Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Nathalie Syndrome |
|
Arrhythmia, Short stature |
ORPHA:2663 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Arrhythmia, Short stature |
OMIM:618453 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... |
OMIM:604169 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Intrauterine growth retardation, Patent ductus arteriosus, Hypertension, Arrhythmia |
OMIM:617021 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly |
ORPHA:63862 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Intrauterine growth retardation, Cardiomyopathy, Arrhythmia, Congestive heart failure |
OMIM:616198 |
Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia |
ORPHA:104 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy |
OMIM:207950 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
Left Ventricular Noncompaction 8 |
|
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... |
OMIM:615373 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... |
ORPHA:217607 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Postnatal growth retardation, Cervical spina bifida, Growth delay |
OMIM:600122 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Arrhythmia |
OMIM:300695 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Spina bifida occulta |
ORPHA:230839 |
Dystonia 23 |
|
Arrhythmia |
OMIM:614860 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida, Intrauterine growth retardation, Short stature |
ORPHA:1327 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Neu-Laxova Syndrome 2 |
|
Polyhydramnios, Spina bifida, Intrauterine growth retardation, Edema |
OMIM:616038 |
Symmetrical Thalamic Calcifications |
|
Arrhythmia |
ORPHA:1314 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida, Patent ductus arteriosus, Tricuspid regurgitation |
ORPHA:1120 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure |
OMIM:192600 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure |
ORPHA:1345 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:225 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Hypertension, Con... |
OMIM:540000 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Eosinophilia, Palpitatio... |
ORPHA:75566 |
Fountain Syndrome |
|
Spina bifida, Facial edema, Spina bifida occulta, Short stature |
ORPHA:3219 |
Posterior Meningocele |
|
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele, Hydr... |
ORPHA:268810 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:300696 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Polyhydramnios, Spinal dysraphis... |
ORPHA:63259 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Dilated cardiomyopathy, Arrhythmia |
OMIM:181350 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Arrhythmia, Cardiomyopathy |
OMIM:612999 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Arrhythmia |
OMIM:310095 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... |
ORPHA:99103 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... |
ORPHA:85451 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... |
ORPHA:263297 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation |
ORPHA:90647 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta |
ORPHA:2437 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Alg3-Cdg |
|
Cardiomyopathy, Neural tube defect |
ORPHA:79321 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:602390 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Short stature, Hydranencephaly, Meningocele, Spina bifida, Intrauterine growth ... |
ORPHA:1393 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Arrhythmia, Congestive heart failure |
ORPHA:157973 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:614702 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Arrhythmia, Short stature |
ORPHA:2928 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Polyhydramnios, Spina bifida, Intrauterine g... |
ORPHA:3412 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Short stature, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb short... |
ORPHA:2839 |
Waardenburg Syndrome Type 1 |
|
Spina bifida, Meningocele |
ORPHA:894 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Arrhythmia |
OMIM:616516 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus, Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dilated cardiomy... |
ORPHA:398124 |
Naxos Disease |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... |
OMIM:601214 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure |
ORPHA:85446 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Arrhythmia, Cerebral ischemia, Patent ductus arteriosus, Right bundle branc... |
ORPHA:1880 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Arrhythmia, Neonatal death, Umbilical hernia, Growth delay, Hypertrophic cardiomyopathy, Intraute... |
OMIM:614052 |
Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Short stature, Pulmonic stenosis, Arrhythmia |
ORPHA:228410 |
Attrv30M Amyloidosis |
|
Arrhythmia, Cardiomyopathy, Atrioventricular block |
ORPHA:85447 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... |
ORPHA:75565 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Arrhythmia |
ORPHA:99944 |
Liddle Syndrome |
|
Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Arrhythmia, Growth delay, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Congestiv... |
ORPHA:1194 |
Mosaic Trisomy 9 |
|
Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Oligohydramnios, Intrauterine growth r... |
ORPHA:99776 |
Salih Myopathy |
|
Dilated cardiomyopathy, Arrhythmia |
OMIM:611705 |
Cardiac Diverticulum |
|
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu... |
ORPHA:1686 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Short stature, Pulmonic stenosis, Arrhythmia, Spina bifida occulta, Myocardi... |
ORPHA:500 |
Propionic Acidemia |
|
Arrhythmia, Cardiomyopathy |
ORPHA:35 |
Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Bundle branch block, Left-to-right shunt, Systolic heart murmur, Pre... |
ORPHA:99104 |
Pagod Syndrome |
|
Short stature, Sudden cardiac death, Arrhythmia, Meningocele, Encephalocele, Spina bifida |
ORPHA:991 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Growth delay, Arrhythmia, Cardiac arrest |
ORPHA:168593 |
Hemochromatosis, Type 4 |
|
Arrhythmia, Cardiomyopathy |
OMIM:606069 |
Typhoid |
|
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Arrhythmia |
ORPHA:99745 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... |
ORPHA:216694 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Abnormal left ventricular function, Arrhythmia |
OMIM:618098 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... |
ORPHA:330001 |
Congenital Hypothyroidism |
|
Short stature, Arrhythmia, Hypotension, Umbilical hernia, Hypertension |
ORPHA:442 |
Thrombotic Thrombocytopenic Purpura |
|
Myocardial infarction, Arrhythmia |
ORPHA:54057 |
Trisomy 18 |
|
Holoprosencephaly, Short stature, Anencephaly, Growth delay, Oligohydramnios, Intrauterine growth... |
ORPHA:3380 |
Cirrhotic Cardiomyopathy |
|
Third heart sound, Left ventricular diastolic dysfunction, Elevated pulmonary artery pressure, Ar... |
ORPHA:57777 |
Dk1-Cdg |
|
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Short stature |
ORPHA:91131 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Arrhythmia |
OMIM:615084 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Arrhythmia, Cardiomyopathy, Short stature |
OMIM:249270 |
Polymyositis |
|
Arrhythmia, Vasculitis, Myocardial infarction, Abnormal atrioventricular conduction, Dilated card... |
ORPHA:732 |
Acquired Methemoglobinemia |
|
Palpitations, Tachycardia, Arrhythmia, Syncope |
ORPHA:464453 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Arrhythmia, Cerebral ischemia |
ORPHA:60040 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Short stature, Mitral regurgitation, Arrhythmia, Patent ductus arteriosus,... |
ORPHA:363705 |
Hec Syndrome |
|
Arrhythmia, Cardiomyopathy, Communicating hydrocephalus |
ORPHA:2119 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia |
ORPHA:542306 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia |
ORPHA:29822 |
Heart-Hand Syndrome Type 2 |
|
Arrhythmia |
ORPHA:1350 |
Neu-Laxova Syndrome 1 |
|
Intrauterine growth retardation, Short umbilical cord, Hydranencephaly, Small placenta, Polyhydra... |
OMIM:256520 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia |
OMIM:616949 |
Infantile Refsum Disease |
|
Arrhythmia, Cardiomyopathy, Short stature |
ORPHA:772 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Arrhythmia |
ORPHA:352447 |
Chromosome 2Q37 Deletion Syndrome |
|
Arrhythmia, Short stature |
OMIM:600430 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Subaortic Stenosis-Short Stature Syndrome |
|
Arrhythmia, Short stature |
ORPHA:3191 |
Fabry Disease |
|
Angina pectoris, Arrhythmia, Myocardial infarction, Delayed puberty, Hypertension, Transient isch... |
OMIM:301500 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:156 |
Noonan Syndrome 5 |
|
Pulmonic stenosis, Hypertrophic cardiomyopathy, Arrhythmia, Short stature |
OMIM:611553 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Tricuspid regurgitation, Palpitations, Midsystolic murmur, Arrhythmia, Syncope, Atrial fibrillati... |
ORPHA:1677 |
Neu-Laxova Syndrome |
|
Polyhydramnios, Spina bifida, Intrauterine growth retardation |
ORPHA:2671 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Abnormal left ventricular function, Arrhythmia, Heart murmur, Hyp... |
ORPHA:437572 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Arrhythmia, Dilated cardiomyopathy, Hypertro... |
OMIM:300257 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
