| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability |
OMIM:614896 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... |
OMIM:617280 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia |
OMIM:611938 |
| Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| His Bundle Tachycardia |
|
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy |
ORPHA:3283 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... |
OMIM:611818 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans |
OMIM:618782 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
| Familial Short Qt Syndrome |
|
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
| Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... |
OMIM:609621 |
| Long Qt Syndrome 5 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... |
OMIM:613695 |
| Long Qt Syndrome 15 |
|
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... |
OMIM:616249 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... |
OMIM:140400 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation |
OMIM:600919 |
| Microhydranencephaly, X-Linked |
|
Holoprosencephaly, Intrauterine growth retardation |
OMIM:306990 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Sick Sinus Syndrome 1 |
|
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... |
OMIM:608567 |
| Long Qt Syndrome 8 |
|
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... |
OMIM:618447 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... |
OMIM:612240 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
| Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... |
OMIM:619464 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial... |
OMIM:616201 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... |
OMIM:602086 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... |
OMIM:602087 |
| Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... |
ORPHA:1344 |
| Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
| Sudden Cardiac Failure, Infantile |
|
Myocarditis, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Bradyca... |
OMIM:617222 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Permanent atrial fibrill... |
OMIM:614022 |
| Atrial Fibrillation, Familial, 9 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... |
OMIM:613980 |
| Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
| Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression |
OMIM:608220 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... |
OMIM:614021 |
| Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... |
OMIM:614049 |
| Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Syncope, Palpitations, Sudden cardiac death, Ventricular arrhyt... |
OMIM:610476 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... |
ORPHA:168796 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... |
OMIM:604772 |
| Long Qt Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613688 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
| Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia |
OMIM:609909 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic dia... |
OMIM:612124 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Thi... |
OMIM:601419 |
| Sick Sinus Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... |
OMIM:163800 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Sudden cardiac death, Premature ventricular con... |
OMIM:614916 |
| Ventricular Tachycardia, Familial |
|
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Long Qt Syndrome 6 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613693 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Romano-Ward Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... |
ORPHA:101016 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
| Brugada Syndrome 1 |
|
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... |
OMIM:601144 |
| Vissers-Bodmer Syndrome |
|
Holoprosencephaly, Short stature, Intrauterine growth retardation |
OMIM:619033 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, Ho... |
OMIM:609637 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... |
OMIM:611528 |
| Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractions, Permanent atrial fib... |
OMIM:611493 |
| Cardiomyopathy, Dilated, 1G |
|
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... |
OMIM:604145 |
| Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... |
OMIM:194200 |
| Brugada Syndrome 9 |
|
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope |
OMIM:616399 |
| Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Sudden cardiac death, Congestive heart failure, Sinus... |
OMIM:601494 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
| Cardiomyopathy, Dilated, 1O |
|
Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car... |
OMIM:608569 |
| Long Qt Syndrome 10 |
|
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... |
OMIM:611819 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval |
OMIM:220400 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... |
OMIM:615441 |
| Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
| Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
| Atrial Fibrillation, Familial, 3 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... |
OMIM:607554 |
| Long Qt Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... |
OMIM:192500 |
| Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Hydrocephalus, Hydranencephaly |
OMIM:617967 |
| Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
| Atrial Standstill 1 |
|
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... |
OMIM:108770 |
| Long Qt Syndrome 14 |
|
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... |
OMIM:616247 |
| Lambert Syndrome |
|
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:1296 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... |
OMIM:615745 |
| Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
| Short Qt Syndrome 1 |
|
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... |
OMIM:609620 |
| Long Qt Syndrome 11 |
|
Prolonged QTc interval, Syncope |
OMIM:611820 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
| Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... |
OMIM:611875 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Familial Progressive Cardiac Conduction Defect |
|
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure |
ORPHA:871 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ... |
OMIM:600884 |
| Long Qt Syndrome 3 |
|
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... |
OMIM:603830 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... |
OMIM:618920 |
| Long Qt Syndrome 12 |
|
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation |
OMIM:612955 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Left ventricular noncompaction cardiomyopath... |
OMIM:115000 |
| Cardiomyopathy, Dilated, 2F |
|
Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa... |
OMIM:619747 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Ventricular tachycardia, Left ventricular outflow tract obstruction, Severely reduced left ventri... |
OMIM:613251 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... |
OMIM:610193 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri... |
OMIM:607450 |
| Brugada Syndrome 7 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... |
OMIM:613120 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure |
OMIM:192600 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616276 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia, Ventricular escape rhythm |
ORPHA:542306 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation |
OMIM:620231 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:618815 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... |
ORPHA:66529 |
| Cardiomyopathy, Dilated, 2G |
|
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... |
OMIM:619897 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Premature ventricular contraction, Sudden cardiac death |
OMIM:604401 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Bradycardia, Hypertrophic cardiomyopathy |
OMIM:616277 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Palpitations, Supraventricular tachycardi... |
OMIM:608758 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
| Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... |
ORPHA:45452 |
| Cardiomyopathy, Dilated, 1Ii |
|
Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejection fract... |
OMIM:615184 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly |
OMIM:611638 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Cardiomyopathy, Arrhythmia |
OMIM:300376 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Congestive heart failure |
OMIM:619048 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... |
OMIM:609040 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Left bundle branch block, First degree atrioventricular block |
OMIM:615616 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Left bundle branch block, Congestive heart failure, Increased left ventricu... |
OMIM:601493 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Premature ventricular contraction, Ventricular fibrillation, Sudden cardiac death |
OMIM:612956 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Developmental And Epileptic Encephalopathy 101 |
|
Bradycardia, Third degree atrioventricular block |
OMIM:619814 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Holoprosencephaly, Intrauterine growth retardation, Hydranencephaly |
ORPHA:2570 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Syncope, Palpitations, A... |
OMIM:612098 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Palpitations, Sudden cardiac death, R... |
OMIM:608751 |
| Brugada Syndrome 2 |
|
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... |
OMIM:611777 |
| Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
| Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly, Intrauterine growth retardation |
ORPHA:2117 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Premature ventricular contr... |
OMIM:212138 |
| Lipoyltransferase 1 Deficiency |
|
Bradycardia, Pulmonary arterial hypertension |
OMIM:616299 |
| Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment |
ORPHA:1055 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Arrhythmia, Myocardial infarction, Congestive heart failure, Orthostatic hypotensio... |
ORPHA:330001 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Ventricular fibrillation, Paroxysmal ventricular tachycardia, T-wave invers... |
OMIM:613507 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... |
OMIM:108950 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine gro... |
ORPHA:1908 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pr... |
OMIM:601005 |
| Distal Deletion 13Q |
|
Encephalocele, Holoprosencephaly, Short stature, Anencephaly |
