| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia |
OMIM:618782 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
| Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... |
OMIM:616249 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
| Microhydranencephaly, X-Linked |
|
Intrauterine growth retardation, Holoprosencephaly |
OMIM:306990 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death |
OMIM:107970 |
| Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
| Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Cardiomyopathy, Dilated, 2I |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... |
OMIM:616201 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
| Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
| Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... |
OMIM:613980 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression |
OMIM:608220 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... |
OMIM:614049 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
| Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
| Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... |
ORPHA:101016 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter |
OMIM:615770 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... |
OMIM:610476 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... |
ORPHA:3286 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
| Long Qt Syndrome 2 |
|
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... |
OMIM:613688 |
| Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... |
OMIM:612124 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... |
OMIM:163800 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... |
OMIM:614916 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... |
OMIM:613693 |
| Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Syntelencephaly, Hydrocephalus, Holoprosen... |
OMIM:609637 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Vissers-Bodmer Syndrome |
|
Short stature, Intrauterine growth retardation, Holoprosencephaly |
OMIM:619033 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... |
OMIM:611493 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
| Brugada Syndrome 1 |
|
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... |
OMIM:601144 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... |
OMIM:601494 |
| Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
| Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
| Long Qt Syndrome 10 |
|
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... |
OMIM:611819 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval |
OMIM:220400 |
| Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... |
OMIM:615441 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... |
OMIM:607554 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
| Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
| Tako-Tsubo Cardiomyopathy |
|
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... |
ORPHA:66529 |
| Long Qt Syndrome 14 |
|
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... |
OMIM:616247 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
| Long Qt Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... |
OMIM:192500 |
| Short Qt Syndrome 1 |
|
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... |
OMIM:609620 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... |
OMIM:615373 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... |
OMIM:615745 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Holoprosencephaly, Hydrocephalus |
OMIM:617967 |
| Familial Progressive Cardiac Conduction Defect |
|
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block |
ORPHA:871 |
| Brugada Syndrome 3 |
|
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... |
OMIM:611875 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... |
OMIM:600884 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... |
OMIM:603830 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... |
OMIM:115000 |
| Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... |
OMIM:613838 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... |
OMIM:612347 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
| Brugada Syndrome 7 |
|
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... |
OMIM:613120 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure |
OMIM:192600 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... |
OMIM:614954 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval |
ORPHA:542306 |
| Short Qt Syndrome 7 |
|
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death |
OMIM:620231 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia |
OMIM:618235 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... |
ORPHA:45452 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
| Microphthalmia/Coloboma 5 |
|
Holoprosencephaly |
OMIM:611638 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Muscular Dystrophy, Becker Type |
|
Arrhythmia, Cardiomyopathy, Abnormal EKG |
OMIM:300376 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... |
OMIM:601493 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia |
OMIM:619048 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation |
OMIM:612956 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... |
OMIM:609040 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... |
ORPHA:3193 |
| Hartsfield Syndrome |
|
Intrauterine growth retardation, Encephalocele, Lobar holoprosencephaly |
ORPHA:2117 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Spinal cord compression |
OMIM:602475 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... |
OMIM:608751 |
| Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
| Brugada Syndrome 2 |
|
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Intrauterine growth retardation, Hydranencephaly, Holoprosencephaly |
ORPHA:2570 |
| Glycogen Storage Disease Xv |
|
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... |
OMIM:613507 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... |
OMIM:212138 |
| Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Short stature, ... |
ORPHA:1908 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus |
ORPHA:2182 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
| Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
| Timothy Syndrome |
|
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... |
OMIM:601005 |
| Holoprosencephaly 11 |
|
Holoprosencephaly |
OMIM:614226 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Tachycardia, Syncope |
OMIM:192445 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Verheij Syndrome |
|
Branchial cyst, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus, S... |
OMIM:615583 |
| Lambotte Syndrome |
|
Intrauterine growth retardation, Semilobar holoprosencephaly |
OMIM:245552 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... |
OMIM:613873 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Thanatophoric Dysplasia Type 2 |
|
Short stature, Hydrocephalus, Holoprosencephaly, Encephalocele |
ORPHA:93274 |
| Distal Deletion 13Q |
|
Short stature, Holoprosencephaly, Anencephaly, Encephalocele |
ORPHA:1590 |
| Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
| Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval |
ORPHA:90647 |
| Branchiogenic-Deafness Syndrome |
|
Branchial fistula, Branchial cyst |
OMIM:609166 |
| Brugada Syndrome 4 |
|
Atrial fibrillation, Syncope, Shortened QT interval |
OMIM:611876 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia |
OMIM:614407 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
| Distal Monosomy 7Q36 |
|
Short stature, Holoprosencephaly |
ORPHA:1636 |
| Ring Chromosome 21 Syndrome |
|
Short stature, Holoprosencephaly |
ORPHA:1445 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... |
ORPHA:300751 |
| Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
| X-Linked Mandibulofacial Dysostosis |
|
Webbed neck, Pulmonic stenosis, Branchial anomaly, Abnormal mitral valve morphology |
ORPHA:1131 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... |
OMIM:261740 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:611878 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia |
OMIM:616812 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
| Triploidy |
|
Intrauterine growth retardation, Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:3376 |
| Glycogen Storage Disease Iv |
|
Portal hypertension, Cardiomyopathy, Bradycardia |
OMIM:232500 |
| Tetanus |
|
Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Semilobar holoprosencephaly |
OMIM:601370 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
| Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
| Monosomy 18P |
|
Short stature, Holoprosencephaly |
ORPHA:1598 |
| 1Q41Q42 Microdeletion Syndrome |
|
Short stature, Holoprosencephaly, Growth delay |
ORPHA:250999 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... |
ORPHA:216694 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly |
OMIM:615433 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Ebstein Anomaly |
|
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... |
OMIM:224700 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Holoprosencephaly, Growth delay, Hydrocephalus |
ORPHA:77298 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
| Branchiogenic Deafness Syndrome |
|
Branchial fistula, Branchial cyst |
ORPHA:50815 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa... |
ORPHA:453499 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Short stature, Holoprosencephaly |
ORPHA:2163 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Persistent fetal circulation, Bradycardia |
OMIM:618775 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
| Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Solitary Median Maxillary Central Incisor |
|
Short stature, Holoprosencephaly |
OMIM:147250 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly |
ORPHA:2165 |
| Agnathia-Otocephaly Complex |
|
Holoprosencephaly |
OMIM:202650 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... |
ORPHA:2041 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Intrauterine growth retardation, Holoprosencephaly, Semilobar holoprosencephaly |
ORPHA:556955 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
| Microform Holoprosencephaly |
|