Trisomy 20P |
|
Spina bifida, Umbilical hernia |
ORPHA:261318 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Heart block, Ca... |
ORPHA:542323 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Spina bifida, Patent ductus arteriosus, Umbilical hernia |
ORPHA:2092 |
Barth Syndrome |
|
Tricuspid regurgitation, Arrhythmia, Increased left ventricular end-diastolic volume, Dilated car... |
OMIM:302060 |
Refsum Disease, Classic |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:266500 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia |
ORPHA:624 |
Hemochromatosis, Type 1 |
|
Telangiectasia, Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:235200 |
19P13.12 Microdeletion Syndrome |
|
Mitral regurgitation, Aortic regurgitation, Intrauterine growth retardation, Arrhythmia |
ORPHA:254346 |
Muscular Dystrophy, Duchenne Type |
|
Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Cardiomyopathy, Congestive heart failure |
OMIM:310200 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Arrhythmia, Short stature |
ORPHA:3201 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:96 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Tachycardia, Arrhythmia, Dilated cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio... |
ORPHA:26793 |
Limb Body Wall Complex |
|
Myelomeningocele, Hydrocephalus, Short umbilical cord, Anencephaly, Spina bifida occulta, Encepha... |
ORPHA:2369 |
American Trypanosomiasis |
|
Arrhythmia, Cardiomyopathy, Myocarditis, Congestive heart failure |
ORPHA:3386 |
Nail-Patella Syndrome |
|
Spina bifida, Short stature |
OMIM:161200 |
Hallermann-Streiff Syndrome |
|
Pulmonary arterial hypertension, Proportionate short stature, Telangiectasia, Spina bifida, Hyper... |
OMIM:234100 |
Familial Isolated Hypoparathyroidism |
|
Arrhythmia, Short stature |
ORPHA:2238 |
Kniest-Like Dysplasia, Lethal |
|
Rhizomelia, Patent ductus arteriosus, Arrhythmia, Lethal short-limbed short stature |
OMIM:245190 |
22Q11.2 Deletion Syndrome |
|
Hydrocephalus, Short stature, Corneal neovascularization, Arrhinencephaly, Truncus arteriosus, Hy... |
ORPHA:567 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Arrhythmia, Cardiomyopathy, Short stature |
OMIM:530000 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Ogden Syndrome |
|
Postnatal growth retardation, Arrhythmia, Cardiogenic shock |
ORPHA:276432 |
Lyme Disease |
|
Arrhythmia, Atrioventricular block |
ORPHA:91546 |
Autoimmune Hemolytic Anemia |
|
Arrhythmia, Congestive heart failure |
ORPHA:98375 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Arrhythmia |
ORPHA:42 |
16P11.2P12.2 Microdeletion Syndrome |
|
Intrauterine growth retardation, Tricuspid regurgitation, Arrhythmia, Short stature |
ORPHA:261211 |
Neurofibromatosis, Type I |
|
Hydrocephalus, Aqueductal stenosis, Short stature, Hypertension, Spina bifida |
OMIM:162200 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Rheumatic Fever |
|
Epistaxis, Pericarditis, Arrhythmia, Myocarditis |
ORPHA:3099 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Proportionate short stature, Arrhythmia, Hypovolemic shock |
ORPHA:171876 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Growth delay, Arrhythmia |
ORPHA:57 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Arrhythmia |
OMIM:153400 |
Holoprosencephaly |
|
Hydrocephalus, Holoprosencephaly, Arrhythmia, Spinal dysraphism, Branchial anomaly, Encephalocele |
ORPHA:2162 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Arrhythmia, Portal hypertension, Cardiomyopathy, Congestive heart failure, Elevated jugular venou... |
ORPHA:465508 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Arrhythmia, Cardiomyopathy, Renal tubular epithelial necrosis |
ORPHA:157 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic periportal necrosis, Arrhythmia, Cardiomyopathy, Congestive heart failure |
ORPHA:26791 |
Fanconi Anemia |
|
Hydrocephalus, Short stature, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Umbilical he... |
ORPHA:84 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Postnatal growth retardation, Intrauterine growth retardation, Arrhythmia |
OMIM:619184 |
Basal Cell Nevus Syndrome |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Microscopic Polyangiitis |
|
Arrhythmia, Vasculitis, Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart fa... |
ORPHA:727 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Arrhythmia |
ORPHA:33001 |
Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia |
OMIM:255120 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Spina bifida, Truncus arteriosus, Short stature |
ORPHA:508498 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Arrhythmia, Heart block, Renal tubular epithelial necrosis, Cardiomyopathy |
ORPHA:228308 |
Ogden Syndrome |
|
Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Postnatal growth... |
OMIM:300855 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Pericarditis, Arrhythmia, Myocarditis |
ORPHA:188 |
Al Amyloidosis |
|
Abnormal P wave, Jaw claudication, Arrhythmia, Abnormal EKG, Postural hypotension with compensato... |
ORPHA:85443 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Growth delay, Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:615471 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Short stature, Edema of the dorsum of hands, Patent ductus arteriosu... |
OMIM:274000 |
Jacobsen Syndrome |
|
Aortic valve stenosis, Short stature, Growth delay, Spina bifida, Intrauterine growth retardation |
ORPHA:2308 |
Giant Cell Arteritis |
|
Sudden cardiac death, Arrhythmia, Vasculitis, Cerebral ischemia, Pericarditis, Epistaxis |
ORPHA:397 |
Juvenile Dermatomyositis |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Arrhyt... |
ORPHA:93672 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Mitral regurgitation, Arrhythmia, Cardiomyopathy, Congestive heart failure |
ORPHA:746 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension |
ORPHA:159 |
Legionnaires Disease |
|
Hypotension, Pericarditis, Arrhythmia, Myocarditis |
ORPHA:549 |
Scorpion Envenomation |
|
Bundle branch block, Premature ventricular contraction, ST segment depression, Tachycardia, Arrhy... |
ORPHA:466677 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Arrhythmia |
OMIM:273400 |
Hyperkalemic Periodic Paralysis |
|
Arrhythmia, Congestive heart failure |
ORPHA:682 |
Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Short ... |
ORPHA:324 |
Oculodentodigital Dysplasia |
|
Arrhythmia, Umbilical hernia |
ORPHA:2710 |
Mitochondrial Trifunctional Protein Deficiency |
|
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure |
OMIM:609015 |
Mgat2-Cdg |
|
Reflex asystolic syncope, Patent ductus arteriosus, Arrhythmia |
ORPHA:79329 |
Vater/Vacterl Association |
|
Occipital encephalocele, Patent ductus arteriosus, Postnatal growth retardation, Spina bifida, In... |
OMIM:192350 |
Campomelic Dysplasia |
|
Hydrocephalus, Neonatal short-limb short stature, Disproportionate short-limb short stature, Poly... |
OMIM:114290 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... |
ORPHA:100077 |
Colchicine Poisoning |
|
Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive heart failure |
ORPHA:31824 |
Hydrops Fetalis |
|
Arrhythmia, Capillary leak |
ORPHA:1041 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Patent ductus arteriosus |
OMIM:619480 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Arrhythmia, Hypotension, Short stature |
ORPHA:2135 |
Mucopolysaccharidosis Type 2 |
|
Short stature, Hypertension, Arrhythmia, Communicating hydrocephalus, Umbilical hernia, Growth de... |
ORPHA:580 |
Specc1L-Related Hypertelorism Syndrome |
|
Arrhythmia, Patent ductus arteriosus, Umbilical hernia |
ORPHA:1519 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Arrhythmia, Cardiomyopathy |
ORPHA:228305 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Arrhythmia |
OMIM:608836 |
Aicardi Syndrome |
|
Postnatal growth retardation, Spina bifida |
OMIM:304050 |
Duodenal Neuroendocrine Tumor |
|
Melena, Hematemesis, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitatio... |
ORPHA:100076 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Arrhythmia, Short stature |
OMIM:171480 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Short stature, Hypertension, Arrhythmia, Heart murmur, Umbilical hernia, Growth delay, Cardiomyop... |
ORPHA:217085 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Hematemesis, Recurrent intrapulmonary hemorrhage, Sudden cardiac ... |
ORPHA:906 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Short stature, Hypertension, Arrhythmia, Heart murmur, Umbilical hernia, Growth delay, Cardiomyop... |
ORPHA:217093 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Delayed puberty, Growth... |
ORPHA:231226 |
Mastocytosis |
|
Telangiectasia of the skin, Gastrointestinal hemorrhage, Arrhythmia, Hypotension |
ORPHA:98292 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Palpitations, Arrhythmia, Ventricular arrhythmia, Reduced left ventricular ejection fraction, Dil... |
ORPHA:254892 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Pulmonic stenosis, Intraventricular hemorrhage, Postnatal growth retardation, Spin... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Pulmonic stenosis, Intraventricular hemorrhage, Postnatal growth retardation, Spin... |
ORPHA:363958 |
Botulism |
|
Arrhythmia |
ORPHA:1267 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Abnormal EKG, Prolonged QT interval, Arrhythmia |
ORPHA:480864 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Short stature, Junctional ectopic tachycardia, Arrhythmia, Histiocytoid cardiomyop... |
