Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Congenital Heart Block |
|
First degree atrioventricular block, Atrioventricular block, Hydrops fetalis, Vaginal birth after... |
ORPHA:60041 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Intraut... |
OMIM:616276 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Abnormal heart morphology, Abnormal placenta mor... |
ORPHA:439167 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... |
OMIM:601419 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... |
OMIM:614702 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardi... |
OMIM:618815 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Congestive heart failure, Bradycardia, Left ventricular hypertrophy, Int... |
OMIM:619048 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Bradycardia, Neonatal death, Weakness of facial m... |
OMIM:620265 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Umbilical hernia, Facial edema, Bradycardia |
ORPHA:95717 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... |
ORPHA:2414 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion, Anhydramnios |
OMIM:613885 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... |
OMIM:239850 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... |
OMIM:614302 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho... |
ORPHA:254534 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Intrauterine growth retardation, Decreased level of coenzyme Q10 in... |
OMIM:614654 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Decreased fetal movement, Bradycardia |
ORPHA:2898 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... |
OMIM:618775 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Prena... |
ORPHA:45453 |
Aminoacylase 1 Deficiency |
|
Breech presentation, Bradycardia |
OMIM:609924 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... |
ORPHA:26793 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural effusion, Bra... |
ORPHA:330001 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Intrauterine growth retardation, Severe intrauterine growth retardation, Small placenta |
ORPHA:73272 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Intrauterine growth retardation, Small placenta, Oligohydramnios |
ORPHA:397590 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... |
OMIM:212138 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Decreased fetal movement, Polyhydramn... |
OMIM:620351 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary... |
ORPHA:555874 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Umbilical hernia, Facial edema, Bradycardia |
ORPHA:95716 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura... |
OMIM:617397 |
Congenital Disorder Of Glycosylation, Type Il |
|
Decreased fetal movement, Edema, Pericardial effusion, Abnormal cardiac septum morphology, Ascites |
OMIM:608776 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... |
ORPHA:292 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... |
OMIM:252011 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... |
OMIM:609286 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Premature birth, Cardiac arrest, Bradycardia, Hypotension, Pulmonary edema |
ORPHA:70587 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Umbilical hernia, Bradycardia |
ORPHA:226313 |
Cln3 Disease |
|
Left ventricular hypertrophy, T-wave inversion, Bradycardia |
ORPHA:228346 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal left ventricu... |
ORPHA:2041 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Spinal Muscular Atrophy, Type I |
|
Decreased fetal movement, Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy... |
OMIM:253300 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence, Breech presentation, Arthrogr... |
OMIM:615731 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Decreased fetal movement, Premature birth, Elbow contract... |
OMIM:208150 |
Eng-Strom Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect, C... |
ORPHA:1937 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Decreased fetal movement, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular sep... |
OMIM:620070 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Ventricular septal defect, Spina bifida, Polyhydramnios, Fetal akinesia... |
OMIM:256520 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... |
OMIM:617912 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis, Hyp... |
OMIM:615779 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Small thenar eminence, Camptodact... |
OMIM:211960 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Abnormality of prenatal development or birth, Sinus bradycardia, Syncope, T... |
ORPHA:101016 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... |
OMIM:614980 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Cardiac-Urogenital Syndrome |
|
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Acitretin/Etretinate Embryopathy |
|
Premature birth, Conotruncal defect, Third degree atrioventricular block, Bradycardia, Atrioventr... |
ORPHA:40366 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Necrotizing Enterocolitis |
|
Shock, Premature birth, Edema, Abnormal heart morphology, Bradycardia, Hypotension, Ascites |
ORPHA:391673 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect, Pedal edema, Sinus bradycardia |
OMIM:126320 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A... |
ORPHA:860 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Small vessel... |
ORPHA:36412 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Flexion contracture, Bradycardia, Camptodactyly |
OMIM:610015 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Joint contracture of the 5th finger, Bradycardia, Atrioventricular block |
OMIM:614407 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Hypertension, Lower limb hyperton... |
OMIM:619487 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy |
OMIM:620089 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... |
ORPHA:563 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Decreased fetal movement, Multiple joint contractures, Quadriceps muscle... |
ORPHA:70 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe... |
ORPHA:199241 |
Restrictive Dermopathy |
|
Decreased fetal movement, Multiple joint contractures, Premature birth, Dextrocardia, Camptodacty... |
ORPHA:1662 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Bradycardia, Limb hypertonia |
OMIM:614498 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Decreased fetal movement, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventricular noncompac... |
OMIM:619167 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Breech presentation, Flexion contracture, Retinal hemorrh... |
OMIM:614653 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Pa... |
ORPHA:1120 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Hematochezia, Coloboma, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Edema, Raynaud phenomenon, Pericardial effusion, Pleural effusion, Ascites |
ORPHA:93552 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Umbilical hernia, Bradycardia, Edema |