Short stature, Intrauterine growth retardation, Holoprosencephaly |
ORPHA:280200 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia |
OMIM:613327 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Short stature, Holoprosencephaly |
OMIM:612530 |
| Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
| Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
| Necrotizing Enterocolitis |
|
Shock, Hypotension, Bradycardia |
ORPHA:391673 |
| 49,Xxxxy Syndrome |
|
Short stature, Holoprosencephaly |
ORPHA:96264 |
| D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Holoprosencephaly |
ORPHA:990 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hydrocephalus, Holoprosencephaly, Encephalocele |
OMIM:253800 |
| Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holo... |
ORPHA:63259 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia |
ORPHA:565624 |
| Short-Rib Thoracic Dysplasia 12 |
|
Intrauterine growth retardation, Neonatal death, Hydrocephalus, Holoprosencephaly, Anencephaly |
OMIM:269860 |
| Holoprosencephaly |
|
Spinal dysraphism, Chorioretinal coloboma, Tetralogy of Fallot, Branchial anomaly, Encephalocele,... |
ORPHA:2162 |
| Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
| Pseudotrisomy 13 Syndrome |
|
Hydrocephalus, Holoprosencephaly, Encephalocele |
OMIM:264480 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia |
OMIM:614653 |
| Trisomy 18 |
|
Growth delay, Intrauterine growth retardation, Spina bifida, Short stature, Holoprosencephaly, An... |
ORPHA:3380 |
| Acquired Methemoglobinemia |
|
Tachycardia, Arrhythmia, Palpitations, Syncope |
ORPHA:464453 |
| Oligomeganephronia |
|
Secundum atrial septal defect, Branchial cyst, Optic disc coloboma |
ORPHA:2260 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... |
ORPHA:99103 |
| Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
| Holoprosencephaly 4 |
|
Semilobar holoprosencephaly |
OMIM:142946 |
| Halperin-Birk Syndrome |
|
Intrauterine growth retardation, Semilobar holoprosencephaly, Umbilical hernia |
OMIM:618651 |
| 16P13.11 Microdeletion Syndrome |
|
Short stature, Holoprosencephaly |
ORPHA:261236 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... |
OMIM:610828 |
| Arachnoid Cyst |
|
Hydrocephalus, Holoprosencephaly, Encephalocele |
ORPHA:2356 |
| Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
| Branchiootorenal Syndrome 1 |
|
Branchial fistula, Branchial cyst |
OMIM:113650 |
| Meckel Syndrome 14 |
|
Holoprosencephaly, Occipital encephalocele |
OMIM:619879 |
| Pallister-Hall Syndrome |
|
Intrauterine growth retardation, Neonatal death, Short stature, Holoprosencephaly, Growth delay |
OMIM:146510 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... |
ORPHA:94093 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Semilobar holoprosencephaly, Intrauterine growth retardation, Neonatal death, Growth delay, Lobar... |
OMIM:618500 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest |
OMIM:277400 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Short stature, Lobar holoprosencephaly |
OMIM:614701 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage |
ORPHA:319213 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia |
OMIM:261990 |
| Holoprosencephaly 14 |
|
Holoprosencephaly, Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus |
OMIM:619895 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... |
ORPHA:352665 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hydrocephalus, Holoprosencephaly, Encephalocele, Umbilical hernia |
ORPHA:2166 |
| Jacobsen Syndrome |
|
Intrauterine growth retardation, Holoprosencephaly, Hydrocephalus |
OMIM:147791 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... |
ORPHA:1329 |
| Proximal Spinal Muscular Atrophy |
|
Bradycardia |
ORPHA:70 |
| Endocrine-Cerebroosteodysplasia |
|
Holoprosencephaly, Hydrocephalus |
OMIM:612651 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Short stature, Intrauterine growth retardation, Holoprosencephaly, Growth delay |
ORPHA:1052 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... |
OMIM:613426 |
| Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
| Crimean-Congo Hemorrhagic Fever |
|
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... |
ORPHA:99827 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Webbed neck, Branchial fistula, Optic disc coloboma, Ventricular septal defect, Low posterior hai... |
ORPHA:261337 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect... |
ORPHA:261330 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
| Monosomy 13Q14 |
|
Short stature, Intrauterine growth retardation, Holoprosencephaly |
ORPHA:1587 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia |
ORPHA:90674 |
| Hartsfield Syndrome |
|
Alobar holoprosencephaly, Growth delay, Lobar holoprosencephaly, Semilobar holoprosencephaly |
OMIM:615465 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
| Smith-Lemli-Opitz Syndrome |
|
Rhizomelia, Intrauterine growth retardation, Short stature, Holoprosencephaly, Growth delay |
ORPHA:818 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
| Holoprosencephaly 3 |
|
Holoprosencephaly |
OMIM:142945 |
| Isolated Exencephaly |
|
Holoprosencephaly |
