| Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
| Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| His Bundle Tachycardia |
|
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
| Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
| Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... |
OMIM:616201 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
| Pierre Robin Syndrome |
|
Cor pulmonale, Cleft palate, Pierre-Robin sequence, Glossoptosis |
OMIM:261800 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
| Nathalie Syndrome |
|
Arrhythmia |
ORPHA:2663 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia |
OMIM:606713 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
| Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602087 |
| Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602086 |
| Long-Thumb Brachydactyly Syndrome |
|
Arrhythmia |
OMIM:112430 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
| Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
| Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
| Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
| Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
| Orofacial Cleft 13 |
|
Cleft soft palate, Oligodontia |
OMIM:613857 |
| Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
| Van Der Woude Syndrome 1 |
|
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula |
OMIM:119300 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Atrial Fibrillation, Familial, 4 |
|
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... |
OMIM:611493 |
| Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
| Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
| Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
| Anencephaly 2 |
|
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
| Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
| Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Cleft palate, Tooth agenesis |
ORPHA:1074 |
| Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
| Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... |
OMIM:108770 |
| Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
| Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis |
OMIM:617222 |
| Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition |
OMIM:216300 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Ventricular tachycardia, Syncope, Cardiac arrest |
OMIM:614916 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft upper lip, Cleft palate, Stomach cancer |
OMIM:137215 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Familial Progressive Cardiac Conduction Defect |
|
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia |
ORPHA:871 |
| Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
| Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula |
OMIM:258320 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
| Tako-Tsubo Cardiomyopathy |
|
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... |
ORPHA:66529 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
| Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Cleft palate, Bifid uvula |
OMIM:303400 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy |
OMIM:192600 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... |
OMIM:115000 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
| Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
| Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
| Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
| Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
| Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
| Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula |
OMIM:300850 |
| Holzgreve Syndrome |
|
Cleft upper lip, Hypoplastic left heart, Cleft palate |
OMIM:236110 |
| Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricular... |
OMIM:615373 |
| Cleft Velum |
|
Cleft soft palate, Velopharyngeal insufficiency |
ORPHA:99772 |
| Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
| Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... |
OMIM:163800 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid uvula |
OMIM:256200 |
| Bifid Uvula |
|
Cleft lip, Bifid uvula, Submucous cleft soft palate |
ORPHA:99771 |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency |
OMIM:617732 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
| Auriculocondylar Syndrome 3 |
|
Bifid uvula, Glossoptosis |
OMIM:615706 |
| Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Cleft palate, Bifid uvula |
ORPHA:2521 |
| Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid uvula |
ORPHA:2669 |
| Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
| Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
| Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
| Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
| Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Cleft palate, Short philtrum, Tented upper lip vermilion, Cleft lip, A... |
