| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Bradycardia, Abnormal QRS complex, Hearing impairment |
OMIM:614896 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... |
OMIM:616515 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Iron deficiency anemia, Neutropenia, Progressive sensorineural he... |
ORPHA:494444 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Sensorineural hearing impairment, I... |
OMIM:155100 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Thrombocytopenia 1 |
|
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge... |
OMIM:313900 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... |
OMIM:314050 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... |
ORPHA:320401 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocardial infarction, Sensorin... |
ORPHA:182050 |
| Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... |
OMIM:601419 |
| 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 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... |
OMIM:231200 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Syncope... |
OMIM:220400 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Sensorineural hearing impairment, Macrothrombocytopenia, Thrombocy... |
OMIM:124900 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... |
OMIM:617718 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage |
ORPHA:238459 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Prematu... |
OMIM:612347 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Syncope, Bilateral sensorineural hearing impairment, Torsade de pointes, ... |
ORPHA:90647 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolonged PR interva... |
ORPHA:542306 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
EEG abnormality, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Ataxia, Optic atrophy, Abnormal auditory evoked pot... |
OMIM:125250 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
| Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Bradycardia |
OMIM:609924 |
| Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impa... |
OMIM:153670 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Hearing impairment |
OMIM:616277 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Abnormal ... |
ORPHA:330001 |
| Pendred Syndrome |
|
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... |
ORPHA:705 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Sensorineural... |
ORPHA:52368 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... |
ORPHA:1215 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Cln3 Disease |
|
T-wave inversion, Vacuolated lymphocytes, Optic atrophy, Bradycardia |
ORPHA:228346 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Low-set ears, Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
EEG with burst suppression, Abnormal autonomic nervous system physiology, Optic atrophy, Bradycardia |
OMIM:614498 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent antihelix, Macrotia, Bradycardia, Atrioventricular block |
OMIM:614407 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Normochromic anemia, Bradycardia, Hypertrophic cardiom... |
OMIM:618775 |
| Tetanus |
|
Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Bradycardia, Autonomic b... |
ORPHA:3299 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Bradycardia |
OMIM:614702 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... |
ORPHA:101085 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Progressive hearing impairment, Bradycardia |
OMIM:609286 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
| Acitretin/Etretinate Embryopathy |
|
Cupped ear, Microtia, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia,... |
ORPHA:40366 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Decreased platelet gl... |
ORPHA:274 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... |
OMIM:619260 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, EEG w... |
OMIM:261740 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
| Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Glutamine Deficiency, Congenital |
|
Bradycardia, Low-set ears |
OMIM:610015 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Bradycardia |
ORPHA:565624 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Abnormal auditory evoked pot... |
ORPHA:99027 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Bradycardia, Thrombocytopenia |
OMIM:617397 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Jaw claudication, Abnormal glossopharyngeal nerve morphology, Syncope,... |
ORPHA:221098 |
| Familial Thyroid Dyshormonogenesis |
|
Sensorineural hearing impairment, Bradycardia |
ORPHA:95716 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
| D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Bradycardia, Hypsarrhythmia |
OMIM:220120 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia |
OMIM:616881 |
| Takenouchi-Kosaki Syndrome |
|
Posteriorly rotated ears, Increased mean platelet volume, Sensorineural hearing impairment, Optic... |
OMIM:616737 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... |
OMIM:609136 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Sepsis In Premature Infants |
|
Tachycardia, Splenomegaly, Leukocytosis, Anemia, Bradycardia, Hypotension, Neutropenia, Thrombocy... |
ORPHA:90051 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Posteriorly rotated ears, Giant platelets, Anemia, Microtia, Low-set ears, Conductive hearing imp... |
OMIM:611209 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Hypertensive crisis, Pulmonary embolism, Leukocytosis, Hypertension, Bradycardia, Hy... |
ORPHA:94093 |
| Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Sensorineural hearing impairment |
OMIM:221400 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia, Hypsarrhythmia |
OMIM:610768 |
| Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... |
OMIM:187900 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Ataxia, Impaired tac... |
ORPHA:206448 |
| 7Q31 Microdeletion Syndrome |
|
Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlarged cochlear ... |
ORPHA:251061 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... |
ORPHA:3240 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia |
OMIM:613327 |
| Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Leukocytosis, Subconjunctival hemorrhage, Leukopenia, Bradycardia, Hypotensio... |
ORPHA:319213 |
| Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
| Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
| Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thr... |
OMIM:603585 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Tachycardia, Congestive heart failure |
ORPHA:90037 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Internal hemorrhage, Neutrop... |
ORPHA:99827 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Increased mean platelet volume, Splenomegaly, Microtia, Pulmonic stenosis, ... |
OMIM:222470 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Apert Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... |
ORPHA:87 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia, Low-set ears |
OMIM:614653 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... |
ORPHA:206436 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Sensorineural hearing impairment, Normochromic anemia, Palpitations, Bra... |
ORPHA:91355 |
| Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Pulsatile tinnitus, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thr... |
ORPHA:84064 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
| Marburg Hemorrhagic Fever |
|
Shock, Lymphopenia, Reticulocytosis, Tachycardia, Pericarditis, Neutrophilia in presence of infec... |
ORPHA:99826 |
| Proximal Spinal Muscular Atrophy |
|
Facial diplegia, Bradycardia |
ORPHA:70 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Increased mean platelet volume, Optic atrophy, Thrombocytopeni... |
ORPHA:487796 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Cryptorchidism, Optic atrophy, Macrotia, Abnormality... |
ORPHA:90321 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Pulsatile tinnitus, Palpitations, Conductive hearing impairment, Hypertension associ... |
OMIM:168000 |
| Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
| Yellow Fever |
|
Shock, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, Capillary leak, Redu... |
ORPHA:99829 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Hypsarrhythmia, Sinus bradycardia |
OMIM:618397 |
| Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evo... |
ORPHA:909 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
| Distal Deletion 10Q |
|
Ataxia, Congenital sensorineural hearing impairment, Cochlear malformation, Protruding ear, Facia... |
ORPHA:96148 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... |
ORPHA:79330 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Sensorineural hearing impairment, Bradycardia, Neutropenia |
OMIM:617248 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia |
ORPHA:90674 |
| Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Optic atrophy, Bradycardia |
ORPHA:97297 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decre... |
OMIM:216400 |
| Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Cryptorchidism, Sensorineur... |
ORPHA:648 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:133540 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Bradycardia |
ORPHA:226307 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Abnormal pinna morphology, Bradycardia, Low-set ears |
OMIM:614437 |
| Charge Syndrome |
|
Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, External ear malformation, C... |
ORPHA:138 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Bradycardia, Anemia |
ORPHA:79404 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears, Cryptorchidism |
ORPHA:401973 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Pulsatile tinnitus, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
| Charge Syndrome |
|
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Cryptorchidism, Sensor... |
OMIM:214800 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
| Nephroblastoma |
|
Hypertension |
ORPHA:654 |
| Wilms Tumor 6 |
|
|
OMIM:616806 |
| Hereditary Gingival Fibromatosis |
|
|
ORPHA:2024 |
| Fibromatosis, Gingival, 5 |
|
|
OMIM:617626 |
