Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Cryptorchidism, Unilateral Or Bilateral |
|
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transposition of the grea... |
OMIM:231060 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary venous return, Recurrent sinopu... |
ORPHA:244 |
Diabetic Embryopathy |
|
Hydrocephalus, Cleft palate, Tetralogy of Fallot, Abnormality of the pancreas, Ventricular septal... |
ORPHA:1926 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Fetal Trimethadione Syndrome |
|
High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition ... |
ORPHA:1913 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Intestin... |
OMIM:616749 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atre... |
OMIM:306955 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-resistant diabetes me... |
ORPHA:90301 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... |
OMIM:605376 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Short stature, Pulmon... |
OMIM:601186 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... |
OMIM:615382 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... |
ORPHA:3097 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Intrauterine growth retardation, S... |
ORPHA:1937 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Hydrocephalus, Aortic valve stenosis, Atrial septal ... |
OMIM:220210 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Transpositi... |
ORPHA:1727 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... |
OMIM:619902 |
Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Increased blood urea nitrogen, Hypergonadotropic hypogona... |
OMIM:154230 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... |
OMIM:615415 |
Aa Amyloidosis |
|
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of t... |
ORPHA:85445 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Biliary atresia, Ventricular septal defect, Pancreatic hypoplasia, U... |
OMIM:600001 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Intrauterine growth retardation, Double... |
OMIM:270100 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal d... |
ORPHA:251071 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen |
ORPHA:89844 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Short stature, Pulmonic stenosis, Spina bifida occulta, Transposition of the great a... |
OMIM:617877 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Ventri... |
OMIM:614876 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Short stature, Pulmonic sten... |
ORPHA:3426 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... |
ORPHA:1686 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Hydrocephalus, Atrioventricular canal defect, Tracheoesophageal fistula, Transposit... |
OMIM:314390 |
Sonoda Syndrome |
|
Ventricular septal defect, Short stature |
OMIM:270460 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Growth delay, Atrial septal defect, Pulmonic stenosis, Tetralogy o... |
OMIM:179613 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Biliary atresia, Ventricular sept... |
ORPHA:2255 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... |
ORPHA:1354 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Cleft palate, Anencephaly, Ectopia cordis, Pulmonary hypoplasia, Patent ductus art... |
OMIM:313850 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Carpenter Syndrome 1 |
|
High palate, Atrial septal defect, Short stature, Pulmonic stenosis, Tetralogy of Fallot, Spina b... |
OMIM:201000 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial... |
OMIM:263200 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Cholestasis, Ventricular septal defect, Branchial anomaly... |
ORPHA:1296 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
Thakker-Donnai Syndrome |
|
Anal atresia, Tracheoesophageal fistula, Tetralogy of Fallot, Communicating hydrocephalus, Ventri... |
ORPHA:1780 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Abnormal circulating lipid concentration, Erectile... |
ORPHA:481 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia |
ORPHA:306550 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries, High palate, Short stature |
OMIM:619995 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Short stature, Pulmonic stenosis, Ventricular septal defect, Patent ductus ... |
OMIM:249670 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia |
OMIM:615297 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Ververi-Brady Syndrome |
|
High palate, Intrauterine growth retardation, Transposition of the great arteries, Short stature |
OMIM:617982 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Patent foramen ovale, Macroglossia |
OMIM:616789 |
Whim Syndrome 2 |
|
Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Postnatal growth retardation, Intestinal atresia, Short stature |
OMIM:614326 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Hydrocele testis, Nephrotic syndrome, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Cleft palate, Truncus arteriosus, Hydranencephaly |
OMIM:601355 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Transposition of the great arteries, Cerebral cavernous malformation, Secundum atrial septal defe... |
OMIM:619910 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Abnormality of the endocrine system, Ambiguous genitalia, male, Hypopla... |
ORPHA:753 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... |
ORPHA:210122 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Spina... |