OMIM:616898 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular arrhythmia |
OMIM:601493 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... |
OMIM:618920 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia |
OMIM:618453 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:300696 |
| Familial Dilated Cardiomyopathy |
|
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... |
ORPHA:217607 |
| Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Cleft palate, Bifid uvula |
OMIM:618768 |
| Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, High, narrow palate, Drooling |
ORPHA:209908 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia |
ORPHA:542306 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
| Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Arrhythmia |
OMIM:310095 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Congestive heart failure |
OMIM:619048 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... |
OMIM:608751 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... |
ORPHA:2919 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Cleft palate, Bifid uvula, Lobulated tongue, Median cleft lip |
OMIM:174300 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Arrhythmia, Cardiomyopathy |
OMIM:614676 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Bifid uvula, Atrial septal defect, Submucous cleft hard palate, Pulmonic stenosis |
OMIM:619239 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Congestive heart failure, Ventricular arrhythmia |
OMIM:613424 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Ectrodactyly-Cleft Palate Syndrome |
|
Cleft palate |
OMIM:129830 |
| Long Qt Syndrome 10 |
|
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... |
OMIM:611819 |
| Arthrogryposis, Distal, Type 1C |
|
Cleft palate, High palate, Thin vermilion border, Bifid uvula, Pursed lips, Cleft lip, Narrow mouth |
OMIM:619110 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
| Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
| Adducted Thumbs Syndrome |
|
Cleft palate, High, narrow palate, Velopharyngeal insufficiency, High palate |
OMIM:201550 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Cleft palate, Bifid uvula |
ORPHA:506353 |
| Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... |
ORPHA:330001 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction |
OMIM:604401 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... |
OMIM:212138 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
| Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
| Cleft Lip/Palate |
|
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Arrhythmia, Cardiomyopathy |
OMIM:612999 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Unilateral cleft lip, Cleft palate, Bifid uvula |
ORPHA:2736 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... |
OMIM:612158 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Arrhythmia, Cardiomyopathy |
OMIM:616198 |
| Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
| Coffin-Siris Syndrome 11 |
|
High palate, Wide mouth, Cleft soft palate, Esophageal atresia, Bifid uvula, Downturned corners o... |
OMIM:618779 |
| Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Smooth philtrum, High palate, Cleft palate, Celiac disease, Long philtrum, Drooling, Bifid uvula,... |
ORPHA:576283 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular septal defect, Cleft palate, Mitral valve prolapse, Cleft upper lip, Ventricular hype... |
OMIM:612561 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation |
ORPHA:90647 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia |
ORPHA:1345 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... |
OMIM:613838 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Atrial fibrillation, Mitral regurgitation, Ventric... |
OMIM:604169 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Cleft palate, Ectopic anus, Non-midline cleft lip, Hypoplastic left heart |
ORPHA:2476 |
| Dystonia 23 |
|
Arrhythmia |
OMIM:614860 |
| Burn-Mckeown Syndrome |
|
Ventricular septal defect, Cleft palate, Short philtrum, Cleft upper lip, Thin vermilion border, ... |
OMIM:608572 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
| Stickler Syndrome, Type Ii |
|
High, narrow palate, Cleft palate, Bifid uvula, Pierre-Robin sequence |
OMIM:604841 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Arrhythmia |
OMIM:300695 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Long philtrum, Cleft soft palate, Gingival overgrowth, Thin upper lip vermilion,... |
OMIM:616331 |
| Glutamine Deficiency, Congenital |
|
Neonatal death, Bradycardia |
OMIM:610015 |
| Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy |
OMIM:613873 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Bundle branch block |
OMIM:615616 |
| Oculofaciocardiodental Syndrome |
|
Abnormal palate morphology, Cleft palate, Mitral valve prolapse, Oligodontia, Long philtrum, Soli... |
ORPHA:2712 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation |
OMIM:615770 |
| Timothy Syndrome |
|
Prolonged QT interval, Bradycardia |
OMIM:601005 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
| Monosodium Glutamate Sensitivity |
|
Palpitations |
OMIM:231630 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:609040 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Bradycardia, Arrhythmia |
OMIM:609286 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Palpitations, Syncope, Sinus bradycardia, Atrioventricular block |
OMIM:616812 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia |
OMIM:614407 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Thick lower lip vermilion, High palate, Supernumerary tooth, Thin vermilion border, Bifid uvula, ... |
OMIM:617412 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Naxos Disease |
|
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... |
ORPHA:34217 |
| Zimmermann-Laband Syndrome 3 |
|
Thick lower lip vermilion, High palate, Gingival overgrowth, Bifid uvula |
OMIM:618658 |
| Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... |
ORPHA:888 |
| Kleefstra Syndrome 2 |
|
Bifid uvula, Everted lower lip vermilion |
OMIM:617768 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension |
OMIM:261740 |
| Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Cardiomyopathy, Absent atrioventricular node |
OMIM:234700 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Cleft palate, Truncus arteriosus, Double outlet right ventricle, Intes... |
ORPHA:3426 |
| Symmetrical Thalamic Calcifications |
|
Arrhythmia |
ORPHA:1314 |
| Temple Syndrome |
|
High palate, Cleft palate, Bifid uvula, Short philtrum |
OMIM:616222 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Smooth philtrum, Esophageal atresia, Atrial septal defect |
OMIM:614526 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Hypodontia, Submucous cleft hard palate, Glossoptosis |
ORPHA:3201 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Cleft palate, Bifid uvula, Dysplastic pulmonary valve |
OMIM:300958 |
| Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Sinus bradycard... |
ORPHA:439232 |
| Tetanus |
|
Hypertension, Bradycardia, Tachycardia |
ORPHA:3299 |
| Buratti-Harel Syndrome |
|
High palate, Velopharyngeal insufficiency, Bifid uvula, Atrial septal defect, Submucous cleft har... |
OMIM:619314 |
| Liddle Syndrome |
|
Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, High palate, Smooth philtrum, Dysplastic tricuspid valve, Right ventricular ... |
OMIM:612863 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:179400 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... |
ORPHA:263297 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Arrhythmia |
OMIM:616516 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
OMIM:236800 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Syncope, Palpitations, Elevated jugular venous pressure, Pulmonary arterial hypertension, Tricusp... |
ORPHA:422 |
| Pai Syndrome |
|
Median cleft lip, Cleft palate, Bifid uvula, Abnormal oral frenulum morphology |
ORPHA:1993 |
| Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... |
OMIM:615344 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... |
ORPHA:216694 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
| Propionic Acidemia |
|
Arrhythmia, Cardiomyopathy |
ORPHA:35 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Congestive heart failure, Wolff-Parkinson-White syndrome, Abnormal left ventricular... |
OMIM:540000 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Dilated cardiomyopathy, Arrhythmia, Sudden cardiac death |
OMIM:181350 |
| Maternally-Inherited Diabetes And Deafness |
|
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure |
ORPHA:225 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Abnormal heart morphology, High, narrow palate, Bifid uvula, Broad philtrum |
ORPHA:2872 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate |
OMIM:609166 |
| Birk-Barel Syndrome |
|
High palate, Short philtrum, Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate |
OMIM:612292 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Arrhythmia |
ORPHA:99944 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
| Loeffler Endocarditis |
|
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... |
ORPHA:75566 |
| Ebstein Anomaly |
|
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... |
OMIM:224700 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Widely spaced teeth, High palate, Wide mouth, Microdontia, Macroglossia, Accessory oral frenulum,... |
OMIM:266920 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... |
ORPHA:99103 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... |
ORPHA:85451 |
| Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Ventricular... |
OMIM:600996 |
| Limb-Mammary Syndrome |
|
Hypodontia, Cleft palate, Bifid uvula |
OMIM:603543 |
| Coronary Arterial Fistula |
|
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... |
