Sinoatrial Node Dysfunction And Deafness |
|
Syncope, Increased heart rate variability, Hearing impairment, Bradycardia, Abnormal QRS complex |
OMIM:614896 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... |
OMIM:617280 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia |
OMIM:611938 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Thrombocytopenia, Epis... |
OMIM:616216 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
Long Qt Syndrome 15 |
|
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... |
OMIM:616249 |
Familial Short Qt Syndrome |
|
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans |
OMIM:618782 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... |
OMIM:611818 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... |
OMIM:609621 |
Long Qt Syndrome 5 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... |
OMIM:613695 |
His Bundle Tachycardia |
|
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy |
ORPHA:3283 |
Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Reticulocytosis, Hypertension, Increased mean corpuscular volume, Stom... |
ORPHA:90044 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... |
OMIM:261000 |
Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... |
ORPHA:1344 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... |
OMIM:140400 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Persistence of hemoglobin F, Atresia of the external auditory cana... |
OMIM:300946 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial... |
OMIM:616201 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation |
OMIM:600919 |
Romano-Ward Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Abnormal autonomic nervous ... |
ORPHA:101016 |
Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Sick Sinus Syndrome 1 |
|
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... |
OMIM:608567 |
Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Splenomegaly, Neutropenia |
OMIM:602079 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... |
OMIM:612240 |
Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... |
OMIM:619464 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Long Qt Syndrome 8 |
|
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... |
OMIM:618447 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Br... |
OMIM:601419 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Pulmonary arterial hypertension, Extramedullary hematopoiesis, Anemia, EEG abnormality, Hypertens... |
OMIM:617021 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Permanent atrial fibrill... |
OMIM:614022 |
Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... |
ORPHA:3202 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Sudden Cardiac Failure, Infantile |
|
Myocarditis, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Bradyca... |
OMIM:617222 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... |
OMIM:614021 |
Sick Sinus Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... |
OMIM:163800 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... |
OMIM:604772 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Erythroid hyperplasia, Anemia |
OMIM:206100 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Congenital sensorineur... |
OMIM:220400 |
Jervell And Lange-Nielsen Syndrome |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Arrhythmia, Bilateral sensorineural hearing ... |
ORPHA:90647 |
Overhydrated Hereditary Stomatocytosis |
|
Reticulocytosis, Hemolytic anemia, Pulmonary embolism, Increased mean corpuscular volume, Stomato... |
OMIM:185000 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased mean corpuscular volume, Melena,... |
ORPHA:98870 |
Overhydrated Hereditary Stomatocytosis |
|
Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... |
ORPHA:3203 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Optic Atrophy 8 |
|
Mitral regurgitation, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Opti... |
OMIM:616648 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... |
ORPHA:168796 |
Long Qt Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613688 |
Atrial Fibrillation, Familial, 9 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... |
OMIM:613980 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Bradycardia, EEG abnormality, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:618815 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Hypsarrhythmia, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia, Ventricular ... |
ORPHA:542306 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Sudden cardiac death, Congestive heart failure, Sinus... |
OMIM:601494 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity |
OMIM:601382 |
Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
Aminoacylase 1 Deficiency |
|
Bradycardia, Sensorineural hearing impairment |
OMIM:609924 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Sudden cardiac death, Premature ventricular con... |
OMIM:614916 |
Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... |
OMIM:194200 |
Long Qt Syndrome 6 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613693 |
Brugada Syndrome 1 |
|
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... |
OMIM:601144 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... |
OMIM:614049 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Bradycardia, Hearing impairment, Hypertrophic cardiomyopathy |
OMIM:616277 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Mitral regurgitation, Macrocytic ... |
OMIM:612561 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... |
OMIM:611528 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic dia... |
OMIM:612124 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... |
OMIM:615745 |
Cardiomyopathy, Dilated, 1G |
|
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... |
OMIM:604145 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Congenital ... |
OMIM:612347 |
Methylcobalamin Deficiency Type Cble |
|
Hypertension, Macrocytic anemia, Hearing impairment, Increased mean corpuscular volume, Pancytope... |
ORPHA:2169 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia |
OMIM:613839 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractions, Permanent atrial fib... |
OMIM:611493 |
Refractory Anemia With Excess Blasts |
|
Retinal hemorrhage, Leukocytosis, Abnormal mean corpuscular volume, Palpitations, Anemia of inade... |
ORPHA:86839 |
Ventricular Tachycardia, Familial |
|
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... |
ORPHA:66529 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616276 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Intrauterine growth retardation, Neonatal death |
OMIM:301021 |
Long Qt Syndrome 10 |
|
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... |
OMIM:611819 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... |
OMIM:615441 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Arrhythmia, Autonomic bladder dysfunction, Abnormal autonomic nervous system physio... |
ORPHA:330001 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
Long Qt Syndrome 14 |
|
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... |
OMIM:616247 |
Long Qt Syndrome 3 |
|
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... |
OMIM:603830 |
Long Qt Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... |
OMIM:192500 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... |
OMIM:610193 |
Brugada Syndrome 9 |
|
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope |
OMIM:616399 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Congestive heart failure |
OMIM:619048 |
Cardiomyopathy, Dilated, 2G |
|
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... |
OMIM:619897 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1O |
|
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... |
OMIM:608569 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Erythro... |
OMIM:616860 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela... |
OMIM:619774 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:127550 |
Cln3 Disease |
|
Bradycardia, T-wave inversion, Optic atrophy, Vacuolated lymphocytes |
ORPHA:228346 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... |
ORPHA:45452 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... |
OMIM:618920 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Palpitations, Supraventricular tachycardi... |
OMIM:608758 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... |
OMIM:609620 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... |
OMIM:611875 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Abcd Syndrome |
|
Polycythemia, Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal... |
OMIM:600501 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Ventricular tachycardia, Left ventricular outflow tract obstruction, Severely reduced left ventri... |
OMIM:613251 |
Majeed Syndrome |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequate production, Microcyti... |
OMIM:609628 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... |
OMIM:607450 |
Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia |
ORPHA:318 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Premature ventricular contr... |
OMIM:212138 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... |
OMIM:115000 |
Lipoyltransferase 1 Deficiency |
|
Bradycardia, Pulmonary arterial hypertension |
OMIM:616299 |
Cardiomyopathy, Dilated, 2F |
|
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... |
OMIM:619747 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Thrombocytopenia, Normochromic anemia, Persistent fetal circulation, Hypertrophic ca... |
OMIM:618775 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Ventricular arrhythmia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Diamond-Blackfan Anemia 7 |
|
Atresia of the external auditory canal, Macrocytic anemia, Hearing impairment, Increased mean cor... |
OMIM:612562 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Decreased mean corpuscular volume, Hypochromia, Poikilocytosis, Splenomegaly |
OMIM:615234 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Prominent antihelix, Macrotia, Atrioventricular block |
OMIM:614407 |
Brugada Syndrome 7 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... |
OMIM:613120 |
Developmental And Epileptic Encephalopathy 101 |
|
Bradycardia, Third degree atrioventricular block |
OMIM:619814 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Optic atrophy, EEG with burst suppression, Abnormal autonomic nervous system physiology |
OMIM:614498 |
16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Protruding ear, Optic nerve hypoplasia, Hearing impairment, Increased mean ... |
ORPHA:261250 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... |
OMIM:609040 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Hearing impairment, Increased ... |
OMIM:617052 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Syncope, Palpitations, A... |
OMIM:612098 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pr... |
OMIM:601005 |
Tetanus |
|
Hypertension, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Bradyc... |
ORPHA:3299 |
Eisenmenger Syndrome |
|
Tricuspid regurgitation, Supraventricular arrhythmia, Angina pectoris, Atrial fibrillation, Pulmo... |
ORPHA:97214 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Bradycardia, Optic atrophy, Hypertrophic cardiomyopathy |
OMIM:614702 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus, Bilateral sensorineural hearing impairment, Cupped ear, Bradycardia, Th... |
ORPHA:40366 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment depression, ... |
OMIM:261740 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Anemia, Arrhythmia, Abnormal autonomic ... |
ORPHA:85451 |
Atrial Septal Defect, Sinus Venosus Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... |
ORPHA:99105 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Leukopenia, Aplastic anemia, Anemia, Leukemia, Chronic neutropenia, Neutropeni... |
ORPHA:811 |
Necrotizing Enterocolitis |
|
Leukocytosis, Hypotension, Thrombocytopenia, Shock, Bradycardia, Neutropenia |
ORPHA:391673 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Bradycardia, Arrhythmia, Cardiomyopathy, Progressive hearing impairment |
OMIM:609286 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation |
OMIM:620231 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Cardiomyopathy, Dilated, 1Ii |
|
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... |
OMIM:615184 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
EEG abnormality, Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy |
OMIM:617519 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Optic disc pallor, Poiki... |
OMIM:616959 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Diamond-Blackfan Anemia |
|
Low-set ears, Acute myeloid leukemia, Leukopenia, Pure red cell aplasia, Persistence of hemoglobi... |
ORPHA:124 |
Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Pulmonary arterial hypertension, Leukocytosis, High-output congestive heart f... |
ORPHA:231222 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Reticulocytosis, Hemolytic anemia |
OMIM:611590 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment |
OMIM:125250 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Ventricular fibrillation, Paroxysmal ventricular tachycardia, T-wave invers... |
OMIM:613507 |
Glutamine Deficiency, Congenital |
|
Bradycardia, Low-set ears |
OMIM:610015 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Left bundle branch block, First degree atrioventricular block |
OMIM:615616 |
Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Anisocytosis, High-output congestive heart failure, Extramedullary hematopoie... |
ORPHA:231226 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... |
ORPHA:300751 |
Familial Thyroid Dyshormonogenesis |
|
Bradycardia, Sensorineural hearing impairment |
ORPHA:95716 |
Pseudo-Torch Syndrome 2 |
|
Bradycardia, Thrombocytopenia, Cerebral hemorrhage |
OMIM:617397 |
Sepsis In Premature Infants |
|
Leukocytosis, Hypotension, Anemia, Thrombocytopenia, Bradycardia, Tachycardia, Splenomegaly, Neut... |
ORPHA:90051 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Hypsarrhythmia, EEG abnormality, Decreased nerve conduction velocity, Optic disc pallor, Bradycardia |
ORPHA:565624 |
Beta-Thalassemia Major |
|
Hepatosplenomegaly, Anisopoikilocytosis, High-output congestive heart failure, Extramedullary hem... |
ORPHA:231214 |
Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment |
ORPHA:1055 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Supravalvular ... |
ORPHA:439232 |
D-Glyceric Aciduria |
|
Bradycardia, Hypsarrhythmia, Sensorineural hearing impairment, Optic nerve hypoplasia |
OMIM:220120 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... |
ORPHA:216694 |
Glossopharyngeal Neuralgia |
|
Syncope, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Bradycardia, Jaw ... |
ORPHA:221098 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Reticulocytop... |
ORPHA:300298 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Cardiomyopathy, Sensorineural he... |
ORPHA:1215 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia |
OMIM:616812 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Palpitations, Angina pectoris, Hypertrophic cardiomyopathy, Atrial fibri... |
OMIM:613873 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... |
ORPHA:35858 |
Peripartum Cardiomyopathy |
|
Myocarditis, Pulmonary arterial hypertension, Abnormal T-wave, Mitral regurgitation, Ventricular ... |
ORPHA:563 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Congestive heart failure, Splenomegaly |
ORPHA:90037 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Hypsarrhythmia, Dilated cardiomyopathy |
OMIM:610768 |
Diamond-Blackfan Anemia 5 |
|
Low-set ears, Leukopenia, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia |
OMIM:612528 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Leukopenia, Hypotension, Lymphopenia, Subconjunctival hemorrhage, Thro... |
ORPHA:319213 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... |
OMIM:108950 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... |
OMIM:601596 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Bradycardia, Pulmonary arterial hypertension |
OMIM:619272 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Hypotension, Arrhythmia, Hypertension, Pulmonary embolism, Abnormal autonomic nervo... |
ORPHA:94093 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Sensorineural hearing impairment |
OMIM:221400 |
Acquired Methemoglobinemia |
|
Methemoglobinemia, Syncope, Palpitations, Arrhythmia, Tachycardia |
ORPHA:464453 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Tachycardia, Splenomegaly, Bradycardia, Prolonged QT interval, Atrial fibrillation |
OMIM:613327 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval |
OMIM:615378 |
Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Hypochromia, Macrocytic anem... |
ORPHA:71275 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Cardiomyopathy, Dilated, 1Y |
|
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con... |
OMIM:611878 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Bundle branch block, Neutrophilia, Bradycardia, Epistaxis, Pulmonary a... |
ORPHA:99827 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Hypotension, Anemia, Thrombocytopenia, Neutrophilia, Epistaxis, Tachyca... |
ORPHA:91547 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Coronary Arterial Fistula |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... |
ORPHA:2041 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Vestibular areflexia, Thrombocytopenia, Absent brainstem auditory ... |
ORPHA:3240 |
Sheehan Syndrome |
|
Palpitations, Normochromic anemia, Sensorineural hearing impairment, Orthostatic hypotension, Bra... |
ORPHA:91355 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal cochlea morphology, Prelingual sensorineural hearin... |
ORPHA:52368 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Low-set ears, Hypertension, Bradycardia, Tachycardia, Retinal hemorrhage |
OMIM:614653 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Congestive heart failure, Tachycardia, S... |
ORPHA:90033 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hemolytic anemia |
ORPHA:529799 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Reticulocytosis, Leukopenia, Hypotension, Capillary leak, ... |
ORPHA:99826 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Hypotension, Chronic myelomonocytic ... |
ORPHA:98849 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment |
OMIM:619260 |
Paragangliomas 3 |
|
Palpitations, Tachycardia, Pulsatile tinnitus, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Proximal Spinal Muscular Atrophy |
|
Bradycardia, Facial diplegia |
ORPHA:70 |
Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
Yellow Fever |
|
Leukocytosis, Reduced left ventricular ejection fraction, Capillary leak, Neutrophilia, Supravent... |
ORPHA:99829 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
Castleman Disease |
|
Restrictive cardiomyopathy, Thrombocytopenia, Decreased mean corpuscular volume, Anemia |
ORPHA:160 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
Infantile Krabbe Disease |
|
Abnormal heart rate variability, Decreased nerve conduction velocity, Hearing impairment, Prolong... |
ORPHA:206436 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Hypsarrhythmia, Sinus bradycardia |
OMIM:618397 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia |
ORPHA:90036 |
3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia, Sensorineural hearing impairment, Neutropenia |
OMIM:617248 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... |
ORPHA:206443 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Paragangliomas 1 |
|
Conductive hearing impairment, Palpitations, Hypertension associated with pheochromocytoma, Tachy... |
OMIM:168000 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Anemia, Hypertension, Hearing impairment, Abnormality of per... |
ORPHA:90321 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Pulmona... |
ORPHA:1329 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... |
OMIM:171420 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hepatosplenomegaly, Hypoplasia of the semicircular canal, Short-segment aganglionic megacolon, Ab... |
OMIM:609136 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia |
ORPHA:90674 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Abnormal auditory ev... |
ORPHA:99027 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Bohring-Opitz Syndrome |
|
Bradycardia, Low-set, posteriorly rotated ears, Optic atrophy |
ORPHA:97297 |
Renal Nutcracker Syndrome |
|
Anemia, Syncope, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Tachycardia |
ORPHA:71273 |
Mogs-Cdg |
|
Hepatosplenomegaly, Absent brainstem auditory responses, Thrombocytopenia, Sensorineural hearing ... |
ORPHA:79330 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... |
ORPHA:101085 |
Histiocytoid Cardiomyopathy |
|
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Supraventricu... |
ORPHA:137675 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Bradycardia, Low-set ears, Pulmonary insufficiency, Abnormal pinna morphology |
OMIM:614437 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Arrhythmia, Hypertension, Decreased nerve conduction velocity, Abnorma... |
OMIM:133540 |
Cockayne Syndrome A |
|
Abnormal pinna morphology, Arrhythmia, Hypertension, Decreased nerve conduction velocity, Abnorma... |
OMIM:216400 |
Carney Triad |
|
Anemia, Arrhythmia, Hypertension, Gastrointestinal hemorrhage, Tachycardia |
ORPHA:139411 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Bradycardia, Dilated cardiomyopathy, Anemia |
ORPHA:79404 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Bradycardia, Sensorineural hearing impairment, Optic nerve hypoplasia |
ORPHA:226307 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
Trisomy 10P |
|
Low-set ears, Low voltage EEG, EEG with focal spikes, Posteriorly rotated ears, Abnormal auditory... |
ORPHA:171929 |
Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic di... |
ORPHA:909 |
Paragangliomas 4 |
|
Palpitations, Tachycardia, Pulsatile tinnitus, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials, Aortic valve stenosis |
ORPHA:401973 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
Coffin-Siris Syndrome |
|
Hearing impairment |
ORPHA:1465 |
Coffin-Siris Syndrome 8 |
|
|
OMIM:618362 |