Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Lambert Syndrome |
|
Ventricular septal defect, Branchial anomaly, Intrauterine growth retardation |
ORPHA:1296 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
ORPHA:3283 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
X-Linked Mandibulofacial Dysostosis |
|
Webbed neck, Branchial anomaly, Short stature, Abnormal mitral valve morphology, Pulmonic stenosis |
ORPHA:1131 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Dextrocardia, Abnormal tricuspid valve morphology |
ORPHA:1759 |
Isolated Klippel-Feil Syndrome |
|
Webbed neck, Ventricular septal defect, Spina bifida, Short neck, Low posterior hairline, Congeni... |
ORPHA:2345 |
Wildervanck Syndrome |
|
Meningocele, Short neck, Webbed neck, Low posterior hairline |
ORPHA:3456 |
Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Short stature, Anenceph... |
ORPHA:1908 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... |
OMIM:611134 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Subependymal Nodular Heterotopia |
|
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele |
ORPHA:101030 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Nathalie Syndrome |
|
Short stature, Arrhythmia |
ORPHA:2663 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valv... |
ORPHA:453499 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy |
OMIM:207950 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Leukopenia, Anemia, Pancytopenia |
ORPHA:318 |
Schisis Association |
|
Spina bifida, Anencephaly, Encephalocele |
ORPHA:63862 |
Triploidy |
|
Meningocele, Abnormal cardiac septum morphology, Hydrocephalus, Holoprosencephaly, Short neck, In... |
ORPHA:3376 |
Diaphanospondylodysostosis |
|
Short neck, Myelomeningocele |
ORPHA:66637 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Caudal Duplication |
|
Spina bifida, Myelomeningocele |
ORPHA:1756 |
Meckel Syndrome, Type 2 |
|
Meningocele, Encephalocele, Anencephaly, Intrauterine growth retardation, Cystic hygroma |
OMIM:603194 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Bicuspid aortic valve, Abn... |
ORPHA:1120 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Vitamin K Antagonist Embryofetopathy |
|
Short neck, Hydrocephalus, Myelomeningocele, Intrauterine growth retardation |
ORPHA:1914 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Holoprosencephaly |
|
Spinal dysraphism, Encephalocele, Branchial anomaly, Ventricular septal defect, Hydrocephalus, Ho... |
ORPHA:2162 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida, Abnormality of dental eruption, Intrauterine growth retardation, Short stature |
ORPHA:1327 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta, Dextrocardia, Thickened nuch... |
ORPHA:2437 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Oligohydramnios, Arrhythmia, I... |
OMIM:617021 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Cardiomyopathy, Intrauterine growth retardation, Congestive heart failure, Arrhythmia |
OMIM:616198 |
Alg3-Cdg |
|
Cardiomyopathy, Neural tube defect |
ORPHA:79321 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Pulmonic stenosis, Short stature |
OMIM:620141 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Coronary Arterial Fistula |
|
Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat... |
ORPHA:2041 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Short stature, Spina bifida occulta, Anomalous pulmonary venous return, Short neck, ... |
ORPHA:2311 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... |
OMIM:615373 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Posterior Meningocele |
|
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Limitation of neck motion,... |
ORPHA:268810 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Short stature, Atrial septal defect, Growth delay,... |
ORPHA:261330 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Growth delay |
OMIM:614424 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida |
ORPHA:63260 |
Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Hydrocephalus, Low posterior ha... |
ORPHA:261337 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele |
ORPHA:60015 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Myelomeningocele, Webbed neck, Ventricular septal defect, Short stature, Spina bifid... |
ORPHA:1393 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abnorm... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abnorm... |
ORPHA:352665 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Interstitial cardiac fibrosis, Reduced left ventricular ejection fraction, ... |
OMIM:181350 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Short stature |
