Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
Atrial Standstill |
|
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... |
ORPHA:1344 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... |
OMIM:601493 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Ventricular septal defect, Intrauterine growth retardation, Patent ductus... |
OMIM:616276 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Abnormal placenta morphology, Intrauterine growt... |
ORPHA:439167 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Ventricular hypertrophy, Transient is... |
OMIM:115197 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Perimembranous ve... |
OMIM:618782 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Capillary leak, Abnormal heart morphology,... |
ORPHA:1041 |
Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Facial palsy, Restrictive cardiomyopathy, Dilated cardiomyopathy, H... |
OMIM:601419 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability |
OMIM:614896 |
Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Sudden ... |
ORPHA:300751 |
Long Qt Syndrome 15 |
|
Cardiac arrest, Prolonged QTc interval, Left ventricular noncompaction, Syncope, Ventricular bige... |
OMIM:616249 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... |
OMIM:613642 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Intrauterine growth retardation, Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopat... |
OMIM:614702 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Mitral regurgitation, Pulmonic stenosis, Left atrial enlargement, Sick sinus syndrome, Bicuspid a... |
OMIM:616201 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Anasarca, Cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Hypote... |
OMIM:261740 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... |
OMIM:617280 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Br... |
OMIM:618815 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Intrauterine growth retardation, Ventricular hypertrophy, Congestiv... |
OMIM:619048 |
Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tricuspid ... |
OMIM:614022 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Bradycardia, Ventricular septal defect, Hypertrophic cardiomyopathy |
OMIM:616277 |
Sick Sinus Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, Tetralogy of... |
OMIM:601005 |
Sudden Cardiac Failure, Infantile |
|
Myocarditis, Myocardial fibrosis, Sudden cardiac death, Congestive heart failure, Hypertrophic ca... |
OMIM:617222 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Ventricular septa... |
ORPHA:216694 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia, Neonatal death |
OMIM:257100 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Patent foramen ovale |
OMIM:617182 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation, Atrial septal defect |
OMIM:613087 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Umbilical hernia, Macroglossia, Facial edema |
ORPHA:95717 |
Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia |
OMIM:611938 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Chylopericardium, Tricuspid ... |
ORPHA:2414 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion, Anhydramnios |
OMIM:613885 |
Cantu Syndrome |
|
Umbilical hernia, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial ef... |
OMIM:239850 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Proximal amyotrophy, Muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle... |
OMIM:614302 |
Cardiomyopathy, Dilated, 2G |
|
Increased Z-disc width, Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemor... |
OMIM:619897 |
Craniofaciofrontodigital Syndrome |
|
Macroglossia, Pulmonary arterial hypertension, Mitral regurgitation, Edema, Ventricular septal de... |
ORPHA:363705 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Ventricular septal defect, Umbilical hernia, Polyhydramnios, Abnormal heart morp... |
ORPHA:254534 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia, Decreased level of coenzyme Q10 in skeletal muscle, Intrauterine growth retardation,... |
OMIM:614654 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia, Decreased fetal movement |
ORPHA:2898 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Intrauterine growth retardation, Pericardial effusion, Persistent feta... |
OMIM:618775 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
Aminoacylase 1 Deficiency |
|
Bradycardia, Breech presentation |
OMIM:609924 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Arrhythmia, Myocardial infarction, Pulmonary edema, Congestive heart failure, Ortho... |
ORPHA:330001 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Ventricular tachycardia, Tachycardia, Ventricular septal defect,... |
ORPHA:26793 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small placenta, Intrauterine growth retardation, Severe intrauterine growth retardation |
ORPHA:73272 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... |
OMIM:618773 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... |
OMIM:613426 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small placenta, Intrauterine growth retardation, Oligohydramnios |
ORPHA:397590 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Hypotension, Cardiomyopathy, Ventricular... |
OMIM:212138 |
Naxos Disease |
|
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... |
OMIM:601214 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Mitral regurgitation, ... |
ORPHA:66529 |
Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... |
OMIM:615745 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Neonatal death |
OMIM:273680 |
Familial Thyroid Dyshormonogenesis |
|
Bradycardia, Umbilical hernia, Macroglossia, Facial edema |
ORPHA:95716 |
Congenital Tricuspid Valve Dysplasia |
|
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Int... |
ORPHA:555874 |
Congenital Enterovirus Infection |
|
Myocarditis, Decreased fetal movement, Pleural effusion, Hypotension, Hydrops fetalis, Polyhydram... |
ORPHA:292 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... |
OMIM:616501 |
Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
Congenital Disorder Of Glycosylation, Type Il |
|
Decreased fetal movement, Edema, Pericardial effusion, Abnormal cardiac septum morphology, Ascites |
OMIM:608776 |
Fixed Subaortic Stenosis |
|
Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At... |
ORPHA:3092 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Pleural effusion, Cerebral hemorrhage, Patent ductus arteriosus, B... |