ORPHA:90673 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Alkuraya-Kucinskas Syndrome |
|
Edema, Pericardial effusion, Hydrocephalus, Camptodactyly, Arthrogryposis multiplex congenita, Pl... |
OMIM:617822 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Premature birth, Large placenta, Patent ductus arteriosus, Abnormal he... |
ORPHA:1708 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Coloboma, Single umbilic... |
OMIM:220210 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Polyhydramnios, Large placenta, Flexion contracture, Macroglossia, Camptodactyly... |
ORPHA:254528 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Mitral regurgitation |
ORPHA:83473 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Abnormal myocardium morphology, Pedal edema, Pulmonary arterial hypertensio... |
ORPHA:77259 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... |
ORPHA:49827 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Colob... |
OMIM:618652 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contracture, Cardio... |
OMIM:212065 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Pericardial effusio... |
ORPHA:99827 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy |
OMIM:619272 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... |
OMIM:613327 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Large placenta, Abnormalities of... |
OMIM:222470 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage, Co... |
OMIM:614424 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1388 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Coloboma, Ventricular septal defect, Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Poems Syndrome |
|
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites |
ORPHA:2905 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Intrauterine growth retardation, Bradycardia, Congenital foot contractures, Limb hypertonia |
ORPHA:565624 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... |
OMIM:615355 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... |
OMIM:601927 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Decreased fetal movement, Torticollis, Tricuspid regurgitation, Ventr... |
ORPHA:79328 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Umbilical hernia, Hypertrophi... |
OMIM:612938 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Vasculitis, End... |
ORPHA:781 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrhage, Pleural effusion |
ORPHA:464329 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis |
OMIM:618624 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroglossia, Umbilical hernia, Facial edema, Bradycardia |
ORPHA:90674 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Coloboma, Single umbi... |
ORPHA:329224 |
Lujo Hemorrhagic Fever |
|
Shock, Facial edema, Myocarditis, Periorbital edema, Subconjunctival hemorrhage, Bradycardia, Hyp... |
ORPHA:319213 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
D-Glyceric Aciduria |
|
Patent ductus arteriosus, Bradycardia |
OMIM:220120 |
Humero-Radial Synostosis |
|
Meningocele, Iris coloboma, Chorioretinal coloboma |
ORPHA:3265 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Cardiomegaly, Third he... |
ORPHA:1329 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Decreased fetal movement, Ventricular septal defect, Edema, Polyhydramni... |
OMIM:607598 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia |
OMIM:249270 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Iris coloboma, Congenital diaphragmatic hernia |
ORPHA:2143 |
Aicardi-Goutieres Syndrome 7 |
|
Edema, Hematemesis, Pericardial effusion, Vasculitis, Oligohydramnios, Hematochezia, Hypertension... |
OMIM:615846 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Abnormal myoca... |
ORPHA:77261 |
Triploidy |
|
Polyhydramnios, Hydrocephalus, Meningocele, Macroglossia, Abnormal cardiac septum morphology, Hol... |
ORPHA:3376 |
Sepsis In Premature Infants |
|
Tachycardia, Premature birth, Edema, Bradycardia, Hypotension, Caesarian section |
ORPHA:90051 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Schisis Association |
|
Encephalocele, Premature birth, Congenital diaphragmatic hernia, Spina bifida, Anencephaly |
ORPHA:63862 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Decreased fetal movement, Myopathy, Ventricular septal defect, Increased variability in muscle fi... |
OMIM:616816 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Umbilical hernia, Ech... |
OMIM:617751 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, U... |
OMIM:615879 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Umbilical hernia, Mitral valve prolapse |
ORPHA:536532 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Coloboma, Congenital contrac... |
ORPHA:97297 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Coloboma, Intrauterine growth retardation, Truncus art... |
OMIM:615583 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Rhabdomyolysis, Low-to-normal bl... |
ORPHA:358 |
Aymé-Gripp Syndrome |
|
Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Hydrocephalus, Patent ductus... |
ORPHA:1272 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... |
OMIM:139210 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Camptodactyly, Intrauterine growth retardation |
OMIM:614815 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... |
ORPHA:284169 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Spina bifida, Raynaud phenomenon, Lymphedema, Coloboma, Arrhythmia |
ORPHA:2874 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dehydration, Hypertension, Bradycardia, Hypotens... |
ORPHA:94093 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... |
OMIM:179613 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... |
ORPHA:2369 |
Diabetic Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, S... |
ORPHA:1926 |
Emanuel Syndrome |
|
Thickened nuchal skin fold, Decreased fetal movement, Torticollis, Truncus arteriosus, Ventricula... |
OMIM:609029 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Camptodactyly of finger, Large placenta, Hydrocephalus, Patent ductus ar... |
OMIM:249000 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Atrial septa... |
ORPHA:97214 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis |
ORPHA:3449 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:615524 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Macroglossia,... |
OMIM:615668 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Alg3-Cdg |
|
Macroglossia, Neural tube defect, Arthrogryposis multiplex congenita, Cardiomyopathy |
ORPHA:79321 |
Kagami-Ogata Syndrome |
|
Large placenta, Premature birth, Diastasis recti, Polyhydramnios |
ORPHA:254519 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weakness |
OMIM:207950 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... |
OMIM:616897 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele, Chorioretinal coloboma |
ORPHA:2481 |
Muscle-Eye-Brain Disease |
|
Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Single umbilical artery, Intrauterine growth retardation, Ventricular septal defect, Hypoplastic ... |
ORPHA:2772 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect, Premature birth, Intrau... |