ORPHA:2031 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Broad neck, Short stature, Hydrocephalus, Spina bifida occulta, Short neck, Dex... |
OMIM:613686 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Fountain Syndrome |
|
Spina bifida occulta, Short stature, Spina bifida |
ORPHA:3219 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... |
ORPHA:45452 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Arrhythmia, Abnormal EKG |
OMIM:300376 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Short stature, Arrhythmia |
OMIM:618453 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... |
ORPHA:216694 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... |
OMIM:600858 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Phaver Syndrome |
|
Myelomeningocele, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:2876 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... |
OMIM:618052 |
Lateral Meningocele Syndrome |
|
Meningocele, Patent ductus arteriosus, Ventricular septal defect, Short stature, Bicuspid aortic ... |
OMIM:130720 |
Pelvis-Shoulder Dysplasia |
|
Mesomelic/rhizomelic limb shortening, Short stature, Spina bifida, Hydrocephalus, Hydranencephaly... |
ORPHA:2839 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Short neck, Intrauterine growth retardation |
OMIM:616038 |
Lateral Meningocele Syndrome |
|
Meningocele, Ventricular septal defect, Short neck, Low posterior hairline, Umbilical hernia |
ORPHA:2789 |
Mosaic Trisomy 9 |
|
Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Spina bifida, Abnormal heart va... |
ORPHA:99776 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Branchial fistula, Encephalocele |
ORPHA:861 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... |
ORPHA:1686 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Short stature, Mitral stenosis, Atrial septal defect, Hypoplastic left heart, ... |
OMIM:617660 |
Iniencephaly |
|
Spinal dysraphism, Encephalocele, Myelomeningocele, Rhizomelia, Spina bifida, Anencephaly, Hydroc... |
ORPHA:63259 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Hydrocephalus, Myelomeningocele, Aqueductal stenosis |
ORPHA:1136 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Right bundle branch block, T-wave inversion, Ventricular septal hypertro... |
ORPHA:263297 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... |
ORPHA:1041 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Spina bifida occulta, Mitral valve prolapse, Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:230839 |
Symmetrical Thalamic Calcifications |
|
Polyhydramnios, Arrhythmia |
ORPHA:1314 |
Partial Atrioventricular Septal Defect |
|
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... |
OMIM:611705 |
Sacral Defect With Anterior Meningocele |
|
Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract |
OMIM:600145 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Encephalocele |
ORPHA:1827 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Imperforate tricuspid valve, Patent ductus arteriosus, Right bundle branch ... |
ORPHA:1880 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... |
ORPHA:85451 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:300696 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertension, Congestive heart fail... |
OMIM:540000 |
Polyvalvular Heart Disease Syndrome |
|
Short stature, Mitral valve prolapse, Abnormal heart valve morphology, Arrhythmia, Aortic valve s... |
ORPHA:228410 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
8Q24.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Infancy onset short-trunk short stature,... |
ORPHA:508488 |
Limb Body Wall Complex |
|
Myelomeningocele, Encephalocele, Ventricular septal defect, Spina bifida, Short umbilical cord, A... |
ORPHA:2369 |
Trisomy 18 |
|
Webbed neck, Ventricular septal defect, Short stature, Spina bifida, Anencephaly, Atrial septal d... |
ORPHA:3380 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular functi... |
ORPHA:99103 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Spina bifida, Arrhinencephaly, Hydrocephalus, Intrauterine growth retardation |
ORPHA:3412 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal aortic valve morphology, Congestive heart failure, Oligohydramnios, Hypertrophic cardiom... |
ORPHA:1194 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Pulmonary edema, Postnatal growth retardation, Supraventricular ar... |
ORPHA:75249 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly, Atrioventricular block, Arrhythmia |
ORPHA:85447 |
Dystonia 23 |
|
Arrhythmia |
