| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... |
OMIM:605376 |
| Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... |
OMIM:619702 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,... |
OMIM:614779 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great... |
OMIM:231060 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Isomerism, Urethral atresia, Transposition of the great arteries, Pulmonary hypopla... |
OMIM:314390 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... |
ORPHA:860 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteri... |
OMIM:619657 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Neonatal death, Scimitar anomaly, Congenital alveola... |
OMIM:608978 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron... |
ORPHA:244 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
| Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu... |
ORPHA:1330 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia |
OMIM:617577 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
| Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... |
OMIM:613759 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... |
OMIM:617478 |
| White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... |
OMIM:618845 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent ductus ... |
ORPHA:99050 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... |
OMIM:270100 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:217085 |
| Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Abnormality of the pancreas, Tetralogy of Fallot... |
ORPHA:1926 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
| Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Neonatal death, Pulmonary artery atresia, Pe... |
OMIM:601186 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ... |
ORPHA:1727 |
| Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
| Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Renal hypoplasia... |
OMIM:264480 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Hypop... |
ORPHA:3426 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
| Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
| Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
| Cardiac-Urogenital Syndrome |
|
Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
| Down Syndrome |
|
Ventricular septal defect, Atrioventricular canal defect, Pulmonary artery stenosis, Patent ductu... |
OMIM:190685 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ab... |
ORPHA:251071 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Ventricular sept... |
OMIM:600001 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... |
OMIM:265380 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Atrial septal defect, Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defec... |
OMIM:618316 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Aortic valve stenosis, Hypoplastic left heart, Pulmonic s... |
OMIM:220210 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Ventricular sept... |
ORPHA:2255 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... |
ORPHA:95430 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... |
ORPHA:477817 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, H... |
ORPHA:90308 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... |
OMIM:300845 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... |
OMIM:615996 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:253300 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Pulmonary sequestration, Atrial... |
OMIM:618330 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmonary veno... |
ORPHA:1120 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... |
OMIM:601612 |
| Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis |
OMIM:617877 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias |
OMIM:615542 |
| Dextrocardia |
|
Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal lung lobation, Abnormal... |
ORPHA:1666 |
| Thoracoabdominal Syndrome |
|
Hypospadias, Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of the great arteries,... |
OMIM:313850 |
| Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Elevated hepatic transaminase |
OMIM:619967 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Pulmo... |
OMIM:612946 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Micro... |
ORPHA:2326 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... |
OMIM:612863 |
| Carpenter Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arte... |
OMIM:201000 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
| Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Ectopic kidney, Abnormal heart morphology, Pulmo... |
ORPHA:401935 |
| Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias |
ORPHA:1919 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return |
OMIM:106700 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypoplasia, Neonatal death,... |
OMIM:617925 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis, Atrial septal defect |
ORPHA:101028 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a... |
ORPHA:1329 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ... |
OMIM:615415 |
| Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Renal tubular dysfunction, Atrial septal... |
OMIM:614886 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... |
OMIM:192430 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Aminoaciduria, Stroke, Atrial ... |
OMIM:249270 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Abnormal aortic morphology, Multiple renal cysts, Vesicoureteral reflu... |
ORPHA:1166 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Atrial septal defect, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,... |
ORPHA:2847 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Micropenis, Patent for... |
OMIM:619189 |
| Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Tetralogy of Fallot |
ORPHA:3033 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal... |
OMIM:616276 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
| Thakker-Donnai Syndrome |
|
Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
ORPHA:1780 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... |
OMIM:253800 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... |
OMIM:613807 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... |
ORPHA:3092 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Jaundice... |
ORPHA:1667 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... |
OMIM:615482 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... |
OMIM:618164 |
| Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... |
ORPHA:371428 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
| Prune Belly Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Renal insufficiency, Ventricular ... |
ORPHA:2970 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia |
OMIM:611884 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Coarctat... |
OMIM:620210 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... |
OMIM:108900 |
| Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level,... |
OMIM:613630 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Atrial... |
ORPHA:290 |
| Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... |
OMIM:616652 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
| 8Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Complete atrioventricular canal defect, Pat... |
ORPHA:508488 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Midshaft hypospadias, Patent ductus arteriosus, Dextrocardia |
ORPHA:2863 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defec... |
OMIM:617063 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Portal hypertension, Situs inversus totalis, Pancreatic cysts, Pate... |
OMIM:267010 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot |
OMIM:300887 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:614679 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Hypospadias, Vesicoureter... |
OMIM:301056 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology |
ORPHA:2412 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... |
OMIM:619534 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot |
ORPHA:217 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Abnormal dental enamel morphology |
ORPHA:757 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
| Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Micronodular cir... |
OMIM:606003 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Abnormal coronary ar... |
ORPHA:488618 |
| Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis |
OMIM:601355 |
| Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... |
OMIM:601005 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Hypospadias, Patent... |
ORPHA:163956 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse |
ORPHA:276413 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... |
OMIM:616589 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Urinary incontinence |
ORPHA:476126 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Stroke |
ORPHA:49827 |
| Proteus Syndrome |
|
Splenomegaly, Venous malformation |
OMIM:176920 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septal defect, Hydron... |
OMIM:614846 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
| Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... |
ORPHA:229 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... |
ORPHA:682 |
| 3C Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Ventricular septal defect, Abnormal mitral... |
ORPHA:7 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Secundum atrial septal defect,... |
ORPHA:2257 |
| Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect, Hepatomegaly |
OMIM:619881 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... |
OMIM:618142 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616867 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615524 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology... |
OMIM:618494 |
| Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect |
OMIM:611174 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... |
OMIM:600987 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:618063 |
| Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulmonic stenosis, Atrial ... |
OMIM:615355 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
| Kaposi Sarcoma |
|
Venous insufficiency, Abnormality of the spleen, Abnormal lung morphology, Abnormality of the liver |
ORPHA:33276 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ureteropelvic junction obstruction, Hepatomegaly, Ventricular septal defect, Elevated circulating... |
OMIM:280000 |
| Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
| Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Micropenis |
OMIM:613870 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
| Giant Cell Arteritis |
|
Pericarditis, Renal insufficiency, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis,... |
ORPHA:397 |
| Pleural Mesothelioma |
|
Hepatomegaly, Abnormal pleura morphology, Abnormal lung morphology, Obstruction of the superior v... |
ORPHA:50251 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
| Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta |
ORPHA:2876 |
| Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus |
OMIM:619143 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Recurrent respiratory infections, Hepatomegaly, Patent ductus arteriosus, Atrial septal defect, H... |
ORPHA:1842 |
| Leopard Syndrome 1 |
|
Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defect, Mitral valve prol... |
OMIM:151100 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... |
OMIM:615444 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect |
OMIM:616898 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Vesicoureteral reflux, Hors... |
OMIM:115470 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
| Neonatal Marfan Syndrome |
|
Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... |
ORPHA:284979 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:606763 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
OMIM:619769 |
| Chime Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Transposition of the great arteries, Pulmonary va... |
ORPHA:3474 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... |
OMIM:614300 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... |
ORPHA:284169 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Recurrent pharyngitis, V... |
ORPHA:2331 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Neurogenic bladder, Unilateral vertebral artery hypoplasia, Dextroca... |
OMIM:613686 |
| Lymphatic Malformation 7 |
|
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Pulmon... |
OMIM:617300 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Tetralogy of Fallot, Hypospadias |
ORPHA:276422 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
| Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Dextrocardia, Situs inversus totalis, Jaundice, Stage 5 chroni... |
OMIM:613095 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Tetralogy of Fallot, Hypospadias |
ORPHA:1381 |
| Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Pulm... |
ORPHA:1335 |
| Mass Syndrome |
|
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
| Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Renal cyst, Stillbirth, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
| Distal Triplication 15Q |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Abnormal heart morphology, P... |
ORPHA:314588 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve |
OMIM:617744 |
| Lambert Syndrome |
|
Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
| Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r... |
ORPHA:1596 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Renal hypoplasia |
ORPHA:75389 |
| Alg3-Cdg |
|
Cardiomyopathy, Pulmonary hypoplasia, Decreased liver function, Coarctation of the descending aor... |
ORPHA:79321 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Diets-Jongmans Syndrome |
|
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, ... |
OMIM:618846 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Recurren... |
ORPHA:500159 |
| Faciocardiorenal Syndrome |
|
Horseshoe kidney, Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ventricular septal defect, Ectopic kidney, Neonatal death, Cystic renal dysplasia |
OMIM:613730 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... |
OMIM:157800 |
| Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... |
ORPHA:2396 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Micropenis, Dextrocardia, Coarctation of aorta |
OMIM:618929 |
| Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... |
ORPHA:99095 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
| Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Hypospadias, Coarctation of aorta |
ORPHA:1923 |
| Feingold Syndrome Type 1 |
|
Renal insufficiency, Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular ... |
ORPHA:391641 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,... |
OMIM:236680 |
| Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... |
OMIM:605275 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... |
ORPHA:1600 |
| Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux |
ORPHA:228399 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
| Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs |
ORPHA:93274 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect |
ORPHA:40366 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia, Transposit... |
OMIM:256520 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Atrial septal defect, Hom... |
OMIM:614857 |
| Stevenson-Carey Syndrome |
|
Atrial septal defect, Left superior vena cava draining to coronary sinus |
OMIM:611961 |
| Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Dextrocardia, Patent ductus arteriosus, Ascending tubular aort... |
ORPHA:1662 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia |
ORPHA:1908 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
| Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
| Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural effusion, Pat... |
ORPHA:60041 |
| Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... |
OMIM:619608 |
| Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
| Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... |
OMIM:608149 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia |
ORPHA:2655 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, As... |
ORPHA:99776 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal veno... |
ORPHA:1900 |
| Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:615668 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
| Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
| Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Abnormal aortic arch morphology, Abnormal cardiac sept... |
ORPHA:2059 |
| Mosaic Trisomy 16 |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Abnormal lung morphology, Horse... |
ORPHA:1708 |
| Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, ... |
OMIM:617159 |
| Vater/Vacterl Association |
|
Ventricular septal defect, Hypospadias, Ectopic kidney, Patent ductus arteriosus, Transposition o... |
OMIM:192350 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Unilateral renal agenesis... |
OMIM:614576 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis |
OMIM:618223 |
| Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Venous malformation |
ORPHA:75508 |
| Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Micropenis, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
| 20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Hypospadias, Abnormal cardiac ventricle morphology, Hypoplastic... |
ORPHA:261311 |
| Noonan Syndrome 10 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitral valve prolapse,... |
OMIM:616564 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Hypospadias, Abnormal pulmonary valve morphology, Mitral valve p... |
ORPHA:500 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa... |
OMIM:602782 |
| Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Mitral stenosis, Ventricular septal defect, Hypospadias, Coarctation of aort... |
ORPHA:2008 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect, Urinary incontinence |
OMIM:620094 |
| Keutel Syndrome |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Ventricular septal defect, Recurrent... |
ORPHA:85202 |
| Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... |
OMIM:614976 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Unilateral renal agenesis, Patent du... |
OMIM:609029 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... |
OMIM:617397 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Micropeni... |
OMIM:617516 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen... |
OMIM:610198 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Muscular ventricular septal def... |
ORPHA:363444 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Urinary incontinence, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial ... |
OMIM:620070 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Cholelithiasis, Hypertrophic cardiomyopathy, Per... |
OMIM:618775 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
| Trisomy 13 |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Abnormality of the u... |
ORPHA:3378 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... |
OMIM:208085 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Coarctation ... |
OMIM:612474 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine |
ORPHA:51208 |
| Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
| Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Chylothorax, Tetralogy of Fa... |
OMIM:153400 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Atrioventricula... |
OMIM:619123 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Abnormali... |
ORPHA:1677 |
| Digeorge Syndrome |
|
Hepatic steatosis, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Ate... |
OMIM:188400 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis |
ORPHA:3306 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Charge Syndrome |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect,... |
OMIM:214800 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect |
OMIM:617364 |
| Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Bronchiectasis |
OMIM:620184 |
| Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... |
OMIM:615994 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
| Familial Multiple Nevi Flammei |
|
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage |
ORPHA:624 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:99845 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Recurren... |
OMIM:617751 |
| Marfan Syndrome |
|
Bicuspid aortic valve, Emphysema, Mitral annular calcification, Pneumothorax, Mitral valve prolap... |
OMIM:154700 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
| Syndromic Diarrhea |
|
Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Hepatoblastoma, Splenomegaly, Pat... |
ORPHA:84064 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
| Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect, Horsesho... |
ORPHA:1724 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Dextrocardia, Cystathioninuria, Patent ductus arteriosus, Methylmalonic aciduria, A... |