ORPHA:2476 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism |
OMIM:616030 |
Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Short stature, Ventricular septal defect, Dilated cardiomyopathy, Intrauteri... |
ORPHA:2515 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia |
OMIM:609886 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Thrombocytopenia, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:617021 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... |
ORPHA:3304 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect, Recurrent respiratory infections |
OMIM:253300 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Cholelithiasis, Hydrocephalus, Atrial septal defect, Short stature... |
OMIM:614886 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... |
ORPHA:251004 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect, Jejunal atresia, Short stature |
ORPHA:391646 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Cleft palate, Tetralogy of Fallot |
ORPHA:217 |
Mirage Syndrome |
|
Hydrocephalus, Lymphopenia, Short stature, Aspiration pneumonia, Intracranial hemorrhage, Leukope... |
OMIM:617053 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Hepatomegaly, Jaundice, Short stature, Splenomegaly, Ventricular septal def... |
ORPHA:290 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Pulmonary hyp... |
OMIM:208540 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
Tetralogy Of Fallot |
|
Intrauterine growth retardation, Tetralogy of Fallot |
ORPHA:3303 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy, Short stature |
OMIM:614947 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Hepatomegaly, Elevated circulating long chain fatty acid concen... |
OMIM:608836 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Cleft palate, Abnormal lung lobation, Ventricular septal defect, Intrauterin... |
ORPHA:2516 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Cleft palate, Short stature, Glossoptosis, Ventricular septal defect |
ORPHA:1388 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Pulmonic stenosis, D... |
OMIM:253800 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly... |
OMIM:232220 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Unilateral renal agene... |
OMIM:308750 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Esophageal varix, Portal hypertension,... |
OMIM:616589 |
Endocrine-Cerebroosteodysplasia |
|
Sex reversal, Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Ambiguous genital... |
OMIM:612651 |
Hadziselimovic Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Short stature, Tetralogy of Fallot, Pulmonary ar... |
OMIM:612946 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Exocrine pancreatic insufficiency, Atrial septal defect, Hepatomeg... |
ORPHA:1667 |
Xanthinuria, Type Ii |
|
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... |
OMIM:603592 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Hepatomegaly, Short stature, Pulmonic stenosis, Leukopenia, Pulmon... |
OMIM:301056 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kid... |
OMIM:232200 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... |
OMIM:601005 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Atrial septal defect, Cleft palate, Persistence of hemoglobin ... |
OMIM:612561 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Elevated circulating creatine kinase concentration, Decreased fertility |
OMIM:313200 |
Transaldolase Deficiency |
|
Decreased liver function, Atrial septal defect, Hepatomegaly, Micronodular cirrhosis, Splenomegal... |
OMIM:606003 |
Facial Dysmorphism With Multiple Malformations |
|
Anal atresia, Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... |
OMIM:227255 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:477817 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolactin concentration, Noctu... |
OMIM:223360 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, High palate, Intrauterine growth retardation, Hypoplastic left hea... |
ORPHA:2209 |
Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Cleft palate, Short stature, Holoprosencephaly, Anencephaly, Tetralogy of Fallot, ... |
ORPHA:1908 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cleft palate, Short stature, Tetralogy of Fallot, Ventricular septal defect, Abnormality of the p... |
ORPHA:1166 |
Uremic Pruritus |
|
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... |
ORPHA:94059 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:619717 |
Short Rib-Polydactyly Syndrome |
|
Disproportionate short-limb short stature, Cleft palate, Intestinal malrotation, Hepatic cysts, S... |
ORPHA:1505 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephroblastoma, Over... |
OMIM:130650 |
H Syndrome |
|
Amenorrhea, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Hypertrig... |
ORPHA:168569 |
Meckel Syndrome, Type 4 |
|
Hydrocephalus, Atrial septal defect, Cleft palate, Anencephaly, Ventricular septal defect, Mening... |
OMIM:611134 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... |
OMIM:274150 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Neu-Laxova Syndrome 1 |
|
Stillbirth, Cleft palate, Short umbilical cord, Hydranencephaly, Ventricular septal defect, Small... |
OMIM:256520 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cleft palate, Short stature, Pulmonary artery hypoplasia, Anomalou... |
ORPHA:2326 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Atrial septal defect, Abnormal pericardium morphology, Cleft palate, Anencephaly, ... |
