Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... |
OMIM:224700 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... |
ORPHA:75565 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Imperforate tricuspid valve, Right bundle branch block, Cerebral ischemia, ... |
ORPHA:1880 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... |
ORPHA:99106 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... |
ORPHA:439 |
Atrial Fibrillation, Familial, 15 |
|
Sudden cardiac death, Supraventricular tachycardia, Left atrial enlargement, Atrial flutter, Atri... |
OMIM:615770 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Bradycardia, Gait disturbance, Arrhythmia |
OMIM:609286 |
Illum Syndrome |
|
Bradycardia, Calcinosis |
OMIM:208155 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, Pericardial effusion, ST segment depression, Congestive heart fail... |
OMIM:261740 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem... |
ORPHA:99104 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia |
OMIM:608800 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Hyperphosphatemia, Hyperuricemia, Oculogyric crisis, Hypocalcemi... |
ORPHA:94093 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
Glutamine Deficiency, Congenital |
|
Hyperammonemia, Bradycardia, Hypoglutaminemia |
OMIM:610015 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Heart murmur, Gait disturbance, Hypertension, Elevated circul... |
ORPHA:437572 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperammonemia, Ventr... |
OMIM:600649 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Loss of ambulation, Right bundle branch block, Elevated circulating creatine kinase concentration |
ORPHA:254361 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Tip-toe gait, Inability to walk, Reduced left ventricular ejection fra... |
ORPHA:268 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Thrombocytopenia, Lethargy, Bradycardia |
OMIM:617397 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Third degree atrioventricular block, Hypoplasia of the thymus, Con... |
ORPHA:40366 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Hypertrophic car... |
ORPHA:276556 |
Eisenmenger Syndrome |
|
Atrioventricular canal defect, Aortopulmonary window, Ventricular arrhythmia, Supraventricular ar... |
ORPHA:97214 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal ... |
ORPHA:848 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Hypertrophic car... |
ORPHA:276575 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Opisthotonus, Bradycardia |
OMIM:220120 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Opisthotonus, Bradycardia |
OMIM:619272 |
Scorpion Envenomation |
|
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... |
ORPHA:466677 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated circulating creatine kinase concentration, Tachycardia, Prolonged QT interval, Hypertrig... |
OMIM:613327 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Elevated circulating creatine kinase concentration, Premature ventricu... |
OMIM:602668 |
Encephalitis Lethargica |
|
Lethargy, Tremor, Bradycardia |
ORPHA:83600 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... |
OMIM:300257 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Hypertension, Opisthotonus, Tachycardia |
OMIM:184850 |
Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
Sepsis In Premature Infants |
|
Hypotension, Splenomegaly, Anemia, Elevated circulating C-reactive protein concentration, Leukocy... |
ORPHA:90051 |
Lujo Hemorrhagic Fever |
|
Hypotension, Leukopenia, Resting tremor, Subconjunctival hemorrhage, Lymphopenia, Shock, Elevated... |
ORPHA:319213 |
Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Abnormal electrophysiology of sino... |
ORPHA:398124 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Leg dystonia, Tip-toe gait, Loss of ambulation, Bradycardia |
ORPHA:565624 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Increased circulating free fatty acid level, Ventricular septal defect, Per... |
ORPHA:26793 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Syncope, Hypertrophic cardiomyopathy, Palpitations, Lethargy, Tachycardia |
ORPHA:276580 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Lethargy, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:90673 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated circulating creatine kinase concentration, Left bundle branch block, Ventricular bigemin... |
OMIM:610131 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... |
OMIM:615344 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Juvenile Dermatomyositis |
|
Mucosal telangiectasiae, Calcinosis, Bundle branch block, Telangiectasia of the skin, Vasculitis,... |
ORPHA:93672 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Wolff-Parkins... |
ORPHA:137675 |
Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosus, Aortopulmo... |
ORPHA:2299 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Acquired Methemoglobinemia |