OMIM:616651 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Limb joint contracture, Prematur... |
OMIM:275210 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Telangiectasia, Atrial septal... |
OMIM:612582 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Hydrocephalus, Tetralogy of Fallot, ... |
ORPHA:7 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Thickened nuchal skin fold, Dextrocardia, Spina bifida, Myel... |
ORPHA:2437 |
Wildervanck Syndrome |
|
Meningocele, Facial palsy |
ORPHA:3456 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Premature birth, Polyhydramnios, Pulmonic stenosis, Atrial septal defe... |
OMIM:615102 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
Scimitar Syndrome |
|
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr... |
ORPHA:185 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Pleural effusion, Epistaxis, Edema |
ORPHA:167 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Abnormal heart morphology, Macroglossia, Arthrogryposis-like hand anom... |
ORPHA:369891 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Umbilical hernia, Bradycardia |
OMIM:218700 |
Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... |
OMIM:215140 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Sinus bradycardia, Congenital contracture, Intrauterine growth retardation, ... |
OMIM:618397 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Camptodac... |
ORPHA:99776 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:1488 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites |
ORPHA:538 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Scapular winging, Camptodactyly of finger, Spina bifida |
ORPHA:1327 |
Pelger-Huet Anomaly |
|
Umbilical hernia, Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness |
OMIM:169400 |
Emanuel Syndrome |
|
Decreased fetal movement, Multiple joint contractures, Truncus arteriosus, Ventricular septal def... |
ORPHA:96170 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Anomalous pulmonary venous... |
ORPHA:2311 |
King-Denborough Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Centrally nucleated skeletal muscle fibers, ... |
OMIM:619542 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Macroglossia, Umbilical hernia, Facial edema, Bradycardia |
ORPHA:226307 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... |
ORPHA:3426 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Hennekam Syndrome |
|
Camptodactyly of finger, Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax, Ascites |
ORPHA:2136 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis recti, Polyhydr... |
ORPHA:96334 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr... |
OMIM:306955 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612946 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po... |
ORPHA:51608 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension |
OMIM:616589 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... |
ORPHA:137675 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ... |
OMIM:600001 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Atrial septal defec... |
OMIM:618142 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Anophthalmia Plus Syndrome |
|
Iris coloboma, Spina bifida |
ORPHA:1104 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Spina bifida |
ORPHA:957 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Premature birth, Patent ductus arteri... |
OMIM:608149 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Joint contracture of th... |
OMIM:201000 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat... |
ORPHA:1335 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Meningoce... |
OMIM:130720 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect, Iris coloboma |
ORPHA:2789 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucen... |
OMIM:618870 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypovolemia, Dehydration, Capillary leak, Subconjunctival hemor... |
ORPHA:99826 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Single umbilical artery, Ventricular septal defect, Premature birth, Polyhydramnios |
ORPHA:2256 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Ventricular septal defect, Spina bifida, Congenital diaphragmatic her... |
ORPHA:2092 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Intrau... |
OMIM:606003 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Pagod Syndrome |
|
Encephalocele, Sudden cardiac death, Spina bifida, Situs inversus totalis, Congenital diaphragmat... |
ORPHA:991 |
Beckwith-Wiedemann Syndrome |
|
Premature birth, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma... |
ORPHA:116 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... |
ORPHA:3405 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventricular septal defect |
OMIM:602501 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Mitr... |
OMIM:603387 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Dysplastic aortic valve, Congestive he... |
OMIM:601808 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept... |
ORPHA:290 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin... |
ORPHA:1913 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... |
OMIM:264480 |
Phaver Syndrome |
|
Intrauterine growth retardation, Myelomeningocele, Ventricular septal defect, Camptodactyly of fi... |
ORPHA:2876 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... |
OMIM:121050 |
Filippi Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:272440 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Semilobar holoprosencephaly |
OMIM:245552 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Single umbilical artery, Intrauterine growth retardation, Increased nuchal translucency, Ventricu... |
OMIM:617635 |
Trisomy 13 |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Atrial septal defect, Intra... |
ORPHA:3378 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Intr... |
ORPHA:254346 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:1166 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:401935 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia... |
ORPHA:3380 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ... |
ORPHA:2255 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios |
ORPHA:139466 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Single umbilical artery, Patent... |
OMIM:618027 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intraute... |
ORPHA:1393 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ... |
OMIM:212093 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterios... |
OMIM:616564 |
Craniorachischisis |
|
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... |
ORPHA:63260 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1770 |
Prune Belly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A... |
ORPHA:2970 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect... |
OMIM:618316 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal... |
ORPHA:508498 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
Alagille Syndrome |
|