OMIM:277380 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Ventricular septal defect, Hypospadias, Hepatoblastoma, Splenomegaly, Patent ductus... |
OMIM:312870 |
| Milroy Disease |
|
Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
| Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... |
ORPHA:99094 |
| Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect, Hypospadias, Horseshoe kidney |
OMIM:218350 |
| Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:145420 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect, Exocrine pancreatic ins... |
ORPHA:452 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Arteriovenous malformation |
ORPHA:137608 |
| Seckel Syndrome 9 |
|
Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ... |
OMIM:616777 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hepatic steatosis, Ventricular septal defect, Mitral atresia, Unilateral renal agenesis, Portal h... |
OMIM:619503 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hematuria, Decreased liver... |
OMIM:617021 |
| Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Limb ataxia, Choreoathetosis, Difficulty walking, Increased circulating creatine ki... |
OMIM:617595 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:352490 |
| Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of penis |
ORPHA:2328 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal d... |
OMIM:300963 |
| Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
| Megalencephaly |
|
Atrial septal defect, Long penis |
ORPHA:2477 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ... |
OMIM:115197 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Decreased liver function, Elevated hepatic transaminase |
OMIM:615160 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus arteri... |
ORPHA:2473 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent respiratory infections, Prominent superficial veins, Cor triatriatum, Hepatomegaly, Sec... |
OMIM:612541 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Turnpenny-Fry Syndrome |
|
Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valv... |
OMIM:618371 |
| Ellis Van Creveld Syndrome |
|
Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia... |
ORPHA:289 |
| Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic kidney dysplasia,... |
OMIM:173900 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
| Buratti-Harel Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Hypospadias, Recurrent pneumonia |
OMIM:619314 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu... |
OMIM:618901 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... |
OMIM:611878 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve, Abno... |
ORPHA:466791 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis |
OMIM:620327 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Absent pulmonary artery, Patent ductus arteriosus, Coarct... |
OMIM:600460 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:618870 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, Pulmonary hypoplasia, Pa... |
OMIM:616866 |
| Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Renal corticomedullary cysts, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
| Lowry-Maclean Syndrome |
|
Abnormality of the abdominal organs, Atrioventricular canal defect, Hypospadias, Coarctation of a... |
ORPHA:2409 |
| Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
| Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Renal cyst |
OMIM:615583 |
| Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal cardiac septum morphol... |
OMIM:614294 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Horseshoe kidney |
OMIM:613680 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, Micropenis, Tetra... |
ORPHA:96092 |
| Enlarged Parietal Foramina |
|
Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
| 16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal intrahepatic bile duct morpho... |
ORPHA:485405 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Pelvic kidney, Hydr... |
OMIM:613001 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis, Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve p... |
ORPHA:261337 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Micropenis |
ORPHA:2519 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Chronic kidney di... |
ORPHA:730 |
| Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Horseshoe kid... |
OMIM:612562 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P... |
OMIM:612582 |
| Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Abnormality of the ureter, Cholestasis, Nephrotic syndro... |
ORPHA:52 |
| De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Ventricular septal defect, Patent ductus arteriosus, Hypoplas... |
ORPHA:2962 |
| Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Proteinuria, Recurrent bronchopulmonary infection... |
OMIM:617303 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Hy... |
ORPHA:353281 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the lungs, Atrioventricular canal defect, Vesicoureteral reflux, Distal ure... |
ORPHA:2549 |
| You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Hypospadias, Coarctation of aorta, Aortic roo... |
OMIM:617602 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
| Abruzzo-Erickson Syndrome |
|
Atrial septal defect, Coronal hypospadias, Hypospadias |
ORPHA:921 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Patent ductus arter... |
OMIM:220500 |
| Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:614582 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus art... |
OMIM:251290 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale, Vesicoureteral reflux, Renal hypoplasia |
OMIM:616854 |
| 3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... |
ORPHA:435638 |
| Recombinant 8 Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... |
ORPHA:96167 |
| Kabuki Syndrome 2 |
|
Horseshoe kidney, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Atrioventricular... |
OMIM:300867 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Ecto... |
OMIM:607872 |
| Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Respiratory tract infection, Patent for... |
OMIM:180849 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Chondrocalcinosis, Hypomagnesemia |
OMIM:154020 |
| Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Atrial septal defect, Patent foramen... |
OMIM:618950 |
| Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Vesicoureteral reflux, Atrial septal defect, Renal hypoplas... |
OMIM:118450 |
| Tarp Syndrome |
|
Subdural hemorrhage, Horseshoe kidney, Neonatal death, Hepatic failure, Atrial septal defect, Tet... |
OMIM:311900 |
| Lymphatic Malformation 6 |
|
Splenomegaly, Varicose veins, Pleural effusion, Chylothorax, Atrial septal defect, Intestinal lym... |
OMIM:616843 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ... |
OMIM:619167 |
| Renpenning Syndrome |
|
Heterotaxy, Hypospadias |
ORPHA:3242 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Unilateral renal agenesis, Patent du... |
ORPHA:96170 |
| Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... |
ORPHA:2637 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Abnormality of the ureter |
ORPHA:1035 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Melnick-Needles Syndrome |
|
Recurrent respiratory infections, Ureteral stenosis, Mitral valve prolapse, Stillbirth, Tricuspid... |
OMIM:309350 |
| Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... |
OMIM:164280 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis |
ORPHA:457193 |
| Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Hypospadias, Patent ductus arteriosus, Hypoplastic aorti... |
OMIM:300166 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Coarctation of aorta... |
OMIM:300514 |
| Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Preductal coarctation of the aorta |
OMIM:215045 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pro... |
OMIM:613404 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Ventricular septal defect |
ORPHA:513456 |
| Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Secundum... |
ORPHA:2260 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f... |
OMIM:620024 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart |
ORPHA:2772 |
| Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs |
ORPHA:1860 |
| Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Subvalvular aortic steno... |
OMIM:614114 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Aortic root aneurysm |
ORPHA:404443 |
| Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Hypo... |
OMIM:601808 |
| 20P12.3 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261295 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Vesicoureteral reflux, Abnormal heart morpholog... |
ORPHA:453499 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve, Unilateral renal agenesis |
OMIM:608980 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... |
OMIM:615630 |
| Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... |
OMIM:609192 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... |
OMIM:617506 |
| Shashi-Pena Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Unilateral rena... |
OMIM:617190 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonic stenosis, Recurre... |
OMIM:618282 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus |
ORPHA:1790 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Unilateral renal agenesis |
OMIM:608572 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Patent ductus arteriosus, Nep... |
OMIM:618005 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
| Joubert Syndrome 18 |
|
Intrahepatic biliary atresia, Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:614815 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
| Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Interrupted... |
OMIM:300712 |
| Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Hypospadias, Pulmonary artery stenosis, Bilateral lung agenesis, Conge... |
OMIM:611812 |
| Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Arterial tortuosity, Pneumothorax, Mitral valve prolapse, Ascending tubula... |
OMIM:614816 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect |
ORPHA:466926 |
| Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret... |
OMIM:616368 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Kapur-Toriello Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Micropenis |
OMIM:244300 |
| Thymic Carcinoma |
|
Abnormal vena cava morphology |
ORPHA:99868 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Abnormal mesentery morphology, Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia |
ORPHA:2256 |
| 22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Hypospadias, Retinal arteriolar t... |