ORPHA:1335 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Neonatal death, Truncus arteriosus |
OMIM:228940 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, High palate |
ORPHA:261120 |
Hypoglossia With Situs Inversus |
|
High palate, Situs inversus totalis, Microglossia, Polysplenia, Asplenia |
OMIM:612776 |
Down Syndrome |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Macroglossia, Atrioventricular... |
OMIM:190685 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... |
OMIM:235400 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Short stature, Hypoplastic spleen, Ankyloglossia, Asplenia |
OMIM:602361 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Roifman Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Eosinophilia, Ventricular septal defect, Noncompaction... |
OMIM:616651 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Peripheral pulmonary artery stenosis, Cleft palate, Tetralogy of Fallot, Ventricular septal defec... |
OMIM:280000 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Intestinal malrotation, Pulmonary artery atresia, Ventricular septal defect... |
ORPHA:401935 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Urethritis, Ur... |
ORPHA:449395 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Enlarged kidney... |
OMIM:617303 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Intestinal malrotation, Splenogonadal f... |
OMIM:156810 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:617044 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hepatic failure, Median cleft lip a... |
ORPHA:699 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Hiatus hernia, Persistence of hemoglobin F, Recurrent upper respiratory tra... |
OMIM:619769 |
Noonan Syndrome 12 |
|
Lymphopenia, Tetralogy of Fallot, Ventricular septal defect, Anteriorly placed anus, Thrombocytop... |
OMIM:618624 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Atrial septal defect, Hepatomegaly, Splenomegaly, Cirrhosis, Inflammation of the l... |
OMIM:614576 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Asplenia |
OMIM:601086 |
Vater/Vacterl Association |
|
Anal atresia, Intrauterine growth retardation, Tracheoesophageal fistula, Occipital encephalocele... |
OMIM:192350 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Narrow palate, Atrial septal defect, Cleft palate, Short stature, ... |
OMIM:618223 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus |
ORPHA:83473 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Amenorrhea, Testicular atrophy, Impotence, Hepatome... |
OMIM:235200 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Pulmonary hypoplasia, Hypoplastic left atrium |
OMIM:615524 |
Cat Eye Syndrome |
|
Tricuspid atresia, Anal atresia, Atrial septal defect, Hypoplastic left heart, Cleft palate, Rect... |
OMIM:115470 |
Catel-Manzke Syndrome |
|
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Ventricular septal defect, Dextroc... |
OMIM:616145 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Pyloric stenosis |
OMIM:614262 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect, Short stature |
OMIM:616901 |
Li-Campeau Syndrome |
|
Atrial septal defect, Short stature, Ventricular septal defect, Patent ductus arteriosus, Patent ... |
OMIM:619189 |
Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... |
OMIM:614954 |
Mosaic Trisomy 9 |
|
High palate, Atrial septal defect, Cleft palate, Intestinal malrotation, Abnormal liver lobulatio... |
ORPHA:99776 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Thyroiditis, Hyperlipidemia, Hepatomegaly, Irregular menstruation, Menorrhagia, ... |
ORPHA:79259 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow palate, Hypoplasia of the thymus, Ventricular septal defect, Pulmonary hypopl... |
OMIM:617022 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Cleft palate, Recurrent viral upper respiratory ... |
OMIM:616898 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... |
OMIM:603860 |
Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Hepatomegaly, Splenomegaly, Short stature, Hepatic failure, Cholestasis, Ventricul... |
OMIM:615630 |
Tyrosinemia, Type I |
|
Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprotein, Elevated urinar... |
OMIM:276700 |
Diaphanospondylodysostosis |
|
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney |
OMIM:608022 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Anal atresia, Atrial septal defect |
ORPHA:3469 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia, Anemia, Ventricular septal defect, Abnormal tricuspid valve... |
ORPHA:3405 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Intestinal... |
ORPHA:2847 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Intrauterine growth retardation |
OMIM:614815 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Hydrocephalu... |
ORPHA:2306 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
Coffin-Siris Syndrome 10 |
|
Ventricular septal defect |
OMIM:618506 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Stroke, Atrial septal defect, Short stature, Ventricular septal defect, Thr... |
ORPHA:49827 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Retrograde ... |
ORPHA:230 |
Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Duodenal atresia, Median cleft palate, Hypoplastic left heart, Cle... |
OMIM:301043 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Stroke, Atrial septal defect, Short stature, Ventricular septal defect, Sit... |
OMIM:249270 |
Chime Syndrome |
|
