Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Renal agenesis, Unilateral cryptorchidism |
OMIM:219050 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... |
OMIM:231060 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... |
OMIM:614779 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the great ar... |
OMIM:306955 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Diabetic Embryopathy |
|
Ventricular septal defect, Abnormality of the pancreas, Hydrocephalus, Cleft palate, Spinal dysra... |
ORPHA:1926 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... |
OMIM:619657 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Neonatal death, Pulmonary artery atresia, Si... |
OMIM:601186 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Asplenia, Situs inversus totalis, Atrioventricular canal de... |
OMIM:605376 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co... |
OMIM:617872 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... |
OMIM:608978 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... |
ORPHA:3097 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Cleft palate, Growth delay, Hypoplastic left heart, Transposition of t... |
ORPHA:1727 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine... |
OMIM:613759 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... |
OMIM:270100 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Pulmonary hypoplasia,... |
OMIM:314390 |
Eng-Strom Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect, S... |
ORPHA:1937 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate, Hypoplasti... |
OMIM:220210 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricuspid valve, Patent... |
OMIM:600001 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Patent ductus arteriosus, Pulmonary artery stenosis, Growth delay, Hypertrophic ca... |
ORPHA:251071 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Intrauterine growth retardation, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... |
ORPHA:730 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Short stature, Submucous cleft hard palate, Do... |
ORPHA:3426 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... |
OMIM:615415 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short stature, Perimembranous ventricular septal defect, High palate, Transposition of the great ... |
OMIM:617877 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:614876 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defect, Pancreatic hypoplas... |
ORPHA:2255 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Growth delay, ... |
OMIM:179613 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, A... |
OMIM:154230 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Transpo... |
OMIM:313850 |
Sonoda Syndrome |
|
Ventricular septal defect, Short stature |
OMIM:270460 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Spina bifida occulta, High pa... |
OMIM:201000 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotat... |
OMIM:618316 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport... |
ORPHA:1354 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal f... |
ORPHA:1780 |
Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
Lambert Syndrome |
|
Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia... |
ORPHA:1296 |
Ververi-Brady Syndrome |
|
Intrauterine growth retardation, High palate, Transposition of the great arteries, Short stature |
OMIM:617982 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... |
OMIM:194080 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron... |
OMIM:613845 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Short stature, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial sep... |
OMIM:249670 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Ventricular septal defect, Short stature, Dextrotransposition of the great arteries |
OMIM:619995 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Ventricular septal defect, Short stature, Intestinal atresia |
OMIM:614326 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Short stature, Postnat... |
OMIM:620210 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect, Short stature |
ORPHA:391646 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Short stature, High, narrow palate, Dilated cardiomyopathy, Intrauteri... |
ORPHA:2515 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atrial septal defect,... |
ORPHA:3304 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Short stature, Patent ductus arteriosus, Hydrocephalus, Growth del... |
OMIM:614886 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:253300 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Mirage Syndrome |
|
Short stature, Patent ductus arteriosus, Esophageal stricture, Hydrocephalus, Anemia, Leukopenia,... |
OMIM:617053 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Cleft palate |
OMIM:601355 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... |
OMIM:263200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Incr... |
ORPHA:251004 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... |
ORPHA:2476 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Malformation of t... |
OMIM:208540 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Intrauterine growth ... |
OMIM:616276 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Jaundice, Thrombocytopenia,... |
ORPHA:290 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Elevated circulating cr... |
OMIM:608836 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... |
ORPHA:2516 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Short stature, Megarectum... |
OMIM:301056 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Dextrocardia, Situs inversus totalis |
OMIM:618948 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Jaundice, Grow... |
ORPHA:1667 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft palate, Pulmona... |
OMIM:615524 |
Catel-Manzke Syndrome |
|
Short stature, Ventricular septal defect, Cleft palate, Glossoptosis, Atrial septal defect |
ORPHA:1388 |
Nemaline Myopathy 9 |
|
High palate, Ventricular septal defect, Cleft palate |
OMIM:615731 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis,... |
OMIM:616589 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Short stature, High palate, Atrial septal def... |
OMIM:612946 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration |
OMIM:313200 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Fo... |
OMIM:232220 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:612561 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration, Increased blood urea nitrogen, Retrograde ejaculatio... |
OMIM:223360 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... |
OMIM:232200 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Anemi... |
OMIM:185070 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Short stature, Ventricular septal defect, Patent ductus arteriosus, Pulmonary sequestration, Atri... |
OMIM:618330 |
Drug-Induced Lupus Erythematosus |
|
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:231111 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... |
ORPHA:1908 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Thro... |
OMIM:606003 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... |
ORPHA:2209 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Short stature, Cleft palate, Abnormal aortic morphology, Tetralogy of ... |
ORPHA:1166 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... |
OMIM:611134 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
H Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Abnormality of the kidney, Hepatosplenomegaly, Azoosperm... |
ORPHA:168569 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Short stature, Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrota... |
ORPHA:2326 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:280000 |
Hypoglossia With Situs Inversus |
|
Asplenia, Situs inversus totalis, High palate, Polysplenia, Microglossia |
OMIM:612776 |
Gracile Bone Dysplasia |
|
Short stature, Asplenia, Hydrocephalus, Hypoplastic spleen, Ankyloglossia |
OMIM:602361 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Cleft palate, Lobulated tongue, Intrahepatic ... |
OMIM:614815 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc... |
OMIM:130650 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... |
ORPHA:1335 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Short stature, Protruding tongue, Complete atri... |
OMIM:190685 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, E... |
OMIM:192350 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Roifman Syndrome |
|
Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Short statur... |
OMIM:616651 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Abnormal heart morphology, Atrial septal defec... |
ORPHA:401935 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, Double outle... |
OMIM:616652 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft palate,... |
OMIM:256520 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulati... |
OMIM:235200 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot, Anteriorly placed anus, Lymphopenia, Thrombocytop... |
OMIM:618624 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t... |
OMIM:619769 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
Pearson Syndrome |
|
Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytosis, Cardiomy... |
ORPHA:699 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... |
OMIM:265380 |
Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis |
OMIM:601086 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Patent ... |
OMIM:619189 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... |
OMIM:617044 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegal... |
OMIM:614576 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stat... |
OMIM:115470 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Hyperinsulinemia, Elevated circulating creatinine concentration,... |
ORPHA:230 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Spina bifida, Asplenia,... |
ORPHA:99776 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe... |
OMIM:616898 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig... |
OMIM:612651 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... |
ORPHA:371428 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Hydrocephalus, Cholestasis,... |
OMIM:615630 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle morphology, Paten... |
ORPHA:2306 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... |
ORPHA:2847 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Duodenal atresia, Abnormal aortic morphology, Abnormal tricuspid valve... |
ORPHA:3405 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... |
OMIM:601005 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Short stature, Patent ductus arteriosus, Narrow palate, Cleft palate, T ly... |
OMIM:618223 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Ventricular septal defect |
OMIM:613730 |
Chime Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Acute leukemia, Transposition of th... |
ORPHA:3474 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Irregular menstruation, Thyroidi... |
ORPHA:79259 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Anal atresia |
ORPHA:3469 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Giant Cell Arteritis |
|
Glossitis, Pericarditis, Abnormal pleura morphology, Mediastinal lymphadenopathy, Recurrent phary... |
ORPHA:397 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Submucous cleft ha... |
OMIM:301043 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Increased blood urea nitrogen, Ma... |
ORPHA:90321 |
Verheij Syndrome |
|
Branchial cyst, Short stature, Ventricular septal defect, Cleft palate, Growth delay, Intrauterin... |
OMIM:615583 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Di... |
OMIM:614034 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Short stature, Situs inversus totalis, Thiamine-... |
OMIM:249270 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Megaloblastic anemia, Stroke, Atrial septal defect, Thr... |
ORPHA:49827 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... |
ORPHA:1923 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Leukocytosis, Ce... |
ORPHA:2331 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, High palate, Atrial... |
OMIM:618142 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Patent ductu... |
ORPHA:2970 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Exaggerated median to... |
OMIM:312870 |
Restrictive Dermopathy |
|
Dextrocardia, Large placenta, Patent ductus arteriosus, Submucous cleft hard palate, Ascending tu... |
ORPHA:1662 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Anal atresia |
ORPHA:2345 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Postnatal growth retardation, High palate, Ventricular septal defect, Short stature |
ORPHA:3369 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hydroce... |
OMIM:300514 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Disproportion... |
ORPHA:2772 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... |
ORPHA:2184 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypo... |
ORPHA:84064 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ectopic anus, Ventricular septal defect, Cleft palate |
ORPHA:94066 |
3C Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, In... |
ORPHA:7 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Short stature, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, A... |
OMIM:619123 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Bronchiectasis, Anemia, Leukopenia, High palate, Atrial septal defect,... |
OMIM:620184 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Short stature, Double outlet right ventricle with doubly c... |
ORPHA:1596 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Pleural effusion, Pulmonic st... |
OMIM:615355 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicular atrophy |
OMIM:300322 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Double out... |
ORPHA:163956 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Semilobar holoprosencephaly |
OMIM:245552 |
Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Ventricular septal defect, Short stature |
OMIM:314320 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Hydrocephalus, Cleft pala... |
OMIM:612938 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Short stature, High, narrow palate, Narrow palate, Cleft palate, High ... |
OMIM:615102 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... |
OMIM:619895 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Patent... |
ORPHA:284169 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Short stature, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus |
OMIM:218350 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts |
OMIM:263630 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Phaver Syndrome |
|
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... |
ORPHA:2876 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged ... |
ORPHA:464329 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiect... |
OMIM:244400 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612562 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
OMIM:617751 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... |
OMIM:618280 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Proportionate short sta... |
ORPHA:488618 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Ventricular septal defect, Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect, Cleft palate |
ORPHA:398156 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Ovarian cyst, Hyperparathyroidism, Unilateral renal agenesis |
OMIM:618188 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
ORPHA:500159 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Intestinal malro... |