ORPHA:563612 |
| Holoprosencephaly 9 |
|
Alobar holoprosencephaly, Hydrocephalus, Short stature, Holoprosencephaly, Occipital meningocele |
OMIM:610829 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology |
ORPHA:99947 |
| Charge Syndrome |
|
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Delayed puberty,... |
ORPHA:138 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Natal tooth, Branchial cyst, Optic disc coloboma, Intrauterine growth retardation, Patent foramen... |
OMIM:620186 |
| Smith-Lemli-Opitz Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Short stature, Holoprosencephaly, Growth delay |
OMIM:270400 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Intrauterine growth retardation, Lobar holoprosencephaly |
ORPHA:468631 |
| Chromosome 13Q14 Deletion Syndrome |
|
Holoprosencephaly, Growth delay, Umbilical hernia |
OMIM:613884 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... |
ORPHA:99826 |
| Steinfeld Syndrome |
|
Holoprosencephaly |
OMIM:184705 |
| Treacher-Collins Syndrome |
|
Iris coloboma, Branchial fistula, Encephalocele |
ORPHA:861 |
| Yellow Fever |
|
Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal hemorrhage,... |
ORPHA:99829 |
| Spinal Arteriovenous Metameric Syndrome |
|
Spinal arteriovenous malformation, Abnormal spinal cord morphology |
ORPHA:53721 |
| Ring Chromosome 7 Syndrome |
|
Short stature, Holoprosencephaly, Severe intrauterine growth retardation |
ORPHA:1449 |
| Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171300 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
| Bohring-Opitz Syndrome |
|
Bradycardia |
ORPHA:97297 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Retinal coloboma, Abnormal heart morphology, Atrioventricular canal defect, Intra... |
ORPHA:508488 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
| Meckel Syndrome |
|
Hydrocephalus, Anencephaly, Encephalocele, Lobar holoprosencephaly |
ORPHA:564 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly |
ORPHA:3186 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Bradycardia |
ORPHA:226307 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Holoprosencephaly |
OMIM:618820 |
| Holoprosencephaly 13, X-Linked |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly |
OMIM:301043 |
| Holoprosencephaly 1 |
|
Short stature, Alobar holoprosencephaly, Ethmocephaly |
OMIM:236100 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Intrauterine growth retardation, Semilobar holoprosencephaly, Growth delay |
OMIM:301044 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Holoprosencephaly, Delayed puberty, Pituitary dwarfism, Growth delay |
ORPHA:95494 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Pulmonary insufficiency, Pulmonary arterial hypertension, Bradycardia |
OMIM:614437 |
| Holoprosencephaly 2 |
|
Holoprosencephaly, Alobar holoprosencephaly, Semilobar holoprosencephaly |
OMIM:157170 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Bradycardia |
ORPHA:79404 |
| Pallister-Hall Syndrome |
|
Short stature, Intrauterine growth retardation, Holoprosencephaly, Umbilical hernia |
ORPHA:672 |
| Orofaciodigital Syndrome Xiv |
|
Holoprosencephaly, Occipital encephalocele |
OMIM:615948 |
| Branchiooculofacial Syndrome |
|
Retinal coloboma, Intrauterine growth retardation, Branchial anomaly, Low posterior hairline, Sho... |
OMIM:113620 |
| Proboscis Lateralis |
|
Holoprosencephaly |
ORPHA:141099 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
| Charge Syndrome |
|
Postnatal growth retardation, Holoprosencephaly, Delayed puberty, Umbilical hernia |
OMIM:214800 |
| Townes-Brocks Syndrome 1 |
|
Holoprosencephaly, Hydrocephalus, Umbilical hernia |
OMIM:107480 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Semilobar holoprosencephaly |
OMIM:129900 |
| Witteveen-Kolk Syndrome |
|
Iris coloboma, Intrauterine growth retardation, Branchial fistula |
OMIM:613406 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, Hydro... |
OMIM:164210 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
| Acute Disseminated Encephalomyelitis |
|
Myelitis, Abnormal spinal cord morphology |
ORPHA:83597 |
| Adrenomyeloneuropathy |
|
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
| Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
| Holt-Oram Syndrome |
|
Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia... |
OMIM:142900 |
| Limb Body Wall Complex |
|
Myelomeningocele, Encephalocele, Short umbilical cord, Spina bifida, Abnormal spinal cord morphol... |
ORPHA:2369 |
| Pallister-Hall-Like Syndrome |
|
Short stature, Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology |
ORPHA:68 |
| Mosaic Trisomy 20 |
|
Abnormal spinal cord morphology |
ORPHA:1724 |
| Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:289390 |
| Tetrasomy 9P |
|
Abnormal spinal cord morphology, Umbilical hernia |
ORPHA:3310 |
| Curry-Jones Syndrome |
|
Iris coloboma, Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
| Curry-Jones Syndrome |
|
Iris coloboma, Optic disc coloboma |
ORPHA:1553 |
| Meningioma |
|
Hydrocephalus |
ORPHA:2495 |
| Hirschsprung Disease |
|
Short stature |
ORPHA:388 |
| Basal Cell Carcinoma, Susceptibility To, 1 |
|
|
OMIM:605462 |