Pulmonary valve atresia, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Transposit... |
ORPHA:3474 |
Giant Cell Arteritis |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:397 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen, Hepatomegaly, Renal insufficiency, Proteinuria, Male hypogonadism,... |
ORPHA:90321 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Intrauterine growth retardation, Duodenal atresia, Lymphopenia, Ente... |
OMIM:243150 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Aganglionic megacolon |
OMIM:235750 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Elevated circulating as... |
OMIM:614034 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, High palate, Short stature |
ORPHA:3369 |
Methimazole Embryofetopathy |
|
Intrauterine growth retardation, Tracheoesophageal fistula, Coarctation of aorta, Ventricular sep... |
ORPHA:1923 |
Prune Belly Syndrome |
|
Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malrotation, Tetralogy of Fall... |
ORPHA:2970 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Disproportionate short-limb short stature, Intrauterine growth retarda... |
ORPHA:2772 |
Fanconi Anemia, Complementation Group B |
|
Intrauterine growth retardation, Duodenal atresia, Hydrocephalus, Tracheoesophageal fistula, Apla... |
OMIM:300514 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Patent duc... |
OMIM:618142 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Renal dysplasia, Enlarged kidney, Ambiguous genitalia, Polycystic kidney dysplasia |
OMIM:613091 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Isolated Klippel-Feil Syndrome |
|
Ectopic anus, Anal atresia, Cleft palate, Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Syndromic Diarrhea |
|
Gastritis, Hepatomegaly, Hepatoblastoma, Ventricular septal defect, Intrauterine growth retardati... |
ORPHA:84064 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydrocephalus, Hepatomegaly, Hepatoblastoma, Cleft palate, Ventricular septal defect, Umbilical h... |
OMIM:312870 |
3C Syndrome |
|
Ectopic anus, Abnormal mitral valve morphology, Anal atresia, Hydrocephalus, Atrial septal defect... |
ORPHA:7 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Anal atresia, Atrial septal defect, Atrioventricular canal defect, Tetralogy of Fallot, Ventricul... |
OMIM:600123 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Noonan Syndrome 8 |
|
Atrial septal defect, Short stature, Pulmonic stenosis, Left ventricular hypertrophy, Ventricular... |
OMIM:615355 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Short stature, Ventricular septal defect, Patent ductus arteriosus, Intraut... |
OMIM:608406 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, High palate, Short stature |
OMIM:314320 |
X-Linked Intellectual Disability, Nascimento Type |
|
Double outlet right ventricle, Mitral stenosis, Peripheral pulmonary artery stenosis, Tetralogy o... |
ORPHA:163956 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glomerular sclerosi... |
OMIM:223900 |
Restrictive Dermopathy |
|
Atrial septal defect, Short umbilical cord, Large placenta, Small placenta, Dextrocardia, Patent ... |
ORPHA:1662 |
Lambotte Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Semilobar holoprosencephaly |
OMIM:245552 |
Acrocephalopolydactylous Dysplasia |
|
Pancreatic fibrosis, Cystic renal dysplasia, Hepatomegaly, Enlarged kidney |
OMIM:200995 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralo... |
ORPHA:2184 |
Emanuel Syndrome |
|
High palate, Anal atresia, Intrauterine growth retardation, Aortic valve stenosis, Atrial septal ... |
OMIM:609029 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney, Pancreatic... |
ORPHA:464329 |
Cardiofacioneurodevelopmental Syndrome |
|
Cleft palate, Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventric... |
OMIM:619123 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:618652 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Cleft palate, Bifid uvula, Ventricular septal defect, Protruding tongue, Patent du... |
OMIM:612938 |
Tyshchenko Syndrome |
|
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Cleft palate, Short statur... |
OMIM:615102 |
Leprechaunism |
|
Hypokalemia, Hyperinsulinemia, Hepatomegaly, Hypercalciuria, Long penis, Increased circulating re... |
ORPHA:508 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Short stature, Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus |
OMIM:218350 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:618974 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Alport Syndrome 3, Autosomal Dominant |
|
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
Transketolase Deficiency |
|
Atrial septal defect, Hepatomegaly, Abnormal coronary artery course, Ventricular septal defect, P... |
ORPHA:488618 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Ectopic anus, Cleft palate |
ORPHA:94066 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Stillbirth, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Cholestasis, Ventricular septal defect, Esophageal varix, Umbilica... |
OMIM:301068 |
Kawasaki Disease |
|
Leukocytosis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... |
ORPHA:2331 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, ... |
OMIM:617751 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Bilateral cleft lip and palate, Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Cleft palate, Short stature, Increased hepatic glycogen content, Chronic hepatitis,... |