ORPHA:1590 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... |
ORPHA:99105 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus |
ORPHA:2182 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Palpitations, Angina pectoris, Hypertrophic cardiomyopathy, Atrial fibri... |
OMIM:613873 |
| Verheij Syndrome |
|
Ventricular septal defect, Short neck, Intrauterine growth retardation, Branchial cyst, Truncus a... |
OMIM:615583 |
| Holoprosencephaly 11 |
|
Holoprosencephaly |
OMIM:614226 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
| Lambotte Syndrome |
|
Semilobar holoprosencephaly, Intrauterine growth retardation |
OMIM:245552 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval |
OMIM:615378 |
| Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Holoprosencephaly, Short stature, Hydrocephalus |
ORPHA:93274 |
| Jervell And Lange-Nielsen Syndrome |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Arrhythmia, Ventricular fibrillation |
ORPHA:90647 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
| Brugada Syndrome 4 |
|
Syncope, Atrial fibrillation, Shortened QT interval |
OMIM:611876 |
| Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Bradycardia, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Distal Monosomy 7Q36 |
|
Holoprosencephaly, Short stature |
ORPHA:1636 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... |
ORPHA:300751 |
| Ring Chromosome 21 Syndrome |
|
Holoprosencephaly, Short stature |
ORPHA:1445 |
| Cardiomyopathy, Dilated, 1Oo |
|
Reduced left ventricular ejection fraction, Second degree atrioventricular block, Premature ventr... |
OMIM:620247 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| X-Linked Mandibulofacial Dysostosis |
|
Branchial anomaly, Webbed neck, Abnormal mitral valve morphology, Pulmonic stenosis |
ORPHA:1131 |
| Cardiomyopathy, Dilated, 1Y |
|
Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con... |
OMIM:611878 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment depression, ... |
OMIM:261740 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Bradycardia, Arrhythmia, Cardiomyopathy |
OMIM:609286 |
| Cln3 Disease |
|
Bradycardia, T-wave inversion |
ORPHA:228346 |
| Familial Dilated Cardiomyopathy |
|
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... |
ORPHA:217607 |
| Triploidy |
|
Meningocele, Holoprosencephaly, Intrauterine growth retardation, Hydrocephalus |
ORPHA:3376 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia |
OMIM:616812 |
| Tetanus |
|
Bradycardia, Hypertension, Tachycardia |
ORPHA:3299 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Supravalvular ... |
ORPHA:439232 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Semilobar holoprosencephaly |
OMIM:601370 |
| Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Monosomy 18P |
|
Holoprosencephaly, Short stature |
ORPHA:1598 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... |
ORPHA:216694 |
| 1Q41Q42 Microdeletion Syndrome |
|
Holoprosencephaly, Short stature, Growth delay |
ORPHA:250999 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly |
OMIM:615433 |
| Ebstein Anomaly |
|
Right bundle branch block, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, At... |
OMIM:224700 |
| Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
| Arrhythmogenic right ventricular dysplasia, familial, 2 |
|
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia |
OMIM:600996 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Bradycardia, Pulmonary arterial hypertension |
OMIM:619272 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Acitretin/Etretinate Embryopathy |
|
Bradycardia, Third degree atrioventricular block |
ORPHA:40366 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Growth delay, Holoprosencephaly, Hydrocephalus |
ORPHA:77298 |
| Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy |
OMIM:618775 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Holoprosencephaly, Short stature |
ORPHA:2163 |
| Glossopharyngeal Neuralgia |
|
Bradycardia, Jaw claudication, Syncope |
ORPHA:221098 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Cystic hygroma, Ventricular septal defect, Atrial septal defect, A... |
ORPHA:453499 |
| Pseudo-Torch Syndrome 2 |
|
Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
| Branchiogenic Deafness Syndrome |
|
Branchial fistula, Branchial cyst |
ORPHA:50815 |
| Necrotizing Enterocolitis |
|
Bradycardia, Shock, Hypotension |
ORPHA:391673 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
| Solitary Median Maxillary Central Incisor |
|
Holoprosencephaly, Short stature |
OMIM:147250 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly |
ORPHA:2165 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... |
ORPHA:2041 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Holoprosencephaly, Semilobar holoprosencephaly, Intrauterine growth retardation |
ORPHA:556955 |
| Agnathia-Otocephaly Complex |
|
Holoprosencephaly |
OMIM:202650 |
| 49,Xxxxy Syndrome |
|
Arrhinencephaly, Holoprosencephaly, Short stature |
ORPHA:96264 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Pulmonary arterial hypertension, Abnormal T-wave, Mitral regurgitation, Ventricular ... |
ORPHA:563 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Bradycardia, Prolonged QT interval, Atrial fibrillation, Tachycardia |
OMIM:613327 |
| D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
| Microform Holoprosencephaly |
|
Holoprosencephaly, Short stature, Intrauterine growth retardation |