ORPHA:2041 |
| Brugada Syndrome 7 |
|
Atrial flutter, ST segment elevation |
OMIM:613120 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Cleft palate, Mitral stenosis, Bifid uvula, Atrial septal defect, Hypoplastic left heart, Aortic ... |
OMIM:617660 |
| Stickler Syndrome, Type I |
|
Cleft palate, Mitral valve prolapse, Pierre-Robin sequence, Bifid uvula, Submucous cleft hard palate |
OMIM:108300 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomyopathy |
ORPHA:85447 |
| Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy |
OMIM:602390 |
| Hydrolethalus |
|
Cleft palate, Gingival cleft, Bifid uvula, Unilateral cleft lip, Submucous cleft hard palate |
ORPHA:2189 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bradycardia, Tachycardia |
OMIM:614653 |
| Autosomal Recessive Centronuclear Myopathy |
|
High palate, Bifid uvula, Left ventricular hypertrophy, Abnormal heart valve morphology, Narrow m... |
ORPHA:169186 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Schilbach-Rott Syndrome |
|
Bifid uvula, Narrow mouth, Submucous cleft hard palate |
OMIM:164220 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Smooth philtrum, Cleft palate, Long philtrum, Velopharyngeal insufficiency, Thin vermilion border... |
OMIM:614701 |
| Brugada Syndrome 5 |
|
Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Thick lower lip vermilion, Ventricular septal defect, Wide mouth, Unilateral cleft lip, Unilatera... |
OMIM:619103 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Pyloric stenosis, Bicuspid aortic valve, Ventricular septal defect, High palate, Long philtrum, I... |
ORPHA:457279 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Smooth philtrum, Cleft palate, Long philtrum, Abnormal heart morpholog... |
ORPHA:404440 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia |
OMIM:616949 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Atrial fibrillation, Prolonged QT interval, Tachycardia, Bradycardia |
OMIM:613327 |
| Orofaciodigital Syndrome Iii |
|
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Bifid tongue |
OMIM:258850 |
| Tetrasomy 12P |
|
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Anal atresia, Abnormal soft ... |
ORPHA:884 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:614702 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
| Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension |
ORPHA:391673 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, High palate, Cleft palate, Short philtrum, Bifid uvula, Narrow mouth |
ORPHA:96184 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Arrhythmia |
OMIM:617021 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Macroglossia, Bifid uvula, ... |
OMIM:612938 |
| Arthrogryposis, Distal, Type 3 |
|
High palate, Cleft palate, Bifid uvula, Submucous cleft hard palate |
OMIM:114300 |
| Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Arrhythmia, Congestive heart failure |
ORPHA:157973 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... |
ORPHA:563 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Widely spaced teeth, Hypodontia, Cleft palate, Ventricular septal defect, Abnormal dental enamel ... |
ORPHA:1071 |
| Craniosynostosis 2 |
|
Cleft soft palate, Supernumerary tooth |
OMIM:604757 |
| Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Bradycardia, Paroxysmal supraventricular tachycardia |
OMIM:601375 |
| Salih Myopathy |
|
Dilated cardiomyopathy, Arrhythmia |
OMIM:611705 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Cleft palate, Bifid uvula, Delayed eruption of teeth, Aortic valve stenosis,... |
ORPHA:2780 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft lip, Unilateral cleft palate, Submucous cleft hard palate |
OMIM:619122 |
| Rapp-Hodgkin Syndrome |
|
Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Velopharyngeal insufficiency, Bifid uvula... |
OMIM:129400 |
| W Syndrome |
|
Broad uvula, Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft hard palate |
ORPHA:2804 |
| 1Q41Q42 Microdeletion Syndrome |
|
Cleft palate, Submucous cleft hard palate, Thick vermilion border |
ORPHA:250999 |
| Auriculocondylar Syndrome |
|
Mandibular condyle aplasia, Cleft palate, Dental crowding, Hamartoma of tongue, Microglossia, Bif... |
ORPHA:137888 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Atrioventricular block, Left bundle branch block, Transient... |
OMIM:115197 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Smooth philtrum, Short philtrum, Thin vermilion border, Bifid uvula, Deep philtrum, Tented upper ... |
OMIM:618622 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Submucous cleft hard palate, Bifid uvula, Delayed eruption of teeth, Narrow mouth, Thin upper lip... |
OMIM:300990 |
| Zimmermann-Laband Syndrome |
|
Hypodontia, High palate, Cleft palate, Wide mouth, Macroglossia, Supernumerary tooth, Bifid uvula... |