OMIM:609029 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, High palate, Intrauterine growth retarda... |
OMIM:613398 |
Serkal Syndrome |
|
Ventricular septal defect, Malrotation of small bowel, Growth delay, Pulmonary hypoplasia, Pulmon... |
ORPHA:139466 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Hypothyroidism, Hepatomeg... |
ORPHA:116 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Alagille Syndrome 2 |
|
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... |
OMIM:610205 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Hypothyroidism, Hydroneph... |
OMIM:222300 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, Hypoplasi... |
OMIM:617022 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Short stature, Secundum atrial septal defect, Congenital lobar overinf... |
OMIM:600987 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Ventricular septal defect, Hydrocephalus |
OMIM:602501 |
Filippi Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect |
OMIM:272440 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... |
ORPHA:508 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... |
OMIM:612474 |
Cardiofaciocutaneous Syndrome 3 |
|
Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic c... |
OMIM:615279 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Postnatal growth retardation, Large placenta, Abnormal heart morpholog... |
ORPHA:254534 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Ventricular septal defect, Malabsorption, Patent ductus arteriosus, Exocri... |
ORPHA:452 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Ventricular septal defect, Mitral atresia, Portal hypertension, Cleft soft pala... |
OMIM:619503 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... |
OMIM:618775 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... |
ORPHA:505248 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... |
OMIM:269860 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Biliary hyperplasia, Pancr... |
ORPHA:731 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Aganglionic megacolon, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613870 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Short stature, Erythroid hypoplasia, Reticulocytope... |
OMIM:612528 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... |
OMIM:608149 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hydrocephalus, Tracheoes... |
ORPHA:77298 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Growth delay, High palate, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Bicornuate uterus, Hypoplasia of th... |
ORPHA:79328 |
Mosaic Trisomy 16 |
|
Meckel diverticulum, Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnorma... |
ORPHA:1708 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... |
OMIM:619472 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventric... |
OMIM:619909 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... |
ORPHA:95430 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Short stature, Pulmonary artery stenosis, Atrial septal defect, Intrau... |
ORPHA:75389 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Growth delay, Hi... |
OMIM:249420 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula |
OMIM:619083 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, High, narrow palate, Patent ductus arteriosus, Narrow palat... |
OMIM:614976 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Retroperitoneal fibrosis, S... |
OMIM:602782 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Macroglossia, ... |
OMIM:615668 |
Keutel Syndrome |
|
Recurrent respiratory infections, Short stature, Ventricular septal defect, Pulmonary artery sten... |
ORPHA:85202 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Jau... |
OMIM:613404 |
Short Stature And Facioauriculothoracic Malformations |
|
High palate, Ventricular septal defect, Proportionate short stature, Cleft palate |
OMIM:609654 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia |
ORPHA:3204 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Cardiomegaly,... |
ORPHA:465508 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... |
OMIM:208085 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Patent ductus ar... |
ORPHA:96170 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cholestasis, Reduced number of intrahepatic bile ducts, ... |
ORPHA:52 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Noonan Syndrome 9 |
|
Short stature, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Ventricular septal defect, Short stature, Increased mean platelet ... |
OMIM:222470 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Short stature, Velopharyngeal insufficiency, Submucous cleft hard pala... |
OMIM:192430 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, High palate, Atrial septal de... |
OMIM:612582 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, High, narrow palate, Cleft palate, Coarctation of aorta, Abnormal hear... |
OMIM:618494 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukocytosi... |
OMIM:615673 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Microvesicul... |
OMIM:619418 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... |
OMIM:164280 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Intestinal malrotation |
ORPHA:2143 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Intestinal malrotation, Malformation of the hepatic du... |
OMIM:249000 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate |
OMIM:214300 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Cleft palate, Coarctation of aorta, Atrial septal def... |
ORPHA:2008 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect, Cleft palate |
OMIM:617616 |
Desbuquois Syndrome |
|
Severe short stature, Ventricular septal defect, Disproportionate short-limb short stature |
ORPHA:1425 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Growth de... |
OMIM:619980 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Ventricular septal defect, Cleft palate |
OMIM:147800 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation |
ORPHA:2328 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Cong... |
OMIM:611812 |
Ogden Syndrome |
|
Global glomerulosclerosis, Maternal diabetes, Cardiomegaly, Cryptorchidism, Hydrocele testis, Hyp... |
OMIM:300855 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Anterio... |
OMIM:617159 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... |
OMIM:252500 |
Trisomy 13 |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal lung lobation,... |
ORPHA:3378 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Abnormal mesentery morphology, Ventricular septal defect |
ORPHA:2256 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Short stature, Cleft palate, Growth d... |
OMIM:614294 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Short stature, Cleft palate, Atrial septal defect, Patent foramen oval... |
OMIM:614261 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Cardiomegaly, Cleft palate, Hypertrophic cardiomyopathy, Pulmonary hyp... |
OMIM:616897 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Ventricular septal defect |
ORPHA:93267 |
Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Umbilical hernia, Ventricular septal defect, Short stature |
ORPHA:1488 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short stature, Abnormal heart morphology, Macroglossia, High palate, U... |
ORPHA:369891 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Postnatal growth retardatio... |
OMIM:300963 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Charge Syndrome |
|
Secundum atrial septal defect, Holoprosencephaly, Pulmonary artery atresia, Atrial septal defect,... |
OMIM:214800 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... |
OMIM:264480 |
Burn-Mckeown Syndrome |
|
Short stature, Ventricular septal defect, Cleft palate, Atrial septal defect, Bifid uvula |
OMIM:608572 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Short stature, Patent ductus arteriosus, Hypoplastic aor... |