ORPHA:567 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Rig... |
OMIM:614261 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormality of the pancreas, Abnormal cardiac sep... |
ORPHA:2315 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Nephrocalcinosis |
ORPHA:500533 |
| Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, Arterioven... |
ORPHA:974 |
| Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia |
OMIM:202650 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic... |
ORPHA:139466 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lung mo... |
ORPHA:141127 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Atrioventricular canal defect |
OMIM:613792 |
| Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Spontaneous pneumothorax, Arte... |
OMIM:610168 |
| 7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Patent ductus arteriosus after birth at term, Enuresis nocturna... |
ORPHA:251061 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morp... |
ORPHA:261197 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Conotruncal defect, Coarctation of aorta, Abnormal card... |
ORPHA:96147 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... |
OMIM:314400 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hepatic steatosis, Hepatomegaly,... |
ORPHA:17 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Nephrocalcinosis |
OMIM:611087 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Vesicoureteral reflux, Peripheral pulmonary artery stenosis |
OMIM:614749 |
| Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Persi... |
OMIM:619268 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose... |
OMIM:125310 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly |
OMIM:617022 |
| Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis |
ORPHA:896 |
| Distal Xq28 Microduplication Syndrome |
|
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foramen ovale |
ORPHA:293939 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomegaly, Recurrent pn... |
OMIM:616651 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
| Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
| Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect |
ORPHA:93946 |
| Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
| Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency, Pulmonary lymphangiectasia, Mitral valve prolapse |
OMIM:247410 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch |
OMIM:230900 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Inability to walk, Hyperkalemia, Ataxia |
OMIM:608885 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
| Opitz Gbbb Syndrome |
|
Ventricular septal defect, Hypospadias, Patent foramen ovale, Patent ductus arteriosus, Vesicoure... |
ORPHA:2745 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... |
OMIM:614868 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Varicose veins, Pulmonic stenosis, Vascular dilatation, Aortic dissection |
OMIM:618343 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec... |
ORPHA:230851 |
| Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
| Classical Ehlers-Danlos Syndrome |
|
Mitral valve prolapse, Bladder diverticulum, Dilatation of the cerebral artery, Aortic root aneur... |
ORPHA:287 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Hepatosplenomegaly, Patent ductus arteriosus, Oligosacchariduria |
ORPHA:397709 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Patent ductus arteriosus, Vesicoureteral reflux, Renal hypoplasia, Microphallus, Atria... |
OMIM:603467 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Pulmonary fibrosis |
OMIM:611926 |
| Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620113 |
| East Syndrome |
|
Ataxia, Inability to walk, Hypokalemia, Increased circulating renin level, Difficulty walking, Hy... |
ORPHA:199343 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Pneumothorax, Mitral valve prolapse, Nephrotic syndrome, Tricuspid valve prolapse, Atrial septal ... |
OMIM:601776 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect, Hypospadias, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Left ... |
ORPHA:464738 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Patent foramen ovale |
OMIM:618821 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect |
OMIM:309520 |
| 8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Splenomegaly, Patent ductus arteriosus, Mitral valve prolapse, Atrial septal... |
ORPHA:251066 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect |
OMIM:612938 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... |
OMIM:235510 |
| Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus... |
OMIM:164210 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Hy... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Hy... |
ORPHA:353277 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Bile duct proliferation, Ventricular septal defect, Renal cyst |
OMIM:611134 |
| Coffin-Siris Syndrome |
|
Ventricular septal defect, Hypospadias, Hepatoblastoma, Patent ductus arteriosus, Recurrent upper... |
ORPHA:1465 |
| Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Intracrania... |
ORPHA:163979 |
| Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia, Hypospadias |
ORPHA:96097 |
| Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Renal hypoplasia, Pulmonary hypoplasia, Micropenis |
OMIM:248700 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale |
OMIM:615156 |
| Kleefstra Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Ventricular septal de... |
ORPHA:261494 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Truncus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Renal hypoplas... |
ORPHA:508498 |
| Proteus-Like Syndrome |
|
Venous insufficiency, Bronchogenic cyst, Splenomegaly |
ORPHA:2969 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Ureteral agenesis, Congenital megaureter, Pulmonary hypoplasia, Hydronephrosis |
ORPHA:2437 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
| Joubert Syndrome 3 |
|
Atrial septal defect, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
| Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Perimembranous ventricular sept... |
OMIM:158170 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Recurrent pneumonia, Ventricular septal defect, Recurrent aspiration pn... |
OMIM:300472 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Coffin-Siris Syndrome 6 |
|
Atrial septal defect |
OMIM:617808 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, S... |
OMIM:235255 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve |
OMIM:619720 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
| White Forelock With Malformations |
|
Atrial septal defect |
ORPHA:2475 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect |
ORPHA:521308 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect, Hypospadias |
ORPHA:77298 |
| Foix-Alajouanine Syndrome |
|
Neurogenic bladder, Urinary incontinence, Functional abnormality of the bladder, Urinary retentio... |
ORPHA:79093 |
| Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
| 1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch, Vesicouret... |
ORPHA:250989 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Hypospadias, Pulmonary artery stenos... |
OMIM:300998 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Anomalous pulmonary venous return,... |
ORPHA:99104 |
| Lymphatic Malformation 13 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Neonatal death |
OMIM:620244 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo... |
OMIM:620025 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial ef... |
ORPHA:26793 |
| Sotos Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Muscular ventricular septal defect, Prolonge... |
OMIM:117550 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Patent foramen ovale |
ORPHA:88630 |
| Ogden Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:276432 |
| Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea... |
OMIM:100300 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... |
OMIM:177850 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Patent ductus arteriosus, Atrial septal defect, Micropenis, Medullary nephrocalcinosis |
ORPHA:363528 |
| Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
| Tarp Syndrome |
|
Horseshoe kidney, Pulmonary hypoplasia, Atrial septal defect, Tetralogy of Fallot, Persistent lef... |
ORPHA:2886 |
| Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Renal cyst, Coarctation of aorta, Renal cortical cys... |
ORPHA:1692 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:619383 |
| Varicose Veins |
|
Varicose veins |
OMIM:192200 |
| Zaki Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis |
OMIM:619648 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation |
OMIM:613089 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux |
OMIM:615879 |
| Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon... |
OMIM:614609 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Dilated cardiomyopathy, Mitral valve prolapse... |
ORPHA:2556 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Ventricular septal defect, Unilateral renal agenesis |
OMIM:618504 |
| Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
| Erythrocytosis, Familial, 2 |
|
Varicose veins, Stroke, Cerebral hemorrhage |
OMIM:263400 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:261279 |
| Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular ... |
ORPHA:1507 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Renal hypoplasia, Hypoplastic left heart, Aortic valve stenosis, Atrial se... |
OMIM:617660 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney, Atrial sept... |
OMIM:609053 |
| Lujan-Fryns Syndrome |
|
Atrial septal defect |
ORPHA:776 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hydroureter, Bicuspid aortic valve, Valvular pulmonary stenosis, Vesicoureteral reflux, Atrial se... |
OMIM:300707 |
| Pallister-Hall Syndrome |
|
Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kidney, Patent ductu... |
OMIM:146510 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... |
ORPHA:79345 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
| Neurooculorenal Syndrome |
|
Dextrocardia, Unilateral renal agenesis, Stage 2 chronic kidney disease, Stage 5 chronic kidney d... |
OMIM:620305 |
| Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Aortopulm... |
ORPHA:97214 |
| Autosomal Dominant Spastic Paraplegia Type 10 |
|
Urinary urgency, Varicose veins, Spastic/hyperactive bladder |
ORPHA:100991 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Splenomegaly, Ren... |
OMIM:269860 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Patent ductus arterios... |
ORPHA:354 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| 15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in urine, Patent ductus ... |
ORPHA:505248 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Pu... |
OMIM:616897 |
| Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Recurrent pneumonia, Me... |
ORPHA:209905 |
| Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Aortic valve stenosis, Mitral stenosis |
OMIM:614185 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Mitral valve prolapse |
OMIM:615539 |
| Lymphedema-Distichiasis Syndrome |
|
Proteinuria, Patent ductus arteriosus, Varicose veins, Tubulointerstitial nephritis, Abnormality ... |
ORPHA:33001 |
| Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect |
OMIM:618354 |
| Thymic Neuroendocrine Tumor |
|
Abnormal vena cava morphology, Pancreatic islet cell adenoma, Prominent veins on trunk, Calcium n... |
ORPHA:97289 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid valve prolapse |
ORPHA:1101 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Atrial septal defect, Truncus arteri... |
ORPHA:261330 |
| Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Tetralogy of Fallot, Ventricular septal defect, Horseshoe kidney |
OMIM:174300 |
| Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, Bifid ureter |
OMIM:617107 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal medullary pyramid morphology, Ventricular septal defect, Recurrent aspiration pneumonia |
ORPHA:79243 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Recurrent pn... |
OMIM:607143 |
| Knobloch Syndrome |
|
Vesicoureteral reflux, Patent ductus arteriosus, Bifid ureter, Dextrocardia |
ORPHA:1571 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus arteriosus, Congenital meg... |
ORPHA:261344 |
| Kleefstra Syndrome 1 |
|
Recurrent respiratory infections, Micropenis, Hypospadias, Conotruncal defect |
OMIM:610253 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Patent ductus arteriosus, Vesicoureteral reflux, Pulmo... |
OMIM:614080 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux... |
OMIM:610443 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Ventricular hypertrophy, Ventricular septal defect, Nephrolithiasis |
ORPHA:369929 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... |
OMIM:610733 |
| Alg9-Cdg |
|
Hepatomegaly, Ventricular septal defect, Ureteral hypoplasia, Hepatic cysts, Pericardial effusion... |
ORPHA:79328 |
| Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
| Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Patent ductus arteriosus, Annular pancreas |
OMIM:618162 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Atrial sep... |
ORPHA:3047 |
| Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Vesicoureteral reflux, Micropenis |
OMIM:609625 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Secundum atrial septal defect, Vesic... |
OMIM:619951 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Varicose veins, Nephritis, Pyelonephritis |
OMIM:314300 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
| Fg Syndrome Type 1 |
|
Atrial septal defect, Mitral valve prolapse, Hypospadias, Coarctation of aorta |
ORPHA:93932 |
| Noonan Syndrome 5 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:611553 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hypospadias, Ventricular septal defect, Abnormality of the pancreas, Splenomegaly, ... |
OMIM:222470 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Abnormality of the splee... |
ORPHA:2538 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lym... |
ORPHA:1655 |
| Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney, Atrial sept... |
OMIM:607323 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... |
OMIM:175050 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect, Hypospadias, Micropenis |
OMIM:106260 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Ventricular septal defect, Pancreatic cysts, Patent ductus arteriosus, Vesi... |
OMIM:274000 |
| Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ventricle, Atrial septal defec... |
OMIM:619869 |
| Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:600268 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Horseshoe kidney, Coarctation of aorta, Atr... |
OMIM:617088 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Chordee, Atrial septal defect, Micropen... |
OMIM:309801 |
| Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Renal hypoplasia, Coarctation of aorta, Atrial sep... |
OMIM:105650 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... |
ORPHA:536532 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617452 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect |
OMIM:619980 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect, Hypospadias |
OMIM:618109 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Vascular dilatation, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Mu... |
OMIM:613177 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Aortic valve calcification, Abnormality of the spleen, Splenomegaly, ... |
ORPHA:2072 |
| Clapo Syndrome |
|
Varicose veins, Venous malformation |
ORPHA:168984 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic... |
OMIM:610759 |
| Livedoid Vasculopathy |
|
Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke |
ORPHA:542643 |
| Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus, Hydronephrosis |
OMIM:300968 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
| 19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Hepatic steatosis, Ventricular septal defect, Hypospadias |
ORPHA:254346 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
| Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Ebstein anomaly of the tricuspid valve, Patent foramen ovale,... |
ORPHA:506358 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Ventricular septal defect, ... |
ORPHA:2461 |
| Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:605130 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Renal hypoplasia, Venous malformation |
OMIM:612918 |
| Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,... |
OMIM:616028 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Absence of renal corticomedullary differentiation, Secundum atr... |
OMIM:619758 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus, Patent ductus arteriosus, Atrioventricular canal defect, Coarctat... |
OMIM:619480 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Atrial septal defect, Hydronephrosis |
OMIM:616449 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal lung lobation, Hypercalciuria, Renal cyst, Abnormal heart morp... |
ORPHA:369837 |
| Codas Syndrome |
|
Extrahepatic biliary duct atresia, Hydroureter, Ventricular septal defect |
ORPHA:1458 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventricle morphology, Mit... |
ORPHA:500095 |
| Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:505237 |
| C Syndrome |
|
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Renal cortical cysts |
OMIM:211750 |
| Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Proteinuria |
ORPHA:2143 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
| Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect |
OMIM:617201 |
| Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... |
ORPHA:42775 |
| Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... |
OMIM:615582 |
| Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
| Brachydactyly, Type B1 |
|
Micropenis, Ventricular septal defect |
OMIM:113000 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
| Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect |
ORPHA:2345 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... |
ORPHA:217085 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:618348 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Vesicoureteral reflux, Recurrent upper respiratory tract infections, Ventricular septal defect |
ORPHA:3078 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Enlarged kidney, Abnormal venous morphology, Abnormal cerebral vascular morphology |
ORPHA:276280 |
| Tetrasomy 9P |
|
Absent gallbladder, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Jaundice, B... |
ORPHA:3310 |
| Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
| Distal Deletion 10Q |
|
Patent ductus arteriosus, Functional abnormality of the bladder, Vesicoureteral reflux, Horseshoe... |
ORPHA:96148 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Recurrent upper respiratory tract infections, Functional ... |
ORPHA:391487 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... |
ORPHA:217093 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
| Rere-Related Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect, Hypospadias, Abnormal heart morphology |
ORPHA:494344 |
| Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
| Bdv Syndrome |
|
Atrial septal defect, Micropenis |
OMIM:619326 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Tubulointerstitial nephritis, Aortic valve stenosis, Enuresis |
ORPHA:459061 |
| Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly |
OMIM:615673 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta |
OMIM:616145 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypospadias, Patent duc... |
OMIM:214100 |
| Lateral Meningocele Syndrome |
|
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, A... |
OMIM:130720 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral refl... |
OMIM:616894 |
| Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria |
OMIM:258900 |
| X Small Rings |
|
Ventricular septal defect, Aortic root aneurysm, Mitral stenosis, Bicuspid aortic valve |
ORPHA:96201 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys... |
OMIM:618460 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect |
OMIM:619115 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia |
ORPHA:199299 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
| Renal Nutcracker Syndrome |
|
Proteinuria, Vulval varicose vein, Hematuria, Varicose veins, Renal artery stenosis, Microscopic ... |
ORPHA:71273 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Aortic root aneurysm, Chordee, Hypospadias |
OMIM:618891 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Recurrent lower respiratory tract infections |
OMIM:620194 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Pneumothorax, Micropenis, Ascending tubular aorta aneurysm, Atrial septa... |
OMIM:617403 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... |
OMIM:245600 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Atrial sep... |
OMIM:619991 |
| Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
| Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect |
OMIM:619135 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Patent ductus arteriosus, R... |