|
Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia |
ORPHA:464453 |
Marburg Hemorrhagic Fever |
|
Hypotension, Reticulocytosis, Elevated circulating creatine kinase concentration, Shock, Pericard... |
ORPHA:99826 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:612561 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Tremor, Tachycardia |
ORPHA:276608 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Palpitations, Le... |
ORPHA:324575 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration,... |
OMIM:145600 |
Fabry Disease |
|
Anemia, Abnormal circulating lipid concentration, Achalasia, Mucosal telangiectasiae, Transient i... |
ORPHA:324 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Elevated circulating creatine kinase concentra... |
ORPHA:99827 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia, Leth... |
ORPHA:90674 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathet... |
OMIM:608643 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Splenomegaly, Congestive heart failure, Autoimmune hemolytic anemia, T... |
ORPHA:90037 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Abnormal cardiac septum morphology |
ORPHA:589821 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal left ventricle morphology, Congestive heart failure, Arrhythmia, Abnorm... |
ORPHA:1055 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Tachycardia |
OMIM:221400 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Dextrotransposition of the great arteries, Left ventricular outflow tract obstruction, Ventricula... |
ORPHA:860 |
Hyperekplexia 3 |
|
Exaggerated startle response, Syncope |
OMIM:614618 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Proximal Spinal Muscular Atrophy |
|
Atrial septal defect, Bradycardia, Difficulty walking, Inability to walk |
ORPHA:70 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Right bundle branch block, Inability to walk, Ataxia, Dysmetria, Mitral regurgitation, Tricuspid ... |
OMIM:619576 |
Relapsing Fever |
|
Hypotension, Leukopenia, Anemia, Increased total bilirubin, Neutrophilia, Epistaxis, Elevated cir... |
ORPHA:91547 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Tremor, Tachycardia |
OMIM:613239 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Glossopharyngeal Neuralgia |
|
Jaw claudication, Syncope, Bradycardia |
ORPHA:221098 |
Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Abnormal mitral valve morphology, Bundle branch block, Mitral valv... |
ORPHA:500 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Mitral regurgitation, Mitral valve prolapse, Hepatosplenomegaly |
ORPHA:309155 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Extramedullary hematopoiesi... |
ORPHA:231226 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Limb dystonia, Athetosis |
ORPHA:621 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Bacterial endocarditis, Heart block |
ORPHA:1964 |
Yellow Fever |
|
Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Neutrophilia, Hyperbilir... |
ORPHA:99829 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Ventricular septal defect, Hypertension, Bradycardia, Tachycardia |
OMIM:614653 |
Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
Congenital Aortic Valve Stenosis |
|
Sudden cardiac death, Abnormal T-wave, Aortic valve atresia, Increased QRS voltage, Endocarditis,... |
ORPHA:3093 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia, Lethargy, Bradycardia |
OMIM:218700 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Decrea... |
ORPHA:231214 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Pulmonary insufficiency, Intention tremor, Ventricular septal hypertrophy |
OMIM:619322 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Highly elevated creatine kinase, Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating c... |
ORPHA:368 |
Sheehan Syndrome |
|
Palpitations, Hyponatremia, Orthostatic hypotension, Bradycardia, Normochromic anemia |
ORPHA:91355 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Primary Familial Polycythemia |
|
Epistaxis, Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elev... |
ORPHA:231222 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, ... |
OMIM:253800 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Palpitations, Tachycardia |
OMIM:188580 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Elevated carcinoembryonic antigen level, Abnormal circulating protein concentration, Tachycardia |
ORPHA:264675 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Hepatosplenomegaly, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
Mercury Poisoning |
|
Hypotension, Hypokalemia, Hypertension, Tremor, Dystonia, Tachycardia |
ORPHA:330021 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Tachycardia |
ORPHA:90036 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Dystonia, Sinus bradycardia |
OMIM:618397 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Left ventricular hypertrophy, Dilated cardiomyopathy, Pancytopenia, Ataxia, Lethargy... |