OMIM:300166 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Short stature, Rhizomelia, Abnormal lung lobation, Coarctation of aort... |
OMIM:614114 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, High palate, Hypoplasia of the thymus, Atrioventricular canal defect, Median ... |
ORPHA:40366 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Cleft pala... |
ORPHA:1393 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Cleft palate, Coarc... |
OMIM:600460 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Bilateral lung agenesis, Gl... |
OMIM:618021 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,... |
OMIM:620113 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature |
OMIM:617450 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu... |
ORPHA:96191 |
Sweeney-Cox Syndrome |
|
Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, High palate, Patent foramen ova... |
OMIM:617746 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Intrauterine growth retardation, Ventricular septal defect |
OMIM:617635 |
Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Shor... |
OMIM:601808 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Short stature, Patent ductus arteriosus, Mitral valve... |
OMIM:616564 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto... |
OMIM:615873 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Short stature, Patent ductus arteriosus, Cleft ... |
ORPHA:2473 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Ventricular septal defect |
OMIM:619908 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Intestinal malrotation, Short stature, Coarct... |
OMIM:617602 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... |
OMIM:235255 |
Meckel Syndrome |
|
Accessory spleen, Encephalocele, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia,... |
ORPHA:564 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Short stature, Pulmonary artery hypo... |
OMIM:616777 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate, Intracranial ... |
OMIM:614424 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Intrauterine growth retardation, Ventricular septal defect, Recurrent aspiration pneumonia |
ORPHA:79243 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Short stature, Patent ductus arteriosus, Cleft... |
ORPHA:457193 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Postnatal growth retardation, Splenomegaly, Pancreatic l... |
ORPHA:1655 |
Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, High palate, Atrial septal defect, P... |
OMIM:618950 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short stature, Paten... |
OMIM:605275 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Recurrent pneumonia, High pal... |
OMIM:300472 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Short stature, Splenomegaly, Patent ... |
ORPHA:354 |
King-Denborough Syndrome |
|
High palate, Ventricular septal defect, Short stature |
OMIM:619542 |
Filippi Syndrome |
|
Severe short stature, Ventricular septal defect, Short stature, Growth delay, Intrauterine growth... |
ORPHA:3255 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Short stature, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate |
ORPHA:52055 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Short stature, High palate, Atrial septal defect, Intrauterine growth ... |
OMIM:617452 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Short stature, Ventricular septal defect, Cleft palate |
ORPHA:261190 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Hepatitis, Intest... |
ORPHA:436252 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent respiratory infections, Branchial fistula, Ventricular septal defect, Short stature, Hi... |
ORPHA:261330 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Velopharyngeal insufficiency |
OMIM:613680 |
Chops Syndrome |
|
Ventricular septal defect, Short stature, Splenomegaly, Patent ductus arteriosus, High, narrow pa... |
OMIM:616368 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Bone marrow hypocellularity, Neutropenia, Atrial septal... |
OMIM:609053 |
Codas Syndrome |
|
Extrahepatic biliary duct atresia, Ventricular septal defect, Short stature |
ORPHA:1458 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Short stature, Ventricular septal defect, Cleft palate |
ORPHA:1770 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial ef... |
ORPHA:26793 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Cleft palate, Atrial... |
OMIM:244300 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Mening... |
OMIM:130720 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Mild postnatal growth retardation, Thyro... |
OMIM:235510 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect, Cleft palate |
OMIM:617201 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Patent ... |
OMIM:618870 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Pyloric stenosis, Cleft... |
ORPHA:435638 |
Insulin-Like Growth Factor I, Resistance To |
|
Severe short stature, Ventricular septal defect, Short stature, Growth delay, High palate, Atrial... |
OMIM:270450 |
Rere-Related Neurodevelopmental Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect, Abnorma... |
ORPHA:494344 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Ventricular septal defect, Short stature, High palate, Atrial septal defect, Intrauterine growth ... |
ORPHA:505237 |
19P13.3 Microduplication Syndrome |
|
Growth delay, Intrauterine growth retardation, Ventricular septal defect, Cleft palate |
ORPHA:447980 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Short stature, Patent ductus arteriosus, Reticulocy... |
OMIM:613309 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ... |
OMIM:174300 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo... |
ORPHA:141127 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Short stature, Ventricular septal defect, Cleft palate, High palate, Intrauterine gro... |
OMIM:617164 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:615879 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Protruding tongue, Conotruncal defect, Coarctation of aorta, Growth delay, Macroglossia, Abnormal... |
ORPHA:96147 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Short stature |
OMIM:618027 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Ventricular septal defect, Short stature, Postnatal growth re... |
ORPHA:2962 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Cleft palate, Atr... |
ORPHA:96167 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Short stature, Disproportionate short-trunk short stature |
ORPHA:85194 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Cleft palate, Atrial septal defect, Intrauterine growth retardation, H... |
ORPHA:254346 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cleft palate, Abnormal heart morphology, Furrow... |
ORPHA:453499 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Atrial septal defect |
OMIM:220500 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Short stature, Aortic root aneurysm, Pulmonary hypoplasia, Atrial sept... |
OMIM:145420 |
Zellweger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short stature, Malabsorption, Pyloric stenosis, Jaundice... |
ORPHA:912 |
Beck-Fahrner Syndrome |
|
High palate, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Severe postnatal growth retardation, Recurrent upper respiratory tract infections, Ventricular se... |
ORPHA:3078 |
Nephrotic Syndrome, Type 11 |
|
High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate |
OMIM:616730 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Short stature, Cleft palate, High palate, Holoprosencephaly, Pulmonary... |
OMIM:612530 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Galloway-Mowat Syndrome 7 |
|
Short stature, Ventricular septal defect, Dilated cardiomyopathy, Cleft palate, High palate |
OMIM:618348 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Short stature, Esophageal atresia, Pulmonary artery stenosis, Spina bi... |