Telangiectasia of the skin, Ventricular septal defect, Hypertension, Atrial septal defect, Intrau... |
ORPHA:52 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Spina bifida, Hydrocephalus, Retinal coloboma, Hydranencephaly, Iris col... |
ORPHA:2839 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Intrauterine ... |
OMIM:619909 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Intrauterine growth retardation, Flexion contracture, Ventricular septal defect, Low APGAR score |
ORPHA:79243 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios |
OMIM:263630 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical ... |
OMIM:222448 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Costello Syndrome |
|
Thickened nuchal skin fold, Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Mac... |
ORPHA:3071 |
Fountain Syndrome |
|
Facial edema, Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Chorioretinal coloboma, Intrauterine growth... |
ORPHA:494344 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa... |
OMIM:618494 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Atrial septal ... |
OMIM:614576 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... |
OMIM:608978 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect |
OMIM:218350 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Oligohydramnios, Dehydration, ... |
ORPHA:96191 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Retinal coloboma, A... |
OMIM:244300 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... |
OMIM:109730 |
Trisomy 1Q |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:261344 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect |
OMIM:613730 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... |
OMIM:614921 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Patent... |
OMIM:605275 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Premature birth, Congestive heart failure, Pa... |
ORPHA:354 |
Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... |
ORPHA:1425 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defect, Intrauterine grow... |
OMIM:617360 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Holoprosencephaly, Iris coloboma |
ORPHA:77298 |
Ogden Syndrome |
|
Cardiogenic shock, Arrhythmia, Ventricular septal defect, Torticollis |
ORPHA:276432 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia, Oligohydramnios |
OMIM:614437 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
19P13.3 Microduplication Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Pulmonary arterial hypertension |
ORPHA:447980 |
Microphthalmia, Syndromic 9 |
|
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia, Patent duc... |
OMIM:601186 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Chorioretinal coloboma |
ORPHA:2031 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Polyhydramnios, Abnormal left ventricular function, Pulmonic stenosis,... |
OMIM:301056 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Retinal coloboma, Tetralogy of Fallot, Iris ... |
ORPHA:2328 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Edema, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus, Anence... |
OMIM:269860 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Ret... |
OMIM:616546 |
Chromosome 17P13.1 Deletion Syndrome |
|
Decreased fetal movement, Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion co... |
OMIM:613776 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal death, Patent ductus arteriosus, Bradycardia |
OMIM:617248 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Neu-Laxova Syndrome 2 |
|
Decreased fetal movement, Polyhydramnios, Spina bifida, Edema, Intrauterine growth retardation |
OMIM:616038 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... |
OMIM:309801 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia, Occipital meni... |
ORPHA:268810 |
Iniencephaly |
|
Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Polyhydramnios, Myelomeningocele, H... |
ORPHA:63259 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia |
OMIM:617450 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:610733 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion |
OMIM:181000 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Bradycardia, Edema, Dehydration |
ORPHA:79404 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect |
OMIM:620210 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra... |
ORPHA:2162 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly |
OMIM:301039 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc... |
OMIM:617478 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... |
ORPHA:435638 |
Amish Lethal Microcephaly |
|
Decreased fetal movement, Spina bifida, Limb hypertonia |
ORPHA:99742 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect, Arthrogryposis mul... |
OMIM:208085 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:85202 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Neonatal death, Atrial septal defe... |
OMIM:265380 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Yellow Fever |
|
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... |
ORPHA:99829 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:618348 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, ... |
OMIM:617022 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept... |
ORPHA:2519 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618950 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypomimic face |
OMIM:608572 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Thickened nuchal skin fold, Patent ductus arteriosus, Ventricular septal de... |
OMIM:220500 |
Methimazole Embryofetopathy |
|
Intrauterine growth retardation, Ventricular septal defect, Polyhydramnios |
ORPHA:1923 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Single umbilical artery, Intr... |
OMIM:300514 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect, Iris coloboma |
ORPHA:52055 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... |
ORPHA:3384 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... |
OMIM:158170 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricular tachy... |
OMIM:300855 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Intrauterine growth retardation, Flexion contracture, Ventricular septal de... |
OMIM:617452 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Prem... |
ORPHA:261330 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... |
OMIM:608328 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Optic disc ... |
OMIM:618454 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Premature birth, Polyhydramnios, Hydrocephalus, Fetal pericardial effu... |
OMIM:219730 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Warsaw Breakage Syndrome |
|
Intrauterine growth retardation, Optic disc coloboma, Ventricular septal defect, Tetralogy of Fallot |
OMIM:613398 |
Distal Deletion 19P |
|
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... |
ORPHA:79329 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di... |
ORPHA:477817 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventricular septal defect |
OMIM:615630 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Flexion contracture, Ventricular septal defect |
