Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Congenital Heart Block |
|
Endocardial fibroelastosis, Patent ductus arteriosus, Third degree atrioventricular block, Pleura... |
ORPHA:60041 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... |
OMIM:613424 |
Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... |
OMIM:616276 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Small placenta, Abnormal heart morphology, Intra... |
ORPHA:439167 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... |
OMIM:115197 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Hydrops Fetalis |
|
Generalized edema, Increased placental thickness, Lymphedema, Abnormal heart morphology, Ascites,... |
ORPHA:1041 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... |
ORPHA:300751 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... |
OMIM:614702 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... |
OMIM:616201 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Myopathy, Pulmonary edema, Breech presentation, Increased myocardial g... |
OMIM:261740 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Bradycardia, Flexio... |
OMIM:618815 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... |
OMIM:163800 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Congestive heart failure, Intrauterine growth retardation, Left ventricu... |
OMIM:619048 |
Timothy Syndrome |
|
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... |
OMIM:601005 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Idiopathic Congenital Hypothyroidism |
|
Facial edema, Macroglossia, Umbilical hernia, Bradycardia |
ORPHA:95717 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia, Neonatal death |
OMIM:257100 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... |
ORPHA:2414 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Cardiomyopathy, Ascites, Portal hypertension, Decreased fetal movement, ... |
OMIM:232500 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Anhydramnios, Occipital encephalocele, Encephalocele |
OMIM:613885 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia |
OMIM:618235 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Umbilical hernia, Lymphedema, Cardiomegaly, Bicuspid ao... |
OMIM:239850 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... |
ORPHA:66529 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti, Ventricular septal ... |
ORPHA:254534 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,... |
ORPHA:363705 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... |
ORPHA:330001 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Decreased fetal movement, Bradycardia |
ORPHA:2898 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Intrauterine growth retardation, Left ventric... |
OMIM:614654 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste... |
OMIM:618775 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Umbilical hernia |
OMIM:615297 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... |
ORPHA:26793 |
Aminoacylase 1 Deficiency |
|
Breech presentation, Bradycardia |
OMIM:609924 |
Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... |
OMIM:618773 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... |
OMIM:613426 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small placenta, Intrauterine growth retardation, Oligohydramnios |
ORPHA:397590 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small placenta, Intrauterine growth retardation, Severe intrauterine growth retardation |
ORPHA:73272 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre... |
OMIM:212138 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
Congenital Tricuspid Valve Dysplasia |
|
Premature birth, Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid val... |
ORPHA:555874 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... |
OMIM:616501 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... |
OMIM:615745 |
Congenital Enterovirus Infection |
|
Hypotension, Fetal ascites, Cardiomyopathy, Fetal distress, Pleural effusion, Polyhydramnios, Dec... |
ORPHA:292 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Fetal distress, Ascites, Pleural effusion, Bradycardia, Cerebral h... |
OMIM:617397 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Left ventricular non... |
OMIM:617228 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... |
ORPHA:542306 |
Familial Thyroid Dyshormonogenesis |
|
Facial edema, Macroglossia, Umbilical hernia, Bradycardia |
ORPHA:95716 |
Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:3092 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m... |
OMIM:252011 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Bradycardia, EMG: myo... |
OMIM:609286 |
Indomethacin Embryofetopathy |
|
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... |
ORPHA:1909 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Pulmonary edema, Bradycardia, Tachycardia, Cardiac arrest, Premature birth |
ORPHA:70587 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... |
ORPHA:2041 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... |
OMIM:612124 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Multiple muscular ventricular septal defects, Polyhydramnios, Decreased fetal movement, Limb hype... |
OMIM:620070 |
Fetal Akinesia Deformation Sequence 1 |
|
Congenital contracture, Premature birth, Decreased muscle mass, Camptodactyly of finger, Small pl... |
OMIM:208150 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Umbilical hernia, Bradycardia |
ORPHA:226313 |
Eng-Strom Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Abnormal cardiac septum morphology, C... |
ORPHA:1937 |
Nemaline Myopathy 9 |
|
Nemaline bodies, Ventricular septal defect, Fetal akinesia sequence, Breech presentation, Polyhyd... |
OMIM:615731 |
Romano-Ward Syndrome |
|
Abnormality of prenatal development or birth, Abnormal T-wave, Torsade de pointes, Sinus bradycar... |
ORPHA:101016 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Decreased muscle mass... |
ORPHA:263297 |
Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Decr... |
OMIM:253300 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
Neu-Laxova Syndrome 1 |
|
Generalized edema, Hydranencephaly, Joint contracture of the hand, Small placenta, Intrauterine g... |
OMIM:256520 |
Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Congenital Disorder Of Glycosylation, Type Il |
|
Ascites, Fetal skin edema, Decreased fetal movement, Atrial septal defect, Pericardial effusion, ... |
OMIM:608776 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Small hypothenar eminence, Mitral valve prolapse, Spina bifida, Sm... |
OMIM:211960 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Periorbital edema, Joint contracture of the hand, Umbilical hernia, Lymphedema, Pleural effusion,... |
OMIM:235510 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... |
OMIM:619313 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... |
OMIM:614954 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... |
OMIM:607941 |
Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... |
OMIM:618280 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Pedal edema, Right ventricular failure, H... |
ORPHA:99095 |
Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Pericardial effusion, Sma... |
ORPHA:36412 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Prolonged QTc interval, Pericarditis |
ORPHA:231111 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect |
ORPHA:2476 |
Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... |
ORPHA:1686 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Sinus bradycardia |
OMIM:126320 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... |
OMIM:249670 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Bradycard... |
ORPHA:40366 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... |
ORPHA:860 |
Glutamine Deficiency, Congenital |
|
Camptodactyly, Neonatal death, Flexion contracture, Bradycardia |
OMIM:610015 |
Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia |
OMIM:614407 |
Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy |
OMIM:620089 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
Aicardi-Goutieres Syndrome 9 |
|
Lower limb hypertonia, Ascites, Intrauterine growth retardation, Portal hypertension, Left ventri... |
OMIM:619487 |
Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e... |
ORPHA:199241 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ... |
ORPHA:70 |
Necrotizing Enterocolitis |
|
Hypotension, Shock, Ascites, Abnormal heart morphology, Bradycardia, Edema, Premature birth |
ORPHA:391673 |
Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Restrictive Dermopathy |