OMIM:301030 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Ogden Syndrome |
|
Postnatal growth retardation, High, narrow palate, Pulmonary artery stenosis, Ventricular septal ... |
ORPHA:276432 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Kury-Isidor Syndrome |
|
Growth delay, High palate, Ventricular septal defect |
OMIM:619762 |
22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal ... |
ORPHA:567 |
Trisomy 1Q |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Cleft palate, Anal atresia |
ORPHA:261344 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, T... |
OMIM:153400 |
Heart And Brain Malformation Syndrome |
|
Growth delay, High, narrow palate, Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
C Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short stature, Patent ductus arteriosus, High palate |
OMIM:211750 |
19Q13.11 Microdeletion Syndrome |
|
Growth delay, Recurrent respiratory infections, Ventricular septal defect, Intrauterine growth re... |
ORPHA:217346 |
Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Aplastic anemia, Ventricular septal defect |
OMIM:610832 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Short stature, Patent ductus arteriosus, Cleft pal... |
OMIM:300712 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Intestinal malrotation, Cleft palate, Abnormal heart morphology, Bifid... |
ORPHA:404440 |
Costello Syndrome |
|
Ventricular septal defect, Short stature, Narrow palate, Mitral valve prolapse, Macroglossia, Pul... |
ORPHA:3071 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine growth retardation, ... |
OMIM:617360 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... |
OMIM:619991 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Tracheoesophageal fistula, Cl... |
ORPHA:2745 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Short stature, Pulmonic stenosis, Atrial septal defect, Hypertrophic c... |
OMIM:610733 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Short stature, Intrauterine growth reta... |
ORPHA:166035 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect, Short stature |
OMIM:616901 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia, Short stature |
OMIM:615503 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft... |
OMIM:100300 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... |
OMIM:233450 |
Coffin-Siris Syndrome |
|
Atrial septal defect, Ventricular septal defect, Postnatal growth retardation, Patent ductus arte... |
ORPHA:1465 |
Sotos Syndrome |
|
Ventricular septal defect, High, narrow palate, Muscular ventricular septal defect, Patent ductus... |
OMIM:117550 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, High palate, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Peri... |
OMIM:613001 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H... |
ORPHA:227990 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Short stature, Patent ductus arterio... |
OMIM:609942 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Spina bifida... |
ORPHA:2308 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Short stature |
OMIM:618325 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature, Pyloric stenosis, Patent ductus ... |
OMIM:610443 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnormal lung lobation, Cleft... |
OMIM:146510 |
Distal Duplication 5Q |
|
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Short stature |
ORPHA:96097 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Short stature, Mesomel... |
OMIM:605039 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Short stature... |
ORPHA:261494 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Short stature, Patent ductus arteriosus, Cleft palate,... |
OMIM:614609 |
Distal Deletion 19P |
|
Ventricular septal defect, Cleft palate, Tricuspid valve prolapse, Umbilical hernia, Pulmonary va... |
ORPHA:96129 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H... |
ORPHA:227982 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Short stature, Pulmonary artery sten... |
OMIM:300998 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Submucous cleft hard palate, ... |
ORPHA:457279 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Short stature, Patent ductus arteriosus, Hydroceph... |
ORPHA:163979 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... |
OMIM:618748 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:2519 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Short stature, Recurrent pneumonia, ... |
ORPHA:209905 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Short stature, Hydrocephalus, Cleft palate, Anterior... |
OMIM:309801 |
Trisomy 18 |
|
Ventricular septal defect, Short stature, Spina bifida, Esophageal atresia, Anencephaly, Cleft pa... |
ORPHA:3380 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... |
OMIM:619534 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, High, narrow palate, Meningocele, High palate, Umbilical hernia |
ORPHA:2789 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Short stature, Ventricular septal defect, Esophageal atresia, Cleft palate, Atrial septal defect |
OMIM:610536 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Narrow palate, Perimemb... |
OMIM:158170 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Aplasia... |
ORPHA:2092 |
Holoprosencephaly |
|
Encephalocele, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve m... |
ORPHA:2162 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Hol... |
OMIM:147791 |
Doors Syndrome |
|
Cleft palate, Sirenomelia, Narrow palate, High palate, Aspiration pneumonia, Thrombocytosis, Doub... |
ORPHA:79500 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... |
OMIM:269200 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Elevated circulating as... |
OMIM:614866 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Short stature, Proportionate short stature, Patent ductus arteriosus, ... |
OMIM:277600 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Ventricular septal defect, Short stature, Patent ductus arteriosus, Coronar... |
OMIM:620024 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Ventricular septal defect, Eosinophilia, Spina bifida, Short stature, Pancre... |
OMIM:274000 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Protruding tongue, High... |
OMIM:214100 |
Esophageal Atresia |
|
Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot... |
ORPHA:1199 |
Digeorge Syndrome |
|
High, narrow palate, Abnormal thymus morphology, Hypoplasia of the thymus, High palate, Hepatic s... |
OMIM:188400 |
Dysosteosclerosis |
|
Ventricular septal defect, Short stature |
ORPHA:1782 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Recurrent pneumonia, Cleft palate, Furrowed tongue, High palate, Atria... |
OMIM:616449 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo... |
OMIM:620025 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Tetralogy of ... |
OMIM:118450 |
16P13.11 Microdeletion Syndrome |
|
Short stature, Ventricular septal defect, Cleft palate, Holoprosencephaly, Atrial septal defect |
ORPHA:261236 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Short stature, Complete atrioventricular canal defect, ... |
OMIM:617063 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus ... |
OMIM:615582 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Short stature, Tetralogy of Fallo... |
ORPHA:508498 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Cleft palate, Coarctation of aorta, Pulmonary hypopl... |
ORPHA:1692 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Short stature, Congenital hypop... |
OMIM:105650 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Ventricular septal defect, Proportionate short stature, Postnat... |
ORPHA:79345 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholelithiasis |
OMIM:240300 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect, Cleft palate |
OMIM:106260 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Ventricular septal defect, Hypoplastic right heart, Short stature, Patent ductus arteriosus, Clef... |
OMIM:616894 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutrop... |
ORPHA:124 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Hypoplastic aortic arch, Coar... |
OMIM:617506 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Abnormal lun... |
OMIM:236680 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Unilateral cleft palate, Submucous cleft hard palate, Ventricular septal defect, Dysplastic pulmo... |
OMIM:619103 |
Kleefstra Syndrome 1 |
|
Macroglossia, Recurrent respiratory infections, Conotruncal defect, Protruding tongue |
OMIM:610253 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Protruding tongue, Postnatal growth retardation, Reduced alpha/beta sy... |
OMIM:301040 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Cleft ... |
OMIM:610759 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Intes... |
ORPHA:955 |
3Mc Syndrome 1 |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Cleft palate, ... |
OMIM:257920 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Macroglossia, Re... |
OMIM:618268 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Intestinal malrotation |
OMIM:222448 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Rectourethral fistula, Cleft palate, Growth delay, High palate, Umbili... |
OMIM:300000 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage |
ORPHA:369929 |
Radio-Tartaglia Syndrome |
|
High, narrow palate, High palate, Ventricular septal defect |
OMIM:619312 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Short stature, Reticulocytopenia, Anemia, Bone marrow hy... |
OMIM:227645 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, High, narrow palate, Recurrent pneumonia, Cleft palate, Furrowed tongu... |
ORPHA:464738 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, High palate, Ventricular septal defect |
OMIM:309520 |
Cohen Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Short stature, High, narrow palate, ... |
ORPHA:193 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:619525 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Short stature, Proportionate short stature, Patent ductus arteriosus, ... |
OMIM:608328 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Stroke-like e... |
ORPHA:137675 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intestinal malrotation, Clef... |
OMIM:263520 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Holoprosencephaly, Atrial septal defect, Hepatic steatosis, Bifid uvula, ... |
OMIM:270400 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Cleft pa... |
OMIM:616145 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Ventricular septal defect |
OMIM:234050 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Growth delay, M... |
OMIM:613457 |
Rubinstein-Taybi Syndrome 1 |
|
High, narrow palate, Aortic isthmus hypoplasia, Hepatic hemangioma, High palate, Atrial septal de... |
OMIM:180849 |
Marden-Walker Syndrome |
|
Severe short stature, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric st... |
ORPHA:2461 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Atrial septal defect, Anal atres... |
OMIM:607323 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Osteopathia Striata With Cranial Sclerosis |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stature, Patent ductus ar... |
OMIM:300373 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary valve morphology,... |
ORPHA:1507 |
Pseudoaminopterin Syndrome |
|
Short stature, Asplenia, Hydrocephalus, High palate, Patent foramen ovale |
ORPHA:221120 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Patent duc... |
ORPHA:79329 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Growth delay, Ventricular septal defect, Intestinal malrotation, Duodenal atresia |
OMIM:617798 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, Short stature, High, narrow palate, ... |
OMIM:619575 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Increased mean corpuscular volume, High palate... |
ORPHA:261250 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati... |
OMIM:229850 |
3Q29 Microduplication Syndrome |
|
High palate, Ectopic anus, Ventricular septal defect, Cleft palate |
ORPHA:251038 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Short stature, Rhizomelia, Pyloric stenosis, Pa... |
ORPHA:818 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Infancy onset short-trunk short stature, Truncus arteriosus, Ventricular septal d... |
ORPHA:508488 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Recurrent lower respiratory tract infections, Ventricular septal defect, Int... |
OMIM:619229 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Cleft palate, Coarctation of ... |
OMIM:618454 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Recurrent respiratory infections, Severe short stature, Ventricular septal defect, Patent ductus ... |
ORPHA:3047 |
Apert Syndrome |
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Overriding aorta, Ventricular septal defect, Esophageal atresia, Pyloric stenosis, Hydrocephalus,... |
OMIM:101200 |
Renal Agenesis |
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Ventricular septal defect, Pulmonary hypoplasia, Anal atresia |
ORPHA:411709 |
Larsen Syndrome |
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Ventricular septal defect, Short stature, Cleft palate, Atrial septal defect, Intrauterine growth... |
OMIM:150250 |
X Small Rings |
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Ventricular septal defect, Bicuspid aortic valve, Growth delay, Aortic root aneurysm, Mitral sten... |
ORPHA:96201 |
Degcags Syndrome |
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Leukopenia, Iron deficiency anemia, High palate, Atrial septal defect, Patent foramen ovale, Hepa... |
OMIM:619488 |
Rabson-Mendenhall Syndrome |
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Ventricular septal defect, Short stature, Furrowed tongue, Cardiomyopathy, Macroglossia, Severe p... |
ORPHA:769 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... |
OMIM:300967 |
Congenital Disorder Of Glycosylation, Type Iia |
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Postnatal growth retardation, Ventricular septal defect, Short stature, Protruding tongue |
OMIM:212066 |
X-Linked Intellectual Disability, Snyder Type |
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Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Eisenmenger Syndrome |
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Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia,... |
ORPHA:97214 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Accessory spleen, Ventricular septal defect |
OMIM:619306 |
Mycophenolate Mofetil Embryopathy |
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Hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Coarctation of aorta |
ORPHA:268249 |
Zttk Syndrome |
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Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Short stature, Patent du... |
OMIM:617140 |
Ulnar-Mammary Syndrome |
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Short stature, Ventricular septal defect, Pyloric stenosis, Ectopic anus, Delayed puberty, Anal a... |
ORPHA:3138 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Ventricular septal defect, Short stature, Patent ductus arteriosus, Furrowed tongue, High palate,... |
OMIM:616975 |
Marshall-Smith Syndrome |
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Ventricular septal defect, Short stature, Pyloric stenosis, Patent ductus arteriosus, Recurrent u... |
OMIM:602535 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Growth delay, High palate, Ventricular septal defect, Intrauterine growth retardation |
OMIM:614653 |
Trichothiodystrophy |
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Ventricular septal defect, Recurrent bronchopulmonary infections, High, narrow palate, Increased ... |
ORPHA:33364 |
Kaufman Oculocerebrofacial Syndrome |
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Ventricular septal defect, Intestinal malrotation, Short stature, Coarctation of aorta, High pala... |
OMIM:244450 |
Phelan-Mcdermid Syndrome |
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High palate, Patent ductus arteriosus, Ventricular septal defect |
OMIM:606232 |
Acrofacial Dysostosis 1, Nager Type |
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Ventricular septal defect, Aganglionic megacolon, Short stature, Aqueductal stenosis, Patent duct... |
OMIM:154400 |
Leigh Syndrome |
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Ventricular septal defect, Growth delay, Neutropenia, Intrauterine growth retardation, Hypertroph... |
ORPHA:506 |
7Q11.23 Microduplication Syndrome |
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Ventricular septal defect, Short stature, Patent ductus arteriosus, Hydrocephalus, Growth delay, ... |
ORPHA:96121 |
Diets-Jongmans Syndrome |
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Ventricular septal defect, Short stature, Interrupted inferior vena cava with azygous continuatio... |
OMIM:618846 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
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Short stature, Ventricular septal defect, Cleft palate |
OMIM:178110 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... |
ORPHA:352665 |
Cutis Laxa, Autosomal Dominant 1 |
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Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Codas Syndrome |
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Ventricular septal defect, Short stature, Rectovaginal fistula, Atrial septal defect, Atrioventri... |
OMIM:600373 |
Robinow Syndrome |
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Ventricular septal defect, Short stature, Bifid tongue, Abnormal heart morphology, Coarctation of... |
ORPHA:97360 |
Distal 22Q11.2 Microduplication Syndrome |
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Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Macrogloss... |
ORPHA:261337 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Postnatal growth retardation, High palate, Ventricular septal defect, Cleft palate |
ORPHA:251028 |
Noonan Syndrome 1 |
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Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Sh... |
OMIM:163950 |
Cerebellofaciodental Syndrome |
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Ventricular septal defect, Short stature, Mitral valve prolapse |
OMIM:616202 |
Hajdu-Cheney Syndrome |
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Ventricular septal defect, Intestinal malrotation, Short stature, Patent ductus arteriosus, Hydro... |
OMIM:102500 |
Cornelia De Lange Syndrome 1 |
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Ventricular septal defect, Pneumonia, Short stature, Hiatus hernia, Malrotation of colon, High, n... |
OMIM:122470 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Ventricular septal defect, Patent ductus arteriosus, Birth length less than 3rd percentile, Intra... |
ORPHA:464311 |
Specc1L-Related Hypertelorism Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Tetr... |
ORPHA:1519 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Short stature, Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Simpson-Golabi-Behmel Syndrome |
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Hepatomegaly, Atrial septal defect, Ventricular septal defect, Splenomegaly, High, narrow palate,... |
ORPHA:373 |
Teebi-Shaltout Syndrome |
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Short stature, Ventricular septal defect, High, narrow palate, Cleft palate, Aortic valve stenosis |
OMIM:272950 |
Cerebrocostomandibular Syndrome |
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Anal stenosis, Ventricular septal defect, Cleft soft palate, Postnatal growth retardation, Patent... |
OMIM:117650 |
Mosaic Trisomy 20 |
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Ventricular septal defect, Dysplastic tricuspid valve, Cleft palate, Abnormal mitral valve morpho... |
ORPHA:1724 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, In... |
ORPHA:353281 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
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Ventricular septal defect, Short stature |
OMIM:250410 |
Kabuki Syndrome 1 |
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Hemolytic anemia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stature... |
OMIM:147920 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Ventricular septal defect, Short stature, Pyloric stenosis, Patent ductus arteriosus, Intrauterin... |
ORPHA:464306 |
Tetraamelia Syndrome 1 |
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Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia,... |
OMIM:273395 |
Microphthalmia, Syndromic 3 |
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Ventricular septal defect, Short stature, Postnatal growth retardation, Esophageal atresia, Paten... |
OMIM:206900 |
Myhre Syndrome |
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Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Cleft p... |
OMIM:139210 |
Okamoto Syndrome |
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Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestinal malrotatio... |
ORPHA:2729 |
Johanson-Blizzard Syndrome |
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Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Short stature, Elev... |
OMIM:243800 |
Cerebellar-Facial-Dental Syndrome |
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Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Mitral ... |
ORPHA:444072 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Hepatomegaly, Atrial septal defect, Ventricular septal defect, Short stature, Postnatal growth re... |
ORPHA:96334 |
Alzahrani-Kuwahara Syndrome |
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Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Short stature, Per... |
OMIM:619268 |
Costello Syndrome |
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Ventricular septal defect, Short stature, Pyloric stenosis, Hydrocephalus, Pneumothorax, Mitral v... |
OMIM:218040 |
Chromosome 13Q14 Deletion Syndrome |
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Ventricular septal defect, Growth delay, High palate, Holoprosencephaly, Umbilical hernia, Patent... |
OMIM:613884 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Ventricular septal defect, Partial anomalous pulmonary venous return, Cleft palate, Growth delay,... |
OMIM:301044 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Spina bifida,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Spina bifida,... |
ORPHA:363958 |
Hand-Foot-Genital Syndrome |
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Ventricular septal defect |
ORPHA:2438 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
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Ventricular septal defect, Short stature, High palate, Pulmonic stenosis, Atrial septal defect, H... |
OMIM:607721 |
2Q31.1 Microdeletion Syndrome |
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Atrial septal defect, Short stature, Ventricular septal defect, Cleft palate |
ORPHA:251014 |
Orofaciodigital Syndrome Xiv |
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Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Patent ductus arteriosus... |
OMIM:615948 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Exaggerated median tongue furrow, Ventricular septal defect, Ventricular septal hypertrophy, Clef... |
OMIM:608670 |
Omodysplasia 1 |
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Rhizomelia, Ventricular septal defect, Pulmonary artery stenosis, Disproportionate short-limb sho... |
OMIM:258315 |
Coffin-Siris Syndrome 1 |
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Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Duodenal ulc... |
OMIM:135900 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Ventricular septal defect, Muscular ventricular septal defect, Hydrocephalus, Disproportionate sh... |
OMIM:210710 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnormal heart morphology, Gl... |
ORPHA:444077 |
Williams Syndrome |
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Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Rectal prolapse, Atri... |
ORPHA:904 |
Arboleda-Tham Syndrome |
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Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Secundum atr... |
OMIM:616268 |
Oculodentodigital Dysplasia |
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Umbilical hernia, Ventricular septal defect, Cleft palate |
ORPHA:2710 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... |
OMIM:607872 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal left ventricle... |
ORPHA:466791 |
Tbck-Related Intellectual Disability Syndrome |
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Macroglossia, High, narrow palate, Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, In... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, In... |
ORPHA:353277 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Patent duc... |
OMIM:616682 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Short stature, Cardiomegaly, Postnatal growth retardation, High, narro... |
ORPHA:3472 |
Renpenning Syndrome 1 |
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Ventricular septal defect, Short stature, Situs inversus totalis, Cleft palate, High palate, Atri... |
OMIM:309500 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Ventricular septal defect, Short stature, Hydrocephalus, Abnormal heart morphology, Mitral valve ... |
ORPHA:363700 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Ventricular septal defect, Short stature, Hydrocephalus, Malrotation of small b... |
OMIM:194190 |
Thauvin-Robinet-Faivre Syndrome |
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Transient neutropenia, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose v... |
OMIM:617107 |
Goldberg-Shprintzen Syndrome |
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Aganglionic megacolon, Ventricular septal defect |
OMIM:609460 |
Steinert Myotonic Dystrophy |
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Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Mowat-Wilson Syndrome |
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Bicuspid aortic valve, Pulmonary artery sling, Aganglionic megacolon, Short stature, Asplenia, Py... |
ORPHA:2152 |
Roberts-Sc Phocomelia Syndrome |
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Accessory spleen, Ventricular septal defect, Postnatal growth retardation, Patent ductus arterios... |
OMIM:268300 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Aganglionic m... |
ORPHA:261537 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Short stature, Patent ductus arteriosus, Anomal... |
ORPHA:438213 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Elevated hepatic transaminase, Bicuspid aortic valve, Ventricular septal defect, High, narrow pal... |
OMIM:619475 |
Keutel Syndrome |
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Peripheral pulmonary artery stenosis, Ventricular septal defect, Pulmonary artery hypoplasia, Pul... |
OMIM:245150 |
Femoral-Facial Syndrome |
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Short stature, Ventricular septal defect, Cleft palate, Pulmonic stenosis, Truncus arteriosus |
OMIM:134780 |
Peters-Plus Syndrome |
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Ventricular septal defect, Bilobate gallbladder, Rhizomelia, Postnatal growth retardation, Patent... |
OMIM:261540 |
Williams-Beuren Syndrome |
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Colonic diverticula, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Short... |
OMIM:194050 |
Mowat-Wilson Syndrome |
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Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Short stature, Pyloric ... |
OMIM:235730 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft palate, Short stature,... |
ORPHA:268261 |
Townes-Brocks Syndrome 1 |
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Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Hydrocephalus, Tracheoesophageal... |
OMIM:107480 |
Chromosome 16P13.3 Duplication Syndrome |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Bifid uvula |
OMIM:613458 |
Pallister-Hall Syndrome |
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Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnormal lung lobation, Micro... |
ORPHA:672 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Short st... |
OMIM:143095 |
Cardiospondylocarpofacial Syndrome |
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Ventricular septal defect, Short stature, Muscular ventricular septal defect, Dysplastic tricuspi... |
OMIM:157800 |
Penile Agenesis |
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Ventricular septal defect, Rectal fistula, Tracheoesophageal fistula, Bilateral lung agenesis, Pu... |
ORPHA:49 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Ventricular septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Growt... |
ORPHA:459070 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Severe short stature, Ventricular septal defect, Bicuspid aortic valve, Cleft palate, High palate... |
OMIM:271640 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Submucous cleft soft palate, Submucous cleft hard palate, Ventricular septal defect, Cleft palate |
ORPHA:1071 |
Early Infantile Epileptic Encephalopathy |
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Umbilical hernia, Ventricular septal defect, Cleft palate |
ORPHA:1934 |
Orofaciodigital Syndrome Type 14 |
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Ventricular septal defect, Hamartoma of tongue, Patent ductus arteriosus, Aplasia of the epiglott... |
ORPHA:434179 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Clef... |
OMIM:164210 |
Proboscis Lateralis |
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High palate, Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly |
ORPHA:141099 |
Craniotubular Dysplasia, Ikegawa Type |
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Ventricular septal defect, Short stature |
OMIM:619727 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth delay, High palate, At... |
OMIM:619522 |
Cornelia De Lange Syndrome |
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Ventricular septal defect, Intestinal malrotation, Short stature, Pyloric stenosis, Cleft palate,... |
ORPHA:199 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Ventricular septal defect, Recurrent pneumonia, High palate, Umbilical hernia, Bifid uvula, Recur... |
OMIM:620330 |
Osteoporosis-Pseudoglioma Syndrome |
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Ventricular septal defect, Short stature |
OMIM:259770 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Right aortic arch, Ventricular septal defect, Cleft palate |
ORPHA:513456 |
Sotos Syndrome |
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Ventricular septal defect, Aganglionic megacolon, Small cell lung carcinoma, Patent ductus arteri... |
ORPHA:821 |
Genitopatellar Syndrome |
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Anal stenosis, Ventricular septal defect, Malrotation of small bowel, Anteriorly placed anus, Pul... |
OMIM:606170 |
Ulnar-Mammary Syndrome |
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Anal stenosis, Ventricular septal defect, Pyloric stenosis, Delayed puberty, Anal atresia |
OMIM:181450 |
Pallister-Killian Syndrome |
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Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rhizomelia, Mesomelic/rhizomeli... |
OMIM:601803 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Pyloric stenosis, Growth delay, Cardiomyopathy, Birth length less than... |
OMIM:216340 |