OMIM:617397 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Patent foramen ovale, Bradycardia, Ventri... |
ORPHA:542306 |
Familial Short Qt Syndrome |
|
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... |
OMIM:617228 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Cardiomyopathy, EMG: myopathic abnormalities, Bradycardia, Ragged-red muscle fibers, ... |
OMIM:609286 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Dilated cardiomyopathy, H... |
OMIM:252011 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... |
OMIM:604772 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia, Umbilical hernia, Macroglossia |
ORPHA:226313 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Hypotension, Pulmonary edema, Premature birth, Bradycardia, Tachycardia |
ORPHA:70587 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Cardiomyopathy, Oligohydramnios... |
ORPHA:1909 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
Coronary Arterial Fistula |
|
Atrial septal defect, Bacterial endocarditis, Abnormal heart morphology, Angina pectoris, Patent ... |
ORPHA:2041 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:615917 |
Cln3 Disease |
|
Bradycardia, T-wave inversion, Left ventricular hypertrophy |
ORPHA:228346 |
Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Proximal amyotrophy, Spinal muscular atrophy, Decreased ... |
OMIM:253300 |
Nemaline Myopathy 9 |
|
Fetal akinesia sequence, Breech presentation, Ventricular septal defect, Polyhydramnios, Nemaline... |
OMIM:615731 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Camptodactyly of finger, Intrauterine growth retardation, Ven... |
ORPHA:1937 |
Fetal Akinesia Deformation Sequence 1 |
|
Short umbilical cord, Camptodactyly of finger, Nonimmune hydrops fetalis, Fetal akinesia sequence... |
OMIM:208150 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic dia... |
OMIM:612124 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:614429 |
Lipoyltransferase 1 Deficiency |
|
Bradycardia, Pulmonary arterial hypertension |
OMIM:616299 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... |
OMIM:617300 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Camptodactyly, Fetal akinesia sequence, Decreased fetal movement, Hydranenc... |
OMIM:256520 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Decreased fetal movement, Limb hypertonia, Atrial septal defect, Polyhydramnios, Pericardial effu... |
OMIM:620070 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Anencephaly, Hypoplastic left heart, Spina bifida |
ORPHA:2476 |
Congenital Heart Defects, Multiple Types, 4 |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Left ventricular outflow ... |
OMIM:615779 |
Congenital Heart Defects, Multiple Types, 5 |
|
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Doub... |
OMIM:617912 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Atrial septal defect, Le... |
OMIM:612098 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial septal defect, B... |
OMIM:618719 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Camptodactyly, Small thenar eminence, Spina bifida, Small hypothenar eminence, Mitral valve prola... |
OMIM:211960 |
Romano-Ward Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Abnormality of prenatal development or birth, Torsade de... |
ORPHA:101016 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Congenital Heart Defects, Multiple Types, 2 |
|
Tetralogy of Fallot, Ventricular septal defect, Left ventricular outflow tract obstruction, Subva... |
OMIM:614980 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
Atrial Septal Defect 2 |
|
Dextrocardia, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Ventricular septal d... |
OMIM:607941 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, ... |
OMIM:614954 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Camptodactyly, Atrial septal defect, Ventricular septal defect, Umbili... |
OMIM:235510 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... |
ORPHA:99095 |
Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Pericarditis, Pericardial effusion |
ORPHA:231111 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... |
OMIM:611818 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus ar... |
OMIM:249670 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial effu... |
OMIM:619313 |
Cardiac-Urogenital Syndrome |
|
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Hypoplastic left heart, Atrial septal defec... |
OMIM:618280 |
Necrotizing Enterocolitis |
|
Hypotension, Edema, Abnormal heart morphology, Shock, Premature birth, Bradycardia, Ascites |
ORPHA:391673 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Atrioventricular canal defect, Premature birth, Bradycardia, Third degree atr... |
ORPHA:40366 |
Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia, Pedal edema, Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
Cardiac Diverticulum |
|
Abnormality of the diaphragm, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallo... |
ORPHA:1686 |
Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Angioedema, Abnormal heart valve morphology, Pericardial effusion, Pleur... |
ORPHA:36412 |
Glutamine Deficiency, Congenital |
|
Bradycardia, Flexion contracture, Camptodactyly, Neonatal death |
OMIM:610015 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormality of blood circulation, Abnormal ventriculoarteria... |
ORPHA:860 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block, Joint contracture of the 5th finger |
OMIM:614407 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Muscular dystrophy, Skeletal muscle ... |
OMIM:616812 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... |
OMIM:609621 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Cardiomyocyte hypertrophy, Shoulder girdle muscle ... |
ORPHA:263297 |
Microcephaly-Cardiomyopathy Syndrome |
|
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Aicardi-Goutieres Syndrome 9 |
|
Edema, Left ventricular hypertrophy, Hypertension, Intrauterine growth retardation, Portal hypert... |
OMIM:619487 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cardiomyopathy, Skeletal muscle atrophy, Pericardial effusion |
OMIM:620089 |
Peripartum Cardiomyopathy |
|
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... |
ORPHA:563 |
Long Qt Syndrome 5 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... |
OMIM:613695 |
Atrial Septal Defect, Sinus Venosus Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... |
ORPHA:99105 |
Developmental And Epileptic Encephalopathy 101 |
|