ORPHA:3473 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:302060 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618775 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Arrhythmia |
ORPHA:2928 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Cleft palate, Duodenal atresia, Submucous cleft hard palate, Double ou... |
OMIM:301043 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Hypodontia, High palate, Bifid uvula, Delayed eruption of teeth, Dental malocclusion |
OMIM:612350 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Abnormal left ventricular function, Arrhythmia |
OMIM:618098 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia |
ORPHA:565624 |
| Acquired Methemoglobinemia |
|
Palpitations, Syncope, Arrhythmia, Tachycardia |
ORPHA:464453 |
| Orofaciodigital Syndrome Type 2 |
|
Peg-shaped maxillary lateral incisors, Agenesis of central incisor, Cleft palate, High palate, Ha... |
ORPHA:2751 |
| Emanuel Syndrome |
|
Ventricular septal defect, High palate, Cleft palate, Ectopic anus, Truncus arteriosus, Long phil... |
ORPHA:96170 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Short philtrum, Long philtrum, Drooling, Bifid uvula, Downturned cor... |
OMIM:619121 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Systolic heart murmur, Palpitations, Pul... |
ORPHA:99104 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Tachycardia |
OMIM:613239 |
| Cardiogenic Shock |
|
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... |
ORPHA:97292 |
| Pallister W Syndrome |
|
Broad uvula, Agenesis of maxillary central incisor, Agenesis of central incisor, Submucous cleft ... |
OMIM:311450 |
| Amish Lethal Microcephaly |
|
Cleft soft palate |
ORPHA:99742 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure |
ORPHA:85446 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
| Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia |
OMIM:310200 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
| Cree Mental Retardation Syndrome |
|
Cleft soft palate |
OMIM:606851 |
| Hemochromatosis, Type 4 |
|
Arrhythmia, Cardiomyopathy |
OMIM:606069 |
| 8Q22.1 Microdeletion Syndrome |
|
Abnormality of the dentition, Submucous cleft hard palate, Long philtrum |
ORPHA:178303 |
| Neuroleptic Malignant Syndrome |
|
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Arrhythmia, Hypo... |
ORPHA:94093 |
| Temple Syndrome |
|
Bifid uvula |
ORPHA:254516 |
| Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Villous atrophy, Bifid uvula |
OMIM:601110 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Cerebral ischemia, Congestive heart failure, Right bundle branch block, Sudd... |
ORPHA:1880 |
| Myhre Syndrome |
|
Abnormal lip morphology, Cleft palate, Gingival cleft, Thin vermilion border, Bifid uvula, Unilat... |
ORPHA:2588 |
| Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
| Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... |
ORPHA:99106 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... |
ORPHA:75565 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Esophageal atresia, Tracheoesophageal fistula, Muscular ventricular septal defe... |
OMIM:619227 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Reduced ejection ... |
ORPHA:1677 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Cleft palate, Pierre-Robin sequence, Velopharyngeal insufficiency, Tet... |
OMIM:192430 |
| Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Arrhythmia, Tricuspid regurgitation, Pulmonic stenosis |
ORPHA:228410 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Hypomandibular Faciocranial Dysostosis |
|
Cleft palate, Aplasia/Hypoplasia of the tongue, Bifid uvula, Atrial septal defect, Narrow mouth |
ORPHA:1790 |
| Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
| Thrombotic Thrombocytopenic Purpura |
|
Myocardial infarction, Arrhythmia |
ORPHA:54057 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Ventricular arrhythmia |
OMIM:613426 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death |
ORPHA:156 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Arrhythmia |
OMIM:615084 |
| Limb-Mammary Syndrome |
|
Hypodontia, Cleft palate, Bifid uvula, Cleft lip, Submucous cleft soft palate, Cleft hard palate |
ORPHA:69085 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia |
ORPHA:29822 |
| Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Smooth philtrum, High palate, Cleft palate, Cleft soft palate, Bifid u... |
OMIM:615582 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Smooth philtrum, Cleft palate, Pierre-Robin sequence, Oligodontia, Lon... |
OMIM:608670 |
| Isolated Cleft Lip |
|
Hypodontia, Supernumerary maxillary incisor, Situs inversus totalis, Velopharyngeal insufficiency... |
ORPHA:199302 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Shock, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
| Chromosome 18Q Deletion Syndrome |
|
Ventricular septal defect, Cleft palate, Short philtrum, U-Shaped upper lip vermilion, Dysplastic... |
OMIM:601808 |
| Typhoid |
|
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Arrhythmia |
ORPHA:99745 |
| Cri-Du-Chat Syndrome |
|
Thick lower lip vermilion, High palate, Short philtrum, Bifid uvula, Downturned corners of mouth,... |
OMIM:123450 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Hypertension, Retinal hemorrhage, Subdural hemorrhage, Subconjunctival hemorrhage, H... |
ORPHA:99827 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, High palate, Cleft palate, Microdontia, Branchial fistula, Bifid uvula, Intestina... |
OMIM:113650 |
| Cirrhotic Cardiomyopathy |
|
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... |
ORPHA:57777 |
| Loeys-Dietz Syndrome 4 |
|
High, narrow palate, Bicuspid aortic valve, High palate, Mitral valve prolapse, Bifid uvula, Eosi... |
OMIM:614816 |
| Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Arrhythmia |
OMIM:300257 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... |
OMIM:171420 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Syncope, Palpitations, Pulmonary arterial hypertension, Tricuspid regurgitation, Elevated pulmona... |
ORPHA:275766 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cleft palate, Failure of eruption of permanent teeth, Tooth malposition, Bifid uvula, Submucous c... |
ORPHA:2250 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... |
ORPHA:75249 |
| Proximal Spinal Muscular Atrophy |
|
Bradycardia |
ORPHA:70 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Bradycardia, Palpitations |
ORPHA:91355 |
| Desmosterolosis |
|
Cleft palate, Bifid uvula, Intestinal malrotation, Narrow mouth, Anomalous pulmonary venous retur... |
ORPHA:35107 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, High palate, Cleft palate, Oligodontia, Macrogl... |
ORPHA:453499 |
| Paragangliomas 3 |
|
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia |
OMIM:605373 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Bifid uvula, Lobulated tongue, Abnormality of the denti... |
ORPHA:2752 |
| Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Prolonged QT interval, Atrioventricular block, Heart block, Abnormal elec... |
ORPHA:398124 |
| Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... |
ORPHA:1329 |
| Polymyositis |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Pericarditis, Abnormal atrioventricular cond... |
ORPHA:732 |
| Heart-Hand Syndrome Type 2 |
|
Arrhythmia |
ORPHA:1350 |
| Walker-Warburg Syndrome |
|
Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:899 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hypertrophic cardiomyopathy, High palate, Open bite, Deep philtrum, Pulmonic stenosis, Atrial sep... |
OMIM:115150 |
| Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Atrial septal defect, Bifid uvula, Pulmonary valve atresia |
OMIM:301030 |
| Holoprosencephaly 2 |
|
Median cleft lip and palate, Solitary median maxillary central incisor, Single ventricle, Bifid u... |
OMIM:157170 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Arrhythmia |
ORPHA:168593 |
| Moebius Syndrome |
|
Abnormality of the dentition, High palate, Bifid uvula |
OMIM:157900 |
| Autoimmune Hemolytic Anemia |
|
Arrhythmia, Congestive heart failure |
ORPHA:98375 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
High palate, Cleft palate, Pierre-Robin sequence, Bifid uvula, Aplasia of the epiglottis, Cleft l... |
OMIM:268305 |
| Treacher Collins Syndrome 1 |
|
Cleft palate, Wide mouth, Cleft soft palate, Abnormal parotid gland morphology, Abnormal heart mo... |
OMIM:154500 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
| Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, High palate, Long philtrum, Cleft soft palate, Glossoptosis, Abnormali... |
OMIM:117650 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:230839 |
| Dk1-Cdg |
|
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:91131 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Sinus bradycardia, Tricuspid regurgitation, Mitral regurgitation |
OMIM:261990 |
| Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Long philtrum |
ORPHA:2756 |
| Neu-Laxova Syndrome |
|
Cleft palate, Abnormality of the philtrum, Bifid uvula, Abnormality of the mouth, Everted lower l... |
ORPHA:2671 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Tachycardia, Heart block, Arrhythmia, Hypotension, Capillary leak |
ORPHA:542323 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure |
OMIM:266500 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Arrhythmia |
ORPHA:352447 |
| Marden-Walker Syndrome |
|
Pyloric stenosis, Dextrocardia, Ventricular septal defect, Cleft palate, Situs inversus totalis, ... |
ORPHA:2461 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia |
ORPHA:90674 |
| Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism |
ORPHA:624 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin vermilion border, Bifid uvula, Long philtrum |
OMIM:241410 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, High palate, Bifid uvula |
OMIM:300472 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Hypodontia, Dens in dente, Bifid uvula, Enamel hypoplasia, Macrodontia |
OMIM:263540 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Widely spaced teeth, High, narrow palate, Ventricular septal defect, Left ventricular noncompacti... |
OMIM:300967 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Arrhythmia |
OMIM:249270 |
| Orofaciodigital Syndrome Type 4 |
|
High, narrow palate, Perineal fistula, Cleft palate, Short philtrum, Rectovaginal fistula, Median... |
ORPHA:2753 |
| Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Bifid uvula, Glossoptosis |
ORPHA:1427 |
| Paragangliomas 1 |
|
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia |
OMIM:168000 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Smooth philtrum, Short philtrum |
ORPHA:293725 |
| Apert Syndrome |
|
Pyloric stenosis, Ventricular septal defect, Cleft palate, Ectopic anus, Esophageal atresia, Dela... |
OMIM:101200 |
| Holoprosencephaly 3 |
|
Cleft lip, Solitary median maxillary central incisor, Cleft palate, Bifid uvula |
OMIM:142945 |
| Branchioskeletogenital Syndrome |
|
Carious teeth, Premature loss of teeth, Short philtrum, Thin vermilion border, Bifid uvula, Abnor... |
ORPHA:1299 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:1194 |
| Meckel Syndrome 12 |
|
Bifid uvula |
OMIM:616258 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Cleft palate, Long philtrum, Bifid uvula, Anal atresia, Atrial septal defect, Ab... |
OMIM:300968 |
| Hec Syndrome |
|
Arrhythmia, Cardiomyopathy |
ORPHA:2119 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Ventricular septal defect, Cleft palate, Pierre-Robin sequence, Cardiomeg... |
OMIM:614921 |
| Steinfeld Syndrome |
|
Abnormal heart morphology, Bifid uvula, Median cleft lip and palate |
OMIM:184705 |
| Megalocornea-Mental Retardation Syndrome |
|
High palate, Bifid uvula, Long philtrum |
OMIM:249310 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Bifid uvula, Pulmonic stenosis, Enamel hypoplasia, Abnormality of the dentition, Secu... |
OMIM:615802 |
| Hemochromatosis, Type 1 |
|
Telangiectasia, Arrhythmia, Congestive heart failure, Cardiomyopathy |
OMIM:235200 |
| American Trypanosomiasis |
|
Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:3386 |
| Cardiofaciocutaneous Syndrome |
|
Hypertrophic cardiomyopathy, High palate, Long philtrum, Pulmonic stenosis, Atrial septal defect,... |
ORPHA:1340 |
| Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Subconjunctival hemorrhage, Tachycardia, Bradycardia, Hypovolemia, Internal ... |
ORPHA:99826 |
| Familial Isolated Hypoparathyroidism |
|
Arrhythmia |
ORPHA:2238 |
| Lyme Disease |
|
Atrioventricular block, Arrhythmia |
ORPHA:91546 |
| Infantile Refsum Disease |
|
Cardiomyopathy, Arrhythmia |
ORPHA:772 |
| Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:96 |
| Osteopathia Striata With Cranial Sclerosis |
|
Thick lower lip vermilion, Ventricular septal defect, High palate, Cleft palate, Pierre-Robin seq... |
OMIM:300373 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, High palate, Short philtrum, Bifid uvula, Tented upper lip vermilion, Down... |
ORPHA:247262 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
High, narrow palate, Bicuspid aortic valve, Cleft palate, Ventricular septal defect, Open bite, E... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
High, narrow palate, Bicuspid aortic valve, Cleft palate, Ventricular septal defect, Open bite, E... |
ORPHA:352665 |
| Native American Myopathy |
|
High palate, Cleft palate, Bifid uvula, Downturned corners of mouth, Submucous cleft soft palate |
ORPHA:168572 |
| Opitz Gbbb Syndrome, Type Ii |
|
Ventricular septal defect, Cleft palate, High palate, Smooth philtrum, Short lingual frenulum, Cl... |
OMIM:145410 |
| Dubowitz Syndrome |
|
Carious teeth, High palate, Velopharyngeal insufficiency, Delayed eruption of teeth, Submucous cl... |
OMIM:223370 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Thick lower lip vermilion, High, narrow palate, Smooth philtrum, Cleft palate, Short philtrum, Bi... |
OMIM:309583 |
| Yellow Fever |
|
Shock, Reduced ejection fraction, Bradycardia, Hematemesis, Supraventricular arrhythmia, Internal... |
ORPHA:99829 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, T... |
ORPHA:26793 |
| Microphthalmia, Syndromic 2 |
|
Dextrocardia, Ventricular septal defect, Mitral valve prolapse, Oligodontia, Long philtrum, Submu... |
OMIM:300166 |
| Tolchin-Le Caignec Syndrome |
|
Cardiac rhabdomyoma, High palate, Narrow mouth, Submucous cleft hard palate |
OMIM:618971 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Arrhythmia |
ORPHA:3191 |
| Desbuquois Dysplasia 2 |
|
Hypodontia, Cleft palate, Long philtrum, Bifid uvula, Dental crowding |
OMIM:615777 |
| Prader-Willi Syndrome Due To Translocation |
|
Carious teeth, High palate, Cleft palate, Wide mouth, Triangular-shaped open mouth, Microdontia o... |
ORPHA:177907 |
| Bohring-Opitz Syndrome |
|
Bradycardia |
ORPHA:97297 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hypertension, Left anterior fascicular block, Abnormal left ventricular function, Arrhythmia, Hea... |
ORPHA:437572 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hypodontia, Bifid uvula, Selective tooth agenesis, Dental malocclusion, Fragile teeth |
ORPHA:2959 |
| Chromosome 2Q37 Deletion Syndrome |
|
Arrhythmia |
OMIM:600430 |
| Zttk Syndrome |
|
Ventricular septal defect, High palate, Short philtrum, Thin vermilion border, Bifid uvula, Downt... |
OMIM:617140 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Arrhythmia |
OMIM:273400 |
| Frontometaphyseal Dysplasia 2 |
|
Pyloric stenosis, Bicuspid aortic valve, High palate, Cleft palate, Pierre-Robin sequence, Short ... |
OMIM:617137 |
| Apert Syndrome |
|
Cleft palate, Ectopic anus, Esophageal atresia, Delayed eruption of teeth, Bifid uvula, Narrow pa... |
ORPHA:87 |
| Fabry Disease |
|
Hypertension, Myocardial infarction, Transient ischemic attack, Congestive heart failure, Arrhyth... |
OMIM:301500 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Arrhythmia, Pericarditis, Hypotension |
ORPHA:188 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia |
OMIM:255120 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Bifid uvula, Cleft palate, Pierre-Robin sequence |
OMIM:183900 |
| Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis |
OMIM:611553 |
| Leber Optic Atrophy |
|
Arrhythmia |
OMIM:535000 |
| Craniolenticulosutural Dysplasia |
|
Carious teeth, Cleft palate, Smooth philtrum, Wide mouth, Long philtrum, Bifid uvula, Delayed eru... |
OMIM:607812 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Neoplasm of the tongue, Ventricular septal defect, Atrioventricular canal defect, Bifid uvula, At... |
ORPHA:3047 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Widely spaced teeth, Ventricular septal defect, High palate, Smooth philtrum, Long philtrum, Bifi... |
OMIM:617506 |
| Ear-Patella-Short Stature Syndrome |
|
High, narrow palate, Cleft palate, Bifid uvula, Narrow mouth, Thick vermilion border, Submucous c... |
ORPHA:2554 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
| Histiocytoid Cardiomyopathy |
|
Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricular tachycardi... |
ORPHA:137675 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
| Kearns-Sayre Syndrome |
|
Cardiomyopathy, Third degree atrioventricular block, Arrhythmia |
OMIM:530000 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Submucous cleft hard palate |
OMIM:618891 |
| Elsahy-Waters Syndrome |
|
Thick lower lip vermilion, High palate, Long philtrum, Bifid uvula, Delayed eruption of teeth, Mu... |
OMIM:211380 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia |
ORPHA:60040 |
| Dubowitz Syndrome |
|
High palate, Rectal prolapse, Wide mouth, Malabsorption, Delayed eruption of teeth, Abnormality o... |
ORPHA:235 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Cleft palate, Wide mouth, Abnormal dental enamel morphology, Bifid uvula, Th... |
ORPHA:2658 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Arrhythmia |
ORPHA:57 |
| Rheumatic Fever |
|
Myocarditis, Epistaxis, Pericarditis, Arrhythmia |
ORPHA:3099 |
| Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Abnormality of salivation, Abnormal soft palate morphology, Abnor... |
ORPHA:100050 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypoplasia of the tooth germ, Bifid uvula |
ORPHA:293967 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate |
OMIM:614557 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Cardiomyopathy, Arrhythmia, Hypotension |
ORPHA:159 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Wide mouth, Microdontia, Macroglossia, Deep philtrum, Thin lower lip vermilion, Thin upper lip ve... |
OMIM:619194 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Arrhythmia |
ORPHA:42 |
| Ileal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Palpitations, Arterial occlusion, Pulmonic stenosi... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Right ventricular failure, Tricuspid stenosis, Palpitations, Arterial occlusion, Pulmonic stenosi... |
ORPHA:100077 |
| Alg9-Cdg |
|
Ventricular septal defect, Smooth philtrum, Villous atrophy, Wide mouth, Pericardial effusion, Lo... |
ORPHA:79328 |
| Trichohepatoenteric Syndrome 1 |
|
Ventricular septal defect, Villous atrophy, Wide mouth, Long philtrum, Bifid uvula, Pulmonic sten... |
OMIM:222470 |
| 15Q Overgrowth Syndrome |
|
High, narrow palate, High palate, Smooth philtrum, Bifid uvula, Dental crowding, Abnormality of t... |
ORPHA:314585 |
| Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Cleft soft palate, Submucous cleft soft palate |
ORPHA:2282 |
| Hydrops Fetalis |
|
Arrhythmia, Capillary leak |
ORPHA:1041 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Arrhythmia |
ORPHA:171876 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Bradycardia |
ORPHA:226307 |
| Ogden Syndrome |
|