OMIM:614921 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:613458 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Encephalocele, Cleft palate |
ORPHA:398156 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Secundum atrial septal defect, Cleft palate, Tetralogy of Fall... |
OMIM:612562 |
Hypouricemia, Renal, 2 |
|
Nephrolithiasis, Hypouricemia |
OMIM:612076 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... |
ORPHA:284169 |
Weill-Marchesani Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Short stature |
ORPHA:3449 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Clef... |
OMIM:619895 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Enlarged kidney, Adrenocortical carcinoma, Cardiomegaly, Nephrolithiasis, Splenomeg... |
ORPHA:116 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale,... |
ORPHA:500159 |
Serkal Syndrome |
|
Pulmonic stenosis, Malrotation of small bowel, Ventricular septal defect, Pulmonary hypoplasia, G... |
ORPHA:139466 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins |
OMIM:126320 |
Phaver Syndrome |
|
Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect, Hypo... |
ORPHA:2876 |
Distal Monosomy 15Q |
|
Mitral stenosis, Abnormal cardiac septum morphology, Double outlet right ventricle with doubly co... |
ORPHA:1596 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Intestinal malrotation, Accessory... |
OMIM:618280 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Hydrocephalus, Leukemia |
OMIM:602501 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Testicular atrophy, Hyperuricemia |
OMIM:300322 |
Filippi Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:272440 |
Mcdonough Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Short stature, Pulmonic stenosis, Ventricular septal... |
OMIM:248950 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy |
OMIM:616277 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Renal Cysts And Diabetes Syndrome |
|
Glycosuria, Pancreatic hypoplasia, Elevated circulating creatinine concentration, Proteinuria, Hy... |
OMIM:137920 |
Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Pulmonic s... |
OMIM:610205 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Short stature, Pulmonic stenosis, Ventricular septal defect, Hypertrophic c... |
OMIM:615279 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, High palate, Tetralogy of Fallot |
OMIM:613398 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Hypouricemia, Renal, 1 |
|
Hyperuricosuria, Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid ... |
OMIM:220150 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... |
ORPHA:392 |
Autosomal Recessive Polycystic Kidney Disease |
|
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Recurrent urina... |
ORPHA:731 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
High palate, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Growth delay |
OMIM:613457 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Gro... |
OMIM:300963 |
Pelger-Huet Anomaly |
|
Neutropenia, Median cleft palate, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Ventri... |
OMIM:169400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Thrombocytopenia, Ventricular septal defect, Normochromic anemia, Persistent left... |
OMIM:618775 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Hepatosplenomegaly, Heparan sulfate excretion in urine, Enlarged kidney, Urin... |
ORPHA:505248 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Hydroureter, Hypothyroidism, Hydronephrosis, Diabetes mellitus, Neurogenic bl... |
OMIM:222300 |
Alg9-Cdg |
|
Hypoplasia of the ovary, Ureteral hypoplasia, Bicornuate uterus, Hepatomegaly, Hypoplasia of the ... |
ORPHA:79328 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Ventricular septal defect, Umbilical hernia, Postnatal growth retardat... |
ORPHA:254534 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Patent ductus arteriosus, Aganglionic megacolon, Atrial septal defect |
OMIM:613870 |
Diamond-Blackfan Anemia 5 |
|
Short stature, Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Re... |
OMIM:612528 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Cleft palate, Short stature, Coarctation of ... |
OMIM:600987 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Malabsorption, Exocrine pancreatic insufficiency, Ventricular septal defect, Patent ductus arteri... |
ORPHA:452 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Ankyloglossia, Glossoptosis |
OMIM:618021 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Double aortic arch, Recurrent upper respiratory tract inf... |
ORPHA:95430 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Situs inversus totalis, Recurrent bronchitis, Pneumonia, Bronchiecta... |
OMIM:244400 |
Kagami-Ogata Syndrome |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ventricular septal defect, P... |
OMIM:608149 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly, Tracheoesophageal fistula, Ventricular septal defect, Patent du... |
ORPHA:77298 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart |
OMIM:618901 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
Leigh Syndrome With Leukodystrophy |
|
Ventricular septal defect, Anemia, Hypertrophic cardiomyopathy |
ORPHA:255241 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula |
OMIM:619083 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Cleft palate, Right ventricular hypertrophy, Short stature, Ventricular sep... |
OMIM:614261 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Short stature, Ventricular septal defect, Pulmonary artery stenosis, Intrau... |