OMIM:620005 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop... |
OMIM:615474 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Abnormal lung lobation, Coarctation of aorta, Abnormal aortic morph... |
ORPHA:1052 |
| Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate... |
OMIM:613610 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria |
OMIM:616901 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
| Meige Disease |
|
Varicose veins, Pleural effusion |
ORPHA:90186 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
| Joubert Syndrome 14 |
|
Intracranial hemorrhage, Ventricular septal defect, Renal cyst |
OMIM:614424 |
| Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
| King-Denborough Syndrome |
|
Ventricular septal defect |
OMIM:619542 |
| Mirage Syndrome |
|
Hyponatremia, Hyperkalemia |
OMIM:617053 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Prominent superficial veins, Pneumothorax, Mitral valve prolapse, Biventricular hypertrophy, Neph... |
OMIM:617402 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
| Al Kaissi Syndrome |
|
Atrial septal defect |
OMIM:617694 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Dilated ca... |
OMIM:619573 |
| Robinow Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Coarctation of aorta, Abnormal heart mor... |
ORPHA:97360 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
| Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect, Ectopic kidney |
OMIM:613309 |
| White-Sutton Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:616364 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect |
OMIM:614526 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:244450 |
| Noonan Syndrome 13 |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:619087 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Renpenning Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypoplasia, Atria... |
OMIM:309500 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology |
ORPHA:1292 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
| Floating-Harbor Syndrome |
|
Hypospadias, Tetralogy of Fallot, Renal cyst, Coarctation of aorta, Nephrocalcinosis, Stage 5 chr... |
ORPHA:2044 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... |
ORPHA:79330 |
| Mgat2-Cdg |
|
Patent ductus arteriosus, Ventricular septal defect, Recurrent upper and lower respiratory tract ... |
ORPHA:79329 |
| Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus art... |
ORPHA:2092 |
| Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Atrial septal defect, Tetral... |
ORPHA:1519 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... |
ORPHA:818 |
| Congenital Tricuspid Stenosis |
|
Tricuspid stenosis, Bacterial endocarditis |
ORPHA:95459 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
| Gabriele-De Vries Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction, Patent foramen ovale, Aortopulmonary collater... |
OMIM:617557 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Vesicoureteral reflux, Recurrent respiratory infections, Patent ductus arteriosus, Patent foramen... |
OMIM:618076 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Patent foramen ovale, Renal hypoplasia, Pulmonic stenosis |
OMIM:618914 |
| Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, Congenital posterior ... |
OMIM:136140 |
| Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1051 |
| 3Mc Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis |
OMIM:257920 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Patent ductus arteriosus, Hydronephrosis, Aortic root aneurysm, Congenital megaurete... |
ORPHA:280633 |
| Kury-Isidor Syndrome |
|
Ventricular septal defect, Hydronephrosis |
OMIM:619762 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Coarctation of... |
OMIM:618454 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:361 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia, Ataxia |
ORPHA:31826 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
| Alg12-Cdg |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hypospadias, Recurrent pharyngit... |
ORPHA:79324 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Pulmonic stenosis, H... |
ORPHA:100078 |
| Cystinosis |
|
Hypokalemia, Gait disturbance, Hypophosphatemia |
ORPHA:213 |
| Fanconi Anemia |
|
Renal insufficiency, Hydroureter, Hypospadias, Abnormal preputium morphology, Patent ductus arter... |
ORPHA:84 |
| Genitopatellar Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Pulmonary hypoplasia, Hydronephrosis |
ORPHA:85201 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Patent foramen ovale, Hydronephrosis |
OMIM:619179 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardiomyo... |
OMIM:610505 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Bladder diverticul... |
ORPHA:536545 |
| Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis |
OMIM:277600 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect, Hypospadias |
OMIM:612528 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
| Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Ectopic kidney, Coarctation of aorta |
ORPHA:268249 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level |
OMIM:608688 |
| Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
| Constricting Bands, Congenital |
|
Bladder exstrophy, Ectopia cordis, Abnormal lung lobation |
OMIM:217100 |
| Joubert Syndrome With Ocular Defect |
|
Dextrocardia |
ORPHA:220493 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:95409 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
| Coffin-Lowry Syndrome |
|
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... |
ORPHA:192 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:608779 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Ventricular septal defect, Microvesicul... |
OMIM:619418 |
| Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Jaundice, Hep... |
ORPHA:912 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| 7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Enur... |
ORPHA:96121 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Patent foramen ovale, Hypospadias |
OMIM:619184 |
| Sweeney-Cox Syndrome |
|
Asplenia, Patent ductus arteriosus, Patent foramen ovale |
OMIM:617746 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
| Geleophysic Dysplasia 1 |
|
Hepatomegaly, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis |
OMIM:231050 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
| Menkes Disease |
|
Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Bladder diverticulum, Abnormal ... |
ORPHA:565 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Elevated c... |
OMIM:614866 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect |
ORPHA:1915 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617360 |
| Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta aneurysm, Ureteropelvic... |
ORPHA:444072 |
| 19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias |
ORPHA:217346 |
| Juvenile Polyposis Of Infancy |
|
Atrial septal defect, Patent ductus arteriosus, Abnormal heart morphology |
ORPHA:79076 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Hypospadias, Horseshoe kidney, Vesicoureteral reflux, Dysplastic pulmo... |
OMIM:619103 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polycysti... |
OMIM:263520 |
| H Syndrome |
|
Recurrent pharyngitis, Bronchiectasis, Hepatosplenomegaly, Varicose veins, Micropenis, Enlarged k... |
ORPHA:168569 |
| Esophageal Atresia |
|
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Coarctation of aorta, Pu... |
ORPHA:1199 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect |
OMIM:169400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
| Cooper-Jabs Syndrome |
|
Ventricular septal defect |
ORPHA:1488 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... |
OMIM:300855 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Ventricular septal defect |
ORPHA:1770 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
| Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Aspiration pneumonia, Double... |
ORPHA:79500 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Renal tubular acidosis, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:613457 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:3071 |
| Familial Multiple Lipomatosis |
|
Abnormal tricuspid valve morphology |
ORPHA:199276 |
| Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Hypospadias, Horseshoe kidney, Abnormal heart m... |
ORPHA:124 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hepatomegaly, Ventricular septal defect, Hypospadias, Unilate... |
OMIM:270400 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Fontaine Progeroid Syndrome |
|
Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, Patent ductus arteriosu... |
OMIM:612289 |
| 19P13.3 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:447980 |
| Bohring-Opitz Syndrome |
|
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux, Hyperechogenic pancreas |
OMIM:605039 |
| Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Patent ductus arteriosus, Ventricular septal defect, Polycystic kidney dys... |
OMIM:606232 |
| Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect |
OMIM:600373 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Pulmonary artery stenosis, Abnormal aort... |
ORPHA:96334 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Arteria lusoria, Vesicoureteral reflux, Micropenis, Pelvic kidney, Patent foramen ovale, Hydronep... |
OMIM:618653 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Microvesicular hepatic steatosis, Patent ductus arteriosus, Vesicoureteral reflux, ... |
OMIM:300868 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect |
OMIM:620242 |
| Noonan Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Coarctation of aorta, Chylothor... |
OMIM:163950 |
| Renal Agenesis |
|
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ... |
ORPHA:411709 |
| Proximal Spinal Muscular Atrophy |
|
Atrial septal defect, Recurrent aspiration pneumonia, Recurrent infections due to aspiration |
ORPHA:70 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Stroke-like episode, Pulmonary... |
ORPHA:137675 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula... |
OMIM:619525 |
| Short Stature-Micrognathia Syndrome |
|
Micropenis, Ventricular septal defect, Penoscrotal hypospadias |
OMIM:617164 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Micropenis, Ventricular septal defect |
OMIM:620073 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Anomalous origin of l... |
ORPHA:438213 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Renal tubular acidosis, Recurrent respiratory infections, Ventricular septal defect, Peripheral p... |
OMIM:619575 |