ORPHA:280200 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Holoprosencephaly, Short stature |
OMIM:612530 |
| Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Holoprosencephaly |
ORPHA:990 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia |
ORPHA:565624 |
| Iniencephaly |
|
Encephalocele, Spinal dysraphism, Myelomeningocele, Spina bifida, Hydrocephalus, Rhizomelia, Holo... |
ORPHA:63259 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Intrauterine growth retardation, Holoprosencephaly, Neonatal death, Anencephaly |
OMIM:269860 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Holoprosencephaly, Hydrocephalus |
OMIM:253800 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Holoprosencephaly, Hydrocephalus |
OMIM:264480 |
| Holoprosencephaly |
|
Encephalocele, Spinal dysraphism, Cyclopia, Abnormal pulmonary valve morphology, Iris coloboma, S... |
ORPHA:2162 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bradycardia, Hypertension, Tachycardia, Retinal hemorrhage |
OMIM:614653 |
| Trisomy 18 |
|
Spina bifida, Holoprosencephaly, Intrauterine growth retardation, Short stature, Anencephaly, Gro... |
ORPHA:3380 |
| Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
| Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
| Oligomeganephronia |
|
Optic disc coloboma, Secundum atrial septal defect, Branchial cyst |
ORPHA:2260 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... |
OMIM:171420 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
| Acquired Methemoglobinemia |
|
Syncope, Palpitations, Tachycardia, Arrhythmia |
ORPHA:464453 |
| Holoprosencephaly 4 |
|
Semilobar holoprosencephaly |
OMIM:142946 |
| 16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly, Short stature |
ORPHA:261236 |
| Halperin-Birk Syndrome |
|
Umbilical hernia, Semilobar holoprosencephaly, Intrauterine growth retardation |
OMIM:618651 |
| Sepsis In Premature Infants |
|
Bradycardia, Tachycardia, Hypotension |
ORPHA:90051 |
| Arachnoid Cyst |
|
Encephalocele, Holoprosencephaly, Hydrocephalus |
ORPHA:2356 |
| Holoprosencephaly 7 |
|
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, Ho... |
OMIM:610828 |
| Branchiootorenal Syndrome 1 |
|
Branchial fistula, Branchial cyst |
OMIM:113650 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Holoprosencephaly |
OMIM:619879 |
| Neuroleptic Malignant Syndrome |
|
Hypotension, Arrhythmia, Hypertension, Pulmonary embolism, Bradycardia, Tachycardia, Hypertensive... |
ORPHA:94093 |
| Pallister-Hall Syndrome |
|
Holoprosencephaly, Short stature, Intrauterine growth retardation, Neonatal death |
OMIM:146510 |
| Paragangliomas 3 |
|
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Lobar holoprosencephaly, Semilobar holoprosencephaly, Intrauterine growth retardation, Neonatal d... |
OMIM:618500 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Hypotension, Subconjunctival hemorrhage, Shock, Bradycardia |
ORPHA:319213 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Lobar holoprosencephaly, Short stature |
OMIM:614701 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Pulmona... |
ORPHA:1329 |
| Proximal Spinal Muscular Atrophy |
|
Bradycardia |
ORPHA:70 |
| Holoprosencephaly 14 |
|
Holoprosencephaly, Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus |
OMIM:619895 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Increased nuchal translucency, Cystic hygroma, Ventricular septal defect, Atrial septal defect, A... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Increased nuchal translucency, Cystic hygroma, Ventricular septal defect, Atrial septal defect, A... |
ORPHA:352665 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Umbilical hernia, Holoprosencephaly, Hydrocephalus |
ORPHA:2166 |
| Jacobsen Syndrome |
|
Holoprosencephaly, Intrauterine growth retardation, Hydrocephalus |
OMIM:147791 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Mitral regurgitation, Reduced left vent... |
OMIM:613426 |
| Endocrine-Cerebroosteodysplasia |
|
Holoprosencephaly, Hydrocephalus |
OMIM:612651 |
| Sheehan Syndrome |
|
Bradycardia, Palpitations, Orthostatic hypotension |
ORPHA:91355 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Pulmonary arterial hypertension, Diffuse alveolar hemorrhage, Hypotension, Subdural ... |
ORPHA:99827 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Holoprosencephaly, Short stature, Intrauterine growth retardation, Growth delay |
ORPHA:1052 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Ventricular septal defect, Hydrocephalus, Tricuspid valve prolapse, Low posterior hairline, Branc... |
ORPHA:261337 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
| Monosomy 13Q14 |
|
Holoprosencephaly, Short stature, Intrauterine growth retardation |
ORPHA:1587 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Branchial fistula, Intrauterine growth retardati... |
ORPHA:261330 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia |
ORPHA:90674 |
| Hartsfield Syndrome |
|
Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, Growth delay |
OMIM:615465 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Smith-Lemli-Opitz Syndrome |
|
Rhizomelia, Holoprosencephaly, Short stature, Intrauterine growth retardation, Growth delay |
ORPHA:818 |
| Paragangliomas 1 |
|
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| Isolated Exencephaly |
|
Holoprosencephaly |
ORPHA:563612 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