OMIM:614860 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short stature, Perimembranous ventricular septal defect, Paroxysmal supraventricular tachycardia,... |
OMIM:617877 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... |
ORPHA:34217 |
Tropical Endomyocardial Fibrosis |
|
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfun... |
ORPHA:75565 |
Pagod Syndrome |
|
Meningocele, Encephalocele, Short stature, Spina bifida, Hypoplastic left heart, Situs inversus t... |
ORPHA:991 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Hemochromatosis, Type 2A |
|
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia |
OMIM:602390 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Abnormal mitral valve morphology, Short stature, Bundle branch blo... |
ORPHA:500 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Pulmonary edema, Abnormal EKG,... |
ORPHA:330001 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Atrial septal defect, Situs inversus totalis, Arrhythmi... |
OMIM:249270 |
Lumbar Syndrome |
|
Spina bifida, Myelomeningocele |
ORPHA:83628 |
Lathosterolosis |
|
Meningocele, Intrauterine growth retardation |
ORPHA:46059 |
Trisomy 8Q |
|
Short neck, Myelomeningocele |
ORPHA:1752 |
Trisomy 20P |
|
Spina bifida, Short neck, Umbilical hernia, Low posterior hairline |
ORPHA:261318 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Hear... |
ORPHA:398124 |
Dk1-Cdg |
|
Interstitial cardiac fibrosis, Short stature, Dilated cardiomyopathy, Congestive heart failure, C... |
ORPHA:91131 |
Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Polyhydramnios, Patent ductus arteriosus, Cardiomegaly, Persiste... |
ORPHA:363705 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Patent forame... |
OMIM:306955 |
Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma |
OMIM:109400 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele |
OMIM:193500 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Cardiomyopathy, Arrhythmia |
OMIM:612999 |
Hec Syndrome |
|
Cardiomyopathy, Polyhydramnios, Communicating hydrocephalus, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertension, Oligohydramnios, Hypertrophic cardiomyopathy, Growth delay, Arrhythmia, Neonatal de... |
OMIM:614052 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal left ventricle morphology, Congestive heart failure, Arrhythmia, Abnorm... |
ORPHA:1055 |
Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia |
ORPHA:35 |
Nail-Patella Syndrome |
|
Spina bifida, Short stature |
OMIM:161200 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Palpitations, Peripheral edema, Abnormal P wave, Tricuspid regurgitation, ... |
ORPHA:99106 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Craniofacial Microsomia |
|
Patent ductus arteriosus, Branchial anomaly, Ventricular septal defect, Hydrocephalus, Occipital ... |
OMIM:164210 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Phocomelia, Schinzel Type |
|
Meningocele, Disproportionate short stature, Short neck, Intrauterine growth retardation |
ORPHA:2879 |
Focal Dermal Hypoplasia |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal cardiac septum morphology, Spina bi... |
ORPHA:2092 |
Congenital Hypothyroidism |
|
Hypotension, Abnormal pericardium morphology, Short stature, Hypertension, Palpebral edema, Arrhy... |
ORPHA:442 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Short stature, Redundant neck ... |
ORPHA:397715 |
Branchiooculofacial Syndrome |
|
Branchial anomaly, Short neck, Low posterior hairline, Intrauterine growth retardation, Postnatal... |
OMIM:113620 |
Cloacal Exstrophy |
|
Spina bifida, Myelomeningocele |
ORPHA:93929 |
Waardenburg Syndrome |
|
Myelomeningocele |
ORPHA:3440 |
Orofaciodigital Syndrome Vi |
|
Hypoplastic left heart, Arrhinencephaly, Occipital meningocele, Short stature |
OMIM:277170 |
Neu-Laxova Syndrome |
|
Spina bifida, Intrauterine growth retardation |
ORPHA:2671 |
Neurofibromatosis, Type I |
|
Spina bifida, Hydrocephalus, Aqueductal stenosis, Short stature |
OMIM:162200 |
Neu-Laxova Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Broad neck, Ventricular septal defect, Spina bifi... |
OMIM:256520 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Arrhythmia |
OMIM:606069 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem... |
ORPHA:99104 |
Jacobsen Syndrome |
|
Webbed neck, Ventricular septal defect, Short stature, Spina bifida, Hypoplastic left heart, Shor... |
ORPHA:2308 |
Hemochromatosis, Type 1 |
|
Telangiectasia, Congestive heart failure, Pleural effusion, Arrhythmia, Cardiomegaly, Ascites, Ca... |
OMIM:235200 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Hypertension, Arrhythmia |
ORPHA:3222 |
Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Short stature, Membranous subvalvular aortic stenosis, Arrhythmia |
ORPHA:3191 |
Polymyositis |
|
Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Congestive heart failure,... |
ORPHA:732 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... |
ORPHA:508498 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... |
ORPHA:542306 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Atrioventricular canal defect, Torticollis, Patent ductus arteriosus |
OMIM:619480 |
Noonan Syndrome 5 |
|
Polyhydramnios, Short stature, Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pul... |
OMIM:611553 |
Fabry Disease |
|
Lymphedema, Transient ischemic attack, Left ventricular hypertrophy, Congestive heart failure, An... |
OMIM:301500 |
Rheumatic Fever |
|
Endocarditis, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Pericarditis, E... |
ORPHA:3099 |
Al Amyloidosis |
|
Reduced left ventricular ejection fraction, Abnormal EKG, Monoclonal light chain cardiac amyloido... |
ORPHA:85443 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Arrhythmia |
ORPHA:1808 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... |
ORPHA:26793 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Arrhythmia |
OMIM:310095 |
American Trypanosomiasis |
|
Congestive heart failure, Arrhythmia, Edema, Periorbital edema, Myocarditis, Cardiomyopathy |
ORPHA:3386 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia |
ORPHA:157973 |
Fanconi Anemia |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Short stature, Spina bifida, Hydroc... |
ORPHA:84 |
Vater/Vacterl Association |
|
Patent ductus arteriosus, Ventricular septal defect, Spina bifida, Patent urachus, Occipital ence... |
OMIM:192350 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Patent ductus arteriosus, Ventricular septal defect, Truncus arteriosus, Short statu... |
ORPHA:567 |
Chromosome 2Q37 Deletion Syndrome |
|
Subvalvular aortic stenosis, Short stature, Arrhythmia |
OMIM:600430 |
Infantile Refsum Disease |
|
Cardiomyopathy, Short stature, Arrhythmia |
ORPHA:772 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Arrhythmia |
OMIM:615084 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Proportionate short stature, Natal tooth |
OMIM:234100 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly, Congestive heart failure, Arrhythmia |
OMIM:266500 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Pedal edema, Pulmonary edema, Pericarditis, Pleural effusion, Arrhythmia, Myocarditis |
ORPHA:188 |
Barth Syndrome |
|
Endocardial fibroelastosis, Congestive heart failure, Increased left ventricular end-diastolic vo... |
OMIM:302060 |
Holoprosencephaly 7 |
|
Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly, Ho... |
OMIM:610828 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Arrhythmia |
ORPHA:2928 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Heart murmur, Hypertension, Abnormal left ventricular functio... |
ORPHA:437572 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:156 |
Witteveen-Kolk Syndrome |
|
Growth delay, Branchial fistula, Intrauterine growth retardation, Short stature |
OMIM:613406 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Wild Type Abeta2M Amyloidosis |
|
Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:85446 |
Thrombocytopenia-Absent Radius Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Short stature... |
OMIM:274000 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Aortic regurgitation, Mitral regurgitation, Arrh... |
ORPHA:254346 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Bradycardia, Arrhythmia |
OMIM:609286 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Arrhythmia |
OMIM:616516 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Arrhythmia |
ORPHA:352447 |
Campomelic Dysplasia |
|
Spinal dysraphism, Spina bifida, Hydrocephalus, Disproportionate short-limb short stature, Abnorm... |
OMIM:114290 |
Split Cord Malformation |
|
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele |
ORPHA:573278 |
Semilobar Holoprosencephaly |
|
Short stature, Neural tube defect, Hydrocephalus, Growth delay, Abnormal heart morphology |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Short stature, Neural tube defect, Hydrocephalus, Growth delay, Abnormal heart morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Neural tube defect, Hydrocephalus, Growth delay, Abnormal heart morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Neural tube defect, Hydrocephalus, Growth delay, Abnormal heart morphology |
ORPHA:93924 |
Aicardi Syndrome |
|
Spina bifida, Postnatal growth retardation |