OMIM:147800 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Heart murmur |
ORPHA:166035 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Limb joint contracture, Ventricular septal... |
ORPHA:505237 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
OMIM:619657 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Duane-Radial Ray Syndrome |
|
Upper limb muscle hypoplasia, Ventricular septal defect, Facial palsy, Small thenar eminence, Pec... |
OMIM:607323 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Spin... |
ORPHA:567 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Ventricular septal defect, Camptodactyly |
OMIM:113000 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Decreased fetal movement, Spina bifida, Polyhydramnios, Flexion contract... |
ORPHA:2671 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Arrh... |
ORPHA:1519 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... |
OMIM:270100 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, P... |
ORPHA:261337 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
Seckel Syndrome 9 |
|
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic her... |
OMIM:616777 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left h... |
OMIM:100300 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Optic disc coloboma, Telangiectasia, Hypertension, Chorioretinal coloboma, Pulmonar... |
OMIM:234100 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:75389 |
Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo... |
OMIM:609942 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Intrauterine growth retardation, Patent fora... |
OMIM:620113 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Hematochezia, Congenital pulmonary airway malformation... |
OMIM:243150 |
De Barsy Syndrome |
|
Decreased fetal movement, Decreased muscle mass, Ventricular septal defect, Patent ductus arterio... |
ORPHA:2962 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Camptodactyly |
OMIM:619980 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... |
OMIM:600987 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
Acrocardiofacial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Int... |
ORPHA:2008 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Vacterl With Hydrocephalus |
|
Polyhydramnios, Spina bifida, Aqueductal stenosis, Hydrocephalus, Single umbilical artery, Intrau... |
ORPHA:3412 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect, Iris coloboma |
OMIM:300472 |
Spondylo-Ocular Syndrome |
|
Facial hypotonia, Ventricular septal defect |
ORPHA:85194 |
Jacobsen Syndrome |
|
Ventricular septal defect, Premature birth, Spina bifida, Hypoplastic left heart, Intrauterine gr... |
ORPHA:2308 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Severe intrauterine growth retardation, Subvalvu... |
OMIM:614114 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ... |
OMIM:609053 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... |
ORPHA:1727 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus... |
OMIM:257920 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Limb hypertonia |
OMIM:616920 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow... |
OMIM:602782 |
Trisomy 20P |
|
Umbilical hernia, Camptodactyly of finger, Spina bifida |
ORPHA:261318 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Oculodentodigital Dysplasia |
|
Umbilical hernia, Arrhythmia, Ventricular septal defect, Camptodactyly of finger |
ORPHA:2710 |
Myopathy With Extrapyramidal Signs |
|
Calf muscle hypertrophy, Ventricular septal defect |
OMIM:615673 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Transketolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... |
ORPHA:488618 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Sotos Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Muscular ventricular septal defect, Patent d... |
OMIM:117550 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Holoprosencephaly, Atrial septal defect, Cycl... |
ORPHA:261236 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ... |
OMIM:270450 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal d... |
OMIM:619534 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Iris coloboma |
OMIM:109400 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Holoprosencephaly, Chorioretinal coloboma, Umbilical hernia, Patent fo... |
OMIM:613884 |
Fanconi Anemia |
|
Spina bifida, Hydrocephalus, Patent ductus arteriosus, Oligohydramnios, Abnormal cardiac septum m... |
ORPHA:84 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect, Fetal distress |
OMIM:619312 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, P... |
OMIM:300998 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... |
ORPHA:457279 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma... |
OMIM:610443 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect |
OMIM:616449 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Facial palsy, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus,... |
OMIM:300373 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Singl... |
OMIM:192350 |
Filippi Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:3255 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Premature ventricular contrac... |
OMIM:602535 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Rig... |
OMIM:617506 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Abnormality of prenatal development or bi... |
ORPHA:33364 |
Short Stature-Micrognathia Syndrome |
|
Skeletal muscle hypertrophy, Intrauterine growth retardation, Ventricular septal defect |
OMIM:617164 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Contractures of the large joints, Ventricular septal defect |
ORPHA:3078 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Macroglossia, Arrhythmia, Tetralogy of Fallot |
ORPHA:261494 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Heart ... |
OMIM:614866 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Hydrops fetalis, Chori... |
ORPHA:268249 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida,... |
OMIM:274000 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventricular septal defect, Premature birth, Abnormality of prenatal development or birth, Ventous... |
OMIM:619229 |
Nail-Patella Syndrome |
|
Biceps aplasia, Spina bifida, Absence of pectoralis minor muscle, Triceps aplasia, Quadriceps apl... |
OMIM:161200 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventric... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventric... |
ORPHA:363958 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Ventricular septal defect, Polyhydramnios, Lymphedema, Ascites |
OMIM:235255 |
Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Single umbilical artery, Ventricular septal defect |
OMIM:145420 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Polyhydramnios, Flexion contracture, Camptodactyly, Atrial septal defe... |
OMIM:605039 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Aortic valve stenosis, Umbili... |
ORPHA:955 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:617159 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Premature birth, Cardiomegaly, Patent ductus arteriosus, Partial anoma... |