ORPHA:75389 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Growth delay, High palate, Tetralogy of Fallot |
ORPHA:3306 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Hepatomegaly, Cholestatic liver disease, Right ventricular hypertrophy, Ven... |
OMIM:613404 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Amenorrhea, Testicular atrophy, Infertility, Decrea... |
ORPHA:465508 |
Viss Syndrome |
|
High palate, Tortuous cerebral arteries, Chronic gastritis, Celiac disease, Aortic tortuosity, Pu... |
OMIM:619472 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... |
ORPHA:980 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Arteriovenous malformation, Hydrocephalus, Cirrhosis, Leukop... |
ORPHA:974 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Stroke, Atrial septal defect, Aortic valve stenosis, Anomalous branches of... |
ORPHA:363705 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Atrial septal defect, Hepatomegaly, Short stature, Pulmonic stenosis, Cervical lym... |
OMIM:602782 |
Keutel Syndrome |
|
Short stature, Ventricular septal defect, Recurrent sinusitis, Pulmonary artery stenosis, Recurre... |
ORPHA:85202 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Proportionate short stature, High palate, Cleft palate |
OMIM:609654 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Short stature, Intestinal malrotation, Coarctati... |
OMIM:617602 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Hepatomegaly, Periportal fibrosis, Splenomegaly, Intestinal malrotation, Holoprose... |
OMIM:269860 |
Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Hepatomegaly, Reduced number of intra... |
ORPHA:52 |
Emanuel Syndrome |
|
High palate, Anal atresia, Ectopic anus, Intrauterine growth retardation, Aortic valve stenosis, ... |
ORPHA:96170 |
Mosaic Trisomy 16 |
|
Atrial septal defect, Single coronary artery origin, Coarctation of aorta, Large placenta, Ventri... |
ORPHA:1708 |
Frank-Ter Haar Syndrome |
|
Double outlet right ventricle, High palate, Atrial septal defect, Secundum atrial septal defect, ... |
OMIM:249420 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Normochromic anemia, Reticulocytopenia, Elevated re... |
OMIM:615550 |
Cystinuria |
|
Nephrolithiasis, Hematuria, Hyperuricemia, Renal insufficiency |
ORPHA:214 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Stroke, Myofiber disarray, Pulmonary edema, Muscular ventricular septal... |
OMIM:115197 |
Johnson Neuroectodermal Syndrome |
|
Cleft palate, Short stature, Ventricular septal defect, Patent ductus arteriosus, Growth delay, R... |
OMIM:147770 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia, Short stature |
ORPHA:3204 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta, Short stature |
OMIM:616559 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Secundum at... |
OMIM:619909 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Atrial septal defect, Cholestatic liver disease, Right ventricular hypertro... |
OMIM:208085 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Jaundice, Short stature, Pulmonic stenosis, Splenomegaly, Cirrhosis, Hepatic failur... |
OMIM:222470 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
High palate, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microves... |
OMIM:619418 |
Short Stature-Micrognathia Syndrome |
|
High palate, Cleft palate, Short stature, Ventricular septal defect, Rhizomelia, Intrauterine gro... |
OMIM:617164 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Double outlet right ventricle, High palate, Hypoplastic left heart, Muscular ventricular septal d... |
OMIM:619503 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Impotence, Increased blood urea nitrogen, Hemoglobinuria, Glycosuria, Dec... |
ORPHA:447 |
Aphalangy With Hemivertebrae |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:207620 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Ventri... |
OMIM:619343 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Anal atresia, Atrial septal defect, Cleft palate, Coarctation of aorta, Tetralog... |
ORPHA:2008 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormality of mesentery morphology |
ORPHA:2256 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate |
OMIM:214300 |
Desbuquois Syndrome |
|
Ventricular septal defect, Disproportionate short-limb short stature, Severe short stature |
ORPHA:1425 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect, Cleft palate |
OMIM:243440 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Ventricular septal defect, Elevated hepatic transaminas... |
OMIM:615673 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
High palate, Anal atresia, Hydrocephalus, Atrial septal defect, Tetralogy of Fallot, Ventricular ... |
OMIM:612582 |
Trisomy 13 |
|
Atrial septal defect, High, narrow palate, Cleft palate, Abnormal lung lobation, Ventricular sept... |
ORPHA:3378 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Intestinal malrotation, Tetralogy of Fallot |
ORPHA:2328 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Splenomegaly, Increased serum beta-hexosaminidase, Enlarged kidney, Mucopolysacchar... |
OMIM:252500 |
Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Short statur... |
OMIM:192430 |
Braddock-Carey Syndrome 1 |
|
Cleft palate, Ventricular septal defect, Anteriorly placed anus, Aortic valve prolapse, Growth de... |
OMIM:619980 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Hydrocephalus, Cleft palate |