|
Camptodactyly of finger, Small placenta, Intrauterine growth retardation, Large placenta, Short u... |
ORPHA:1662 |
Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Limb hypertonia, Joint contracture, Bradycardia |
OMIM:614498 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Umbilical hernia, Edema, Bradycardia |
ORPHA:90673 |
Danon Disease |
|
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... |
OMIM:300257 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Anasarca, Ascites, Pleural effusion, Polyhydramnios, Coloboma, Pericardial effusion |
OMIM:618183 |
Alpha-Thalassemia |
|
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis |
ORPHA:846 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... |
OMIM:619167 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Intrauterine growth retardation, Ventricular septal defect, Breech presentation, Bradycardia, Ret... |
OMIM:614653 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Decreased fetal movement, Ventricular septal defect |
OMIM:619717 |
Pediatric Systemic Lupus Erythematosus |
|
Ascites, Pleural effusion, Myositis, Raynaud phenomenon, Pericardial effusion, Edema |
ORPHA:93552 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Peripheral edema, Hypertension, Pleural effusion |
ORPHA:79126 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal... |
ORPHA:1120 |
Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Intrauterine growth retardation, Large placenta, Diastasis recti, Polyhydramnio... |
ORPHA:254528 |
Alkuraya-Kucinskas Syndrome |
|
Arthrogryposis multiplex congenita, Pleural effusion, Hydrocephalus, Camptodactyly, Pericardial e... |
OMIM:617822 |
Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
Mosaic Trisomy 16 |
|
Abnormal heart morphology, Intrauterine growth retardation, Large placenta, Ventricular septal de... |
ORPHA:1708 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... |
OMIM:220210 |
Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal... |
ORPHA:49827 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Hydranencephaly, Ventricular septal defect |
OMIM:601355 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Flexion contracture, Abnormality... |
OMIM:212065 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Coloboma,... |
OMIM:618652 |
Crimean-Congo Hemorrhagic Fever |
|
Retinal hemorrhage, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Ascites, Hemot... |
ORPHA:99827 |
Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... |
ORPHA:1908 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... |
OMIM:603830 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca... |
OMIM:613870 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia |
OMIM:619272 |
Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Atrial septal defect, ... |
OMIM:611134 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia, Camptodactyly of finger |
ORPHA:1759 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat... |
OMIM:609040 |
Tetanus |
|
Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
Illum Syndrome |
|
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia |
OMIM:208155 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Tetralogy of Fallot, Intrauterine growth retardation, Large placenta, Abnor... |
OMIM:222470 |
Congenital Syphilis |
|
Intrauterine growth retardation, Large placenta, Hydrocephalus, Myocarditis, Hydrops fetalis, Pre... |
ORPHA:499009 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Coloboma, Hydrocephalus, Meningocele, Intracranial hemo... |
OMIM:614424 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Fetal pericardial effusion, Second degree atrioventricular block, Ascites, Intrauterine growth re... |
OMIM:617021 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... |
OMIM:613873 |
Alg9-Cdg |
|
Hypoplasia of the musculature, Thickened nuchal skin fold, Tricuspid regurgitation, Abnormal hear... |
ORPHA:79328 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Coloboma, Holoprosencephaly, Anterior encephalocele, Ventricular septal defect |
OMIM:601357 |
Q Fever |
|
Vasculitis, Abnormal heart valve morphology, Pleural effusion, Myocarditis, Abnormal left ventric... |
ORPHA:781 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Primary Intestinal Lymphangiectasia |
|
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Edema |
ORPHA:90362 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ... |
OMIM:601927 |
Kaposiform Lymphangiomatosis |
|
Epistaxis, Pleural effusion, Pericardial effusion, Subconjunctival hemorrhage, Epidural hemorrhage |
ORPHA:464329 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent... |
ORPHA:1354 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Spina bifida, Ventricular septal defect |
ORPHA:2345 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Intrauterine growth retardation, Limb hypertonia, Congenital foot contractures, Bradycardia |
ORPHA:565624 |
Poems Syndrome |
|
Ascites, Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion, Edema |
ORPHA:2905 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, L... |
OMIM:615355 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Macroglossia, Umbilical hernia, Bradycardia |
ORPHA:90674 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septa... |
OMIM:612938 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Colobom... |
ORPHA:329224 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Lujo Hemorrhagic Fever |
|
Facial edema, Periorbital edema, Hypotension, Generalized edema, Shock, Cerebral edema, Bradycard... |
ORPHA:319213 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Supravalvular aortic stenosis, Polyhydramnios, Ventricular septal defect |
OMIM:618624 |
Aicardi-Goutieres Syndrome 7 |
|
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydr... |
OMIM:615846 |
Humero-Radial Synostosis |
|
Meningocele, Iris coloboma, Chorioretinal coloboma |
ORPHA:3265 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defect |
OMIM:249270 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Atrioventricular block, ... |
ORPHA:1329 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Decreased fetal movement, Ventricular septal def... |
OMIM:607598 |
Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... |
ORPHA:2299 |
D-Glyceric Aciduria |
|
Patent ductus arteriosus, Bradycardia |
OMIM:220120 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Pulmonary arterial hypertension, Abn... |
ORPHA:77261 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Donnai-Barrow Syndrome |
|
Iris coloboma, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:2143 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Triploidy |
|
Intrauterine growth retardation, Hydrocephalus, Abnormal cardiac septum morphology, Polyhydramnio... |
ORPHA:3376 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
Schisis Association |
|
Congenital diaphragmatic hernia, Encephalocele, Spina bifida, Anencephaly, Premature birth |
ORPHA:63862 |
Sepsis In Premature Infants |
|
Hypotension, Caesarian section, Bradycardia, Tachycardia, Edema, Premature birth |
ORPHA:90051 |
Tatton-Brown-Rahman Syndrome |
|
Umbilical hernia, Tricuspid regurgitation, Fetal distress, Mitral regurgitation, Ventricular sept... |
OMIM:615879 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Umbilical hernia, Echogenic intracardiac focus, Intrauterine growth retardation, Ventricular sept... |
OMIM:617751 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Mitral valve prolapse, Umbilical hernia |
ORPHA:536532 |
Myhre Syndrome |
|
Aortic valve stenosis, Skeletal muscle hypertrophy, Intrauterine growth retardation, Pericardial ... |
OMIM:139210 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... |
OMIM:614262 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Decreased fetal movement, Myopathy, Ventricular s... |
OMIM:616816 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bic... |
ORPHA:500159 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... |
ORPHA:73224 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Oligohydramnios, Congenital diaphragmatic hernia, Hypoplasia of the diap... |
OMIM:614437 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Bohring-Opitz Syndrome |
|
Congenital contracture, Intrauterine growth retardation, Cardiomegaly, Coloboma, Abnormal cardiac... |
ORPHA:97297 |
Gitelman Syndrome |
|
Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, Rhabdomyolysis, ST segment... |
ORPHA:358 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Hydrocephalus, Camptodactyly, Pericardial effusion, Patent ductu... |
ORPHA:1272 |
Long-Olsen-Distelmaier Syndrome |
|
Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive... |
OMIM:620609 |
Phakomatosis Pigmentokeratotica |
|
Lymphedema, Arrhythmia, Coloboma, Raynaud phenomenon, Spina bifida, Rhabdomyosarcoma |
ORPHA:2874 |
Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... |
ORPHA:1209 |
Verheij Syndrome |
|
Branchial cyst, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect, C... |
OMIM:615583 |
Joubert Syndrome 18 |
|
Camptodactyly, Intrauterine growth retardation, Occipital encephalocele, Ventricular septal defect |
OMIM:614815 |
Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... |
OMIM:615996 |
Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... |
ORPHA:392 |
Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Rhabdomyolysis, Arrhythmia, Bradycardia, Ta... |
ORPHA:94093 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Chorioretinal coloboma, Abnormal heart morphology, Ventricular septal de... |
ORPHA:284169 |
Recombinant Chromosome 8 Syndrome |
|
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ... |
OMIM:179613 |
Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Limb Body Wall Complex |
|
Iris coloboma, Amniotic constriction ring, Myelomeningocele, Abnormal heart morphology, Abnormal ... |
ORPHA:2369 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Diabetic Embryopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Ventricular septal defect, Aplasia/Hypoplasia of the abdo... |
ORPHA:1926 |
Emanuel Syndrome |
|
Aortic valve stenosis, Thickened nuchal skin fold, Intrauterine growth retardation, Oligohydramni... |
OMIM:609029 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce... |
ORPHA:99094 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Increased nuchal translucency, Patent foramen ovale, Ventricular septal defect, Atri... |
OMIM:615668 |
Subependymal Nodular Heterotopia |
|
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele |
ORPHA:101030 |
Eisenmenger Syndrome |
|
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... |
ORPHA:97214 |
Meckel Syndrome, Type 1 |
|
Iris coloboma, Occipital encephalocele, Camptodactyly of finger, Intrauterine growth retardation,... |
OMIM:249000 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Alg3-Cdg |
|
Macroglossia, Neural tube defect, Arthrogryposis multiplex congenita, Cardiomyopathy |
ORPHA:79321 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Neonatal death, Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:615524 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... |
OMIM:612561 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Large placenta, Diastasis recti, Premature birth |
ORPHA:254519 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Hydrocephalus, Spina bifida |
OMIM:207950 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Pleural effusion, Ventricu... |
OMIM:616897 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:619189 |
Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus, Myopathy |
ORPHA:588 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Chorioretinal coloboma, Meningocele |
ORPHA:2481 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Pulmonary arterial hypertension, Hydrocephalus, Bradycardia, Tachycardia, Cardiac ar... |
OMIM:277400 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Umbilical hernia |
OMIM:619769 |
Roifman Syndrome |
|
Intrauterine growth retardation, Hip contracture, Ventricular septal defect, Noncompaction cardio... |
OMIM:616651 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Intrauterine growth retardation, Single umbilical artery, Ventricular sep... |
ORPHA:2772 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Supraventricular arrhy... |
ORPHA:91347 |
Restrictive Dermopathy 1 |
|
Premature rupture of membranes, Spontaneous chorioamniotic separation, Intrauterine growth retard... |
OMIM:275210 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Czeizel-Losonci Syndrome |
|
Thickened nuchal skin fold, Myelomeningocele, Spina bifida, Dextrocardia, Hydrocephalus, Spina bi... |
ORPHA:2437 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiec... |
OMIM:612582 |
Cat Eye Syndrome |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Chorioretinal coloboma, Umbilica... |
OMIM:115470 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Chorioretinal coloboma, Tetralogy of Fallot, Atrio... |
ORPHA:7 |
Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:615279 |
Tyshchenko Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Polyhydramnios,... |
OMIM:615102 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Arthrogryposis-like hand anomaly, Umbilical hernia, Abnormal heart morphology, Patent foramen ova... |
ORPHA:369891 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
Greenberg Dysplasia |
|
Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Neonatal death, Stillbi... |
OMIM:215140 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Congenital contracture, Intrauterine growth retardation, Sinus bradycardia, Joint contracture, Fl... |
OMIM:618397 |
Scimitar Syndrome |
|
Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea... |
ORPHA:185 |
Wildervanck Syndrome |
|
Meningocele, Facial palsy |
ORPHA:3456 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Hydrocephalus, Chylopericardium |
ORPHA:538 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Facial hypotonia, Spina bifida |
OMIM:620439 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Epistaxis, Pleural effusion, Edema |
ORPHA:167 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Umbilical hernia, Bradycardia |
OMIM:218700 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... |
OMIM:613854 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Spina bifida, Scapular winging, Camptodactyly of finger |
ORPHA:1327 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Abnormal heart valve morphology, Intrauterine growth retardation, Endoca... |
ORPHA:99776 |
King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... |
OMIM:619542 |
Pelger-Huet Anomaly |
|
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness, Umbilical hernia |
OMIM:169400 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Facial edema, Macroglossia, Umbilical hernia, Bradycardia |
ORPHA:226307 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... |
ORPHA:369929 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly of finger, Umbilical he... |
ORPHA:1488 |
Emanuel Syndrome |
|
Aortic valve stenosis, Intrauterine growth retardation, Oligohydramnios, Congenital diaphragmatic... |
ORPHA:96170 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphragma... |
ORPHA:2311 |
Hennekam Syndrome |
|
Chylothorax, Lymphedema, Ascites, Camptodactyly of finger, Pericardial effusion, Hydrops fetalis |
ORPHA:2136 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Spinal dysraphism, Interphalangeal joint contracture of finger, Hypertrophic cardiomyopathy, Intr... |
ORPHA:96334 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... |
OMIM:306955 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Meningocele, Ventricular septal defect |
OMIM:620511 |
Absence Of The Pulmonary Artery |
|
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal EKG, Reduce... |
ORPHA:980 |
Double Outlet Right Ventricle |
|
Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Ventricular septal defect, Truncus art... |
ORPHA:3426 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Fetal distress, Ascites, Transient ischemic attack, Left ventricular sys... |
ORPHA:51608 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Truncus arteriosus, Portal hypertension, Ventricular septal defect |
OMIM:616589 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Hypoplastic rig... |
OMIM:618142 |
Anophthalmia Plus Syndrome |
|
Iris coloboma, Spina bifida |
ORPHA:1104 |
Hadziselimovic Syndrome |
|
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect |
OMIM:612946 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, Ventricular septal ... |
OMIM:618870 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical hernia, Tetralogy of Fal... |
OMIM:600001 |
Acropectorovertebral Dysplasia |
|
Spina bifida, Camptodactyly of finger |
ORPHA:957 |
Lateral Meningocele Syndrome |
|
Iris coloboma, Meningocele, Ventricular septal defect, Umbilical hernia |
ORPHA:2789 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Hydroc... |
OMIM:130720 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect... |
OMIM:608149 |
Carpenter Syndrome 1 |
|
Joint contracture of the hand, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, ... |
OMIM:201000 |
Pentalogy Of Cantrell |
|
Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Encephaloc... |
ORPHA:1335 |
Focal Dermal Hypoplasia |
|
Chorioretinal coloboma, Umbilical hernia, Camptodactyly of finger, Diastasis recti, Congenital di... |
ORPHA:2092 |
Marburg Hemorrhagic Fever |
|
Hypotension, Subconjunctival hemorrhage, Dehydration, Shock, Capillary leak, Internal hemorrhage,... |
ORPHA:99826 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:261243 |
Beckwith-Wiedemann Syndrome |
|
Subchorionic septal cyst, Umbilical hernia, Hypertrophic cardiomyopathy, Large placenta, Diastasi... |
ORPHA:116 |
Transaldolase Deficiency |
|
Intrauterine growth retardation, Oligohydramnios, Patent foramen ovale, Ventricular septal defect... |
OMIM:606003 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Polyhydramnios, Premature birth, Single umbilical artery, Ventricular septal defect |
ORPHA:2256 |
Pagod Syndrome |
|
Hypoplastic left heart, Situs inversus totalis, Encephalocele, Congenital diaphragmatic hernia, A... |
ORPHA:991 |
Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:210122 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Ventricular septal defect, Single umbilical artery, Polyhydr... |
ORPHA:3405 |
Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Transposition of... |
ORPHA:1913 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Absence of the pulmonary valve, Umbilical hernia, Congestive heart failure... |
OMIM:601808 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... |
OMIM:603387 |
Congenital Rubella Syndrome |
|
Intrauterine growth retardation, Atrial septal defect, Patent ductus arteriosus, Ventricular sept... |
ORPHA:290 |
Phaver Syndrome |
|
Myelomeningocele, Intrauterine growth retardation, Camptodactyly of finger, Ventricular septal de... |
ORPHA:2876 |
Contractural Arachnodactyly, Congenital |
|
Calf muscle hypoplasia, Elbow flexion contracture, Mitral regurgitation, Hip contracture, Mitral ... |
OMIM:121050 |
Cardiac Valvular Dysplasia 1 |
|
Valvular pulmonary stenosis, Edema, Tricuspid regurgitation, Muscular ventricular septal defect, ... |
OMIM:212093 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Abnormal heart morphology, Truncus arteriosus, Atrial septal defect, Ventricular septal defect |
ORPHA:401935 |
Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele |
OMIM:603194 |
Pseudotrisomy 13 Syndrome |
|
Complete atrioventricular canal defect, Encephalocele, Ventricular septal defect, Atrial septal d... |
OMIM:264480 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:2516 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Ventricular septal d... |
ORPHA:254346 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Intrauterine growth retardation, Increased nuchal translucency, Single umbilical artery, Ventricu... |
OMIM:617635 |
Coffin-Siris Syndrome 7 |
|
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Single u... |
OMIM:618027 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Semilobar holoprosencephaly, Ventricular septal defect |
OMIM:245552 |
Trisomy 13 |
|
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... |
ORPHA:3378 |
Trisomy 18 |
|
Iris coloboma, Camptodactyly of finger, Intrauterine growth retardation, Oligohydramnios, Congeni... |
ORPHA:3380 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Ventricular septal defect, Sp... |
ORPHA:1393 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... |
OMIM:615474 |
Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... |
OMIM:108800 |
Serkal Syndrome |
|
Oligohydramnios, Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect |
ORPHA:139466 |
Genitopalatocardiac Syndrome |
|
Transposition of the great arteries, Double outlet right ventricle, Ventricular septal defect |
OMIM:231060 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbilical hernia, Tetralogy of... |
ORPHA:2255 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Retinal coloboma, Tetralogy of Fallot, Atrioventricular canal defect, Ventr... |
ORPHA:508498 |
Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral regurgitatio... |
OMIM:616564 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic... |
ORPHA:63260 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se... |
OMIM:153400 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Limb h... |
OMIM:619909 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... |
OMIM:618316 |
Right Atrial Isomerism |
|
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... |
OMIM:208530 |
Prune Belly Syndrome |
|
Tetralogy of Fallot, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Aplasia of... |
ORPHA:2970 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Camptodactyly of finger, Retinal coloboma, Hydrocephalus, Spina bifida, Iris col... |
ORPHA:2839 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Umbilical hernia |
ORPHA:1770 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
Criss-Cross Heart |
|
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... |
ORPHA:1461 |
Fountain Syndrome |
|
Facial edema, Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Alagille Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Telangiectasia of the skin, Atrial se... |
ORPHA:52 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal... |
ORPHA:3071 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal heart morphology, Oligohydramnios, Increased nuchal translucency, Patent foramen ovale, ... |
OMIM:618494 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Iris coloboma, Diap... |
OMIM:222448 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Ventricular hypertrophy, Umbilical hernia, Retinal coloboma, Increased nuchal translucency, Ventr... |
OMIM:620654 |
Polysyndactyly With Cardiac Malformation |
|
Polyhydramnios, Stillbirth, Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
Rere-Related Neurodevelopmental Syndrome |
|
Chorioretinal coloboma, Abnormal heart morphology, Intrauterine growth retardation, Ventricular s... |
ORPHA:494344 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Iris coloboma, Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid... |
ORPHA:371428 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect |
OMIM:218350 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Intrauterine growth retardation, Ventricular septal defect, Hydrocephalus, Atrial septal defect, ... |
OMIM:614576 |
Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Meacham Syndrome |
|
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Stillbirth, Tetralogy of Fallot, Scim... |
OMIM:608978 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Umbilical hernia, Intrauterine growth retardation, Oligohydramnios, Ventricular septal defect, Ca... |
ORPHA:96191 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect |
OMIM:613730 |
Kapur-Toriello Syndrome |
|
Joint contracture of the hand, Camptodactyly of finger, Retinal coloboma, Intrauterine growth ret... |
OMIM:244300 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia |
OMIM:261990 |
Ogden Syndrome |
|
Arrhythmia, Cardiogenic shock, Torticollis, Ventricular septal defect |
ORPHA:276432 |
Trisomy 1Q |
|
Camptodactyly of finger, Increased nuchal translucency, Congenital diaphragmatic hernia, Ventricu... |
ORPHA:261344 |
Congenital Disorder Of Glycosylation, Type It |
|
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... |
OMIM:614921 |
46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Secundum atrial septal defect, Fetal distress, Tetralogy of Fallot, In... |
OMIM:612562 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Intrauterine growth retardation, Ventricular septal defect, Double outlet right ventricle, Polyhy... |
OMIM:301056 |
Gm1 Gangliosidosis |
|
Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Camptodactyly of finger, Ven... |
ORPHA:354 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Intrauterine growth retardation, Polyhydramnios, Ventricular septal defect, Atrial septal defect,... |
OMIM:617360 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Iris coloboma, Patent ductus arteriosus |
ORPHA:77298 |
Amish Lethal Microcephaly |
|
Limb hypertonia, Spina bifida, Decreased fetal movement |
ORPHA:99742 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Chorioretinal coloboma |
ORPHA:2031 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Elbow flexion contracture, Oligohydramnios, Knee flexion contracture, Decreased... |
OMIM:613776 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa... |
ORPHA:453499 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Tetralogy of Fallot, Intrauterine growth retardation, Congenital diaphra... |
OMIM:601186 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Camptodactyly, Atrial septal defect, Mitral regurgitation, Ventricular septal defect |
OMIM:301039 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Retinal coloboma, Occipital meningocele, Congenital diaphragmatic hernia, Hydrocephalus, Atrial s... |
OMIM:616546 |
Short-Rib Thoracic Dysplasia 12 |
|
Ascites, Intrauterine growth retardation, Patent foramen ovale, Ventricular septal defect, Neonat... |
OMIM:269860 |
Kapur-Toriello Syndrome |
|
Retinal coloboma, Tetralogy of Fallot, Ventricular septal defect, Iris coloboma, Patent ductus ar... |
ORPHA:2328 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Decreased fetal movement, Spina bifida, Polyhydramnios, Edema |
OMIM:616038 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion |
OMIM:181000 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal death, Patent ductus arteriosus, Bradycardia |
OMIM:617248 |
Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
Double Outlet Left Ventricle |
|
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... |
ORPHA:3427 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... |
OMIM:309801 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Dehydration, Edema, Bradycardia |
ORPHA:79404 |
Iniencephaly |
|
Spinal dysraphism, Arthrogryposis multiplex congenita, Myelomeningocele, Encephalocele, Congenita... |
ORPHA:63259 |
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Ventricular septal defect |
OMIM:209770 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Ventricular septal defect,... |
ORPHA:99050 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Hypoplastic left heart, Thickened nuchal skin fold, Umbilical hernia, Mitr... |
OMIM:618164 |
Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Pul... |
OMIM:610733 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:85202 |
Holt-Oram Syndrome |
|
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... |
OMIM:142900 |
Holoprosencephaly |
|
Spinal dysraphism, Chorioretinal coloboma, Tetralogy of Fallot, Branchial anomaly, Encephalocele,... |
ORPHA:2162 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Generalized edema, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Atrial sep... |
OMIM:617478 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Atrial septal defec... |
ORPHA:435638 |
Isolated Posterior Meningocele |
|
Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube... |
ORPHA:268810 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arthrogry... |
OMIM:208085 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Patent du... |
OMIM:265380 |
Yellow Fever |
|
Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal hemorrhage,... |
ORPHA:99829 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Edema, Ventricular septal defect |
OMIM:618348 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Intrauterine growth retardation, Oligohydramnios,... |
OMIM:617022 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Atrial septal defect, Ventricular sept... |
ORPHA:2519 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Perimembranous ventricular septal defect, Atrial septal defect, Heart ... |
OMIM:158170 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Iris coloboma, Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect |
ORPHA:52055 |
Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... |
OMIM:270100 |
Ogden Syndrome |
|
Torsade de pointes, Ventricular septal defect, Pulmonary edema, Premature ventricular contraction... |
OMIM:300855 |
Distal Deletion 19P |
|
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect, Umbilical hernia |
ORPHA:96129 |
Fanconi Anemia, Complementation Group B |
|
Intrauterine growth retardation, Ventricular septal defect, Single umbilical artery, Hydrocephalu... |
OMIM:300514 |
Methimazole Embryofetopathy |
|
Polyhydramnios, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:1923 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Camptodactyly of finger, Intrauterine growth retardation... |
ORPHA:261330 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Optic disc coloboma, Umbilical hernia, Congenital diaphragmatic hernia, Patent foramen ovale, Ven... |
OMIM:618454 |
Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... |
OMIM:613751 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Intrauterine growth retardation, Optic disc coloboma, Ventricular septal defect |
OMIM:613398 |
Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Umbilical hernia, Congestive heart failure, Elbow flexion contracture, Mit... |
OMIM:608328 |
Truncus Arteriosus |
|
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retarda... |
ORPHA:3384 |
Mgat2-Cdg |
|
Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Hydrops fetalis, Patent ductus ... |
ORPHA:79329 |
Ventriculomegaly With Cystic Kidney Disease |
|
Fetal pericardial effusion, Ventricular septal defect, Hydrocephalus, Polyhydramnios, Premature b... |
OMIM:219730 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
ERI1-related disease |
|
Tricuspid regurgitation, Abnormal heart morphology, Intrauterine growth retardation, Ventricular ... |
OMIM:608739 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Heart murmur, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:166035 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve... |
ORPHA:477817 |
Aase-Smith Syndrome I |
|
Flexion contracture, Hydrocephalus, Ventricular septal defect |
OMIM:147800 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Optic disc coloboma, Camptodactyly of finger, Tricuspid regurgitation, Palpebr... |
ORPHA:261337 |
Neu-Laxova Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2671 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... |
OMIM:619657 |
Noonan Syndrome 2 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increased nuchal tran... |
OMIM:605275 |
Hallermann-Streiff Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Optic disc coloboma, Telangiectasia, Pulmonary arterial hy... |
OMIM:234100 |
Duane-Radial Ray Syndrome |
|
Retinal coloboma, Pectoralis hypoplasia, Ventricular septal defect, Atrial septal defect, Small t... |
OMIM:607323 |
Noonan Syndrome 3 |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... |
OMIM:609942 |
Seckel Syndrome 9 |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia, Decreased fetal movement, Ventr... |
OMIM:616777 |
Specc1L-Related Hypertelorism Syndrome |
|
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defec... |
ORPHA:1519 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Perimembranous ventricular septal defect, Secundum atrial septal defect, Atrial septal defect, Ve... |
OMIM:600987 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:1455 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617516 |
Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Encephalocele, Ventricular se... |
OMIM:100300 |
De Barsy Syndrome |
|
Premature rupture of membranes, Decreased muscle mass, Umbilical hernia, Intrauterine growth reta... |
ORPHA:2962 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Persistent patent ductus venosus, Patent ductus arteriosus after premature birth, Knee flexion co... |
OMIM:620454 |
22Q11.2 Deletion Syndrome |
|
Hypertensive crisis, Gastrointestinal hemorrhage, Umbilical hernia, Tetralogy of Fallot, Intraute... |
ORPHA:567 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Congenital pulmonary airway malformation, Intrauterine growth retardation, Ventricu... |
OMIM:243150 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Intrauterine growth retardation, Oligohydramnios, Patent foramen ovale, Ventricular septal defect... |
OMIM:620113 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Intrauterine growth retardation, Mitral stenosis, V... |
ORPHA:2008 |
Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Congenita... |
ORPHA:3097 |
Heterotaxy, Visceral, 12, Autosomal |
|
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... |
OMIM:619702 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia, Ventricular septal defect |
OMIM:616037 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Iris coloboma, Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect |
OMIM:300472 |
Vacterl With Hydrocephalus |
|
Intrauterine growth retardation, Hydrocephalus, Spina bifida, Single umbilical artery, Polyhydram... |
ORPHA:3412 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson... |
OMIM:614947 |
Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Intrauterine growth retardation, Ventricular septa... |
ORPHA:2308 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Intrauterine growth retardation, Ventricular septal defect, Subvalvular aor... |
OMIM:614114 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,... |
OMIM:617506 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Encephalocele |
ORPHA:1827 |
Trisomy 20P |
|
Spina bifida, Camptodactyly of finger, Umbilical hernia |
ORPHA:261318 |
Sacral Defect With Anterior Meningocele |
|
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
Vater/Vacterl Association |
|
Occipital encephalocele, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal... |
OMIM:192350 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Atrial septal defect, Patent foramen ovale, Ventricular septal d... |
OMIM:609053 |
Oculodentodigital Dysplasia |
|
Arrhythmia, Ventricular septal defect, Camptodactyly of finger, Umbilical hernia |
ORPHA:2710 |
Sirenomelia |
|
Sirenomelia, Spina bifida |
ORPHA:3169 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Cardiac fibroma, Hydrocephalus, Spina bifida, Iris coloboma |
OMIM:109400 |
Fanconi Anemia |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Intrauterine growth retardati... |
ORPHA:84 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Elbow flexion contracture, Facial telangiectasia, Joint contracture of t... |
OMIM:602782 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
3Mc Syndrome 1 |
|
Diastasis recti, Ventricular septal defect, Conjunctival telangiectasia, Atrial septal defect, Sp... |
OMIM:257920 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Neonatal death, Dextrocardia... |
OMIM:619534 |
16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Cyclopia, Holoprosencep... |
ORPHA:261236 |
Koolen-De Vries Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of ... |
OMIM:610443 |
Chromosome 13Q14 Deletion Syndrome |
|
Chorioretinal coloboma, Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Holopr... |
OMIM:613884 |
Marshall-Smith Syndrome |
|
Umbilical hernia, Ventricular septal defect, Premature ventricular contraction, Pulmonary arteria... |
OMIM:602535 |
Transketolase Deficiency |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... |
ORPHA:488618 |
15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
Osteopathia Striata With Cranial Sclerosis |
|
Joint contracture of the hand, Oligohydramnios, Polyhydramnios, Ventricular septal defect, Atrial... |
OMIM:300373 |
Kleefstra Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Macroglossia |
ORPHA:261494 |
Trichothiodystrophy |
|
Abnormality of prenatal development or birth, Cardiomyopathy, Umbilical hernia, Intrauterine grow... |
ORPHA:33364 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Tricuspid regurgitation, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septa... |
OMIM:620663 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Fetal distress, Tricuspid regurgitation, Palpebral edema, Intrauterine grow... |
OMIM:614866 |
Nail-Patella Syndrome |
|
Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Absence of pectoralis minor muscle, Spina bi... |
OMIM:161200 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp... |
ORPHA:363958 |
Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar... |
ORPHA:95430 |
Mycophenolate Mofetil Embryopathy |
|
Chorioretinal coloboma, Congenital diaphragmatic hernia, Ventricular septal defect, Hydrocephalus... |
ORPHA:268249 |
Teebi Hypertelorism Syndrome 1 |
|
Single umbilical artery, Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect, Umbilical hernia |
OMIM:301040 |
Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Edema of the dorsu... |
OMIM:274000 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Lymphedema, Ascites, Ventricular septal defect, Thickened nuchal skin fold, Polyhydramnios |
OMIM:235255 |
Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Umbilical hernia, Mitral stenosis, Ventricular septal defect, Hydrocephalu... |
ORPHA:955 |
Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Umbilical hernia, Mitral valve prolapse, Ventricular septal defect, Contra... |
OMIM:300166 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect |
OMIM:619123 |
Fibular Hemimelia |
|
Abnormal heart morphology, Spina bifida |
ORPHA:93323 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Aortic regurgitation, Ankle flexion contracture, Intrauterine growth retar... |
ORPHA:464311 |
Down Syndrome |
|
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Atrioventricular canal defe... |
ORPHA:870 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect |
ORPHA:261250 |
X Small Rings |
|
Oligohydramnios, Mitral stenosis, Ventricular septal defect, Bicuspid aortic valve, Fetal pyelect... |
ORPHA:96201 |
Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:617159 |
Marfan Syndrome |
|
Aortic regurgitation, Skeletal muscle atrophy, Congestive heart failure, Mitral regurgitation, Mi... |
ORPHA:558 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventricula... |
ORPHA:1780 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Umbilical hernia |
OMIM:300000 |
Opitz Gbbb Syndrome |
|
Umbilical hernia, Abnormal heart morphology, Congenital diaphragmatic hernia, Patent foramen oval... |
ORPHA:2745 |
X-Linked Intellectual Disability, Nascimento Type |
|
Tetralogy of Fallot, Oligohydramnios, Mitral stenosis, Patent foramen ovale, Ventricular septal d... |
ORPHA:163956 |
Simpson-Golabi-Behmel Syndrome |
|
Cardiomyopathy, Umbilical hernia, Bundle branch block, Camptodactyly of finger, Polyhydramnios, C... |
ORPHA:373 |
Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Patent ductus arteriosus,... |
OMIM:277600 |
Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Patent foramen ova... |
OMIM:301043 |
Jacobsen Syndrome |
|
Chorioretinal coloboma, Intrauterine growth retardation, Ventricular septal defect, Atrial septal... |
OMIM:147791 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Aniridia, Iris coloboma, Ventricular septal defect |
ORPHA:251038 |
Ritscher-Schinzel Syndrome 2 |
|
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Camptodactyly, Patent d... |
OMIM:300963 |
Hajdu-Cheney Syndrome |
|
Umbilical hernia, Ventricular septal defect, Hydrocephalus, Iris coloboma, Patent ductus arteriosus |
OMIM:102500 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Heart murmur, Intracranial hemorr... |
ORPHA:163979 |
Curry-Jones Syndrome |
|
Iris coloboma, Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Chorioretinal coloboma, Umbilical hernia, Tetralogy of Fallot, Ret... |
OMIM:280000 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Mitral regurgitation, Patent foramen ovale, Ventricular septal defect, Atr... |
OMIM:615582 |
Down Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Abnormal fetal nasal bone visualization, Comp... |
OMIM:190685 |
Diets-Jongmans Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Breech presentation... |
OMIM:618846 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Branchial cyst, Retinal coloboma, Abnormal heart morphology, Atriove... |
ORPHA:508488 |
Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Intrauterine growth retardation, Ventricular septal defect, Small thena... |
OMIM:105650 |
Distal Duplication 5Q |
|
Chorioretinal coloboma, Dextrocardia, Ventricular septal defect |
ORPHA:96097 |
Holoprosencephaly 14 |
|
Alobar holoprosencephaly, Ventricular septal defect, Double outlet right ventricle, Aortic valve ... |
OMIM:619895 |
Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Umbilical hernia |
OMIM:192430 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Aplasia of the pectoralis major muscle, Camptodactyly of finger, Ventricular septal d... |
ORPHA:3138 |
Rubinstein-Taybi Syndrome 1 |
|
Hypoplastic left heart, Mitral valve prolapse, Ventricular septal defect, Patent foramen ovale, P... |
OMIM:180849 |
Semilobar Holoprosencephaly |
|
Cyclopia, Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Flexion cont... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Cyclopia, Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Flexion cont... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Cyclopia, Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Flexion cont... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Cyclopia, Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Flexion cont... |
ORPHA:93924 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital pulmonary airway malformation, Intrauterine growth retardation, Oligohydramnios, Conge... |
OMIM:611812 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:613001 |
Renal Agenesis |
|
Oligohydramnios, Hypertension, Ventricular septal defect |
ORPHA:411709 |
Femoral-Facial Syndrome |
|
Camptodactyly of finger, Encephalocele, Truncus arteriosus, Ventricular septal defect, Spina bifi... |
OMIM:134780 |
Syndromic Diarrhea |
|
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retarda... |
ORPHA:84064 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... |
ORPHA:352665 |
Brain-Lung-Thyroid Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal d... |
ORPHA:209905 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Atrioventricular canal defect, Spina bifida, Torticollis, Unilateral facial palsy, Patent ductus ... |
OMIM:619480 |
Hardikar Syndrome |
|
Premature rupture of membranes, Umbilical hernia, Portal hypertension, Patent foramen ovale, Vent... |
OMIM:301068 |
Van Esch-O'Driscoll Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Pulmonary valve atresia, Atrial septa... |
OMIM:301030 |
Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni... |
OMIM:617205 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Camptodactyly, Hypoplas... |
OMIM:616894 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... |
OMIM:607721 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Occipital encephalocele |
ORPHA:397715 |
Neurofibromatosis, Type I |
|
Hydrocephalus, Spina bifida, Aqueductal stenosis, Rhabdomyosarcoma, Hypertension |
OMIM:162200 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Intrauterine growth retardation, Oligohydramnios, Mu... |
ORPHA:464306 |
Coffin-Siris Syndrome 4 |
|
Mitral atresia, Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect,... |
OMIM:614609 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Caesarian section, Hydrocephalus, Ventricular septal defect |
OMIM:619575 |
Costello Syndrome |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrhythmia, Atrial... |
OMIM:218040 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Macroglossia, Abnormal right ventricle morphology, Retinal coloboma, Mitral valve prolapse, Ventr... |
ORPHA:500095 |
Robinow Syndrome |
|
Umbilical hernia, Abnormal heart morphology, Ventricular septal defect, Pulmonary valve atresia, ... |
ORPHA:97360 |
Lathosterolosis |
|
Intrauterine growth retardation, Meningocele |
ORPHA:46059 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect, Limb h... |
ORPHA:444072 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ... |
OMIM:620024 |
Pmm2-Cdg |
|
Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint contractures, Angina pectoris, ... |
ORPHA:79318 |
Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventri... |
OMIM:614294 |
Rabson-Mendenhall Syndrome |
|
Cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect,... |
ORPHA:769 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Ventricu... |
OMIM:178110 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Marden-Walker Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2461 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Umbilical hernia, Abnormal pulmonary valve morpholo... |
ORPHA:1507 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Orofaciodigital Syndrome Vi |
|
Hypoplastic left heart, Occipital meningocele |
OMIM:277170 |
Degcags Syndrome |
|
Premature birth, Echogenic fetal bowel, Intrauterine growth retardation, Patent foramen ovale, Ve... |
OMIM:619488 |
Phocomelia, Schinzel Type |
|
Intrauterine growth retardation, Hydrops fetalis, Meningocele |
ORPHA:2879 |
Diamond-Blackfan Anemia 10 |
|
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Ventric... |
OMIM:613309 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Congestive heart failure |
OMIM:123700 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Digital constriction ring, Meningocele, Flexion contracture of finger |
ORPHA:1010 |
Liver Disease, Severe Congenital |
|
Umbilical hernia, Ascites, Dilatation of the ventricular cavity, Intrauterine growth retardation,... |
OMIM:619991 |
Meier-Gorlin Syndrome 7 |
|
Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ... |
OMIM:617063 |
Arima Syndrome |
|
Hypertension, Occipital meningocele, Chorioretinal coloboma |
OMIM:243910 |
Smith-Lemli-Opitz Syndrome |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Decreased fetal movement, Ventricul... |
OMIM:270400 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Larsen Syndrome |
|
Spina bifida occulta, Intrauterine growth retardation, Atrial septal defect, Ventricular septal d... |
OMIM:150250 |
Maternal Phenylketonuria |
|
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Intrauterine growth retar... |
ORPHA:2209 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Hydrolethalus Syndrome 1 |
|
Intrauterine growth retardation, Complete atrioventricular canal defect, Ventricular septal defec... |
OMIM:236680 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Williams Syndrome |
|
Mitral regurgitation, Myopathy, Ventricular septal defect, Mitral valve prolapse, Bicuspid aortic... |
ORPHA:904 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Charge Syndrome |
|
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Retinal coloboma, Polyhydra... |
OMIM:214800 |
Ciliary Dyskinesia, Primary, 20 |
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Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... |
OMIM:615067 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Shoulder flexion contracture, Tetralogy of Fallot, Elbow flexion contracture, Intrauterine growth... |
OMIM:210710 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Ventricular septal defect, Aortopulmonary window, Pulmonary arterial hypertension, Polyhydramnios... |
OMIM:620025 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Total anomalous pulmonary venous return, Cardiomyopathy, Umbilical hernia, Diastasis recti, Conge... |
OMIM:312870 |
Catel-Manzke Syndrome |
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Umbilical hernia, Intrauterine growth retardation, Ventricular septal defect, Overriding aorta, D... |
OMIM:616145 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Camptodactyly of finger, Tr... |
OMIM:143095 |
Campomelic Dysplasia |
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Spinal dysraphism, Abnormal heart morphology, Contracture of the distal interphalangeal joint of ... |
OMIM:114290 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... |
ORPHA:466791 |
Orofaciodigital Syndrome Xiv |
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Occipital encephalocele, Optic disc coloboma, Retinal coloboma, Ventricular septal defect, Atrial... |
OMIM:615948 |
Ellis Van Creveld Syndrome |
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Atrioventricular canal defect, Abnormal heart valve morphology, Intrauterine growth retardation, ... |
ORPHA:289 |
Thauvin-Robinet-Faivre Syndrome |
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Retinal coloboma, Mitral valve prolapse, Ventricular septal defect, Coloboma, Macroglossia, Pedal... |
OMIM:617107 |
Holoprosencephaly 7 |
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Iris coloboma, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosence... |
OMIM:610828 |
Feingold Syndrome 1 |
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Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Tricuspid stenosis, Patent d... |
OMIM:164280 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Tricuspid regurgitation, Hydrops fetalis, Atrial septal defect, Ventricular septal defect |
OMIM:263520 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Aortic valve stenosis, Aortic regurgitation, Abnormal heart morphology, Intrauterine growth retar... |
ORPHA:268261 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Sinus bradycardia |
OMIM:619482 |
Zttk Syndrome |
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Aortic regurgitation, Intrauterine growth retardation, Ventricular septal defect, Breech presenta... |
OMIM:617140 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Ventricular sep... |
ORPHA:353281 |
Mckusick-Kaufman Syndrome |
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Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat... |
ORPHA:2473 |
Craniofacioskeletal Syndrome |
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Intrauterine growth retardation, Atrial septal defect, Patent ductus arteriosus, Ventricular sept... |
OMIM:300712 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Polyhydramnios, Ventricular septal defect |
OMIM:615503 |
Acrofacial Dysostosis 1, Nager Type |
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Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Hydrocephalus, A... |
OMIM:154400 |
Yunis-Varon Syndrome |
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Cardiomyopathy, Tetralogy of Fallot, Increased nuchal translucency, Ventricular septal defect, Ca... |
ORPHA:3472 |
Esophageal Atresia |
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Tetralogy of Fallot, Absence of stomach bubble on fetal sonography, Ventricular septal defect, Co... |
ORPHA:1199 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Congestive heart failure, Abnormal heart morphology, Patent foramen ovale, Ventricular septal def... |
ORPHA:444077 |
Coffin-Siris Syndrome |
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Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular sept... |
ORPHA:1465 |
Aicardi Syndrome |
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Spina bifida, Optic disc coloboma |
OMIM:304050 |
Congenital Tracheal Stenosis |
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Hypoplastic left heart, Fetal ascites, 5-minute APGAR score of 3, Oligohydramnios, Ventricular se... |
ORPHA:141127 |
Omodysplasia 1 |
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Ventricular septal defect, Atrial septal defect, Umbilical hernia |
OMIM:258315 |
Peters-Plus Syndrome |
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Umbilical hernia, Retinal coloboma, Intrauterine growth retardation, Diastasis recti, Ventricular... |
OMIM:261540 |
Early Infantile Epileptic Encephalopathy |
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Ventricular septal defect, Umbilical hernia |
ORPHA:1934 |
Microphthalmia, Syndromic 3 |
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Coloboma, Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Aortic valve stenosis, Abnormal heart morphology, Intrauterine growth retardation, Cardiac conduc... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Aortic valve stenosis, Abnormal heart morphology, Intrauterine growth retardation, Cardiac conduc... |
ORPHA:353277 |
Proboscis Lateralis |
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Chorioretinal coloboma, Optic disc coloboma, Ventricular septal defect, Cyclopia, Holoprosencepha... |
ORPHA:141099 |
Orotic Aciduria |
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Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Cardiospondylocarpofacial Syndrome |
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Muscular ventricular septal defect, Congenital diaphragmatic hernia, Mitral regurgitation, Dyspla... |
OMIM:157800 |
Viss Syndrome |
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Coronary sinus enlargement, Umbilical hernia, Fetal distress, Right ventricular hypertrophy, Mitr... |
OMIM:619472 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Dilated cardiomyopathy, Optic disc coloboma, Camptodactyly of finger, Tetralogy of Fallot, Patent... |
OMIM:607872 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hip contracture, Ventricular septal defect, Hypoplastic left heart, Mitral atresia, Foot dorsifle... |
OMIM:619503 |
Roberts-Sc Phocomelia Syndrome |
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Ankle flexion contracture, Stillbirth, Elbow flexion contracture, Polyhydramnios, Knee flexion co... |
OMIM:268300 |
Knobloch Syndrome 1 |
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Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele |
OMIM:267750 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitation, Mitral valve prolap... |
ORPHA:363700 |
Phace Association |
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Patent ductus arteriosus, Ventricular septal defect |
OMIM:606519 |
Otopalatodigital Syndrome, Type Ii |
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Stillbirth, Elbow contracture, Umbilical hernia, Hydrocephalus, Atrial septal defect, Spina bifida |
OMIM:304120 |
Coffin-Siris Syndrome 1 |
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Umbilical hernia, Tetralogy of Fallot, Intrauterine growth retardation, Congenital diaphragmatic ... |
OMIM:135900 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Camptodactyly of finger, Atrioventricular canal defect, Ventricular septal defect, Atrial septal ... |
ORPHA:3047 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Polyhydramnios, Intrauterine growth retardation, Congenital pulmonary airway malformation, Ventri... |
ORPHA:436252 |
Noonan Syndrome 1 |
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Chylothorax, Lymphedema, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal de... |
OMIM:163950 |
Williams-Beuren Syndrome |
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Myxomatous mitral valve degeneration, Umbilical hernia, Coronary artery stenosis, Intrauterine gr... |
OMIM:194050 |
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
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Patent ductus arteriosus, Cephalohematoma, Atrial septal defect, Ventricular septal defect |
OMIM:620558 |
Okamoto Syndrome |
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Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Oligohydram... |
ORPHA:2729 |
Renpenning Syndrome 1 |
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Joint contracture of the hand, Tetralogy of Fallot, Situs inversus totalis, Ventricular septal de... |
OMIM:309500 |
Townes-Brocks Syndrome 1 |
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Chorioretinal coloboma, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Atrial ... |
OMIM:107480 |
Mosaic Trisomy 20 |
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Dysplastic tricuspid valve, Intrauterine growth retardation, Abnormal mitral valve morphology, Ve... |
ORPHA:1724 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:616682 |
Cerebrocostomandibular Syndrome |
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Elbow flexion contracture, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Paten... |
OMIM:117650 |
Pallister-Hall Syndrome |
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Umbilical hernia, Atrioventricular canal defect, Intrauterine growth retardation, Oligohydramnios... |
ORPHA:672 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:600460 |
Mowat-Wilson Syndrome |
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Chorioretinal coloboma, Abnormal heart morphology, Ventricular septal defect, Atrial septal defec... |
OMIM:235730 |
Acrofacial Dysostosis, Cincinnati Type |
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Biventricular hypertrophy, Intrauterine growth retardation, Partial atrioventricular canal defect... |
OMIM:616462 |
Exstrophy-Epispadias Complex |
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Abnormal heart morphology, Hydrocephalus, Spina bifida |
ORPHA:322 |
Digeorge Syndrome |
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Umbilical hernia, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Patent duct... |
OMIM:188400 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect |
OMIM:618748 |
Holoprosencephaly 9 |
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Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus |
OMIM:610829 |
Pallister-Killian Syndrome |
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Aortic valve stenosis, Premature rupture of membranes, Camptodactyly of 2nd-5th fingers, Umbilica... |
OMIM:601803 |
Ulnar-Mammary Syndrome |
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Elbow flexion contracture, Arrhythmia, Ventricular septal defect |
OMIM:181450 |
Keutel Syndrome |
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Hypertension, Pulmonic stenosis, Ventricular septal defect |
OMIM:245150 |
Orofaciodigital Syndrome Type 14 |
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Retinal coloboma, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Sotos Syndrome |
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Ankle flexion contracture, Umbilical hernia, Abnormal heart morphology, Hip contracture, Ventricu... |
ORPHA:821 |
Johanson-Blizzard Syndrome |
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Generalized edema, Dilated cardiomyopathy, Anasarca, Ascites, Intrauterine growth retardation, Po... |
OMIM:243800 |
Yunis-Varon Syndrome |
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Cardiomyopathy, Tetralogy of Fallot, Intrauterine growth retardation, Patent foramen ovale, Ventr... |
OMIM:216340 |
Craniofacial Microsomia 1 |
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Hypoplasia of facial musculature, Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly... |
OMIM:164210 |
Penile Agenesis |
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Oligohydramnios, Fetal pyelectasis, Atrial septal defect, Ventricular septal defect |
ORPHA:49 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Elbow flexion contracture, Occipital meningocele |
OMIM:276820 |
Coffin-Siris Syndrome 2 |
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Abnormal heart morphology, Macroglossia, Intrauterine growth retardation |
OMIM:614607 |