OMIM:618321 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Tremor, Neutropenia, Bradycardia |
OMIM:617248 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Opisthotonus, Polycythemia |
OMIM:250800 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Hypercalcemia, Ep... |
OMIM:171420 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Hyperbilirubinemia, Heart block, Capilla... |
ORPHA:542323 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... |
ORPHA:1686 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Inability to walk |
OMIM:609541 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Inability to walk |
ORPHA:97297 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Exaggerated startle response, Inability to walk, Gait distur... |
ORPHA:845 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Truncal titubation, Dysmetria, Tremor |
OMIM:618056 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Abnormal circulating thyroglobulin level, Lethargy, Bradycardia |
ORPHA:226307 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Inability to walk |
OMIM:620114 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Pulmo... |
ORPHA:3426 |
Nestor-Guillermo Progeria Syndrome |
|
Pulmonary arterial hypertension, Right bundle branch block, Sinus tachycardia, Hypertension, Mitr... |
OMIM:614008 |
Leopard Syndrome 1 |
|
Subvalvular aortic stenosis, Third degree atrioventricular block, Bundle branch block, Mitral val... |
OMIM:151100 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Anemia, Bradycardia, Dilated cardiomyopathy, Abnormal blood ion concentration |
ORPHA:79404 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Decreased plas... |
ORPHA:228308 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Chronic lymphatic leukemia, Congestive heart failure, Autoimmune hemolytic anemia, ... |
ORPHA:90033 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia |
OMIM:616881 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia, Broad-based gait, Ataxia |
ORPHA:438216 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Truncal ataxia, Limb ataxia, Broad-based gait, Persistence of hemoglobin F |
OMIM:617101 |
Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... |
ORPHA:90068 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response, Dystonia, Cardiomyopathy |
ORPHA:79255 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block |
OMIM:618590 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Inability to walk |
OMIM:617864 |
Scimitar Syndrome |
|
Pulmonary arterial hypertension, Double outlet right ventricle, Mitral atresia, Truncus arteriosu... |
ORPHA:185 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Patent foramen ovale, Right bundle branch block, Ventricular septal defect, Atrial septal defect,... |
OMIM:617506 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Right bundle branch block, Mitral valve prolapse, Atrial septal defect, Aortic regurgitation, Biv... |
OMIM:617402 |
Lead Poisoning |
|
Abnormal T cell morphology, Anemia, Hypertension, Imbalanced hemoglobin synthesis, Increased LDL ... |
ORPHA:330015 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Ineffective esophageal peristalsis, Achalasia, Difficulty walking, Sinus bradycardia |
OMIM:619482 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... |
ORPHA:980 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Hypercalcemia, Ep... |
OMIM:171300 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Ventricular septal defect, Reticulocytopenia, Pure red cell a... |
ORPHA:124 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Simpson-Golabi-Behmel Syndrome |
|
Ventricular septal defect, Bundle branch block, Polysplenia, Atrial septal defect, Prolonged QT i... |
ORPHA:373 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Bradycardia, Pulmonary insufficiency |
OMIM:614437 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Right bundle branch block, Hypoplastic right heart, Congestive heart failure, Atrial septal defec... |
OMIM:617403 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Atrial septal defect, Persistence of hemoglobin F |
OMIM:619769 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent foramen ovale, Exaggerated startle response, Anemia, Ventricular septal defect, Inability ... |
ORPHA:438213 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Myocardial necrosis, T... |
OMIM:260400 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Perimembranous ventricular septal ... |
OMIM:301040 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... |
ORPHA:3384 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... |
OMIM:618280 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pulmonary arterial hypertension, Double outlet right ventricle, Mitral atresia, Ventricular septa... |
ORPHA:99125 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Ventricular septal defect, Atrial septal defect |
OMIM:619522 |