| Holoprosencephaly 3 |
|
Holoprosencephaly |
OMIM:142945 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology |
ORPHA:99947 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Iris coloboma, Atrial septal defect, Intrauterine growth retardation, Right ventricular hypertrop... |
OMIM:620186 |
| Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Holoprosencephaly, Short stature, Intrauterine growth retardation, Growth delay |
OMIM:270400 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Capillary leak, Subconjunctival hemorrhage, Shock, Hypovolemia, Internal hemorrhage,... |
ORPHA:99826 |
| Yellow Fever |
|
Reduced left ventricular ejection fraction, Capillary leak, Supraventricular arrhythmia, Hemateme... |
ORPHA:99829 |
| Steinfeld Syndrome |
|
Holoprosencephaly |
OMIM:184705 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Lobar holoprosencephaly, Intrauterine growth retardation, Severe short stature |
ORPHA:468631 |
| Chromosome 13Q14 Deletion Syndrome |
|
Umbilical hernia, Holoprosencephaly, Growth delay |
OMIM:613884 |
| Charge Syndrome |
|
Delayed puberty, Aqueductal stenosis, Holoprosencephaly, Intrauterine growth retardation, Short s... |
ORPHA:138 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
| Pheochromocytoma |
|
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... |
OMIM:171300 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
| Holoprosencephaly 9 |
|
Holoprosencephaly, Short stature, Hydrocephalus |
OMIM:610829 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Iris coloboma |
ORPHA:861 |
| Ring Chromosome 7 Syndrome |
|
Holoprosencephaly, Short stature, Severe intrauterine growth retardation |
ORPHA:1449 |
| Bohring-Opitz Syndrome |
|
Bradycardia |
ORPHA:97297 |
| Histiocytoid Cardiomyopathy |
|
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Supraventricu... |
ORPHA:137675 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Bradycardia, Pulmonary insufficiency |
OMIM:614437 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
| 8Q24.3 Microdeletion Syndrome |
|
Short neck, Dysplastic aortic valve, Atrioventricular canal defect, Ventricular septal defect, In... |
ORPHA:508488 |
| Meckel Syndrome |
|
Encephalocele, Lobar holoprosencephaly, Hydrocephalus, Anencephaly |
ORPHA:564 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly |
ORPHA:3186 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Semilobar holoprosencephaly, Intrauterine growth retardation, Growth delay |
OMIM:301044 |
| Holoprosencephaly 13, X-Linked |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly |
OMIM:301043 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Holoprosencephaly |
OMIM:618820 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Bradycardia |
ORPHA:226307 |
| Holoprosencephaly 2 |
|
Holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly |
OMIM:157170 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Bradycardia, Dilated cardiomyopathy |
ORPHA:79404 |
| Pallister-Hall Syndrome |
|
Umbilical hernia, Holoprosencephaly, Short stature, Intrauterine growth retardation, Arrhinencephaly |
ORPHA:672 |
| Paragangliomas 4 |
|
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Delayed puberty, Holoprosencephaly, Pituitary dwarfism, Growth delay |
ORPHA:95494 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Holoprosencephaly |
OMIM:615948 |
| Branchiooculofacial Syndrome |
|
Iris coloboma, Short neck, Low posterior hairline, Intrauterine growth retardation, Branchial ano... |
OMIM:113620 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Short stature, Ethmocephaly |
OMIM:236100 |
| Proboscis Lateralis |
|
Holoprosencephaly |
ORPHA:141099 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
| Charge Syndrome |
|
Delayed puberty, Umbilical hernia, Holoprosencephaly, Arrhinencephaly, Postnatal growth retardation |
OMIM:214800 |
| Townes-Brocks Syndrome 1 |
|
Umbilical hernia, Holoprosencephaly, Hydrocephalus |
OMIM:107480 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Semilobar holoprosencephaly |
OMIM:129900 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Intrauterine growth retardation, Iris coloboma |
OMIM:613406 |
| Craniofacial Microsomia |
|
Tetralogy of Fallot, Hydrocephalus, Ventricular septal defect, Occipital encephalocele, Branchial... |
OMIM:164210 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Abnormal spinal cord morphology, Myelopathy |
ORPHA:139396 |
| Adrenomyeloneuropathy |
|
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
| Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
| Limb Body Wall Complex |
|
Encephalocele, Short umbilical cord, Myelomeningocele, Spina bifida, Anencephaly, Spina bifida oc... |
ORPHA:2369 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology |
ORPHA:68 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Short stature, Hydrocephalus |
OMIM:241800 |
| Mosaic Trisomy 20 |
|
Abnormal spinal cord morphology |
ORPHA:1724 |
| Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:289390 |
| Tetrasomy 9P |
|
Umbilical hernia, Abnormal spinal cord morphology |
ORPHA:3310 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Iris coloboma, Lipomyelomeningocele |
OMIM:601707 |
| Curry-Jones Syndrome |
|
Optic disc coloboma, Iris coloboma |
ORPHA:1553 |
| Meningioma |
|
Hydrocephalus |
ORPHA:2495 |
| Hirschsprung Disease |
|
Short stature |
ORPHA:388 |
| Basal Cell Carcinoma, Susceptibility To, 1 |
|
|
OMIM:605462 |