Bradycardia, Third degree atrioventricular block, Limb joint contracture |
OMIM:619814 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Proximal Spinal Muscular Atrophy |
|
Decreased fetal movement, Facial diplegia, Distal lower limb muscle weakness, Atrial septal defec... |
ORPHA:70 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... |
OMIM:140400 |
Long Qt Syndrome 8 |
|
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... |
OMIM:618447 |
Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Pedal edema, Elevated pulmonary artery pressure, Pulmonary edema, Pe... |
ORPHA:199241 |
Restrictive Dermopathy |
|
Short umbilical cord, Camptodactyly of finger, Dextrocardia, Decreased fetal movement, Premature ... |
ORPHA:1662 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Joint contracture, Limb hypertonia |
OMIM:614498 |
Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... |
OMIM:619464 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Decreased fetal movement, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... |
OMIM:612240 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Breech presentation, Ventricular septal defect, Hypertension, Intrauterine growth retardation, Br... |
OMIM:614653 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Supravalvular ... |
ORPHA:439232 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular systolic dysfunction, Mitral regurgitation, Left ventricular hypertrophy, Left v... |
OMIM:619167 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Anasarca, Polyhydramnios, Pericardial effusion, Ascites, Pleural effusion, Coloboma |
OMIM:618183 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus, Hydranencephaly |
OMIM:601355 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Atrial septal defect, Spina bifida, Atrioventricular canal defect, Tricuspid regurgitation, Bicus... |
ORPHA:1120 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia, Umbilical hernia, Macroglossia, Edema |
ORPHA:90673 |
Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Edema, Pericardial effusion, Pleural effusion, Myositis, Ascites |
ORPHA:93552 |
Acute Interstitial Pneumonia |
|
Pleural effusion, Peripheral edema, Hypertension, Pericardial effusion |
ORPHA:79126 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation |
OMIM:600919 |
Cardiomyopathy, Dilated, 1G |
|
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... |
OMIM:604145 |
Alkuraya-Kucinskas Syndrome |
|
Camptodactyly, Pleural effusion, Edema, Hydrocephalus, Pericardial effusion, Arthrogryposis multi... |
OMIM:617822 |
Ritscher-Schinzel Syndrome 1 |
|
Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Hydrocephalus, Atrial septa... |
OMIM:220210 |
Mosaic Trisomy 16 |
|
Atrial septal defect, Ventricular septal defect, Intrauterine growth retardation, Abnormal heart ... |
ORPHA:1708 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation, Hydrocephalus |
ORPHA:83473 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Macroglossia, Diastasis recti, Camptodactyly, Umbilical hernia, Polyhydramnios, Intrauterine grow... |
ORPHA:254528 |
Lambert Syndrome |
|
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:1296 |
Sick Sinus Syndrome 1 |
|
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... |
OMIM:608567 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Ventricular septal defect, Atrial septal defect, Congestive heart failure, Paroxy... |
ORPHA:49827 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... |
OMIM:614021 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Abnormal myocardium morphology, Pericardial effusion, Pedal edem... |
ORPHA:77259 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Pericardial effusion |
ORPHA:411703 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema, Cardiomyopathy, Pericardial ... |
OMIM:212065 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Bundle branch block, Bradycardia, Epistaxis, Pulmonary arterial hypertension, Diffus... |
ORPHA:99827 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Atrial septal defect, Tricuspid regurgitation, Patent foramen ovale, P... |
OMIM:618652 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Fibrofatty replacem... |
OMIM:609040 |
Illum Syndrome |
|
Bradycardia, Arthrogryposis multiplex congenita, Calcinosis |
OMIM:208155 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Situs inversus totalis, Spinal dysraphism, Hydrocephalus, Meningocele, Ventricular... |
ORPHA:1908 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Bradycardia, Pulmonary arterial hypertension, Skeletal muscle atrophy |
OMIM:619272 |
Long Qt Syndrome 3 |
|
Prolonged QTc interval, Nonimmune hydrops fetalis, Ventricular tachycardia, Hydrops fetalis, Tors... |
OMIM:603830 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Tachycardia, Muscular dystrophy, Skeletal muscle hypertrophy, Centrally nucleated skeletal muscle... |
OMIM:613327 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Ventricular septal defect, Hypertension, Interphalangeal thumb joint contra... |
OMIM:613870 |
Tetanus |
|
Bradycardia, Hypertension, Tachycardia |
ORPHA:3299 |
Grange Syndrome |
|
Patent ductus arteriosus, Hypertension, Aortic regurgitation, Ventricular septal defect |
ORPHA:79094 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Meningocele, Hydrocephalus, Atrial septal defect, Intra... |
OMIM:611134 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Camptodactyly of finger, Dextrocardia |
ORPHA:1759 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... |
OMIM:610193 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect, Intracranial hemorrhage, Hy... |
OMIM:614424 |
Trichohepatoenteric Syndrome 1 |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Intrauterine g... |
OMIM:222470 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... |
OMIM:613873 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Ventricular septal defect, Hypertensi... |
OMIM:617021 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect |
ORPHA:1388 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Coloboma, Anterior encephalocele, Ventricular septal defect |
OMIM:601357 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Edema, Pericardial effusion, Pleural effusion, Ascites |
ORPHA:2905 |
Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Hydrops fetalis, Overriding aorta, Atrial flutte... |
OMIM:601927 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Hydrocephalus, Umbilical hernia, Intrauterine growth retardation, Pate... |
OMIM:612938 |
Alg9-Cdg |
|
Torticollis, Decreased fetal movement, Ventricular septal defect, Atrial septal defect, Hydrops f... |
ORPHA:79328 |
Noonan Syndrome 8 |
|
Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Left ve... |
OMIM:615355 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia, Intrauterine growth retardation, Congenital foot contractures, Limb hypertonia |
ORPHA:565624 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Vent... |
ORPHA:1354 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Pleural effusion, Generalized edema, Ascites |
ORPHA:90362 |
Q Fever |
|
Myocarditis, Vasculitis, Endocarditis, Abnormal heart valve morphology, Abnormal left ventricular... |
ORPHA:781 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Congenital muscular torticollis, Spina bifida |
ORPHA:2345 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia, Umbilical hernia, Macroglossia, Facial edema |
ORPHA:90674 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Subconjunctival hemorrhage, Pericardial effusion, Pleural effusion, Epistaxis |
ORPHA:464329 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Atrial septal defect, Ventricular septal defect, Umbilical hernia, Single umbilical artery, Bicus... |
ORPHA:329224 |
Noonan Syndrome 12 |
|
Polyhydramnios, Supravalvular aortic stenosis, Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
D-Glyceric Aciduria |
|
Bradycardia, Patent ductus arteriosus |
OMIM:220120 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Hypotension, Periorbital edema, Facial edema, Cerebral edema, Subconjunctival hemorr... |
ORPHA:319213 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Left ventricular h... |
OMIM:108900 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Abnorma... |
ORPHA:1329 |
Isolated Right Ventricular Hypoplasia |
|
Systolic heart murmur, Right ventricular failure, Atrial septal defect, Right-to-left shunt, Card... |
ORPHA:439 |
Lethal Congenital Contracture Syndrome 2 |
|
Decreased fetal movement, Edema, Ventricular septal defect, Polyhydramnios, Skeletal muscle atrop... |
OMIM:607598 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Humero-Radial Synostosis |
|
Meningocele, Chorioretinal coloboma, Iris coloboma |
ORPHA:3265 |
Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Arrhythmia, Cardiomyopathy |
OMIM:249270 |
Aortic Arch Interruption |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... |
ORPHA:2299 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Aicardi-Goutieres Syndrome 7 |
|
Vasculitis, Hematochezia, Edema, Limb hypertonia, Hypertension, Intrauterine growth retardation, ... |
OMIM:615846 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Lymphoproliferative Syndrome 1 |
|
Pleural effusion, Pericardial effusion |
OMIM:613011 |
Joubert Syndrome 18 |
|
Camptodactyly, Ventricular septal defect, Occipital encephalocele, Intrauterine growth retardatio... |
OMIM:614815 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia, Iris coloboma, Ventricular septal defect |
ORPHA:2143 |
Sepsis In Premature Infants |
|
Hypotension, Edema, Caesarian section, Premature birth, Bradycardia, Tachycardia |
ORPHA:90051 |
Juvenile Idiopathic Arthritis |
|
Pericardial effusion, Joint swelling |
ORPHA:92 |
Triploidy |
|
Macroglossia, Iris coloboma, Hydrocephalus, Meningocele, Polyhydramnios, Holoprosencephaly, Intra... |
ORPHA:3376 |
Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Hydrops fetalis, Abnormal heart valve morphology, Mitral valve c... |
ORPHA:77261 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615996 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Congenital diaphragmatic hernia, Premature birth |
ORPHA:63862 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Decreased fetal movement, Increased variability in muscle fiber diameter, Ventricular s... |
OMIM:616816 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Tatton-Brown-Rahman Syndrome |
|
Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Tricuspi... |
OMIM:615879 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Camptodactyly, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Umbilical hernia, Intrauterine growth retardation, Bicuspid aortic val... |
OMIM:617751 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Umbilical hernia, Mitral valve prolapse, Pericardial effusion |
ORPHA:536532 |
Tricuspid Atresia |
|
Hypoplasia of right ventricle, Ventricular septal defect, Atrial septal defect, Patent foramen ov... |
ORPHA:1209 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pulmonary edema, Congestive heart failure, Pericardial effusion, Dilated ca... |
ORPHA:73224 |
Verheij Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Branchial cyst, Truncus arteriosus, C... |
OMIM:615583 |
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 |
|
Bilateral wrist flexion contracture, Cardiomegaly, Intrauterine growth retardation, Lower limb hy... |
ORPHA:97297 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Umbilical hernia, Abnormal heart morphology, Bicuspid aortic valve, Pa... |
ORPHA:500159 |
Gitelman Syndrome |
|
Raynaud phenomenon, Rhabdomyolysis, Abnormal T-wave, Syncope, Palpitations, Low-to-normal blood p... |
ORPHA:358 |
Aymé-Gripp Syndrome |
|
Camptodactyly, Hydrocephalus, Pericardial effusion, Patent ductus arteriosus, Congenital diaphrag... |
ORPHA:1272 |
Myhre Syndrome |
|
Camptodactyly, Atrial septal defect, Ventricular septal defect, Hypertension, Intrauterine growth... |
OMIM:139210 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Hypoplastic left heart, Ventricular septal defect, Atrial septal ... |
ORPHA:392 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Polyhydramnios, Ventricular septal defect |
ORPHA:3469 |
Neuroleptic Malignant Syndrome |
|
Rhabdomyolysis, Dehydration, Hypotension, Arrhythmia, Hypertension, Pulmonary embolism, Bradycard... |
ORPHA:94093 |
Laubry-Pezzi Syndrome |
|
Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Ventricular se... |
ORPHA:99094 |
Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Spina bifida, Arrhythmia, Lymphedema, Rhabdomyosarcoma, Coloboma |
ORPHA:2874 |
Recombinant Chromosome 8 Syndrome |
|
Camptodactyly, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal d... |
OMIM:179613 |
Diabetic Embryopathy |
|
Spinal dysraphism, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defec... |
ORPHA:1926 |
Emanuel Syndrome |
|
Torticollis, Decreased fetal movement, Pulmonic stenosis, Ventricular septal defect, Atrial septa... |
OMIM:609029 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Pulmonic stenosis, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertrophy,... |