OMIM:147800 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Umbilical hernia |
ORPHA:2143 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... |
ORPHA:329224 |
Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Anal atresia, Intrauterine growth retardation, Hydrocephalus,... |
OMIM:249000 |
Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Short stature, Macrocytic anemia, Ventricular s... |
OMIM:614294 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Short stature, Coarctation of aorta, Tetralogy of Fallot, Bifid uvula, Vent... |
OMIM:617159 |
Lymphedema-Distichiasis Syndrome |
|
Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Varicose ... |
OMIM:153400 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Rhizomelia |
ORPHA:93267 |
Ogden Syndrome |
|
Hydrocele testis, Global glomerulosclerosis, Hyperbilirubinemia, Maternal diabetes, Enlarged kidn... |
OMIM:300855 |
Charge Syndrome |
|
Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Umbilical hernia, Aplasia/Hyp... |
OMIM:214800 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Anal atresia, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Coarctat... |
OMIM:264480 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Ventricular septal defect, Pulmonary hypoplasia, Pleural effusion, Hypertrophic car... |
OMIM:616897 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Cleft palate, Short stature, Bifid uvula, Ventricular septal defect |
OMIM:608572 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Short stature, Anteriorly placed anus, Umbilical hernia |
ORPHA:1488 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft palate, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductus... |
OMIM:600460 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Severe intrauterine growth retardation, Duodenal atresia, Atrial septal defect, Short stature, Co... |
OMIM:614114 |
Noonan Syndrome 10 |
|
Mitral stenosis, High palate, Atrial septal defect, Short stature, Pulmonic stenosis, Left ventri... |
OMIM:616564 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Intrauterine growth retardation |
OMIM:617635 |
Stormorken Syndrome |
|
Short stature, Anemia, Thrombocytopenia, Stroke-like episode, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Vascular ring |
OMIM:603387 |
Microphthalmia, Syndromic 2 |
|
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Short stature, Pulmon... |
OMIM:300166 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Macroglossia, Short stature, Ventricular septal defect, Patent foramen ovale, Umbili... |
ORPHA:369891 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
High palate, Hepatomegaly, Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Umb... |
ORPHA:96191 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Hepatomegaly, Cleft palate, Splenomegaly, Hepatic failure, Pulmonary lymphangiectasi... |
OMIM:235255 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect, Growth delay |
OMIM:619908 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus |
OMIM:617516 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Cleft palate, Short stature, Glossoptosis, Short hard palate, Hydranencephaly, ... |
ORPHA:1393 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Seckel Syndrome 9 |
|
Atrial septal defect, Short stature, Ventricular septal defect, Pulmonary artery hypoplasia, Intr... |
OMIM:616777 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Carpenter Syndrome 2 |
|
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Situs inversus totalis, De... |
OMIM:614976 |
Noonan Syndrome 2 |
|
Mitral stenosis, High palate, Atrial septal defect, Atrioventricular canal defect, Pulmonic steno... |
OMIM:605275 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Atrioventricular canal defect, Hypoplasia of the thymus, Conotr... |
ORPHA:40366 |
Filippi Syndrome |
|
Severe short stature, Short stature, Ventricular septal defect, Growth delay, Intrauterine growth... |
ORPHA:3255 |
Meckel Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Accessory spl... |
ORPHA:564 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Cleft palate, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia, Pulmonary... |
OMIM:611812 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Cleft palate, Short stature |
ORPHA:261190 |
Gm1 Gangliosidosis |
|
Cherry red spot of the macula, Macroglossia, Aspiration pneumonia, Short stature, Splenomegaly, H... |
ORPHA:354 |
Mckusick-Kaufman Syndrome |
|
High palate, Ectopic anus, Anal atresia, Atrial septal defect, Hypoplastic left heart, Cleft pala... |
ORPHA:2473 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Cleft palate, Short stature, Intestinal malrotation, Ventricular septal def... |
ORPHA:457193 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Short stature, Ventricular septal defect, Patent foramen ovale, Neutropenia... |
OMIM:609053 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Velopharyngeal insufficiency |
OMIM:613680 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal atresia, Intestinal malrotation, Hypoplasia of the thymus, Peritoneal abscess, Ventric... |
ORPHA:436252 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Hepatomegaly, Splenomegaly, Hepatic failure, Pulmonary lymphangiectasia, Hepatosplen... |
ORPHA:1655 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Short stature, Cleft palate, Umbilical hernia |
ORPHA:1770 |
Chops Syndrome |
|
Anomalous pulmonary venous return, High, narrow palate, Short stature, Aspiration pneumonia, Sple... |
OMIM:616368 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Cleft palate, Intestinal malrotation, Ventricular septal defect, Patent duc... |
OMIM:244300 |
Codas Syndrome |
|
Ventricular septal defect, Extrahepatic biliary duct atresia, Short stature |
ORPHA:1458 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, High, narrow palate, Cleft palate, Short stature, Branchial fistula, Ventri... |
ORPHA:261330 |
Suleiman-El-Hattab Syndrome |
|
High palate, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Recurrent res... |
OMIM:618950 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... |
OMIM:601808 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
High palate, Atrial septal defect, Short stature, Ventricular septal defect, Intrauterine growth ... |
OMIM:617452 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney, Renal malrotation |
ORPHA:500095 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
High palate, Short stature, Bifid uvula, Ventricular septal defect, Recurrent aspiration pneumoni... |
OMIM:300472 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
High palate, Cleft palate, Short stature, Ventricular septal defect, Patent ductus arteriosus |
ORPHA:52055 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:99095 |
King-Denborough Syndrome |
|
Ventricular septal defect, High palate, Short stature |
OMIM:619542 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Hepatomegaly, Ventricular septal defect, Elevated hepatic transaminase, Dil... |
ORPHA:26793 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic stenosis, Ventricular septal de... |
ORPHA:435638 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Atrial septal defect, Mild postnatal growth retardation, Pleural lymphangiectasia,... |
OMIM:235510 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Short stature, Ventricular septal defect, Patent ductus arteriosus, Patent ... |
OMIM:618870 |
Insulin-Like Growth Factor I, Resistance To |
|
High palate, Atrial septal defect, Short stature, Ventricular septal defect, Patent foramen ovale... |
OMIM:270450 |
Diamond-Blackfan Anemia 10 |
|
Steroid-responsive anemia, Cleft palate, Short stature, Macrocytic anemia, Ventricular septal def... |
OMIM:613309 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Intrauterine growth retardation, Abnorma... |
ORPHA:494344 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
High palate, Atrial septal defect, Short stature, Ventricular septal defect, Intrauterine growth ... |
ORPHA:505237 |
Feingold Syndrome 1 |
|
High palate, Annular pancreas, Duodenal atresia, Tracheoesophageal fistula, Accessory spleen, Pat... |
OMIM:164280 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Short stature, Disproportionate short-trunk short stature |
ORPHA:85194 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... |
ORPHA:99094 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Growth delay, Intrauterine growth retardation, Cleft palate |
ORPHA:447980 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Hydrocephalus, Vascular dilatation |
OMIM:219730 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent foramen ovale, Short stature |
OMIM:618027 |
Congenital Tracheal Stenosis |
|
Anal atresia, Duodenal atresia, Meckel diverticulum, Hypoplastic left heart, Abnormal stomach mor... |
ORPHA:141127 |
19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Cleft palate, Ventricular septal defect, Hepatic steatosis, Intrauterine gr... |
ORPHA:254346 |
Tatton-Brown-Rahman Syndrome |
|
Ventricular septal defect, Atrial septal defect, Umbilical hernia |
OMIM:615879 |
Zellweger Syndrome |
|
High palate, Malabsorption, Hepatomegaly, Short stature, Hepatic failure, Ventricular septal defe... |
ORPHA:912 |
Phace Association |
|
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... |
OMIM:606519 |
Orofaciodigital Syndrome V |
|
High palate, Cleft palate, Bifid tongue, Bifid uvula, Tetralogy of Fallot, Lobulated tongue, Vent... |
OMIM:174300 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Cystic pattern on pulmonary HRCT, Elevated bronchoalveolar lavage fluid neu... |
OMIM:610978 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Dilated cardiomyopathy, High palate, Cleft palate |
OMIM:616730 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Cleft palate, Short stature, Holoprosencephaly, Ventricular septal defect, Pulmonary... |
OMIM:612530 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Ventricular septal defect, Growth delay, Recurrent respiratory infections |
OMIM:615508 |
Recombinant 8 Syndrome |
|
Atrial septal defect, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Patent ductus... |
ORPHA:96167 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Atrioventricular canal de... |
ORPHA:453499 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Recurrent upper respiratory tract infections, Severe postnatal growth ... |
ORPHA:3078 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Galloway-Mowat Syndrome 7 |
|
High palate, Cleft palate, Short stature, Ventricular septal defect, Dilated cardiomyopathy |
OMIM:618348 |
Meier-Gorlin Syndrome 7 |
|
High palate, Anal atresia, Atrial septal defect, Cleft palate, Short stature, Ventricular septal ... |
OMIM:617063 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Dilated cardiomyopathy |
OMIM:607598 |
Ogden Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Pulmonary artery stenosis, High, narrow ... |
ORPHA:276432 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Coarctation of aorta, Te... |
ORPHA:96147 |
Aarskog-Scott Syndrome |