OMIM:304050 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Arrhythmia |
ORPHA:42 |
Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:96 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Hydrocephalus, Atrial septal defe... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Hydrocephalus, Atrial septal defe... |
ORPHA:363958 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Arrhythmia |
ORPHA:99944 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Pulmonary edema, Heart block, Pleural ef... |
ORPHA:542323 |
Liddle Syndrome |
|
Hypertension, Cerebral ischemia, Arrhythmia |
ORPHA:526 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy |
OMIM:310200 |
Exstrophy-Epispadias Complex |
|
Spina bifida, Hydrocephalus, Abnormal heart morphology |
ORPHA:322 |
Knobloch Syndrome 1 |
|
Spina bifida occulta, Occipital encephalocele, Occipital meningocele, Patent ductus arteriosus |
OMIM:267750 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Growth delay, Arrhythmia |
ORPHA:168593 |
Thrombotic Thrombocytopenic Purpura |
|
Myocardial infarction, Arrhythmia |
ORPHA:54057 |
Marfan Syndrome |
|
Meningocele, Mitral valve prolapse, Mitral valve calcification |
ORPHA:558 |
Ogden Syndrome |
|
Cardiogenic shock, Ventricular septal defect, Postnatal growth retardation, Arrhythmia |
ORPHA:276432 |
Arima Syndrome |
|
Occipital meningocele, Growth delay |
OMIM:243910 |
Ogden Syndrome |
|
Torsade de pointes, Secundum atrial septal defect, Premature atrial contractions, Postnatal growt... |
OMIM:300855 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Arrhythmia |
OMIM:255120 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Elevated jugular venous pressure, Congestive heart failure, Joint swelling, Arrhythmia, Cardiomeg... |
ORPHA:465508 |
Kearns-Sayre Syndrome |
|
Cardiomyopathy, Third degree atrioventricular block, Short stature, Arrhythmia |
OMIM:530000 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Patent foramen ovale, Atrial septal defect, Arrhythmia, Intrauterine growth retardation, Postnata... |
OMIM:619184 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Mildly reduced left ventricular ejection fraction, Arrhythmia |
OMIM:618098 |
Fabry Disease |
|
Mucosal telangiectasiae, Short stature, Lymphedema, Transient ischemic attack, Bundle branch bloc... |
ORPHA:324 |
Mucopolysaccharidosis Type 2 |
|
Abnormal mitral valve morphology, Short stature, Communicating hydrocephalus, Hypertension, Abnor... |
ORPHA:580 |
Typhoid |
|
Epistaxis, Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:99745 |
Otopalatodigital Syndrome, Type Ii |
|
Short stature, Spina bifida, Hydrocephalus, Atrial septal defect, Short neck, Stillbirth, Umbilic... |
OMIM:304120 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Edema, Intracranial hemorrhage, Arrhythmia |
ORPHA:624 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Lymphedema, Predominantly lower limb lymphed... |
OMIM:153400 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Cardiomyopathy, Ventricular hypertrophy, Arrhythmia |
ORPHA:228305 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia |
ORPHA:29822 |
Rubinstein-Taybi Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Short stature, Perimem... |
OMIM:180849 |
Heart-Hand Syndrome Type 2 |
|
Arrhythmia |
ORPHA:1350 |
Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis, Aortic valve calcification, Short stature, Arrhythmia |
OMIM:616298 |
Acquired Methemoglobinemia |
|
Syncope, Palpitations, Tachycardia, Arrhythmia |
ORPHA:464453 |
Non-Syndromic Anorectal Malformation |
|
Myelomeningocele |
ORPHA:557 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Dilated cardiomyopathy, Hydrops fetalis, Congestive heart failure, Arrhythmia |
OMIM:609015 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia |
OMIM:616949 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Abnormal heart morphology, Congestive heart failure, Arrhythmia |
ORPHA:26791 |
Legionnaires Disease |
|
Hypotension, Endocarditis, Pericarditis, Arrhythmia, Myocarditis |
ORPHA:549 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arrhythmia |
ORPHA:60040 |
Lyme Disease |
|
Joint swelling, Atrioventricular block, Arrhythmia |
ORPHA:91546 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Left ventricular hypertrophy, Congestive heart failure, Mitral regurgita... |
ORPHA:746 |
Scorpion Envenomation |
|
Pulmonary edema, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST s... |
ORPHA:466677 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Reflex asystolic syncope, A... |
ORPHA:79329 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Heart block, Arrhythmia, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy |
ORPHA:228308 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiomyopathy, Ventricular tachycardia, Arrhythmia |
ORPHA:159 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Neural tube defect, Short neck, Abnormal heart morphology, Umbilical h... |
ORPHA:798 |
Ileal Neuroendocrine Tumor |
|
Hypotension, Arterial occlusion, Cardiogenic shock, Arrhythmia, Edema, Right ventricular failure,... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Hypotension, Arterial occlusion, Cardiogenic shock, Arrhythmia, Edema, Right ventricular failure,... |
ORPHA:100077 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Predominantly lower limb lymphedema, Arrhythmia |
ORPHA:33001 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Dehydration, Proportionate short stature, Hypovolemic shock, Arrhythmia |
ORPHA:171876 |
Giant Cell Arteritis |
|
Sudden cardiac death, Cerebral ischemia, Epistaxis, Pericarditis, Arrhythmia, Double outlet right... |
ORPHA:397 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal mitral valve morphology, Heart murmur, Short stature, Hypertension, Abnormal pulmonary v... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal mitral valve morphology, Heart murmur, Short stature, Hypertension, Abnormal pulmonary v... |
ORPHA:217093 |
Microscopic Polyangiitis |
|
Congestive heart failure, Pericarditis, Epistaxis, Gastrointestinal hemorrhage, Arrhythmia, Vascu... |
ORPHA:727 |
Oculodentodigital Dysplasia |
|
Ventricular septal defect, Umbilical hernia, Arrhythmia |
ORPHA:2710 |
Juvenile Dermatomyositis |
|
Mucosal telangiectasiae, Bundle branch block, Telangiectasia of the skin, Vasculitis, Angina pect... |
ORPHA:93672 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Growth delay, Arrhythmia |
OMIM:615471 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Oligohydramnios, Arrhythmia, Cardiome... |
OMIM:608836 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Short stature, Hydrocephalus, Atrial sept... |
OMIM:309801 |
Oeis Complex |
|
Hydrocephalus, Myelomeningocele |
OMIM:258040 |
Agel Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Blepharochalasis, Edema, Xerostomia, Arrhyt... |
ORPHA:85448 |
Specc1L-Related Hypertelorism Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Arrhythmia, Tetralogy ... |
ORPHA:1519 |
Colchicine Poisoning |
|
Hypotension, Hypovolemia, Cardiogenic shock, Congestive heart failure, Arrhythmia, Dehydration, M... |
ORPHA:31824 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short stature, Arrhythmia |
ORPHA:3201 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Left ventricular hypertrophy,... |
ORPHA:254892 |
Kleefstra Syndrome |
|
Ventricular septal defect, Short stature, Bicuspid aortic valve, Arrhythmia, Tetralogy of Fallot |
ORPHA:261494 |
Duodenal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Arrhythmia, Edema, Right ventricular failure, Palpitations, Tricu... |
ORPHA:100076 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Hydrocephalus, Arrhythmia |
ORPHA:157 |
16P11.2P12.2 Microdeletion Syndrome |
|
Arrhythmia, Intrauterine growth retardation, Short stature, Tricuspid regurgitation |
ORPHA:261211 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Angina pectoris, Abnormal cardiomyocyte morphology, Low-output congesti... |
ORPHA:565612 |
Familial Isolated Hypoparathyroidism |
|
Short stature, Arrhythmia |
ORPHA:2238 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Delayed puberty, Growth delay, Arrhythmia, High-output congestive heart f... |
ORPHA:231226 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Growth delay, Arrhythmia |
ORPHA:57 |
Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Arrhythmia |
ORPHA:98375 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Left bundle branch block, Ventricular bigeminy, Arrhythmia |
OMIM:610131 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Hyperkalemic Periodic Paralysis |
|
Congestive heart failure, Arrhythmia |
ORPHA:682 |
Ulnar-Mammary Syndrome |
|
Delayed puberty, Ventricular septal defect, Short stature, Arrhythmia |
ORPHA:3138 |
Mastocytosis |
|
Hypotension, Arrhythmia, Gastrointestinal hemorrhage, Telangiectasia of the skin, Angioedema |
ORPHA:98292 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Disproportionate short stature, Occipital meningocele, Short neck, Broad neck |
OMIM:276820 |
Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Dehydration, Cardiomyopathy |
ORPHA:2131 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Delayed puberty, Growth delay, Arrhythmia, High-output congestive heart f... |
ORPHA:231214 |
Dermatomyositis |
|
Pulmonary arterial hypertension, Sinus tachycardia, Telangiectasia of the skin, Periorbital edema... |