ORPHA:95430 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Paten... |
ORPHA:464311 |
Microphthalmia, Syndromic 2 |
|
Remnants of the hyaloid vascular system, Ventricular septal defect, Dextrocardia, Patent ductus a... |
OMIM:300166 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly |
OMIM:619123 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... |
ORPHA:506 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Transpos... |
ORPHA:1780 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Holoprosencephaly, Congenital diaphragmatic hernia |
OMIM:612530 |
Opitz Gbbb Syndrome |
|
Umbilical hernia, Ventricular septal defect |
OMIM:300000 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Mitral stenosis, Oligohydram... |
ORPHA:96201 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C... |
ORPHA:373 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:277600 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal he... |
ORPHA:2745 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Double outlet righ... |
OMIM:301043 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Camptodactyly, Atri... |
OMIM:300963 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Umbilical hernia, Iris coloboma |
OMIM:102500 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hydrocephalus, Flexion contracture, Holoprosencephaly, Chorioretinal c... |
OMIM:147791 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Heart murmur, Intracranial he... |
ORPHA:163979 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... |
OMIM:610759 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Premature birth, Congestive heart failure, Small t... |
OMIM:105650 |
Cohen Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Mitral valve prolapse, Intrauterine growth r... |
ORPHA:193 |
3Q29 Microduplication Syndrome |
|
Aniridia, Ventricular septal defect, Iris coloboma, Camptodactyly of toe |
ORPHA:251038 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele, Iris coloboma |
OMIM:601707 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonary art... |
ORPHA:163956 |
Down Syndrome |
|
Thickened nuchal skin fold, Prenatal double bubble sign, Ventricular septal defect, Complete atri... |
OMIM:190685 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Gastrointestinal hemorrhage, Ventricular septal defect, Atrioventricular canal de... |
ORPHA:508488 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Breech presentation, ... |
OMIM:618846 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Chorioretinal coloboma |
ORPHA:96097 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Contracture of the proximal interphalangeal joint of the 5th finger, J... |
OMIM:280000 |
Velocardiofacial Syndrome |
|
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect |
OMIM:192430 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... |
ORPHA:3138 |
19Q13.11 Microdeletion Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
ORPHA:217346 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... |
OMIM:619895 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Congenital pulmonary airway malformat... |
OMIM:611812 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Scapular winging, Ventricular septal defect, Mitral regurgitation, Congeni... |
OMIM:615582 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly, Atrial septal defect, ... |
OMIM:617602 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:1692 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
Zellweger Syndrome |
|
Thickened nuchal skin fold, Ventricular septal defect, Premature birth |
ORPHA:912 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Oligohydramnios |
ORPHA:411709 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Flexion contra... |
OMIM:180849 |
Hardikar Syndrome |
|
Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an... |
OMIM:301068 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Subvalvular aortic stenosis |
OMIM:613001 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Spina bifida, Patent ductus arteriosus, Unilateral facial palsy, Atrioventricular ca... |
OMIM:619480 |
Syndromic Diarrhea |
|
Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... |
ORPHA:84064 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Type 1 muscle fi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Type 1 muscle fi... |
ORPHA:352665 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... |
ORPHA:209905 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
Neurofibromatosis, Type I |
|
Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension |
OMIM:162200 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, N... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, N... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, N... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, N... |
ORPHA:220386 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary valve atresia, Atrial septal defect, Intrauterine growth ret... |
OMIM:301030 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve |
OMIM:616652 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Optic disc coloboma, Coloboma, Atrial septal ... |
ORPHA:251014 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema |
OMIM:606232 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal... |
OMIM:607721 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... |
OMIM:616894 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic steno... |
ORPHA:488632 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter... |
ORPHA:464306 |
Costello Syndrome |
|
Ventricular septal defect, Premature birth, Rhabdomyosarcoma, Polyhydramnios, Hydrocephalus, Achi... |
OMIM:218040 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... |
OMIM:142900 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... |
ORPHA:96167 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... |
OMIM:614609 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele |
ORPHA:397715 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Ventricular septal... |
ORPHA:79345 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Coloboma, Ventricular septal defect |
ORPHA:251028 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... |
ORPHA:500095 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Um... |
ORPHA:97360 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... |
OMIM:620024 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Macroglossia, Cardiomyopathy, Atrial septal defect, Intrauterine growt... |
ORPHA:769 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula... |
OMIM:614294 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Hydrocephalus, Ventricular septal defect, Caesarian section |
OMIM:619575 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Lathosterolosis |
|
Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave, Limb h... |
ORPHA:444072 |
Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Angina pectoris, Lymphedema, Pericardial effusion, Int... |
ORPHA:79318 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... |
OMIM:178110 |
Trichohepatoneurodevelopmental Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Premature birth, Polyhydramnios, Patent duct... |
OMIM:618268 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Flexion contracture, Ventricular septal defect |
OMIM:309520 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Contracture of ... |
ORPHA:464738 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... |
ORPHA:2461 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Macroglossia, Patent ductus arteriosus, Ventricular septal defect, Breech presentation |
OMIM:214100 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure, Meningocele, Mitra... |
ORPHA:558 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Patent ductus arterios... |
ORPHA:96121 |
Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal... |
ORPHA:1507 |
C Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:211750 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Torticollis, Nuchal cord, Bicuspid aortic valve, Ventricular septal defect,... |
OMIM:619475 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di... |
OMIM:613309 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Hypoplastic left heart |
OMIM:277170 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect |
OMIM:123700 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ascites, Ventricular septal defect, Polyhydramnios |
ORPHA:1655 |
Chops Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve... |
OMIM:616368 |
Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Meningocele, Hydrops fetalis |
ORPHA:2879 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Holoprosencephaly, Neonatal death, Intrauter... |
OMIM:146510 |
Liver Disease, Severe Congenital |
|
Pulmonary edema, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of ... |
OMIM:619991 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:610338 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Flexion contracture of finger, Meningocele, Digital constriction ring |
ORPHA:1010 |
Degcags Syndrome |
|
Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Premature birth, Polyhydramnio... |
OMIM:619488 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Smith-Lemli-Opitz Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Premature birth, Breech presentation, Hydroc... |
OMIM:270400 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Macroglossia, Ventricular septal defect, Patent foramen ovale |
OMIM:613457 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Intrauterine growth... |
ORPHA:2209 |
Larsen Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Spina bifida occulta, Ventricular septal d... |
OMIM:150250 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Anencephaly, S... |
OMIM:236680 |
Arima Syndrome |
|
Occipital meningocele, Hypertension, Chorioretinal coloboma |
OMIM:243910 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Aortopulmonary window, Apla... |
OMIM:620025 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... |
OMIM:214800 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Limb hypertonia |
OMIM:609460 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Increased nuchal tran... |
ORPHA:818 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Po... |
OMIM:312870 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Breech presentation, Hy... |
OMIM:210710 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... |
ORPHA:466791 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... |
OMIM:143095 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly, Umbilical hernia, Intra... |
OMIM:616145 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma... |
OMIM:615948 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe... |
ORPHA:904 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Orofaciodigital Syndrome V |
|
Optic disc coloboma, Ventricular septal defect, Tetralogy of Fallot |
OMIM:174300 |
Campomelic Dysplasia |
|
Spina bifida, Polyhydramnios, Contracture of the distal interphalangeal joint of the fingers, Hyd... |
OMIM:114290 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Feingold Syndrome 1 |
|
Decreased fetal movement, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent d... |
OMIM:164280 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Patent ductus arteriosus, Coloboma, Intrauterine growth retardation, P... |
OMIM:616975 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis |
OMIM:263520 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Coloboma, Retinal co... |
OMIM:617107 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom... |
ORPHA:573278 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
Zttk Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Breech presentation, Patent ductus arteriosus, F... |
OMIM:617140 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... |
ORPHA:268261 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Camptodactyly |
OMIM:272950 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... |
ORPHA:353281 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept... |
OMIM:300712 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios |
OMIM:600373 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Polyhydramnios |
OMIM:615503 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Premature birth, Congenital diaphragmatic hernia, Aqueductal stenosis,... |
OMIM:154400 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrocephalus, Increased nuchal transluc... |
ORPHA:3472 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... |
ORPHA:2473 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am... |
OMIM:616268 |
Esophageal Atresia |
|
Ventricular septal defect, Polyhydramnios, Coloboma, Absence of stomach bubble on fetal sonograph... |
ORPHA:1199 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... |
ORPHA:1465 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor... |
ORPHA:444077 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... |
OMIM:249420 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Fetal ascites, Polyhydramnios, Patent ductus arteriosus, 5-minute APGA... |
ORPHA:141127 |
Peters-Plus Syndrome |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Hydrocephalus, Patent ductus arterios... |
OMIM:261540 |
Aicardi Syndrome |
|
Optic disc coloboma, Spina bifida |
OMIM:304050 |
Omodysplasia 1 |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:258315 |
Microphthalmia, Syndromic 3 |
|
Coloboma, Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Optic disc coloboma, Elbow flexion co... |
OMIM:122470 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
Proboscis Lateralis |
|
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Holoprosencephaly, Chor... |
ORPHA:141099 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... |
ORPHA:353277 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Early Infantile Epileptic Encephalopathy |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1934 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Mitra... |
ORPHA:363700 |
Fryns Syndrome |
|
Ventricular septal defect, Polyhydramnios, Aplasia of the left hemidiaphragm, Stillbirth, Chyloth... |
OMIM:229850 |
Cardiospondylocarpofacial Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ve... |
OMIM:157800 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
Apert Syndrome |
|
Hydrocephalus, Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:244450 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Hydrocephalus, Frontal ence... |
OMIM:268300 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Chime Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Retinal coloboma, Transposition of the great arte... |
ORPHA:3474 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Chylothorax, Pulmonic stenosis, ... |
OMIM:163950 |
Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Flexion contracture, Ventricular septal defect |
OMIM:227645 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect |
OMIM:618021 |
Phace Association |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:606519 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Flexion contracture, Knee flexion contracture, Diaphragmatic eventration, Foot dor... |
OMIM:619503 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Supravalvular aortic steno... |
OMIM:194050 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Tetralogy o... |
OMIM:135900 |
Viss Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Ventricula... |
OMIM:619472 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Atr... |
ORPHA:3047 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect |
OMIM:619306 |
Otopalatodigital Syndrome, Type Ii |
|
Elbow contracture, Spina bifida, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia |
OMIM:304120 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... |
OMIM:301044 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Ventricular septal defect, Congenital pulmonary airway malformat... |
ORPHA:436252 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... |
OMIM:271640 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Weakness of facial musculature, Ventricular septal defect, Premature birth |
OMIM:619418 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Intrauterine growth retardation, Ventricular septal defect, Ventricular septal hypertrophy, Oligo... |
OMIM:608670 |
Townes-Brocks Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Chorioretinal coloboma, Atrial septa... |
OMIM:107480 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Intrauterine growth retardation, Dysplastic tricuspid valve, Ve... |
ORPHA:1724 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Elbow flexion contracture, A... |
OMIM:117650 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Coloboma, Joint contracture of the hand, Campt... |
OMIM:309500 |
Pallister-Hall Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Oligohydramnios, Distal arthrogryposis, Holo... |
ORPHA:672 |
Mowat-Wilson Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Generalized muscle hypertrophy, Abnormal hea... |
OMIM:235730 |
Chromosome 16P13.3 Duplication Syndrome |
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Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ... |
OMIM:613458 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:600460 |
Wolf-Hirschhorn Syndrome |
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Decreased fetal movement, Decreased muscle mass, Ventricular septal defect, Hydrocephalus, Atrial... |
OMIM:194190 |
Diamond-Blackfan Anemia |
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Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Atrial septal de... |
ORPHA:124 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:438213 |
Digeorge Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Truncus arteriosus, Tetral... |
OMIM:188400 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Lower-limb joint... |
ORPHA:459070 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale |
OMIM:618748 |
Femoral-Facial Syndrome |
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Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Umbilical hernia, Ventricular septal defect |
OMIM:620330 |
Ulnar-Mammary Syndrome |
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Elbow flexion contracture, Arrhythmia, Ventricular septal defect |
OMIM:181450 |
Orofaciodigital Syndrome Type 14 |
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Patent ductus arteriosus, Ventricular septal defect, Retinal coloboma |
ORPHA:434179 |
Sotos Syndrome |
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Hip contracture, Ventricular septal defect, Ankle flexion contracture, Bilateral camptodactyly, F... |
ORPHA:821 |
Keutel Syndrome |
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Hypertension, Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
Cornelia De Lange Syndrome |
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Ventricular septal defect, Premature birth, Congenital diaphragmatic hernia, Prenatal movement ab... |
ORPHA:199 |
Pallister-Killian Syndrome |
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Edema of the dorsum of feet, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydr... |
OMIM:601803 |
Johanson-Blizzard Syndrome |
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Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A... |
OMIM:243800 |
Alagille Syndrome 1 |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:118450 |
Alzahrani-Kuwahara Syndrome |
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Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement |
OMIM:619268 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Ventricular septal defect |
ORPHA:1071 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Premature birth, Polyhydramnios, Hydrops fetalis, Heart murmur, Pulmon... |
OMIM:216340 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Hydrocephal... |
OMIM:164210 |
Penile Agenesis |
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Atrial septal defect, Fetal pyelectasis, Ventricular septal defect, Oligohydramnios |
ORPHA:49 |
Craniotubular Dysplasia, Ikegawa Type |
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Ventricular septal defect |
OMIM:619727 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept... |
OMIM:619522 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Patent duc... |
ORPHA:261552 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Lower-limb joint contracture, Ventricular septal defect |
ORPHA:513456 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Tetralogy of Fallot, Ventricular septal defect |
OMIM:619525 |
Kabuki Syndrome 1 |
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Atrial septal defect, Hydrocephalus, Ventricular septal defect |
OMIM:147920 |
Osteoporosis-Pseudoglioma Syndrome |
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Ventricular septal defect |
OMIM:259770 |
Genitopatellar Syndrome |
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Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Atrial sept... |
OMIM:606170 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Occipital meningocele, Elbow flexion contracture |
OMIM:276820 |
Coffin-Siris Syndrome 2 |
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Macroglossia, Intrauterine growth retardation, Abnormal heart morphology |
OMIM:614607 |