ORPHA:284169 |
Limb Body Wall Complex |
|
Encephalocele, Short umbilical cord, Diastasis recti, Amniotic constriction ring, Iris coloboma, ... |
ORPHA:2369 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Breech presentation, Iris coloboma, Hydrocephalus, Occipital encephaloce... |
OMIM:249000 |
Eisenmenger Syndrome |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Bacterial endocarditis, Atr... |
ORPHA:97214 |
Subependymal Nodular Heterotopia |
|
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele |
ORPHA:101030 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Congenital diaphragmatic hernia, Neonatal death, Ventricular septal defect |
OMIM:615524 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Glossopharyngeal Neuralgia |
|
Bradycardia, Jaw claudication, Syncope |
ORPHA:221098 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
Diamond-Blackfan Anemia 6 |
|
Mitral regurgitation, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Ventr... |
OMIM:612561 |
Chromosome 5Q12 Deletion Syndrome |
|
Macroglossia, Increased nuchal translucency, Hypotension, Atrial septal defect, Ventricular septa... |
OMIM:615668 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Limb muscle weakness |
OMIM:207950 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Diastasis recti, Large placenta, Premature birth |
ORPHA:254519 |
Leigh Syndrome With Leukodystrophy |
|
Ventricular septal defect, Hypertrophic cardiomyopathy |
ORPHA:255241 |
Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage, Chorioretinal coloboma |
ORPHA:2481 |
Li-Campeau Syndrome |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619189 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Single umbilical artery, Intrauterine growth retardation, Hypoplastic left heart, Ventricular sep... |
ORPHA:2772 |
Muscle-Eye-Brain Disease |
|
Meningocele, Myopathy, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Pleural effusion, Ventricular septal defect, Hydrops fetalis, Polyhydramnios, Intrauterine growth... |
OMIM:616897 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Hip con... |
OMIM:616651 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Palpitations, Hypertension, Supraventricular arrhythmia, Congestive heart failure, P... |
ORPHA:91347 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Restrictive Dermopathy 1 |
|
Premature rupture of membranes, Short umbilical cord, Decreased fetal movement, Atrial septal def... |
OMIM:275210 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
3C Syndrome |
|
Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Hydrocephalus, Atrial septa... |
ORPHA:7 |
Wildervanck Syndrome |
|
Meningocele, Facial palsy |
ORPHA:3456 |
Cat Eye Syndrome |
|
Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Umbil... |
OMIM:115470 |
Encephalitis Lethargica |
|
Bradycardia, Upper limb muscle weakness |
ORPHA:83600 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Aplasia of the left hemidiaphragm, Myelomeningocele, Hydrocephalus, Spina bifida, T... |
ORPHA:2437 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Umbilical hernia, Hydrocephalus, Tetralogy of Fa... |
OMIM:612582 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy |
OMIM:615279 |
Tyshchenko Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Polyhydramnios, Intrauterine ... |
OMIM:615102 |
Chédiak-Higashi Syndrome |
|
Pleural effusion, Epistaxis, Pericardial effusion, Edema |
ORPHA:167 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia, Umbilical hernia, Macroglossia |
OMIM:218700 |
Scimitar Syndrome |
|
Pulmonary arterial hypertension, Dextrocardia, Hypoplastic left heart, Atrial septal defect, Hear... |
ORPHA:185 |
Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Hydrops fetalis, Polyhydramnios, Neonat... |
OMIM:215140 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Arthrogryposis multiplex congenita, Intrauterine growth retardation, Congenital contracture, Sinu... |
OMIM:618397 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Macroglossia, Camptodactyly, Ventricular septal defect, Arthrogryposis-like hand anomaly, Umbilic... |
ORPHA:369891 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular septal de... |
ORPHA:1488 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Dextrocardia, Ventricular septal defect, Atrial septal defect, Spina bif... |
ORPHA:99776 |
Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot,... |
OMIM:613854 |
Lymphangioleiomyomatosis |
|
Hydrocephalus, Chylopericardium, Gastrointestinal hemorrhage, Lymphedema, Chylothorax, Ascites |
ORPHA:538 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Intrauterine growth retardation, Scapular winging, Spina bifida |
ORPHA:1327 |
Pelger-Huet Anomaly |
|
Umbilical hernia, Lower limb hypertonia, Foot dorsiflexor weakness, Ventricular septal defect |
OMIM:169400 |
Emanuel Syndrome |
|
Breech presentation, Decreased fetal movement, Pulmonic stenosis, Ventricular septal defect, Atri... |
ORPHA:96170 |
Double Outlet Right Ventricle |
|
Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Double... |
ORPHA:3426 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Meningocele, Umbilical hernia, Intrauterine growth retardation, Spina bi... |
ORPHA:2311 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypertension... |
ORPHA:369929 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Increased nuchal translucency, Mitral regurgitation, Ventricular s... |
OMIM:620066 |
King-Denborough Syndrome |
|
Minicore myopathy, Breech presentation, Decreased fetal movement, Ventricular septal defect, Type... |
OMIM:619542 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ej... |
ORPHA:980 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Macroglossia, Diastasis recti, Spinal dysraphism, Pulmonary arterial hypertension, Camptodactyly,... |
ORPHA:96334 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612946 |
Histiocytoid Cardiomyopathy |
|
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Hydrocephalus... |
ORPHA:137675 |
Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Left ventricular systolic dysfunction, Edema, Hydrops fetalis, P... |
ORPHA:51608 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Truncus arteriosus, Tricuspid regurgitation |
OMIM:616589 |
Hennekam Syndrome |
|
Camptodactyly of finger, Hydrops fetalis, Pericardial effusion, Lymphedema, Chylothorax, Ascites |
ORPHA:2136 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Atrioventricular canal d... |
OMIM:306955 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic right heart, Intrauterine growth ret... |
OMIM:618142 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Bradycardia, Umbilical hernia, Macroglossia, Facial edema |
ORPHA:226307 |
Anophthalmia Plus Syndrome |
|
Iris coloboma, Spina bifida |
ORPHA:1104 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Spina bifida |
ORPHA:957 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Atrial septal defect, Ventri... |
OMIM:608149 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Marburg Hemorrhagic Fever |
|
Dehydration, Hypotension, Capillary leak, Subconjunctival hemorrhage, Shock, Hypovolemia, Interna... |
ORPHA:99826 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Carpenter Syndrome 1 |
|
Camptodactyly, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Umbilical hern... |
OMIM:201000 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Tetralogy of Fallo... |
ORPHA:1335 |
Lateral Meningocele Syndrome |
|
Meningocele, Umbilical hernia, Iris coloboma, Ventricular septal defect |
ORPHA:2789 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Camptodactyly, Wolff-Parkinson-White syndrome, Pulmonic stenosis, Atrial septal defect, Ventricul... |
OMIM:619343 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Meningocele, Umbilical hernia, Hydrocephalus, Decreased muscle mass, B... |
OMIM:130720 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Polyhydramnios, Single umbilical artery, Premature birth, Ventricular septal defect |
ORPHA:2256 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Umbilical hernia, Ventricular septa... |
OMIM:600001 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Transposition of the great arteries, Tetralogy of Fallot, Ventricular septa... |
ORPHA:261243 |
Transaldolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Intrauterine growth retardation, Telangiectasia,... |
OMIM:606003 |
Focal Dermal Hypoplasia |
|
Diastasis recti, Camptodactyly of finger, Iris coloboma, Spina bifida, Ventricular septal defect,... |
ORPHA:2092 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Increased nuchal translucency, Ventricular septal defect, Atrial septal defect, Tricuspid regurgi... |
OMIM:618870 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Hydrocephalus |
OMIM:602501 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morphology, ... |
ORPHA:3405 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal ... |
ORPHA:210122 |
Beckwith-Wiedemann Syndrome |
|
Macroglossia, Diastasis recti, Subchorionic septal cyst, Umbilical hernia, Polyhydramnios, Premat... |
ORPHA:116 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Knee flexio... |
OMIM:603387 |
Pagod Syndrome |
|
Encephalocele, Situs inversus totalis, Hypoplastic left heart, Spina bifida, Meningocele, Arrhyth... |
ORPHA:991 |
Chromosome 18Q Deletion Syndrome |
|
Dysplastic pulmonary valve, Atrial septal defect, Ventricular septal defect, Umbilical hernia, Dy... |
OMIM:601808 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept... |
ORPHA:290 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Intrauterine growth retarda... |
ORPHA:1913 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cyclopia, Dextrocardia, Ventricular septal defect, Atrial septal defect, Hydroceph... |
OMIM:264480 |
Sheehan Syndrome |
|
Bradycardia, Palpitations, Orthostatic hypotension |
ORPHA:91355 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Intrauterine growth retardation, Myelomeningo... |
ORPHA:2876 |
Contractural Arachnodactyly, Congenital |
|
Camptodactyly, Mitral regurgitation, Distal arthrogryposis, Atrial septal defect, Ventricular sep... |
OMIM:121050 |
Lambotte Syndrome |
|
Semilobar holoprosencephaly, Intrauterine growth retardation, Ventricular septal defect |
OMIM:245552 |
Filippi Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:272440 |
Trisomy 13 |
|
Iris coloboma, Atrial septal defect, Ventricular septal defect, Hydrops fetalis, Intrauterine gro... |
ORPHA:3378 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:2516 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Increased nuchal translucency, Single umbilical artery, Intrauterine growth retardation, Ventricu... |
OMIM:617635 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Intrauterine growth retardation, Anencephaly |
OMIM:603194 |
19P13.12 Microdeletion Syndrome |
|
Mitral regurgitation, Atrial septal defect, Ventricular septal defect, Arrhythmia, Intrauterine g... |
ORPHA:254346 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1166 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Ventricular septal defect |
ORPHA:401935 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Ventricular septal defect, Left ventricular hypertrophy, Hyperte... |
OMIM:615474 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:617992 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Oligohydramnios, Pulmonic stenosis, Ventricular septal defect |
ORPHA:139466 |
Criss-Cross Heart |
|
Pulmonic stenosis, Ventricular septal defect, Supravalvular aortic stenosis, Abnormal mitral valv... |
ORPHA:1461 |
Trisomy 18 |
|
Cyclopia, Camptodactyly of finger, Iris coloboma, Ventricular septal defect, Atrial septal defect... |
ORPHA:3380 |
Atrial Septal Defect 1 |
|
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Second degree atr... |
OMIM:108800 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Polyhydramnios, Bicuspid aortic valve, Patent foramen ovale, Oligohydr... |
OMIM:618027 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid atresia, Mitral regurgitation, Double inlet left ventricle, Pulmonic stenosis, Ventricu... |
OMIM:212093 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect |
OMIM:231060 |
Right Atrial Isomerism |
|
Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Tetralogy of ... |
OMIM:208530 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Meningocele, Hydranencephaly, Ventricular septal defect, Spina bifida, Intraute... |
ORPHA:1393 |
Lymphedema-Distichiasis Syndrome |
|
Nonimmune hydrops fetalis, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Predominan... |
OMIM:153400 |
Noonan Syndrome 10 |
|
Increased nuchal translucency, Mitral regurgitation, Pleural effusion, Pulmonic stenosis, Ventric... |
OMIM:616564 |
Prune Belly Syndrome |
|
Aplasia of the abdominal wall musculature, Atrial septal defect, Tetralogy of Fallot, Ventricular... |
ORPHA:2970 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1770 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventric... |
OMIM:618316 |
Craniorachischisis |
|
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly, Congenital ... |
ORPHA:63260 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplasia of right ventricle, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Umbi... |
ORPHA:2255 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Dextrocardia, Ventricular septal defect |
OMIM:618067 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect, Knee flexion contracture, Elbow contracture, Contracture of the proxim... |
OMIM:617201 |
Alagille Syndrome |
|
Ventricular septal defect, Atrial septal defect, Hypertension, Intrauterine growth retardation, S... |
ORPHA:52 |
Meacham Syndrome |
|
Dextrocardia, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Atrial septal defect, Te... |
OMIM:608978 |
Costello Syndrome |
|
Macroglossia, Pulmonic stenosis, Ventricular septal defect, Polyhydramnios, Thickened nuchal skin... |
ORPHA:3071 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Iris coloboma, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Spi... |
ORPHA:508498 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Polyhydramnios, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Iris coloboma, Hydranencephaly, Hydrocephalus, Spina bifida, Retinal col... |
ORPHA:2839 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Donnai-Barrow Syndrome |
|
Iris coloboma, Ventricular septal defect, Umbilical hernia, Congenital diaphragmatic hernia, Diap... |
OMIM:222448 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Low APGAR score, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:79243 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Limb hypertonia, Ventricular septal defect, Intrauterine growth re... |
OMIM:619909 |
Rere-Related Neurodevelopmental Syndrome |
|
Iris coloboma, Ventricular septal defect, Intrauterine growth retardation, Abnormal heart morphol... |
ORPHA:494344 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Atrial septal defect, Hydrocephalus, Intrauterine growth retardation, ... |
OMIM:614576 |
Fountain Syndrome |
|
Facial edema, Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Increased nuchal translucency, Atrial septal defect, Ventricular septal defect, Abnormal heart mo... |
OMIM:618494 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular septal defect, L... |
OMIM:300967 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Iris coloboma, Ventricular septal defect, Atrial septal defect, Hypertension, Double outlet right... |
ORPHA:371428 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Macroglossia, Dehydration, Abnormal placenta morphology, Ventricular septal defect, Umbilical her... |
ORPHA:96191 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus |
OMIM:218350 |
Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Iris coloboma, Atrial septal defect, Ventricular septal defect, Intraute... |
OMIM:244300 |
Congenital Disorder Of Glycosylation, Type It |
|
Rhabdomyolysis, Pulmonary arterial hypertension, Ventricular septal defect, Aborted sudden cardia... |
OMIM:614921 |
Trisomy 1Q |
|
Increased nuchal translucency, Camptodactyly of finger, Ventricular septal defect, Hydrocephalus,... |
ORPHA:261344 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect |
OMIM:613730 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
Noonan Syndrome 2 |
|
Increased nuchal translucency, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect... |
OMIM:605275 |
Gm1 Gangliosidosis |
|
Macroglossia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Vent... |
ORPHA:354 |
Desbuquois Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... |
ORPHA:1425 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Patent ductus arteriosus |
ORPHA:77298 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Mitral atresia, Tetralogy of Fallot, Bicuspid aortic valve, Double out... |
OMIM:109730 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Camptodactyly, Atrial septal defect, Ventricular septal defect, Polyhydramnios, Intrauterine grow... |
OMIM:617360 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Bradycardia, Pulmonary insufficiency, Oligohydramnios, Congenital diaphragmatic hernia |
OMIM:614437 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:447980 |
Ogden Syndrome |
|
Arrhythmia, Cardiogenic shock, Torticollis, Ventricular septal defect |
ORPHA:276432 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, In... |
OMIM:612562 |
Kapur-Toriello Syndrome |
|
Iris coloboma, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Retinal ... |
ORPHA:2328 |
Microphthalmia, Syndromic 9 |
|
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Intraute... |
OMIM:601186 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Ventricular septal defect, Hydrocephalus, Polyhydramnios, Holoprosencephaly, Intrauterine ... |
OMIM:269860 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Macroglossia, Increased nuchal translucency, Atrial septal defect, Ventricular septal defect, Atr... |
ORPHA:453499 |
3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia, Patent ductus arteriosus, Neonatal death |
OMIM:617248 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonic stenosis, Ventricular septal defect, Polyhydramnios, Intrauterine growth retardation, Do... |
OMIM:301056 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Hypoplastic left heart, Ventricular septal defect, Atrial septal... |
ORPHA:99050 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Chorioretinal coloboma |
ORPHA:2031 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Iris coloboma, Ventricular septal defect, Hydrocephalus, Arrhythmia, Atrial septal defect, Overri... |
OMIM:309801 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Hydrocephalus, Hydrops fetalis, Polyhydramnios, Anencephaly, Occipital meni... |
OMIM:616546 |
Neu-Laxova Syndrome 2 |
|
Decreased fetal movement, Edema, Spina bifida, Polyhydramnios, Intrauterine growth retardation |
OMIM:616038 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Hydromyelia, Lipomyelomeningocele, Occipital meningocele, Neural tube... |
ORPHA:268810 |
Noonan Syndrome 4 |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Hypertrophic ... |
OMIM:610733 |
Chromosome 17P13.1 Deletion Syndrome |
|
Decreased fetal movement, Hydrocephalus, Spina bifida, Umbilical hernia, Knee flexion contracture... |
OMIM:613776 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Tric... |
OMIM:617478 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Bradycardia, Dehydration, Edema, Dilated cardiomyopathy |
ORPHA:79404 |
Iniencephaly |
|
Encephalocele, Spinal dysraphism, Myelomeningocele, Spina bifida, Hydrocephalus, Polyhydramnios, ... |
ORPHA:63259 |
Sarcoidosis, Susceptibility To, 1 |
|
Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion |
OMIM:181000 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Dehydration, Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Pate... |
OMIM:208085 |
Jansen-De Vries Syndrome |
|
Central diaphragmatic hernia, Bicuspid aortic valve, Ventricular septal defect |
OMIM:617450 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect |
OMIM:620210 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atr... |
OMIM:265380 |
Holoprosencephaly |
|
Encephalocele, Spinal dysraphism, Abnormal pulmonary valve morphology, Cyclopia, Iris coloboma, H... |
ORPHA:2162 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
3P25.3 Microdeletion Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Knee flexion contracture, Ske... |
ORPHA:435638 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Camptodactyly, Mitral regurgitation, Ventricular septal defect |
OMIM:301039 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Right ventricular hypertrophy, Patent foramen ovale, Ventricular septal defect |
OMIM:614261 |
Amish Lethal Microcephaly |
|
Limb hypertonia, Decreased fetal movement, Spina bifida |
ORPHA:99742 |
Yellow Fever |
|
Reduced left ventricular ejection fraction, Capillary leak, Supraventricular arrhythmia, Hemateme... |
ORPHA:99829 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:85202 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Galloway-Mowat Syndrome 7 |
|
Edema, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Lethal Congenital Contracture Syndrome 10 |
|
Macroglossia, Torticollis, Fetal akinesia sequence, Ventricular septal defect, Hydrops fetalis, I... |
OMIM:617022 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618950 |
Obsolete: Arnold-Chiari Malformation Type Ii |
|
Hydrocephalus, Meningocele, Myelomeningocele, Aqueductal stenosis, Upper limb muscle weakness, Ha... |
ORPHA:1136 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Hypomimic face, Ventricular septal defect |
OMIM:608572 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept... |
ORPHA:2519 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Thickened nuchal skin fold, Patent ductus arteriosus, Ventricular septal de... |
OMIM:220500 |
Methimazole Embryofetopathy |
|
Polyhydramnios, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:1923 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Hydrocephalus, Intrauterine growth retardation, Patent ductus arterios... |
OMIM:300514 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Optic disc coloboma, Iris coloboma, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
Truncus Arteriosus |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal... |
ORPHA:3384 |
Ogden Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Perimembranous ve... |
OMIM:300855 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Perimembranous ventricular septal defect, Patent... |
OMIM:158170 |
Distal Deletion 19P |
|
Umbilical hernia, Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect |
ORPHA:96129 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
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Atrial septal defect, Flexion contracture, Intrauterine growth retardation, Ventricular septal de... |
OMIM:617452 |
Distal 22Q11.2 Microdeletion Syndrome |
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Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Branchial fistula, Intr... |
ORPHA:261330 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Pulmonary arterial hypertension, Ventricular septal defect, Umbilical hernia, Patent foramen oval... |
OMIM:618454 |
Ventriculomegaly With Cystic Kidney Disease |
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Ventricular septal defect, Hydrocephalus, Polyhydramnios, Fetal pericardial effusion, Premature b... |
OMIM:219730 |
Noonan Syndrome 9 |
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Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
Weill-Marchesani Syndrome 2 |
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Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Flexion contracture of toe, U... |
OMIM:608328 |
Mgat2-Cdg |
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Ventricular septal defect, Reflex asystolic syncope, Arrhythmia, Hydrops fetalis, Abnormal heart ... |
ORPHA:79329 |
Warsaw Breakage Syndrome |
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Optic disc coloboma, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect |
OMIM:613398 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
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Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Unbalanced atri... |
OMIM:619657 |
Heterotaxy, Visceral, 4, Autosomal |
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Dextrocardia, Ventricular septal defect, Total anomalous pulmonary venous return, Atrioventricula... |
OMIM:613751 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Atrial septal defect, Ventricular septal defect, Distal amyotrophy, Abnormal heart morphology, Ov... |
ORPHA:477817 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Ventricular septal defect, Hydrocephalus |
OMIM:615630 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
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Heart murmur, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:166035 |
Aase-Smith Syndrome I |
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Ventricular septal defect, Flexion contracture, Hydrocephalus |
OMIM:147800 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Ventricular septal defect |
OMIM:214300 |
22Q11.2 Deletion Syndrome |
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Abnormal pulmonary valve morphology, Occipital myelomeningocele, Spina bifida, Meningocele, Umbil... |
ORPHA:567 |
Distal 22Q11.2 Microduplication Syndrome |
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Macroglossia, Camptodactyly of finger, Camptodactyly of toe, Ventricular septal defect, Hydroceph... |
ORPHA:261337 |
Duane-Radial Ray Syndrome |
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Small thenar eminence, Iris coloboma, Atrial septal defect, Ventricular septal defect, Upper limb... |
OMIM:607323 |
Inverted Duplicated Chromosome 15 Syndrome |
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Tetralogy of Fallot, Ventricular septal defect |
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