| Degcags Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pneumonia, Hypospadias, Abnormal renal medulla morpholog... |
OMIM:619488 |
| Zttk Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral ren... |
OMIM:617140 |
| Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Abnormal heart valve morphology, Hypospadias, Abnormality of th... |
ORPHA:280 |
| Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Aortic aneurysm |
OMIM:150250 |
| Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
| Omodysplasia 1 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:619121 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615503 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypospadias, Urethrovaginal fistula, Portal hypertension... |
OMIM:243800 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormal heart valve morphology, Ascending tubular aorta aneurysm, Pulmona... |
ORPHA:536471 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Interface hepatitis, Recurrent respiratory infections, Ventricular septal defect, Congenital pulm... |
OMIM:243150 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Holoprosencephaly |
|
Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morphology, Proteinuria,... |
ORPHA:2162 |
| Ellis-Van Creveld Syndrome |
|
Atrial septal defect, Epispadias, Common atrium, Hypospadias |
OMIM:225500 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Recurrent pancre... |
OMIM:618268 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:612530 |
| Charge Syndrome |
|
Aortic arch aneurysm, Patent ductus arteriosus, Horseshoe kidney, Abnormal cardiac septum morphol... |
ORPHA:138 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia |
OMIM:611489 |
| Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... |
OMIM:139210 |
| Hand-Foot-Genital Syndrome |
|
Ventricular septal defect, Hypospadias, Abnormality of the urethra, Vesicoureteral reflux, Ureter... |
ORPHA:2438 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
| Keutel Syndrome |
|
Ventricular septal defect, Recurrent bronchitis, Pulmonary artery hypoplasia, Pulmonic stenosis, ... |
OMIM:245150 |
| 16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
| Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Renal cyst, Horseshoe kidney... |
OMIM:117650 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Renal cy... |
OMIM:229850 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... |
OMIM:610655 |
| Monosomy 13Q34 |
|
Common atrium, Hepatic steatosis, Pulmonic stenosis |
ORPHA:96168 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect |
OMIM:620183 |
| Lethal Kniest-Like Dysplasia |
|
Atrial septal defect |
ORPHA:2347 |
| Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos... |
OMIM:608328 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog... |
ORPHA:352665 |
| Costello Syndrome |
|
Renal insufficiency, Ventricular septal defect, Pneumothorax, Mitral valve prolapse, Pulmonic ste... |
OMIM:218040 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Phimosis, Patent ductus arteriosus, Coarctation of aorta, Prolonged neonatal jaundice, Atrial sep... |
ORPHA:363611 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, ... |
ORPHA:363958 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Bilateral renal hypoplasia, Unila... |
ORPHA:49 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
OMIM:602535 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena... |
ORPHA:464311 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Annula... |
ORPHA:2308 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale |
ORPHA:542306 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Atrial septal defect, A... |
OMIM:147791 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect |
OMIM:301044 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Coar... |
OMIM:210710 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Atrial septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Recurrent sinusitis |
OMIM:213980 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Renal cyst, Pulmonic stenosis, Atrial septal defect, M... |
OMIM:257300 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:168558 |
| Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Multicystic kidney dysplasia, Patent ductus arteriosus, Ventricular septal ... |
OMIM:300373 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosem... |
OMIM:227810 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Hypospadias, Dilatation of the ventricular cavity, Pulmonary artery st... |
ORPHA:459070 |
| Limb Body Wall Complex |
|
Ventricular septal defect, Abnormal heart morphology, Abnormality of the liver, Atrial septal def... |
ORPHA:2369 |
| Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
| Addison Disease |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:85138 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:289548 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia |
ORPHA:293978 |
| Distal Deletion 3P |
|
Atrioventricular canal defect |
ORPHA:1620 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Proteinuria, Atrial septal defect, Micropenis, Pancreatitis |
OMIM:619471 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Ataxia, Dysdiadochokinesis, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia |
OMIM:611590 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
| Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyop... |
ORPHA:1340 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,... |
ORPHA:99228 |
| Monosomy X |
|
Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,... |
ORPHA:99226 |
| Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
| Turner Syndrome |
|
Aortic arch aneurysm, Atrial septal defect, Elevated hepatic transaminase, Bicuspid aortic valve,... |
ORPHA:881 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia, Ne... |
OMIM:275210 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613458 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect |
OMIM:614207 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Patent ductus arteriosus, Patent foramen ovale, Abnormal heart ... |
ORPHA:177907 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Nephrocalcinosis, Vesicoureteral reflux, Atrial septal defect, Micropenis,... |
OMIM:194050 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericar... |
ORPHA:358 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:615802 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect |
ORPHA:457351 |
| Hajdu-Cheney Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomeg... |
ORPHA:955 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Vesicoureteral refl... |
OMIM:616975 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia |
ORPHA:275761 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... |
OMIM:143095 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Abnormal hear... |
ORPHA:444077 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Micropenis, Pulmonary hypoplasia, Polycystic kidney dysplasia |
OMIM:616546 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypospadias, Horseshoe kidney, Total anomalous pulmonary venous return, Atrial septal defect, Mic... |
OMIM:609945 |
| Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis |
ORPHA:100079 |
| Distal Deletion 12Q |
|
Ectopic kidney, Patent ductus arteriosus, Biliary atresia, Annular pancreas, Congenital hypertrop... |
ORPHA:96149 |
| Poland Syndrome |
|
Hypospadias, Dextrocardia, Vesicoureteral reflux, Renal hypoplasia, Abnormality of the liver, Ure... |
ORPHA:2911 |
| Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
| Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Hydronephrosis |
OMIM:115150 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Rena... |
ORPHA:464306 |
| Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ... |
ORPHA:286 |
| Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Hypospadias, Pulmonary artery stenosis, Patent... |
OMIM:235730 |
| Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Ureth... |
ORPHA:857 |
| Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
| Occipital Horn Syndrome |
|
Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Vascular dilatation |
ORPHA:198 |
| Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Secundum atrial septal defect, Paten... |
OMIM:616268 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect |
OMIM:207410 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale |
ORPHA:457395 |
| Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Long penis, Nephrocalcinosis, Cardiomyopathy, Atrial septal defect |
ORPHA:769 |
| Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypospadias, Micropenis |
OMIM:206900 |
| Pallister-Hall Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Patent ductus ... |
ORPHA:672 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Micropenis |
ORPHA:398069 |
| Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Ventricular septal defect, Proteinuria |
OMIM:222448 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Patent ductus arteriosus, Patent foramen ovale, Hypercalciuria |
OMIM:300990 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
| Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Abnormal mitral valve morphology, Splenomegaly, Hepatosplenomeg... |
ORPHA:576 |
| Fibrochondrogenesis 1 |
|
Stillbirth, Patent foramen ovale |
OMIM:228520 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Hydronephrosis |
OMIM:101200 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Ventricular septal defect, Coarc... |
OMIM:147920 |
| Frontometaphyseal Dysplasia 2 |
|
Neurogenic bladder, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Patent fo... |
OMIM:617137 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Ventricular septal defect, Hydronephrosis |
OMIM:617798 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Dilation of Virchow-Robin spaces |
OMIM:619512 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Hepatomegaly, Micropenis |
OMIM:620076 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
| Spondyloocular Syndrome |
|
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve |
OMIM:605822 |
| Vici Syndrome |
|
Recurrent respiratory infections, Dilated cardiomyopathy, Cardiomyopathy, Atrial septal defect, L... |
OMIM:242840 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261323 |
| Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Glandular hypospadias |
ORPHA:1439 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Unilateral renal agenesi... |
ORPHA:500150 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Opitz Gbbb Syndrome |
|
Ventricular septal defect, Hypospadias, Rectourethral fistula, Congenital posterior urethral valv... |
OMIM:300000 |
| Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
| Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis |
OMIM:154400 |
| Gitelman Syndrome |
|
Ataxia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Chondrocalcinosis |
OMIM:263800 |
| Leigh Syndrome |
|
Ventricular septal defect, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Ren... |
ORPHA:506 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defec... |
ORPHA:373 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage, Proteinuria |
OMIM:616682 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, ... |
ORPHA:3472 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Diphallia |
|
Ureteral duplication, Hypospadias, Distal urethral duplication, Epispadias, Penoscrotal transposi... |
ORPHA:227 |
| Orofaciodigital Syndrome Type 2 |
|
Atrioventricular canal defect, Central retinal vessel vascular tortuosity |
ORPHA:2751 |
| 2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:251014 |
| Trisomy 18 |
|
Atrial septal defect, Ventricular septal defect, Hydronephrosis |
ORPHA:3380 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal cyst, Polycystic kidney d... |
OMIM:102500 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:607721 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
| Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Aortic valve stenosis, Hydronephr... |
OMIM:272950 |
| Orofaciodigital Syndrome Xiv |
|
Ventricular septal defect, Epispadias, Patent ductus arteriosus, Unilateral renal hypoplasia, Atr... |
OMIM:615948 |
| Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Hydroureter, Ventricular septal defect, Hypospadias, Ectopic ki... |
OMIM:135900 |
| Distal Deletion 6P |
|
Atrial septal defect |
ORPHA:96125 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... |
OMIM:187300 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent lower respiratory tract infections, Ventricular septal defect |
OMIM:619229 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
| Femoral-Facial Syndrome |
|
Ventricular septal defect, Micropenis, Polycystic kidney dysplasia, Pulmonic stenosis, Truncus ar... |
OMIM:134780 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:613355 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Perimembranous ventricular septal defect, Micropenis, Hyd... |
OMIM:301040 |
| Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Hepatitis, Congenital pulmonary airway malformation, Abnormal ductus c... |
ORPHA:436252 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... |
ORPHA:363700 |
| 3Q29 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:251038 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
| Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Horseshoe kidney |
ORPHA:1106 |
| Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Patent ductus a... |
OMIM:619522 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Ventricular septal defect |
OMIM:619306 |
| Perlman Syndrome |
|
Pancreatic islet-cell hyperplasia, Renal hamartoma, Interrupted aortic arch |
OMIM:267000 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Micropenis, Ventricular septal defect |
ORPHA:251028 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch, Unilateral renal agenesis |
ORPHA:457284 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
| Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr... |
OMIM:107480 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Mitral valve prolapse, Abnormal heart morphology, Enuresis noct... |
OMIM:615873 |
| Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Splenomegaly... |
ORPHA:2729 |
| Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypospadias, Phimosis, Smal... |
ORPHA:821 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:320 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Hepatoblastoma, Splenopancreatic fusion, Atrial sept... |
OMIM:269150 |
| Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Pneumonia, Hypospadias, Ectopic kidney, Proteinuria, Vesicoureteral re... |
OMIM:122470 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia |
ORPHA:3138 |
| Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect |
OMIM:620072 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Atrial septal defect |
ORPHA:522077 |
| Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
| Goldberg-Shprintzen Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect |
OMIM:609460 |
| Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
| Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Horseshoe kidney, Ectopic kidney |
OMIM:227645 |
| Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
| Oculodentodigital Dysplasia |
|
Atrial septal defect, Neurogenic bladder |
OMIM:164200 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Long penis, B... |
OMIM:268300 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Proteinuria, Focal segme... |
OMIM:619127 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Recurrent respiratory infections, Prolonged neonatal jaundice, Atrial septal defect, Patent foram... |
OMIM:620186 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiomyopathy, Atrial septal defect, R... |
ORPHA:480880 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Pleural effusion, Chylothorax |
ORPHA:2526 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale |
OMIM:225250 |
| Trichothiodystrophy |
|
Cardiomyopathy, Recurrent bronchopulmonary infections, Ventricular septal defect |
ORPHA:33364 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Bilobate gallbladder, Patent ductus... |
OMIM:261540 |
| Proboscis Lateralis |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral agenesis... |
ORPHA:141099 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level |
OMIM:607364 |
| Orofaciodigital Syndrome Type 14 |
|
Epispadias, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve |
OMIM:271640 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect |
OMIM:614653 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection, Cystocele |
ORPHA:285 |
| Oculodentodigital Dysplasia |
|
Neurogenic bladder, Ventricular septal defect |
ORPHA:2710 |
| Coffin-Siris Syndrome 12 |
|
Elevated hepatic transaminase, Hypospadias, Horseshoe kidney, Tetralogy of Fallot, Patent foramen... |
OMIM:619325 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Jau... |
OMIM:619475 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Stillbirth, Atrial septal defect, Dilatation of the sinus of Valsalva, Hydronephrosis |
OMIM:304120 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect |
ORPHA:1393 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Ataxia |
OMIM:618426 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia |
OMIM:219090 |
| Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Micropenis |
OMIM:613884 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Unilateral renal agenesis, Hyposp... |
ORPHA:268261 |
| Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
| Osteootohepatoenteric Syndrome |
|
Hypokalemia, Increased serum bile acid concentration |
OMIM:619377 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Enamel hypoplasia |
OMIM:170390 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, Secundum atrial septal defect, Subarterial ventricular septal defect, ... |
ORPHA:99646 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Camptodactyly, Joint contracture of the hand, Decreased circulating r... |
OMIM:201750 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Crossed fused renal ectopia, Hypospadias, Patent ductus arteriosus, Chordee, Micropenis, Patent f... |
OMIM:619841 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
| Adrenocortical Carcinoma |
|
Hypokalemia |
ORPHA:1501 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Chordee, Patent foramen ovale, Hypospadias |
ORPHA:477993 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Atrial septal defe... |
OMIM:606170 |
| Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:601321 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Ureteropelvic junction obstruction, Vesicovaginal fistula |
OMIM:300896 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro... |
ORPHA:261552 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Biliary tract abnormality, Atrial septa... |
OMIM:194190 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
| Pearson Syndrome |
|
Ataxia, Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia |
ORPHA:699 |
| Pseudoaminopterin Syndrome |
|
Asplenia, Patent foramen ovale, Horseshoe kidney |
ORPHA:221120 |
| Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Recurrent respiratory infections, Hypospadias, Pneumonia, Secundum atrial ... |
OMIM:264090 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis |
OMIM:250220 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary v... |
ORPHA:261537 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
| Early Infantile Epileptic Encephalopathy |
|
Micropenis, Ventricular septal defect, Ureterocele |
ORPHA:1934 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Unilateral renal agenesis, Recurrent upper respiratory... |
OMIM:308205 |
| Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Bicuspid aortic valve, Pulmonary artery sling, Urinary incontinence... |
ORPHA:2152 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Atypical scarrin... |
ORPHA:534 |
| Faciocardiomelic Syndrome |
|
Common atrium |
OMIM:612731 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90793 |
| Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Renal ... |
ORPHA:199 |
| Norrie Disease |
|
Venous insufficiency |
ORPHA:649 |
| Pallister-Killian Syndrome |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Coarctation of aort... |
OMIM:601803 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... |
OMIM:219800 |
| Vipoma |
|
Hypokalemia, Hypercalcemia, Subcutaneous lipoma |
ORPHA:97282 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
| Scorpion Envenomation |
|
Hypokalemia, Increased circulating NT-proBNP concentration, Ataxia, Increased circulating creatin... |
ORPHA:466677 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Recurrent pneumonia, Ventricular septal defect, Hydronephrosis, Recurrent bronchitis |
OMIM:620330 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomyopathy, Aspiration pneumonia, Micropenis, Tetralo... |
OMIM:216340 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hypokalemia, Increased circulating renin level |
ORPHA:508 |
| Distal Renal Tubular Acidosis |
|
Hypokalemia |
ORPHA:18 |
| Proximal Renal Tubular Acidosis |
|
Hypokalemia, Enamel hypomineralization, Bicarbonaturia |
ORPHA:47159 |
| Nelson Syndrome |
|
Hypokalemia |
ORPHA:199244 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia |
ORPHA:786 |
| Ulnar-Mammary Syndrome |
|
Micropenis, Ventricular septal defect |
OMIM:181450 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia |
ORPHA:91347 |