ORPHA:221 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pulmonary arterial hypertension, Cerebral edema, Reduced left ventricular ejection fraction, Arrh... |
ORPHA:258 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal cardiac septum morphology, Mitral valve prolapse, Hydrocephalus, Dilated cardiomyopathy,... |
ORPHA:2556 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Rhizomelic arm shortening, Disproportionate short stature, Atrioventricular block, Arrhythmia, My... |
ORPHA:93317 |
Schwartz-Jampel Syndrome |
|
Pulmonary arterial hypertension, Polyhydramnios, Short stature, Arrhythmia, Umbilical hernia |
ORPHA:800 |
Von Hippel-Lindau Disease |
|
Macular edema, Hypertension, Myocardial infarction, Abnormal left ventricular function, Palpitati... |
ORPHA:892 |
Botulism |
|
Xerostomia, Arrhythmia |
ORPHA:1267 |
Hennekam-Beemer Syndrome |
|
Hypotension, Telangiectasia of the skin, Short stature, Arrhythmia |
ORPHA:2135 |
Kawasaki Disease |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:2331 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Hypertension, Hypertensive crisis, Arrhythmia, Dehydration, Brad... |
ORPHA:94093 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Arrhythmia |
OMIM:273400 |
Foodborne Botulism |
|
Xerostomia, Arrhythmia |
ORPHA:228371 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Arrhythmia, Prolonged QT interval, Abnormal EKG |
ORPHA:480864 |
Familial Mediterranean Fever |
|
Pedal edema, Pericarditis, Myocardial infarction, Arrhythmia, Ascites, Vasculitis |
ORPHA:342 |
Noonan Syndrome |
|
Lymphedema, Abnormal pulmonary valve morphology, Short stature, Arrhythmia |
ORPHA:648 |
Granulomatosis With Polyangiitis |
|
Cerebral ischemia, Angina pectoris, Hypertension, Periorbital edema, Pericarditis, Epistaxis, Gas... |
ORPHA:900 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Short stature, Arrhythmia |
OMIM:171480 |
Costello Syndrome |
|
Polyhydramnios, Ventricular septal defect, Short stature, Mitral valve prolapse, Hydrocephalus, A... |
OMIM:218040 |
African Trypanosomiasis |
|
Third degree atrioventricular block, Abnormal EKG, Congestive heart failure, Pericarditis, Myelop... |
ORPHA:3385 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Short stature, Arrhythmia |
ORPHA:3220 |
Carney Triad |
|
Hypertension, Gastrointestinal hemorrhage, Arrhythmia, Ascites, Tachycardia |
ORPHA:139411 |
Localized Scleroderma |
|
Vasculitis, Raynaud phenomenon, Arrhythmia |
ORPHA:90289 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Transposition of the great a... |
OMIM:312870 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Arrhythmia |
ORPHA:2878 |
Cockayne Syndrome B |
|
Normal pressure hydrocephalus, Hypertension, Severe short stature, Arrhythmia, Intrauterine growt... |
OMIM:133540 |
Genetic Recurrent Myoglobinuria |
|
Arrhythmia |
ORPHA:99845 |
Cockayne Syndrome A |
|
Normal pressure hydrocephalus, Short stature, Hypertension, Arrhythmia, Intrauterine growth retar... |
OMIM:216400 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Arrhythmia |
OMIM:164200 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Intracranial hemorrhage, Internal hemorrhage, Epistaxis, Arrhythmia, Hemate... |
ORPHA:906 |
Amoebiasis Due To Free-Living Amoebae |
|
Cerebral edema, Myocardial necrosis, Arrhythmia |
ORPHA:68 |
Leber Optic Atrophy |
|
Arrhythmia |
OMIM:535000 |
Ivic Syndrome |
|
Severe short stature, Arrhythmia |
ORPHA:2307 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Rhizomelia, Atrial septal defect, Disproportionate short stature, Arrhythmia, Myocarditis |
OMIM:250220 |
Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Pericarditis, Pleural effusion, Arrhythmia... |
ORPHA:509 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Short stature, Congestive heart failure, Growth delay, Arrhythmia, Cardiomegaly |
OMIM:256040 |
Autosomal Dominant Hypocalcemia |
|
Hypotension, Congestive heart failure, Arrhythmia |
ORPHA:428 |
Plague |
|
Hypotension, Endocarditis, Edema, Arrhythmia, Hematemesis, Tachycardia |
ORPHA:707 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Arrhythmia |
OMIM:106300 |
Stickler Syndrome |
|
Mitral valve prolapse, Short stature, Arrhythmia |
ORPHA:828 |
Hypermobile Ehlers-Danlos Syndrome |
|
Umbilical hernia, Arrhythmia |
ORPHA:285 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Heart block, Pleural effusion, Ventricular tachycardia, Ch... |
ORPHA:797 |
Ulnar-Mammary Syndrome |
|
Delayed puberty, Ventricular septal defect, Arrhythmia |
OMIM:181450 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Arrhythmia |
ORPHA:163746 |