OMIM:309801 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Arrhythmia, Short stature |
ORPHA:3220 |
Schwartz-Jampel Syndrome |
|
Pulmonary arterial hypertension, Arrhythmia, Umbilical hernia, Short stature |
ORPHA:800 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Brad... |
ORPHA:94093 |
Foodborne Botulism |
|
Arrhythmia |
ORPHA:228371 |
Kleefstra Syndrome |
|
Arrhythmia, Short stature |
ORPHA:261494 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia |
OMIM:610131 |
Split Cord Malformation |
|
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele, Hydrom... |
ORPHA:573278 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Arrhythmia |
ORPHA:2878 |
Rubinstein-Taybi Syndrome 1 |
|
Growth delay, Short stature, Spina bifida occulta, Polyhydramnios, Patent ductus arteriosus, Post... |
OMIM:180849 |
Localized Scleroderma |
|
Arrhythmia, Vasculitis, Raynaud phenomenon |
ORPHA:90289 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Delayed puberty, Growth... |
ORPHA:231214 |
Cockayne Syndrome B |
|
Severe short stature, Normal pressure hydrocephalus, Arrhythmia, Postnatal growth retardation, In... |
OMIM:133540 |
Leber Optic Atrophy |
|
Arrhythmia |
OMIM:535000 |
Cockayne Syndrome A |
|
Normal pressure hydrocephalus, Short stature, Severe postnatal growth retardation, Arrhythmia, Hy... |
OMIM:216400 |
African Trypanosomiasis |
|
Myelopathy, Arrhythmia, Myocarditis, Third degree atrioventricular block, Second degree atriovent... |
ORPHA:3385 |
Genetic Recurrent Myoglobinuria |
|
Arrhythmia |
ORPHA:99845 |
Dermatomyositis |
|
Telangiectasia of the skin, Abnormal eosinophil morphology, Sinus tachycardia, Arrhythmia, Myocar... |
ORPHA:221 |
Granulomatosis With Polyangiitis |
|
Angina pectoris, Recurrent intrapulmonary hemorrhage, Arrhythmia, Vasculitis, Cerebral ischemia, ... |
ORPHA:900 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia |
ORPHA:2131 |
Ivic Syndrome |
|
Severe short stature, Arrhythmia |
ORPHA:2307 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Palpitations, Arrhythmia, Low-output congestive heart failure, Cardiomyopathy |
ORPHA:565612 |
Agel Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Cardiomyopathy |
ORPHA:85448 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension |
ORPHA:139411 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pulmonary arterial hypertension, Reduced left ventricular ejection fraction, Arrhythmia, Cardiomy... |
ORPHA:258 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Arrhythmia, Rhizomelic arm shortening, Myocarditis, Disproportionate short stature, Atrioventricu... |
ORPHA:93317 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Severe short stature, Tricuspid regurgitation, Mitral regurgitation, Arrhythmia, D... |
ORPHA:2556 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Delayed puberty, Short stature |
ORPHA:3138 |
Von Hippel-Lindau Disease |
|
Abnormal left ventricular function, Palpitations, Arrhythmia, Myocarditis, Myocardial infarction,... |
ORPHA:892 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Arrhythmia |
OMIM:106300 |
Autosomal Dominant Hypocalcemia |
|
Arrhythmia, Hypotension, Congestive heart failure |
ORPHA:428 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Costello Syndrome |
|
Hydrocephalus, Short stature, Pulmonic stenosis, Arrhythmia, Hypertrophic cardiomyopathy |
OMIM:218040 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Arrhythmia |
ORPHA:68 |
Familial Mediterranean Fever |
|
Myocardial infarction, Pericarditis, Arrhythmia, Vasculitis |
ORPHA:342 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydrocephalus, Pulmonic stenosis, Arrhythmia, Patent ductus arteriosus, Umbilical hernia, Cardiom... |
OMIM:312870 |
Oculodentodigital Dysplasia |
|
Arrhythmia |
OMIM:164200 |
Noonan Syndrome |
|
Arrhythmia, Short stature |
ORPHA:648 |
Hypermobile Ehlers-Danlos Syndrome |
|
Arrhythmia, Umbilical hernia |
ORPHA:285 |
Leptospirosis |
|
Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Subconjunctival hemorrhage, Pe... |
ORPHA:509 |
Kawasaki Disease |
|
Arrhythmia, Vasculitis, Myocarditis, Pericarditis, Congestive heart failure |
ORPHA:2331 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Growth delay, Arrhythmia, Congestive heart failure, Short stature |
OMIM:256040 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Arrhythmia, Rhizomelia, Disproportionate short stature, Myocarditis |
OMIM:250220 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Arrhythmia |
ORPHA:163746 |
Sarcoidosis |
|
Eosinophilia, Arrhythmia, Ventricular tachycardia, Portal hypertension, Heart block, Abnormal car... |
ORPHA:797 |
Stickler Syndrome |
|
Arrhythmia, Short stature |
ORPHA:828 |
Plague |
|
Tachycardia, Arrhythmia, Hematemesis, Hypotension |
ORPHA:707 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Delayed puberty |
OMIM:181450 |