Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... |
OMIM:113900 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Dilated c... |
OMIM:613694 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
Sinoatrial Node Dysfunction And Deafness |
|
Syncope, Abnormal QRS complex, Increased heart rate variability, Bradycardia, Hearing impairment |
OMIM:614896 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Increased left ven... |
OMIM:613697 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... |
OMIM:601493 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... |
OMIM:613838 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral regu... |
OMIM:616648 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Congenital sensorineura... |
OMIM:220400 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... |
OMIM:612098 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... |
OMIM:613507 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... |
OMIM:115195 |
Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Fatigable weakness of skeletal muscles, Right bundle branch block, Left ventricular systolic dysf... |
ORPHA:206559 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
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 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... |
OMIM:615344 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At... |
OMIM:224700 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Dilated cardiomyopathy... |
OMIM:181350 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Abnormal T-wave, Torsade de pointes, Abnormal autonomic nervous system phys... |
ORPHA:101016 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Brugada Syndrome 7 |
|
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... |
OMIM:255160 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Right bundle branch block, T-wave inversion, Ventricular tachycardia, Palpitations, Arrhythmia, S... |
ORPHA:263297 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Tran... |
OMIM:115197 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... |
ORPHA:300751 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... |
ORPHA:99103 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block |
OMIM:300695 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Abcd Syndrome |
|
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... |
OMIM:600501 |
Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... |
ORPHA:563 |
Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Right bundle branch block, Third heart so... |
ORPHA:99106 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi... |
OMIM:601214 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... |
ORPHA:1215 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation |
OMIM:615378 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... |
ORPHA:439 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... |
ORPHA:75565 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... |
ORPHA:1329 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Transient ischemic attack, Left-to-right ... |
ORPHA:99104 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Right bundle branch block, Cerebral ischemia, Congestive heart failure, Arr... |
ORPHA:1880 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bilateral facial palsy, Right bundle branch block |
ORPHA:254361 |
Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:201050 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block |
OMIM:616479 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:615935 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block |
ORPHA:589821 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment |
OMIM:619260 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Left bundle branch block, Ventricular bigeminy, Facial palsy |
OMIM:610131 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Optic atrophy, Wolff-Parkinson-White syn... |
ORPHA:137675 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Mitral regurgitation, Right bundle branch block, Optic atrophy, Tricuspid regurgitation |
OMIM:619576 |
Myotonic Dystrophy 2 |
|
Premature ventricular contraction, Right bundle branch block, Palpitations, Tachycardia |
OMIM:602668 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Heart murmur, Hypertension, Abnormal left ventricular function, Left anterior fascicular block, A... |
ORPHA:437572 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Noonan Syndrome With Multiple Lentigines |
|
Sensorineural hearing impairment, Bundle branch block, Hypertrophic cardiomyopathy, Myocardial in... |
ORPHA:500 |
Juvenile Dermatomyositis |
|
Mucosal telangiectasiae, Bundle branch block, Telangiectasia of the skin, Vasculitis, Angina pect... |
ORPHA:93672 |
Scorpion Envenomation |
|
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... |
ORPHA:466677 |
Fabry Disease |
|
Sensorineural hearing impairment, Mucosal telangiectasiae, Optic atrophy, Transient ischemic atta... |
ORPHA:324 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Brachial plexus neuropathy, Reduced left ventricular ejection fraction... |
ORPHA:268 |
Infantile Krabbe Disease |
|
Optic atrophy, Abnormal heart rate variability, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206436 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Low-set ears, Right bundle branch block, Posteriorly rotated ears, Optic atrophy |
OMIM:618590 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
ORPHA:101085 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Aortic Arch Interruption |
|
Systolic heart murmur, Left ventricular outflow tract obstruction, Right bundle branch block, Blo... |
ORPHA:2299 |
Leopard Syndrome 1 |
|
Third degree atrioventricular block, Sensorineural hearing impairment, Bundle branch block, Hyper... |
OMIM:151100 |
Cockayne Syndrome Type 1 |
|
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... |
ORPHA:90321 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Pulmonary insufficiency |
OMIM:619322 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Pulmonary arterial hypertension, Retinal hemorrhage, Myocarditis, Hemothorax, Hemope... |
ORPHA:99827 |
Eisenmenger Syndrome |
|
Pulmonary arterial hypertension, Supraventricular tachycardia, Right bundle branch block, Heart m... |
ORPHA:97214 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Right bundle branch block, Pulmonic stenosis, Optic nerve hypoplasia, Mitral regurgitation, Overf... |
OMIM:617506 |
Trisomy 10P |
|
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... |
ORPHA:171929 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach... |
ORPHA:216694 |
Nestor-Guillermo Progeria Syndrome |
|
Pulmonary arterial hypertension, Right bundle branch block, Sinus tachycardia, Hypertension, Mitr... |
OMIM:614008 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Hypertensio... |
OMIM:133540 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Hypertensio... |
OMIM:216400 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... |
ORPHA:909 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Prolonged QT interval, Low-set, posteriorly rotated ears, Abnormal helix mor... |
ORPHA:373 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Low-set ears, Right bundle branch block, Tricuspid regurgitation |
OMIM:617402 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Macrotia, Right bundle branch block, Congestive heart failure, Hypertrophic cardiomyopathy, Low-s... |
OMIM:617403 |
Multiple Endocrine Neoplasia Type 4 |
|
Extrahepatic cholestasis, Increased circulating cortisol level, Abnormality of pancreas physiolog... |
ORPHA:276152 |
Mend Syndrome |
|
Aortic valve stenosis, Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |