Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Cleft palate, Renal cyst, Right aortic a... |
OMIM:231060 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate |
OMIM:261800 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... |
OMIM:618845 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... |
OMIM:618719 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Hypoplasti... |
ORPHA:3316 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Cryptorchid... |
ORPHA:1166 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular s... |
ORPHA:477817 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Cryptorchidism, Patent ductus arteriosus, High palate... |
ORPHA:3304 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:601927 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Renal agenesis, Cleft palate, Abnormal heart morphology, Abnormal cardiac septum morphology, Cong... |
ORPHA:294975 |
Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
Holzgreve Syndrome |
|
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hypoplastic left heart |
OMIM:236110 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycys... |
OMIM:173900 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmonic stenosis, Long... |
ORPHA:251076 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulation test, Ad... |
OMIM:220210 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat... |
ORPHA:3426 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Cryptorchidism... |
OMIM:179613 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macrogloss... |
OMIM:617022 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Pericardial effusion, Cleft palate, Polycystic kidney dysplasia, Hyperechogenic ... |
OMIM:613885 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Cleft palate, High palate, Arthrogryposis multiplex congenita, Nemalin... |
OMIM:615731 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:600987 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... |
OMIM:615542 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion... |
OMIM:617877 |
Trisomy 17P |
|
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Flexion c... |
ORPHA:261290 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Renal hypoplasia, Perimembranous ventricular se... |
OMIM:611376 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pu... |
OMIM:249670 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturned corners of mouth, Ar... |
ORPHA:1110 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic aneurysm, Asplen... |
OMIM:619657 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
Mmep Syndrome |
|
Cryptorchidism, Median cleft lip, Ventricular septal defect, Orofacial cleft |
ORPHA:3434 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Hepatosplenomegaly, Wide mouth, Abnormal cardiac septum morphology, Polycys... |
OMIM:608776 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Truncus arteriosus, Ventricular septal defect, Cleft palate |
OMIM:601355 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1937 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasi... |
OMIM:600001 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... |
OMIM:605376 |
Scimitar Syndrome |
|
Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle,... |
ORPHA:185 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... |
OMIM:145001 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Patent ductus arteriosus, Flexion contracture, Dilatation of the renal... |
ORPHA:314588 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Exaggerated cupid's bow, Deep philtrum, Patent ductus arteriosus, High... |
ORPHA:261120 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Parachute mitral va... |
OMIM:618316 |
Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, High palate, Widely spaced teeth, Pulmonic stenosis, Ta... |
OMIM:618205 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Hypoplasia of the thymus, High palate, Atrioventricular canal defect, Median ... |
ORPHA:40366 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Anemia, Perimembranous ventricular se... |
OMIM:608104 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricular septal defect, Hi... |
OMIM:618804 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, Renal hypoplasia, ... |
OMIM:612946 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Vascular dilatation, Polycystic kidney dysplasia |
OMIM:614859 |
Chromosome 9P Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, High, narrow palate, Deep philt... |
OMIM:158170 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava... |
OMIM:613759 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St... |
OMIM:613095 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Pancreatic fibrosis, Intestinal malrotation, Situs inversus totalis, Pancrea... |
OMIM:208540 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
RCAD (renal cysts and diabetes) |
|
Diabetes mellitus, Multiple renal cysts |
DECIPHER:47 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Patent du... |
OMIM:612561 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... |
OMIM:270100 |
Tetralogy Of Fallot |
|
Cryptorchidism, Thin vermilion border, Tetralogy of Fallot |
ORPHA:3303 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Short lingual frenulum, Renal agenesis, Hypogonadotropic hypogonadism, Anomalous origin of left c... |
ORPHA:2326 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis... |
ORPHA:1988 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cleft palate, Glossoptosis, Atrial septal def... |
ORPHA:1388 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Unilateral cleft lip, Hypospadias |
ORPHA:1919 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Ectopic kidney, Cryp... |
ORPHA:401935 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Cleft p... |
ORPHA:2516 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... |
OMIM:608227 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Inte... |
ORPHA:2970 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Abnormal renal morphology, Abnormal heart morpholo... |
ORPHA:2209 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Cleft ... |
OMIM:309801 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Cleft palate, Aplasia/Hypoplasia of the thymus, Hyp... |
ORPHA:1727 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Cleft palate, Abnormal heart morphology, Aminoaciduria, Hypoplasia of the thymus,... |
OMIM:214110 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect |
OMIM:614876 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Anal atresia, Tetralogy of Fallot, Abnormal pal... |
ORPHA:1381 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Ectopic anus, Hypoplastic left heart |
ORPHA:2476 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Facial palsy, Intestinal malrotation, Unilateral renal agenes... |
OMIM:113650 |
Fetal Minoxidil Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:1918 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect |
ORPHA:391646 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Abnormal heart morphology, Polycystic kidne... |
OMIM:263210 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Syndromic Diarrhea |
|
Lymphopenia, Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Gastritis, Increa... |
ORPHA:84064 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Renal cyst, Cleft palate, Horseshoe kidney, Lobulated tongue, Camptoda... |
OMIM:614815 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm,... |
OMIM:616652 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Cryptorchidism, Myopathy, Increased variability in muscle fiber diamet... |
OMIM:616816 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Thick up... |
OMIM:619717 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:616622 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Aplasi... |
ORPHA:1926 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Unilateral renal age... |
ORPHA:2237 |
Meckel Syndrome 13 |
|
Flexion contracture, Polycystic kidney dysplasia |
OMIM:617562 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ... |
ORPHA:139466 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Abnormal localization of kidney, N... |
ORPHA:83473 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Diaphragmatic eventration, Cleft palate, Abnormal heart morphology |
OMIM:600252 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidis... |
OMIM:615524 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ectopic anus, Short philtrum |
ORPHA:94066 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Cleft palate, Coarct... |
OMIM:620210 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Renal agenesis, Protruding tongue, Diastema, Cryptorchidi... |
OMIM:301040 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... |
OMIM:615996 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Neu... |
OMIM:612541 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Cleft palate |
OMIM:611867 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo... |
ORPHA:2473 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Cryptorchidism, Long philtru... |
OMIM:619189 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Abnormality of the thyroid gland, Esophageal atresia, Tra... |
ORPHA:1923 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Hypospadias, Short uvula, Renal hypoplasia, Cleft palate, Agenesis of per... |
OMIM:614091 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Oligo... |
OMIM:618330 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Splenom... |
OMIM:263200 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Narrow mouth, Cryptor... |
OMIM:616145 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, High palate, Transposition of the great arteries, Atrial ... |
ORPHA:1913 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... |
OMIM:243150 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Hamartoma of tongue, Cleft upper lip, Supernumerary tooth, Agenesi... |
OMIM:311200 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Median cleft lip, Renal hypoplasia/aplasia, Orofacial cleft... |
ORPHA:3186 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequ... |
OMIM:619980 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morpho... |
OMIM:613390 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Neurogenic bladder, Protruding tongue, Secundum atrial septal defect, Sp... |
OMIM:608779 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... |
OMIM:617478 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car... |
OMIM:608836 |
Apert Syndrome |
|
Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Esophageal atresia, Pylor... |
OMIM:101200 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total... |
ORPHA:244 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft... |
OMIM:618021 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Congenital diaphragmatic... |
OMIM:613630 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Splenomegaly, Esophageal varix, Renal hypoplasia, Truncus arteriosus |
OMIM:616589 |
Verheij Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Renal agenesis, Renal hypoplasia, Cleft pala... |
OMIM:615583 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Ventricular septal defect, Hypospadias, Pulmonary artery atresia, C... |
OMIM:301056 |
Diprosopus |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate |
ORPHA:1681 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Re... |
OMIM:615993 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Narrow mouth, Vesicoureteral reflux, Everted lower lip vermilion, Long... |
ORPHA:228399 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pyloric stenosis, Pulmonic stenosis, Camptodactyly, Atrial septal defe... |
OMIM:614262 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve prolapse, Pol... |
ORPHA:371428 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr... |
ORPHA:1335 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-brown urine, R... |
ORPHA:228308 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm... |
ORPHA:3097 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pituitary growth hormone cell adenoma, H... |
ORPHA:730 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Anal atresia, Narrow mouth |
ORPHA:3469 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:618348 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Dental malocclusi... |
OMIM:606232 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa... |
OMIM:618624 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosi... |
ORPHA:157 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Glutaric aciduria, Rhabdomyolysis, Lacticaciduria, Abn... |
ORPHA:26791 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst |
OMIM:263630 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft pa... |
OMIM:608572 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Accesso... |
OMIM:608978 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancrea... |
OMIM:263520 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Tetralogy of Fallot, Abnormality of the philtrum, Hypospadias, Abnormality of the dentition |
ORPHA:276422 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palat... |
OMIM:301043 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Short philtrum, Hypoplasia of the thymus, Vesicoureteral reflux,... |
ORPHA:567 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... |
OMIM:214800 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Carious... |
OMIM:613680 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... |
OMIM:616276 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus... |
OMIM:600460 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion bord... |
OMIM:615502 |
Distal Deletion 12Q |
|
Ectopic kidney, High, narrow palate, Vesicoureteral reflux, Micropenis, Patent foramen ovale, Eso... |
ORPHA:96149 |
Orofaciodigital Syndrome Type 5 |
|
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... |
ORPHA:2919 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Anemia, Focal segmental glomerulosclerosis, Neutropenia, Neph... |
OMIM:617056 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Facial palsy, Truncus arteriosus, Ventricular se... |
ORPHA:508498 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polysplenia, Polycystic kidney dysplasia |
OMIM:211890 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Ventricular septal d... |
OMIM:220500 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:214300 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
Meckel Syndrome, Type 4 |
|
Ventricular septal defect, Renal cyst, Cleft palate, Bile duct proliferation, Atrial septal defect |
OMIM:611134 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... |
OMIM:617616 |
Meckel Syndrome, Type 1 |
|
Adrenal hypoplasia, Asplenia, Lobulated tongue, Accessory spleen, Cleft upper lip, Cryptorchidism... |
OMIM:249000 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, Unilateral renal agenesis, High, narrow pala... |
OMIM:618494 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular septal defect, T... |
OMIM:618651 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Abnormality of the dentition, Cryptorchidism, Renal cyst, Hypogonadism |
OMIM:615982 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruption of permanent tee... |
OMIM:618506 |
Joubert Syndrome 39 |
|
Hypoplastic left heart, Joint contracture of the 5th finger, Polycystic kidney dysplasia |
OMIM:619562 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Renal tubular dysfunction, Atrial septal defect, Cholelithiasis, Double... |
OMIM:614886 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Increased overbite, Micropenis |
OMIM:618504 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Splenomegaly, Cleft palate, Renal cyst, H... |
OMIM:614866 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Short ph... |
ORPHA:1596 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Polycystic kidney dysplasia, Nephronophthisis, Dentinogenesis imperfec... |
OMIM:184260 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Cleft lip, Pulmonary artery stenosis, Acute lymphoblastic le... |
OMIM:280000 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... |
OMIM:618142 |
Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... |
OMIM:190685 |
Lambert Syndrome |
|
Wide mouth, Ventricular septal defect, Hypospadias |
ORPHA:1296 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... |
OMIM:249270 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
Epidermal Nevus Syndrome |
|
Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Rhabdomyosarcoma, Aortic a... |
ORPHA:35125 |
Fryns Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Hig... |
ORPHA:2059 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Supernumerary nipple, High, narrow palate, Cryptorchidism, Narrow pala... |
OMIM:615102 |
Wolcott-Rallison Syndrome |
|
Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney disease, Centra... |
ORPHA:1667 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Hypospadias, Cryptorchidism, Patent ductus art... |
OMIM:102500 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Pulmonary artery atresia, Atrial septal defect, Diaphragmatic ev... |
OMIM:601186 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Elevated... |
OMIM:606812 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham... |
OMIM:174300 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum |
OMIM:620393 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Accessory oral frenulum, Congenital diaphragmatic hernia, Cleft palate, Poly... |
OMIM:616546 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Deep philt... |
OMIM:300855 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Renal agenesis, Abnormal renal collecting sy... |
OMIM:134780 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar... |
OMIM:219730 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Congenital diaphragmatic he... |
OMIM:611812 |
Short Stature And Facioauriculothoracic Malformations |
|
High palate, Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:609654 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Down... |
OMIM:618652 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... |
OMIM:618974 |
Immunodeficiency 9 |
|
Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelogenesis imper... |
OMIM:612782 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Asplenia, Enlarged kidney, Aortic valve stenosis, Pul... |
OMIM:615415 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Deep philtrum, Patent ductus arteriosus, ... |
ORPHA:163956 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Precocious puberty, Cryptorchidism, High pa... |
ORPHA:3306 |
Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, Atrial septal defect, Microdontia, Mes... |
ORPHA:2044 |
Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Short philt... |
OMIM:188400 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal d... |
OMIM:612562 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Rena... |
ORPHA:75389 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Aase-Smith Syndrome I |
|
Open mouth, Flexion contracture, Ventricular septal defect, Cleft palate |
OMIM:147800 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, Thrombocytopenia, Leukopenia, High palate, Long philtru... |
OMIM:620184 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Renal agen... |
OMIM:115470 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum |
ORPHA:398156 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Renal hypoplasia/aplasia, Cleft palat... |
ORPHA:2345 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Hematuria, Lacunar stroke, Dilata... |
OMIM:611773 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Flexion cont... |
OMIM:180849 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Accessory spleen, Adre... |
OMIM:613177 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch... |
ORPHA:805 |
German Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Orofacial cleft, Abnormal cardiac septum morphology, Hig... |
ORPHA:2077 |
Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Ventricular septal defect, Broad alveolar ridges |
OMIM:314320 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... |
OMIM:612528 |
Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis |
OMIM:616559 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Multicystic kidney dysplasia, Abnormal palate morphology, Abnormality of the denti... |
ORPHA:3270 |
Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... |
OMIM:313850 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Renal cyst, Downturned co... |
ORPHA:261494 |
Woods Syndrome |
|
Thin vermilion border, Ventricular septal defect, Supernumerary nipple |
OMIM:615236 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Patent ductus ... |
OMIM:601005 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Enlarged kidney, Poly... |
OMIM:613091 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Thin upper lip vermilion, Diabetes mellitus, Hiatus hernia, Pancreatic cysts, Splenomegaly, Eleva... |
OMIM:610199 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P... |
ORPHA:3378 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:613870 |
Transaldolase Deficiency |
|
Pancytopenia, Ventricular septal defect, Thrombocytopenia, Deep philtrum, Patent ductus arteriosu... |
OMIM:606003 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Ventricular septal defect, Renal hypoplasia/aplasia, Non-midline cle... |
ORPHA:1770 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... |
OMIM:300400 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Broad secondary alveolar ridge, High palate, Ventricular septal defect |
ORPHA:3369 |
15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt... |
ORPHA:261190 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Vascular dilatation |
ORPHA:2924 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip |
OMIM:601357 |
Filippi Syndrome |
|
Ventricular septal defect, Cryptorchidism, Thin vermilion border, Short philtrum, Hypodontia, Mic... |
OMIM:272440 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Abnormality of the kidney, Cleft upper lip, A... |
ORPHA:96167 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm... |
OMIM:192430 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts... |
OMIM:267010 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, High, narrow palate, Renal hypoplasia, Micropenis, Tetralogy of Fallot |
OMIM:617926 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Non-m... |
ORPHA:2075 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,... |
ORPHA:2328 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Arthrogryposis multip... |
OMIM:607598 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect,... |
ORPHA:49827 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Downturned cor... |
OMIM:618067 |
Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Diabetes insipidus, Mediastinal lymphadenopathy, Vasculitis, H... |
ORPHA:397 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Abnormality of the urinary system, Tetralogy of Fallot, Anomalous pulmo... |
ORPHA:2184 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Thin upper lip vermilion, Bicuspid aortic valve, Muscular ventricular septal defect, Thick lower ... |
OMIM:612474 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
Holoprosencephaly 14 |
|
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... |
OMIM:619895 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Hyperthyroidism, Ventricular septal defect, Mitral stenosis, Camptodactyly o... |
ORPHA:2008 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Enlarged kidney, Urethral atresia, T... |
OMIM:314390 |
Emanuel Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, High palate, Atrial septal defect, Micropenis, ... |
OMIM:609029 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper l... |
ORPHA:861 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Thrombocytop... |
OMIM:169400 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Pulmonary artery atresia, Atrial septal defect, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
3C Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Intestinal malr... |
ORPHA:7 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great... |
OMIM:616789 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Pa... |
OMIM:617159 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Distal urethral duplication, Renal hypoplasia/aplasia, Maternal diabetes, Non-midline cleft lip, ... |
ORPHA:2549 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Pyloric stenosis, Patent ductus arteriosus, Cryptorchidis... |
OMIM:218350 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Ventricular septal defect, Leukemia, Smooth philtrum |
OMIM:602501 |
Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Thick lower lip vermilion, D... |
OMIM:618950 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenita... |
OMIM:614294 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Alveolar ... |
OMIM:612938 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Cleft l... |
OMIM:619343 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula |
OMIM:619083 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtrum, Patent ductus arteri... |
OMIM:615398 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Pulmonary... |
ORPHA:251071 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arter... |
OMIM:617516 |
Warsaw Breakage Syndrome |
|
Wide mouth, High palate, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
King-Denborough Syndrome |
|
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, ... |
OMIM:619542 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Absent... |
ORPHA:284169 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... |
OMIM:615279 |
Meckel Syndrome 14 |
|
Polycystic kidney dysplasia, Single ventricle |
OMIM:619879 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... |
OMIM:258900 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Type I diabe... |
ORPHA:290 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Thick lower ... |
ORPHA:1692 |
Char Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti... |
ORPHA:46627 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Thick... |
OMIM:619103 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the proximal ... |
OMIM:300166 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Secundum atrial septal defect, Dental malocc... |
OMIM:249420 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Congenital diap... |
ORPHA:261344 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great a... |
OMIM:619995 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... |
ORPHA:436252 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... |
ORPHA:2847 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Thin upper lip vermilion, Ventricular septal defec... |
OMIM:616651 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Downturned... |
ORPHA:1780 |
Faciocardiorenal Syndrome |
|
Cleft palate, Horseshoe kidney, Endocardial fibroelastosis, Hypodontia, Tricuspid valve prolapse,... |
ORPHA:1973 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart |
ORPHA:2772 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... |
OMIM:265380 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Ectopic kidney, Cleft palate, Abnormal heart morphology, Small thenar eminence, ... |
OMIM:239800 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal diabetes, Cleft... |
ORPHA:563609 |
Arima Syndrome |
|
Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Wide mouth, Hematuria, R... |
OMIM:243910 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney d... |
ORPHA:2461 |
Fraser Syndrome 2 |
|
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... |
OMIM:617666 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Short philtrum, Camptodactyly, A... |
OMIM:301039 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Mo... |
OMIM:613309 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Biliary hyperplasia, Contracture of the distal interphalangeal joint of... |
ORPHA:83617 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec... |
ORPHA:3282 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cleft lip, Cryptorchidism, Cleft palate, Pulmonic stenosis, ... |
OMIM:619123 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Cleft palate, Narrow mouth |
ORPHA:93946 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Cryptorchid... |
ORPHA:452 |
Emanuel Syndrome |
|
Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, High palate, Atria... |
ORPHA:96170 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Intestinal malrotation, Abnormal... |
ORPHA:2712 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Proteinuria, Nephrogenic diabetes insipidus, Nephropathy, Nephrocalcin... |
OMIM:613404 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Ventricular septal defect, Cleft soft palate, Ectopic kidney, Carious teeth, Cleft... |
OMIM:117650 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Dental crowding, Congenital diaphragmatic hernia, Intestinal malrotati... |
OMIM:617602 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Hypospadias, Cleft upper lip, Conical tooth,... |
OMIM:106260 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Diastema, Cryptorchid... |
ORPHA:329224 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft palate, Renal cyst, Intracranial hem... |
OMIM:614424 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Leukocytosis,... |
ORPHA:2331 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Splenomegaly, Chronic kidney disease, Orofacial cleft, Nephronophthisis |
OMIM:615630 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Hyperechogenic kidneys, Intestinal malrotation, Polycystic kidney dyspl... |
OMIM:617866 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Dextrotransposition of... |
OMIM:618619 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Cryptorchidism, Muscula... |
OMIM:210710 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Pate... |
ORPHA:457193 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia |
ORPHA:2256 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Thin upper lip vermilion, Ventricular septal defect, High, narrow palate... |
ORPHA:435638 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Renal agenesis, Cleft upper lip, Adrenal hypoplasia, Com... |
OMIM:264480 |
Eec Syndrome |
|
Hypospadias, Abnormal dental enamel morphology, Decreased response to growth hormone stimulation ... |
ORPHA:1896 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia |
OMIM:181180 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Wide mouth, Widely-spaced incisors |
OMIM:617635 |
Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation |
ORPHA:3032 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Myopathy, Renal tubular acidos... |
OMIM:614922 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Ventricular septal defect, Congenital diaphragmatic hernia, Supernumera... |
OMIM:618454 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Bilateral cleft lip and palate, Thin vermilion border, High palate,... |
OMIM:618829 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr... |
ORPHA:887 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ... |
OMIM:617982 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cleft upper lip, Rectourethral ... |
OMIM:300000 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Cleft upper lip, Cryp... |
OMIM:244300 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Protruding tongue, Cryptorchidism, Conotruncal defect, ... |
ORPHA:96147 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Cr... |
OMIM:300963 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Cryptorchidism,... |
ORPHA:500159 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphan... |
OMIM:235255 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Nephrogenic diabetes insipidus, Nephropathy, Nephrocalcinosis, Renal t... |
OMIM:208085 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Deep... |
ORPHA:404440 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Wide mouth, Macroglossia, Short philtrum, Lo... |
OMIM:615668 |
Kury-Isidor Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, High palate, Widely spaced teeth, Long phi... |
OMIM:619762 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Esophageal varix, ... |
OMIM:216360 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Renal agenesis, Congenital diaphragmatic hernia, Elbow flexion contracture, Abnorm... |
OMIM:200980 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Ca... |
ORPHA:99776 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Ventricular septal defect, Proteinuria, Unilateral renal age... |
ORPHA:411709 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Right ve... |
OMIM:619472 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Renal agenesis, Aplastic anemia, Hypergonadotropic hypogonadism, Esoph... |
OMIM:300514 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Tented upper lip vermilion, Renal agenesis, Maternal diabetes, Panhypopituit... |
ORPHA:280200 |
Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Hypog... |
OMIM:615994 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Vesicoureteral reflux, Cleft palate, Atrial septal defect, Patent fora... |
OMIM:614261 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Lambotte Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:245552 |
Aminopterin/Methotrexate Embryofetopathy |
|
Ventricular septal defect, Situs inversus totalis, Non-midline cleft lip, Cleft palate, Pulmonary... |
ORPHA:1908 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:615355 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horse... |
ORPHA:166035 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Deep philtrum, Patent ductus arteriosus, R... |
OMIM:617260 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect, Hypothyroidism |
OMIM:619908 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Horseshoe kidney, Duplication... |
DECIPHER:81 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, High, narrow palate, Cleft lip, Thick lower l... |
OMIM:616920 |
Diaphanospondylodysostosis |
|
Multiple renal cysts, Cleft palate |
ORPHA:66637 |
Meckel Syndrome, Type 5 |
|
Renal cyst, Bile duct proliferation, Cleft palate, Cleft upper lip |
OMIM:611561 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Downturned corners of mouth, Ventricular septal defect, Short philtrum |
ORPHA:93267 |
Brachydactyly, Type B1 |
|
Ventricular septal defect, Delayed eruption of permanent teeth, Camptodactyly, Micropenis, Joint ... |
OMIM:113000 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... |
ORPHA:2255 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Vesico... |
OMIM:235510 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Ab... |
ORPHA:1507 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Congenital diaph... |
OMIM:612530 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Downturned corners of mouth... |
ORPHA:369891 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic... |
OMIM:617450 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Ventricular septal defect, Unilateral renal agenesis, Splenomegaly, Patent ductus a... |
OMIM:614576 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Biliary hyperplasia, H... |
ORPHA:731 |
Carpenter Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Persistence of primary teeth, Precocious puberty, Cryptor... |
OMIM:201000 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypothyroidism,... |
OMIM:609053 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Cutaneous leiomyosarcoma, Renal cyst, Renal cell carcinoma, Colon cancer, Large i... |
OMIM:135150 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Primary hyperaldosteronism... |
OMIM:615474 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Thick lower lip vermi... |
OMIM:618027 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, Nephrocalcinosis, Widel... |
ORPHA:79500 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Epispadias, Conical incisor, Atrial septal defect, Microdontia, ... |
ORPHA:289 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Decreased response to growth hormone stimulation test, Ascending aorta hypoplasi... |
OMIM:619503 |
Roberts Syndrome |
|
Progressive flexion contractures, Cleft upper lip, Cryptorchidism, Long penis, Cleft palate, Knee... |
ORPHA:3103 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea, Hyper... |
OMIM:602579 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Deep philtrum, V... |
OMIM:615879 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Macroorchidism, Ventricular septal defect, Dental crowding, Deep philtr... |
OMIM:309520 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality... |
ORPHA:1834 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... |
OMIM:603554 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Robinow Syndrome |
|
Dental crowding, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Webbed penis, Mi... |
ORPHA:97360 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Ventricular septal defect, Hypoplastic right heart, Cleft lip, Patent ductus arteriosus, Cryptorc... |
OMIM:616894 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, High, narrow palate, Renal cyst, Downturned corn... |
OMIM:122470 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria, B... |
ORPHA:445038 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Elbo... |
OMIM:121050 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Chime Syndrome |
|
Ventricular septal defect, Abnormal dental morphology, Abnormality of the kidney, Abnormality of ... |
ORPHA:3474 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Renal cyst, Cleft palate, Camptodactyly, Micropenis, Bifid uvula |
OMIM:614175 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate |
ORPHA:52055 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect, Proteinuria, Hematuria, Tubulointerstitial nephritis |
OMIM:616901 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Dental crowding, Cleft upper lip, Patent d... |
OMIM:612582 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Pancreatic lymphangiectasis, Cryptorchidism,... |
ORPHA:1655 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, High, narrow palate, Narrow mouth, Cleft palate, Ho... |
OMIM:272950 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Maternal diabetes, Rectal fistula... |
ORPHA:49 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Esophageal atresia, Patent ductus ar... |
ORPHA:77298 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Wiskott-Aldrich Syndrome |
|
Glomerulopathy, Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytop... |
ORPHA:906 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Embryonal rhabdomyosar... |
OMIM:257300 |
Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomegaly, Rhabdomyol... |
OMIM:614921 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Transient neutropenia, Ventricular septal defect, Renal cyst, Mitral valve pro... |
OMIM:617107 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, High palate, Vesicoureteral reflux, Atrial septal defect, Patent... |
ORPHA:2745 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal... |
ORPHA:2538 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Cl... |
ORPHA:261197 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Cryptorchidism, Dental malocclusion, Wide mouth,... |
OMIM:610733 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Tented upper lip vermilion, Exaggerated cupid's bow, Precocious puberty, High... |
ORPHA:369837 |
Chromosome 18Q Deletion Syndrome |
|
U-Shaped upper lip vermilion, Thin upper lip vermilion, Absence of the pulmonary valve, Ventricul... |
OMIM:601808 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Malabsorption, Pyloric sten... |
ORPHA:912 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Hypospadias, Bicuspid aortic valve, Patent ductus arteriosus, Open mouth |
OMIM:617751 |
Kleefstra Syndrome 1 |
|
Natal tooth, Hypospadias, Protruding tongue, Persistence of primary teeth, Cryptorchidism, Abnorm... |
OMIM:610253 |
Chops Syndrome |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Cryptorchidism, Splenom... |
OMIM:616368 |
Lymphatic Malformation 5 |
|
Hypoplasia of lymphatic vessels, Cleft palate |
OMIM:153200 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Polycystic kidney dyspl... |
OMIM:236700 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Flexion contracture, Cleft palate, Micropen... |
OMIM:616897 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Proteinuria |
ORPHA:2143 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, Hydrocele test... |
OMIM:145420 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Hypothyroidism, Cryptorchidism, Vesicoureteral ... |
ORPHA:453499 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Hypospadias, Cleft palate, Furrowed tongue... |
OMIM:616449 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Cleft upper... |
OMIM:610443 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Vascular ring, Knee flexion contracture, Atri... |
OMIM:603387 |
Caroli Disease |
|
Splenomegaly, Leukocytosis, Esophageal varix, Polycystic kidney dysplasia, Cholelithiasis |
ORPHA:53035 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Mosaic Trisomy 16 |
|
Single coronary artery origin, Ventricular septal defect, Hypospadias, Maternal diabetes, Patent ... |
ORPHA:1708 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Patent ductus arteriosus after premature birth,... |
OMIM:618460 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Pate... |
OMIM:605275 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Congen... |
ORPHA:2519 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Scapular winging, Ventricular septal defect, Dental crowding, Patent du... |
OMIM:617061 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... |
OMIM:618748 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Ankle flexion contracture, Cleft upper ... |
OMIM:268300 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Cleft ... |
ORPHA:107 |
Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Ectopic pancreatic tissue, Renal cyst, Atrial s... |
OMIM:229850 |
Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Cleft palate, Horseshoe kidney, Abnormal cardiac septum morphology, Ax... |
ORPHA:3320 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Dextrocardia, Precocious puberty, High, narrow palate, Cryptorchidism,... |
ORPHA:96092 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Cryptorchidism, Cleft palate, Skeletal muscle hypertrophy, High palate... |
OMIM:617164 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... |
ORPHA:2876 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Hypospadias, Carious teeth, Cryptorchidism, Thin vermili... |
ORPHA:96097 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Nephrolithiasis, Abnorma... |
ORPHA:369929 |
Cystic Echinococcosis |
|
Eosinophilia, Abnormality of the testis size, Renal cyst, Abnormal heart morphology, Ovarian cyst... |
ORPHA:400 |
Codas Syndrome |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Ventricular septal defect, Ab... |
ORPHA:1458 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Dent... |
OMIM:130720 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Unilateral cryptorchidism, Precocious puberty, Cleft palate, Thick ver... |
ORPHA:447980 |
Hardikar Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Cleft soft ... |
OMIM:301068 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Diastasis recti, Splenomegaly, Patent ductus arteriosus, Flexion contr... |
OMIM:608149 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Thick vermilion border, Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Cleft palate, Thin ve... |
ORPHA:254346 |
Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... |
ORPHA:1425 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... |
OMIM:618775 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular sep... |
ORPHA:457279 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Flexion contracture, High pa... |
OMIM:617452 |
Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Abnormality of the dentition, Crypt... |
ORPHA:3071 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia |
OMIM:619909 |
Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Abnormality of the endocrine system, Esophageal atresia, Ventral... |
ORPHA:95706 |
Loeys-Dietz Syndrome 5 |
|
Scapular winging, Decreased muscle mass, Ventricular septal defect, Tented upper lip vermilion, C... |
OMIM:615582 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abno... |
ORPHA:464329 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv... |
OMIM:616564 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose vein... |
OMIM:153400 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Camptodactyly of fi... |
ORPHA:261236 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Neoplasm of the heart, Cryptor... |
ORPHA:2241 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchid... |
OMIM:300712 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Pel... |
OMIM:613001 |
Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Diabetes mellitus, Ventricular septal defect, Narrow mouth, Increased c... |
OMIM:270450 |
Caroli Syndrome |
|
Abnormality of the kidney, Hypersplenism, Leukocytosis, Esophageal varix, Leukopenia, Polycystic ... |
ORPHA:480520 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Deep philtrum, Non-midline cleft lip, Orofacial cle... |
ORPHA:1297 |
C Syndrome |
|
Ventricular septal defect, Accessory oral frenulum, Cryptorchidism, Patent ductus arteriosus, Ren... |
OMIM:211750 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Cryptorc... |
OMIM:610759 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Precocious puberty, Gingival fibromatosis, Renal cyst, Cardiac rhabdomyoma, R... |
OMIM:191100 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anu... |
ORPHA:251038 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Nephroblastoma, Ventricular septal defect |
OMIM:610832 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Fasting hyperinsulinemia, Nephrocalcinosis, High palate, Atrial septal defect, A... |
ORPHA:769 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutrop... |
ORPHA:124 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Thin vermilion border, Facial hypotonia, Long philtrum |
ORPHA:85194 |
Ogden Syndrome |
|
Torticollis, Everted upper lip vermilion, Ventricular septal defect, High, narrow palate, Pulmona... |
ORPHA:276432 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Anal stenosis, Multicystic kidney dysplasia, Ventricular septal defect, Facial palsy... |
OMIM:300373 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum... |
ORPHA:1071 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Abnormal heart morphology |
ORPHA:254534 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Cryptorchidism, Knee fl... |
ORPHA:85201 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Thin upper lip vermilion, Contracture of the proximal interphalangeal joint of the 2nd finger, Ve... |
OMIM:300998 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Limb joint contracture, Ventricular septal defect, Cryptorchidism, High... |
ORPHA:505237 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cleft palate, Glossoptosis, Short hard p... |
ORPHA:1393 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormality of the kidney, Abnormal stomach morphology, Ascending aort... |
ORPHA:141127 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Hypospadias, High... |
ORPHA:464738 |
Filippi Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Thin vermilion border, Short phi... |
ORPHA:3255 |
Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of to... |
OMIM:269860 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cleft upper lip, Renal cyst, Cleft palate, Horseshoe kidney, Aplasia of the b... |
OMIM:612284 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Anal stenosis, Ventricular septal defect, Facial palsy, Aganglionic megacolon,... |
OMIM:607323 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thin upper lip vermilion, Pericarditis, Villous atrophy, Proteinuria, Hypergonadotropic hypogonad... |
OMIM:212065 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio... |
OMIM:300967 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchid... |
ORPHA:163979 |
Meckel Syndrome, Type 2 |
|
Renal cyst, Bile duct proliferation, Intestinal malrotation, Cleft palate |
OMIM:603194 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Thrombocytopenia, Dilated cardiomyopathy, Wide mouth, ... |
ORPHA:261250 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Patent ductus arteriosus, Cryptorchidism, Renal hypo... |
OMIM:616300 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Narrow mouth, Downtu... |
OMIM:617360 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Oral ulcer, Lymph... |
OMIM:602450 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Hypospadias, Ankle flexion contracture, Unilateral renal agenesis, Cry... |
ORPHA:464311 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Open bite, Venous insufficiency, Abnormality of the parathyroid gland, Spleno... |
ORPHA:2969 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ... |
OMIM:605039 |
Alagille Syndrome |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, N... |
ORPHA:52 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Wide mouth, Thin ve... |
ORPHA:217346 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Diastasis recti... |
ORPHA:2092 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, High palate, Bifid... |
OMIM:300472 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Ventricular septal defect, Patent ductus arteriosus, Long philtrum, Atrial sept... |
OMIM:618870 |
Peutz-Jeghers Syndrome |
|
Intestinal obstruction, Pancreatic adenocarcinoma, Esophageal neoplasm, Enlarged polycystic ovari... |
ORPHA:2869 |
Myopathy With Extrapyramidal Signs |
|
Tented upper lip vermilion, Ventricular septal defect, Splenomegaly, Leukocytosis, Calf muscle hy... |
OMIM:615673 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Situs in... |
ORPHA:991 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Precocious puberty, High, n... |
OMIM:619312 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... |
ORPHA:97362 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragma... |
ORPHA:1488 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Hypospadias, Cleft lip, Patent ductus arteriosus, Cryptorchidism, Rena... |
OMIM:616975 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, High palate, Thick vermilion border, Pulmona... |
OMIM:620113 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Ventricular septal defect, Dental crowding, Abnormality of t... |
ORPHA:251028 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Multicystic kidney dysplasia, Rhabdomyosarcoma, Cleft palate, Coarctation o... |
ORPHA:1052 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Tracheoesophageal fis... |
ORPHA:268249 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Arthrogryposis multiplex congenita, Renal dysplasia |
OMIM:236500 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Supernumerary nipple, Pyloric sten... |
ORPHA:1001 |
3Mc Syndrome 1 |
|
Dental crowding, Ventricular septal defect, Diastasis recti, Cleft upper lip, Supernumerary nippl... |
OMIM:257920 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... |
ORPHA:500095 |
Sotos Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, High, narrow palate, Muscular ventricular s... |
OMIM:117550 |
Axial Osteomalacia |
|
Myopathy, Renal cyst |
OMIM:109130 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Exaggerated median tongue furr... |
OMIM:312870 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera... |
OMIM:608670 |
Distal Deletion 19P |
|
Ventricular septal defect, Cleft palate, Short philtrum, Tricuspid valve prolapse, Pulmonary valv... |
ORPHA:96129 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Ventricular septal defect, Crypto... |
OMIM:617506 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Splenome... |
OMIM:222470 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Ventricular septal defect, Camptoda... |
ORPHA:261330 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia, Bile duct proliferation, Cleft palate |
OMIM:607361 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Precocious puberty, Gingival fibromatosis, Ren... |
OMIM:613254 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Patent ductus arteriosus, Orofacial cl... |
ORPHA:1519 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Ventricular septal defect, Abnormal medullary pyramid morphology |
ORPHA:79243 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, A... |
ORPHA:464306 |
Trisomy 20P |
|
Macroorchidism, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Abnormality of t... |
ORPHA:261318 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Foot joint contracture, Cryptorchidism, Dental malocclusion, Alveolar ... |
ORPHA:444072 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Pyloric stenosis, Crypto... |
ORPHA:3138 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upper lip, Pulmonar... |
OMIM:100300 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Renal agenesis, Hypergonad... |
OMIM:227645 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Median cleft lip, Renal insufficiency, Abnormal dental enamel morph... |
ORPHA:2750 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... |
OMIM:164280 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Hypospad... |
ORPHA:209905 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Esophageal atresia, Deep philtrum, Cleft palate, Atrial septal defect |
OMIM:610536 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Splenomegaly, Patent ductus arteriosus, Cleft palate, Renal cyst, Broad phil... |
OMIM:613610 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Vesicoureteral... |
ORPHA:494344 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, High, narrow palate, ... |
ORPHA:373 |
Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Tented upper lip vermilion, Patent... |
OMIM:614961 |
Seckel Syndrome 9 |
|
Recurrent urinary tract infections, Ventricular septal defect, Congenital diaphragmatic hernia, P... |
OMIM:616777 |
Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Eosinophilia, Pancreatic cysts, Abnormal bladder morphology, Ren... |
ORPHA:284 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Prominent scalp veins, Hypospadias, Secundum atrial septa... |
OMIM:264090 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, F... |
OMIM:619306 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Aplas... |
ORPHA:354 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology |
ORPHA:1782 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... |
ORPHA:352665 |
Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Abnormality of the ur... |
ORPHA:2438 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... |
ORPHA:95430 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... |
OMIM:617100 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Subvalvular aor... |
OMIM:614114 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Bilateral cr... |
OMIM:613457 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct... |
ORPHA:980 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve... |
OMIM:118450 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Pulmonary artery sling, Narro... |
OMIM:619268 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Renal cyst, Atrial septal defect, Micropenis, Bifid uvula, Penoscrotal hypospadi... |
OMIM:270400 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Vesicoureteral reflux, Contractures of the large joints, Ventricular septal defect |
ORPHA:3078 |
Vater/Vacterl Association |
|
Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Esophage... |
OMIM:192350 |
Homozygous Familial Hypercholesterolemia |
|
Premature arteriosclerosis, Precocious atherosclerosis, Abnormal internal carotid artery morpholo... |
ORPHA:391665 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Dental malocclusion, High palate, Narr... |
ORPHA:2115 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Erosion of oral mucosa, Multicystic kidney dysp... |
ORPHA:79404 |
Esophageal Atresia |
|
Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Renal agenesis, Maternal di... |
ORPHA:1199 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anal stenosis, Ventricular septal defect, Hypospadias, Complete atrioventricu... |
OMIM:617063 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Tetrasomy 9P |
|
Myositis, Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Micropenis, ... |
ORPHA:3310 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... |
OMIM:609192 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Neutropenia, Hypothyroidism, H... |
ORPHA:699 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Intestinal malrotation, Pyloric stenosis... |
ORPHA:2308 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, Renal cyst |
OMIM:605231 |
X Small Rings |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Ao... |
ORPHA:96201 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Vesicoureteral reflux, Axial malrotation of the kidney, Atrial septal defec... |
OMIM:274000 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Wide mouth, Micropenis, Hydron... |
OMIM:617798 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cryp... |
ORPHA:1465 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormality of the kidney, Cleft lip, Cryptorchidism, Dysplastic tricu... |
ORPHA:1724 |
Cohen Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the dent... |
ORPHA:193 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Ventricular septal defect, Camptodactyly of finger, Thyro... |
ORPHA:3047 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
OMIM:609942 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplas... |
OMIM:208900 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Long philtrum |
OMIM:617895 |
Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Hypospadias, Phimosis, Situs in... |
OMIM:309500 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mo... |
OMIM:212066 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Mitral stenosis, Intestinal malrotation, Abnormality of the dentition,... |
ORPHA:955 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ventricular septal defect, Hypospadias, Adrenal hypoplasia, Protruding tongue, High, narrow palat... |
OMIM:214100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Myocardial fibrosis, Calf m... |
OMIM:253800 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Congenital hyp... |
OMIM:105650 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno... |
ORPHA:2973 |
Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Pancreatic cysts, Cleft palate, Multiple renal cysts, Abnormal inte... |
ORPHA:1318 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Maternal diabetes, Cryptorchidism, Renal hypoplasia, Thin vermilion bo... |
ORPHA:3404 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Cleft palate, Stroke-lik... |
ORPHA:137675 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Atrial septal defect, Advanced eruption of ... |
ORPHA:818 |
Holoprosencephaly |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Deep philtrum, P... |
ORPHA:2162 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Cleft p... |
OMIM:178110 |
Alg9-Cdg |
|
Villous atrophy, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology... |
ORPHA:79328 |
Monosomy 22 |
|
Aplasia of the thymus, Hypochromic microcytic anemia, Micropenis, Hepatosplenomegaly, Contracture... |
ORPHA:96123 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul... |
OMIM:610978 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Dental crowding, High, narrow palate, Cryptorchidism, High palate, Smo... |
ORPHA:2789 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Hypothyroidism, Abnormality of the an... |
ORPHA:1606 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia... |
OMIM:618846 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Short lingual frenulum, Congenital diaphragm... |
ORPHA:96121 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Decreased muscle mass, Ventricular septal defect, Cryptorchidism, Smal... |
ORPHA:2962 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephr... |
ORPHA:110 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper... |
ORPHA:2729 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious... |
ORPHA:96191 |
Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Orofacial cleft, Arter... |
ORPHA:1556 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Facial palsy, Thyroi... |
OMIM:620186 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Proteinuria, ... |
OMIM:222448 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, C... |
OMIM:620024 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Diastema, Carious te... |
OMIM:244450 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality ... |
ORPHA:3380 |
Mody |
|
Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... |
ORPHA:42775 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Fetal megacystis, Lo... |
ORPHA:73246 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Micropenis, Ventricular septal defect |
OMIM:620073 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Vesicoureteral reflux, Atrial septal defect, Hypospadias,... |
ORPHA:353281 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ventricle, Thin vermilion bord... |
OMIM:619869 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Tooth malposition, Narrow palate, Pulmonic s... |
OMIM:277600 |
Trisomy 10P |
|
Absent gallbladder, Decreased muscle mass, Abnormality of the kidney, Orofacial cleft, Abnormal h... |
ORPHA:171929 |
Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect, Dental crowding, Splenomegaly, Patent ductus arteriosus, Downturned co... |
OMIM:618268 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Cleft palate, Horseshoe kidney, Cystic renal dysplasia, En... |
OMIM:608022 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Oligodontia, Thick vermilion border, Short phil... |
OMIM:609460 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Neurogenic bladder, Tented upper lip vermilion, Ventricular septal defec... |
ORPHA:488632 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... |
OMIM:142900 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Vesicoureter... |
ORPHA:116 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Pulmonary artery st... |
OMIM:301030 |
Distal 22Q11.2 Microduplication Syndrome |
|
Anal atresia, Ventricular septal defect, Camptodactyly of finger, Unilateral renal agenesis, Cryp... |
ORPHA:261337 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Peptic ulcer, Testicular neoplas... |
ORPHA:99880 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Ventricular septal defect, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Epis... |
OMIM:615948 |
2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Multicystic kidney dysplasia, Camptodactyly of finger, Facial palsy, S... |
ORPHA:261349 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D... |
ORPHA:93111 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Peters Plus Syndrome |
|
Ureteral duplication, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Widely spaced... |
ORPHA:709 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical cytomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Adrenocortical carcinom... |
OMIM:130650 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Renal dysplasia, Ureteral duplication, Accessory oral frenulum, Pancreatic cysts, Stage 5 chronic... |
OMIM:266920 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Sh... |
ORPHA:466791 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcin... |
ORPHA:534 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Cryptorchidism, Aortopulmonary win... |
OMIM:620025 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, Dilated cardiom... |
ORPHA:26793 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Deep philtrum, Cleft palate, ... |
ORPHA:251014 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Peptic ulcer, Testicular neoplas... |
ORPHA:143 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasi... |
ORPHA:564 |
Schinzel-Giedion Syndrome |
|
Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Short philtrum, High palate, Myel... |
ORPHA:798 |
Zttk Syndrome |
|
Absent gallbladder, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Abnormality o... |
OMIM:617140 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Vesicoureteral reflux, Atrial septal... |
ORPHA:857 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Extramedullary hematopoiesis, Renal cyst, Steatorrhea, Fat malabsorption |
ORPHA:79303 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dental malocclusion, Mitral valve prolapse, Taurodonti... |
OMIM:616202 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Hypoplasia of teeth |
OMIM:234050 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Carious teeth, Scapular winging, Dental malocclusion, Renal cyst |
OMIM:615560 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Dental cro... |
ORPHA:79329 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Aganglionic megacolon, Congenital diaphragmatic hernia, Cleft upper li... |
OMIM:154400 |
Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Facial hypotonia, Ventricular septal defect... |
OMIM:613458 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Deep p... |
OMIM:613884 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Elbow flexion contracture, Tooth malposition... |
OMIM:608328 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High palate, Atrial septal defect... |
OMIM:619488 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Median cleft lip, Ventricular septal defect, Abnormal dental enamel morpholog... |
ORPHA:2710 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Hemolytic anemia, Anal stenosis, Crossed fused renal ectopia,... |
OMIM:147920 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Recurrent urinary tract infections, Ventricular s... |
OMIM:619229 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy... |
OMIM:163950 |
Myhre Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Pericardial effusion, Cleft lip, Narrow mout... |
OMIM:139210 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Chylopericardium, Ly... |
ORPHA:538 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial dissection, Camptodactyly of finger, Arterial tortuosity, Dilatation of the sinus of Val... |
ORPHA:284984 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Lacticaciduria, ... |
ORPHA:506 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Down... |
ORPHA:3015 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Congenital... |
OMIM:301044 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Bilateral cryptorchidism... |
ORPHA:434179 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Decreased response to growth ho... |
ORPHA:444077 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Multicystic kidney dysplasia, Hy... |
OMIM:107480 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:18 |
D-Bifunctional Protein Deficiency |
|
Decreased muscle mass, Splenomegaly, Primary adrenal insufficiency, Renal cyst, Bile duct prolife... |
OMIM:261515 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Long philtrum |
OMIM:123700 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Early onset of sex... |
OMIM:194050 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Proteinuria, Hypoplastic philtrum, Hiatus hern... |
OMIM:616682 |
8Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ectopic posterior pituitary, Ventricular septal defect, Abnormality of ... |
ORPHA:508488 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hypoplasia of facial musculature, Renal ... |
OMIM:164210 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Orofacial cleft, Narrow mouth, Anal atresia |
ORPHA:3301 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Conical tooth, Ectopic kidney, Short philtrum, High palate, Atri... |
OMIM:135900 |
Constricting Bands, Congenital |
|
Ectopia cordis, Bladder exstrophy, Cleft palate, Cleft upper lip |
OMIM:217100 |
Larsen Syndrome |
|
Ventricular septal defect, Cleft upper lip, Cryptorchidism, Cleft palate, Hypodontia, Atrial sept... |
OMIM:150250 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Micropenis, At... |
ORPHA:672 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, High, narrow palate, Renal tubular acidosis, Short philtrum, Periphera... |
OMIM:619575 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Hypospadias, Abnorma... |
OMIM:235730 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellitus, Renal hypoplasia/aplasia, C... |
ORPHA:261265 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Ventricular septal defect, Splenomegaly, Lymphadenopathy, High palate, Polysple... |
OMIM:619418 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B ly... |
OMIM:102700 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
Atelosteogenesis Type I |
|
Malrotation of colon, Abnormal pancreatic duct morphology, Multiple renal cysts, Cleft palate |
ORPHA:1190 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Multiple renal cysts, R... |
OMIM:618733 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Flexio... |
ORPHA:2152 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Flexio... |
ORPHA:261537 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Hypospadias, Anterior pituitary hypoplasia, Hypogonadotropic hypogonad... |
OMIM:206900 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, High palate, Vesicoureteral reflux, Atrial septal defect,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, High palate, Vesicoureteral reflux, Atrial septal defect,... |
ORPHA:353277 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
High palate, Open mouth, Flexion contracture, Ventricular septal defect |
OMIM:614653 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital con... |
OMIM:619036 |
Restrictive Dermopathy |
|
Natal tooth, Ureteral duplication, Multiple joint contractures, Hypospadias, Dextrocardia, Campto... |
ORPHA:1662 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Decreased testicular size, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Narr... |
ORPHA:459070 |
Joubert Syndrome 2 |
|
Renal insufficiency, High palate, Renal cyst, Nephronophthisis |
OMIM:608091 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Ventricular septal defect, Cryptorchidism, High palate, Pulmonic st... |
OMIM:607721 |
Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Orofacial cleft, Nephropathy, Ab... |
ORPHA:1454 |
Codas Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Cryptorchidism, Rectovaginal fistula, Atria... |
OMIM:600373 |
Joubert Syndrome 1 |
|
Protruding tongue, Renal cyst, Macroglossia, Triangular-shaped open mouth, Nephropathy |
OMIM:213300 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Premature loss of primary teeth, Cardiomegaly, Abnormalit... |
ORPHA:3472 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Renal agenesis, Swollen lip, Cleft upper lip, Cryptorchidism, Patent d... |
OMIM:256520 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ... |
ORPHA:268261 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect |
OMIM:615503 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hematuria, Micro... |
OMIM:619525 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Orofacial cleft, High palate, Atrial septal defect, Patent... |
OMIM:607872 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Dental crowding, Urinary incontinence, Cleft hard palate, Asplenia, Flexio... |
ORPHA:261552 |
Limb Body Wall Complex |
|
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormality of the k... |
ORPHA:2369 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hypospadias, Pyloric stenosis, Cryptorchidism, Flexion contracture, An... |
OMIM:147791 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Abnormality of the gingiva, Absent cupid'... |
ORPHA:513456 |
C Syndrome |
|
Multicystic kidney dysplasia, Accessory oral frenulum, Congenital diaphragmatic hernia, Renal hyp... |
ORPHA:1308 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Ventricular septal defect, Hypospadias, Complete atrioventric... |
OMIM:236680 |
Carpenter Syndrome 2 |
|
Dextrocardia, Supernumerary nipple, Situs inversus totalis, High, narrow palate, Carious teeth, P... |
OMIM:614976 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo... |
ORPHA:363700 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Downturned corners of mouth, Widely spaced ... |
ORPHA:199 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,... |
OMIM:619522 |
Arboleda-Tham Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Ventricular septal defect, Intestin... |
OMIM:616268 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Pancreatic fibrosis, Hypoplasia of the small intestine, Polysplenia, Cystic re... |
OMIM:200995 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79345 |
Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Ventricular septal defect, Short mandibular rami, Bilateral crypto... |
OMIM:602535 |
Proboscis Lateralis |
|
Ventricular septal defect, Unilateral renal agenesis, Agenesis of canine, Patent ductus arteriosu... |
ORPHA:141099 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious... |
ORPHA:438213 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Precocious puberty, Cleft palate, Ureterocele, Micropenis, Renal dyspl... |
ORPHA:1934 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia |
OMIM:615989 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Pancreatic fibrosis, Pancreatic cysts, Chronic kidney disease, ... |
OMIM:208500 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Multicystic kidney dysplasia, Ventricu... |
OMIM:606170 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Carious teeth, High, narrow palate, Crypt... |
ORPHA:33364 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Pheochrom... |
OMIM:193300 |
Costello Syndrome |
|
Renal insufficiency, Ventricular septal defect, Rhabdomyosarcoma, Pyloric stenosis, Achilles tend... |
OMIM:218040 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Increased mean corpuscular volume, Increased proportion of gamma-de... |
OMIM:619774 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Eisenmenger Syndrome |
|
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic ... |
ORPHA:97214 |
Proteus Syndrome |
|
Decreased muscle mass, Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm... |
ORPHA:744 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Anteriorly placed anus, Conic... |
OMIM:261540 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
Spondylocarpotarsal Synostosis Syndrome |
|
Scapular winging, Renal cyst, Cleft palate, Failure of eruption of permanent teeth, Enamel hypopl... |
OMIM:272460 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Decreased muscle mass, Ventricular septal defect, Hypospadias, Cleft upper lip,... |
OMIM:194190 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Delayed eruption of teeth, Mitral stenosis, Ventricular septal defect, T... |
OMIM:143095 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Cleft palate, High palate,... |
OMIM:271640 |
Omodysplasia 1 |
|
Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Long philtrum, Atrial septa... |
OMIM:258315 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e... |
OMIM:619991 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Downturned corners of mouth, Atrial septal defect, Hypoplasia of the prim... |
OMIM:243800 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Flexion contracture, Renal cyst, Ant... |
OMIM:601803 |
Sotos Syndrome |
|
Ureteral duplication, No permanent dentition, Flexion contracture, Vesicoureteral reflux, Atrial ... |
ORPHA:821 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Hypospad... |
OMIM:619475 |
Ulnar-Mammary Syndrome |
|
Anal stenosis, Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypopla... |
OMIM:181450 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Ventricular septal defect, Interphalangeal joint contracture of finge... |
ORPHA:96334 |
Keutel Syndrome |
|
Ventricular septal defect, Deep philtrum, Pulmonary artery hypoplasia, Pulmonic stenosis, Periphe... |
OMIM:245150 |
Fraser Syndrome |
|
Anal stenosis, Hypoplasia of penis, Dental crowding, Multicystic kidney dysplasia, Hypospadias, C... |
ORPHA:2052 |
Craniotubular Dysplasia, Ikegawa Type |
|
Thick upper lip vermilion, Thick lower lip vermilion, Ventricular septal defect, Long philtrum |
OMIM:619727 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
Branchiooculofacial Syndrome |
|
Hypospadias, Facial palsy, Renal agenesis, Cleft upper lip, Malrotation of colon, Abnormality of ... |
OMIM:113620 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cleft upper lip, Esophageal atresia, Cryptorchidism,... |
ORPHA:93271 |
Joubert Syndrome 21 |
|
Splenomegaly, Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Tented philtrum, Renal cyst, Anteriorly placed anus, Long philtrum, ... |
ORPHA:495875 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral renal agenesis, Rena... |
OMIM:308205 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Ventricular septal defect, Hydronephrosis, High palate, Long philtrum, ... |
OMIM:620330 |
Yunis-Varon Syndrome |
|
Thin upper lip vermilion, Absent nipple, Ventricular septal defect, Hypospadias, Premature loss o... |
OMIM:216340 |
Pmm2-Cdg |
|
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Intr... |
ORPHA:79318 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Multicystic kidney dysplasia, Muscular dystrophy, Micropenis, Hydronep... |
OMIM:615287 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |