| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... |
OMIM:208530 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ... |
OMIM:618845 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:270100 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Renal agenesis, Stillbirth, Abnormality of the vertebral column, Abnormal heart morphology, Abnor... |
ORPHA:294975 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Persist... |
ORPHA:1209 |
| Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis |
OMIM:616566 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Hypoplastic left heart, Narr... |
OMIM:617661 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
OMIM:617805 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
| Nephronophthisis 16 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... |
OMIM:615382 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... |
OMIM:605376 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Block vertebrae, Aplasia of posterior communicating artery, Short th... |
OMIM:613686 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... |
OMIM:618061 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... |
OMIM:616749 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... |
OMIM:314390 |
| 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 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnorma... |
ORPHA:1354 |
| Poland Syndrome |
|
Short ribs, Rib fusion, Sprengel anomaly, Hemivertebrae, Dextrocardia |
OMIM:173800 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Renal hypoplasia, Renal insufficiency, Partial atrioventricular canal def... |
OMIM:615996 |
| Meacham Syndrome |
|
Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Dextrocar... |
OMIM:608978 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Situs inversus totalis, Dextrocardia, Cervical ribs |
ORPHA:66630 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
| Diabetic Embryopathy |
|
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... |
ORPHA:1926 |
| Dextrocardia |
|
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal rib morphology, Abnormal lung lob... |
ORPHA:1666 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... |
ORPHA:261243 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Horseshoe kidney, Tetralog... |
ORPHA:3097 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the great arteries, Do... |
OMIM:231060 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
| Holzgreve Syndrome |
|
Hypoplastic left heart, Renal hypoplasia, Renal agenesis |
OMIM:236110 |
| Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Dextrocardia, Patent ... |
OMIM:618280 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... |
OMIM:613854 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... |
OMIM:619902 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| Primary Basilar Invagination |
|
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck |
ORPHA:2285 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Renal hypoplasia, Cutis marmorata, Portal hypertension, Splenomegaly, Ventricul... |
OMIM:616589 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Microphthalmia, Syndromic 9 |
|
Neonatal death, Ventricular septal defect, Atrial septal defect, Single ventricle, Hypoplastic sp... |
OMIM:601186 |
| Primary Ciliary Dyskinesia |
|
Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abno... |
ORPHA:244 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Ventricular septal defect, Atrial... |
OMIM:612946 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:2777 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... |
ORPHA:1913 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... |
OMIM:606217 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Interrupted aortic arch, Aplasia/Hypoplasia of the thymus, Tetralogy of F... |
ORPHA:1727 |
| Alagille Syndrome 2 |
|
Cholestatic liver disease, Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of F... |
OMIM:610205 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis... |
OMIM:615482 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
| Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... |
ORPHA:185 |
| Thoraco-Abdominal Enteric Duplication |
|
Missing ribs, Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Scoliosis, Abnormal form of the vertebral bodies, Short thorax, Abnormality of the ureter, Rib se... |
ORPHA:2311 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Patent foramen ovale, Ven... |
OMIM:618494 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
| Even-Plus Syndrome |
|
Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral reflux, Patent foramen ovale... |
OMIM:616854 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Unilateral renal agenesis, Narrow chest, Hepatic fibrosis, Hepatic failure, Nodular regenerative ... |
OMIM:620454 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Unilateral renal agenesis, Crossed fused renal ectopia, Ventricular septal defect, Atrial septal ... |
OMIM:618142 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Left superior vena cava draining directly to the left a... |
OMIM:619657 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae, Recurre... |
OMIM:608681 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... |
OMIM:620570 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Pectus carinatum, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great... |
OMIM:619910 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Multicystic kidney dysplasia, Abnormal heart morphology, Abnormal ... |
ORPHA:261197 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... |
OMIM:145001 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,... |
OMIM:277300 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Proximal tubulopathy, Elevated circulating hepatic transaminase concen... |
OMIM:614576 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... |
OMIM:602088 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Midshaft hypospadias, Patent ductus arteriosus, Dextrocardia, Renal hypoplasia/aplasia |
ORPHA:2863 |
| Mosaic Trisomy 9 |
|
Renal dysplasia, Abnormal lung lobation, Horseshoe kidney, Abnormal heart valve morphology, Endoc... |
ORPHA:99776 |
| Vacterl Association With Hydrocephalus |
|
Abnormal vertebral morphology, Renal hypoplasia, Abnormality of the vertebral column, Abnormal he... |
OMIM:276950 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... |
ORPHA:3384 |
| Eng-Strom Syndrome |
|
Pectus excavatum, Scoliosis, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Fliedner-Zweier Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosi... |
OMIM:620511 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Kyphosis, Recurrent urinary t... |
OMIM:609029 |
| Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Ventricular septal defect, Truncus arteriosus, Renal cyst, Shor... |
OMIM:615583 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Ureteral stenosis, Cyanosis,... |
ORPHA:2257 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Situs in... |
OMIM:613095 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
| 8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... |
ORPHA:251071 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuri... |
OMIM:600001 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Tetralogy of Fallo... |
ORPHA:2970 |
| Acrodysplasia Scoliosis |
|
Spina bifida occulta, Scoliosis, Vertebral segmentation defect |
ORPHA:2956 |
| Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Sacral dimple, Truncus arteri... |
ORPHA:96170 |
| Criss-Cross Heart |
|
Abnormal thorax morphology, Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal... |
ORPHA:1461 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, Abnormal ri... |
ORPHA:1797 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... |
ORPHA:85445 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... |
OMIM:609813 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Spondylolisthesis, Perimembranous ventricular septal defect, Prominent sternum,... |
OMIM:617877 |
| Megabladder, Congenital |
|
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... |
OMIM:618719 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... |
ORPHA:1686 |
| Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Hypoplastic scapulae, Narrow chest, Periportal fibrosis, Atelectasis, Thoracic ... |
OMIM:269860 |
| Femoral-Facial Syndrome |
|
Long penis, Scoliosis, Vertebral segmentation defect, Renal hypoplasia/aplasia, Rib fusion, Spren... |
ORPHA:1988 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... |
ORPHA:99050 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Recurrent upper respiratory tract infections, Cyanosis, Type II pneumocyte hypertr... |
OMIM:263000 |
| Cenani-Lenz Syndactyly Syndrome |
|
Renal hypoplasia, Renal agenesis, Ectopic kidney, Hemivertebrae, Pectus excavatum, Scoliosis, Pul... |
OMIM:212780 |
| Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
| Spondylosis, Cervical |
|
Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis |
OMIM:184300 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... |
OMIM:616037 |
| Braddock Syndrome |
|
Unilateral renal agenesis, Missing ribs, Short neck, Hemivertebrae, Pectus excavatum, Pulmonary f... |
ORPHA:52047 |
| Carpenter Syndrome 1 |
|
Hydroureter, Polysplenia, Tetralogy of Fallot, Sacral dimple, Ventricular septal defect, Hydronep... |
OMIM:201000 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Dilatation of the renal pelvis, Dilatation of the bladder, Neonatal death, Ventricular septal def... |
OMIM:265380 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Abnormal mesentery morphology, Renal hypoplasia, Hypoplasia of penis, Ventricular septal defect |
ORPHA:2256 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defect of... |
ORPHA:2255 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Ventricular septal defect, Cer... |
ORPHA:2345 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Patent fo... |
OMIM:609053 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... |
OMIM:603860 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
| Poland Syndrome |
|
Acute leukemia, Ureterocele, Aplasia/Hypoplasia of the sternum, Renal hypoplasia/aplasia, Short n... |
ORPHA:2911 |
| Pseudotrisomy 13 Syndrome |
|
Renal hypoplasia, Renal agenesis, 11 pairs of ribs, Complete atrioventricular canal defect, Ventr... |
OMIM:264480 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Renal agenesis, Muscular ventricular septal defect, Butterfly vertebra... |
OMIM:619227 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Abnormal heart m... |
ORPHA:363444 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... |
ORPHA:2260 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:614679 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Marden-Walker Syndrome |
|
Renal hypoplasia, Abnormal sternum morphology, Short neck, Dextrocardia, Micropenis, Scoliosis, H... |
OMIM:248700 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia |
OMIM:615993 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Abnormality of the vertebral column, Renal agenesis, Sprengel anomaly,... |
OMIM:601076 |
| Orofaciodigital Syndrome Xvii |
|
Micropenis, Renal hypoplasia, Tetralogy of Fallot, Short neck |
OMIM:617926 |
| Alagille Syndrome 1 |
|
Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collecting sy... |
OMIM:118450 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Unilateral renal agenesis, Ventricular septal defect |
ORPHA:3306 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:611884 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis, Ventricular septal defect |
OMIM:618504 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Cardiomyopathy, Decreased liver function, Renal insufficiency, Renal tubular ac... |
OMIM:614922 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... |
OMIM:208540 |
| Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Dilation of Virchow-Robin spaces, Kyphosis, Cervical C2/C3 vertebral f... |
OMIM:617190 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal hypoplasia, Cervical ribs, Urinary bladder wall hypertrophy, Sprengel... |
OMIM:601389 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Floating-Harbor Syndrome |
|
Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Tetralogy of Fallot, 11 pairs o... |
ORPHA:2044 |
| Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Ventricular sept... |
OMIM:613680 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... |
OMIM:615415 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Ventricular septal defect, E... |
OMIM:613759 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Hypospadias, Ventricular septal defect, Atrial septal defect, Pectus excavatum, Pulmonary sequest... |
OMIM:618330 |
| Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Atrial septal defect, Neutropenia, Dextrocardia, Anemia |
OMIM:618067 |
| Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:617577 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Butterfly vertebrae, Missing ribs, Low back pain, Short neck, Supernumerary rib... |
OMIM:122600 |
| Transaldolase Deficiency |
|
Premature skin wrinkling, Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctat... |
ORPHA:101028 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Posterior rib gap, Giant platelets, Renal insufficiency, Butterfly vertebrae, Vertebral segmentat... |
OMIM:611209 |
| Asbestos Intoxication |
|
Cor pulmonale, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thick... |
ORPHA:2302 |
| Catel-Manzke Syndrome |
|
Pectus excavatum, Scoliosis, Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Increased anterioposterior diameter of thorax, Ventricular septal defect,... |
ORPHA:99125 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... |
ORPHA:1909 |
| Ellis Van Creveld Syndrome |
|
Narrow chest, Acute leukemia, Hydroureter, Short thorax, Atrioventricular canal defect, Abnormali... |
ORPHA:289 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnorma... |
OMIM:118100 |
| Thoracoabdominal Syndrome |
|
Renal agenesis, Transposition of the great arteries, Ectopia cordis, Hypospadias, Patent ductus a... |
OMIM:313850 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Unilateral renal agenesis, Secundum atrial septal defect, Dilation of Virchow-Robin spaces, Leuke... |
OMIM:619951 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Short neck, Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:618063 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
| Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Coronary artery fistula, Macrocytic anemia, Ventricular septal defect, Short neck, A... |
OMIM:614294 |
| Marden-Walker Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ventricular septal defect, Abnormal anato... |
ORPHA:2461 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Kyphosis, Abnormal clavicle morphology, Atrioventricular canal defect, Ab... |
ORPHA:392 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Pulmonary hypoplasia, Hypoplastic scapulae, Erythema, Stillbirth, Shor... |
OMIM:308050 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Thoracic hypoplasia,... |
OMIM:615630 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Abnormal vertebral morphology, Renal hypoplasia, Increased vertebral height, Kyphoscoliosis, Down... |
OMIM:616817 |
| Nemaline Myopathy 9 |
|
Narrow chest, Scoliosis, Ventricular septal defect |
OMIM:615731 |
| Fanconi Anemia, Complementation Group N |
|
Unilateral renal agenesis, Aplastic anemia, Horseshoe kidney, Nephroblastoma, Ventricular septal ... |
OMIM:610832 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... |
OMIM:143400 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Renal hypoplasia, Absence of the sacrum, Vesicoure... |
OMIM:617660 |
| Jeune Syndrome |
|
Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Short thorax, Abnormal... |
ORPHA:474 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Renal hypoplasia, Peripheral pulmonary artery stenosis, Abnormal heart morpholo... |
ORPHA:84064 |
| Distal Duplication 6P |
|
Renal hypoplasia, Abnormality of the urinary system, Abnormal lung lobation, Long thorax, Hydrone... |
ORPHA:1745 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Tetralogy of Fallot, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology |
ORPHA:276422 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Pectus carinatum, Renal hypoplasia, Renal agenesis, Micropenis, Hypospadias, Patent ductus arteri... |
ORPHA:171839 |
| White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Unilateral renal agenesis, Poor wound healing, Bruising susceptibility, Vesicoureteral reflux, Qu... |
OMIM:606408 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Vesicoureteral reflux, Abnormal aortic morphology, Abnormality of the pulmon... |
ORPHA:1166 |
| Congenital Pulmonary Lymphangiectasia |
|
Pleural effusion, Splenomegaly, Cyanosis, Hepatomegaly, Chylopericardium, Pulmonic stenosis |
ORPHA:2414 |
| Ciliary Dyskinesia, Primary, 53 |
|
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Situs inversus totalis, Right aortic ... |
OMIM:620642 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans... |
OMIM:216360 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Leukopenia, Vesicouretera... |
OMIM:603467 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Unilateral renal agenesis, Renal hypoplasia, Ventricular hypertrophy, Aortic root aneurysm, Pectu... |
OMIM:620654 |
| Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Unilateral renal agenesis, Fractured rib, Narrow chest, Undulate ribs, Splenic cyst, S... |
OMIM:618188 |
| Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Recurrent respirat... |
OMIM:615444 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Abnormality of the urinary system, Abnormal heart morphology, Tetralogy of Fallot, Hydronephrosis... |
ORPHA:96092 |
| Pallister-Hall Syndrome |
|
Renal hypoplasia, Hydroureter, Renal dysplasia, Abnormal lung lobation, Distal urethral duplicati... |
OMIM:146510 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis |
ORPHA:3033 |
| Becker Nevus Syndrome |
|
Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Scolios... |
ORPHA:64755 |
| Pentalogy Of Cantrell |
|
Renal agenesis, Abnormal sternum morphology, Polysplenia, Tetralogy of Fallot, Abnormal pericardi... |
ORPHA:1335 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Cervical C2/C3 vertebral fusion, ... |
ORPHA:1780 |
| Floating-Harbor Syndrome |
|
Nephrocalcinosis, Glandular hypospadias, 11 pairs of ribs, Mesocardia, Kyphoscoliosis, Hydronephr... |
OMIM:136140 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Hepatic failure, Secundum atrial septal defect, Cutis marmorata, Absence of ren... |
OMIM:619758 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Ventricula... |
OMIM:614876 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Scoliosis, Abnormal rib morphology |
ORPHA:3268 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... |
OMIM:615067 |
| Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Abnormal sternum morphology, Hydronephrosis, Abnormal cardiac septum m... |
OMIM:616737 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Nephroblastoma |
OMIM:618272 |
| Czeizel-Losonci Syndrome |
|
Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Thoracolumbar scoliosis, De... |
ORPHA:2437 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Abnormality of the urinary system, Abnormality of the vertebral co... |
ORPHA:280 |
| Adams-Oliver Syndrome 4 |
|
Cutis marmorata, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Unilateral renal agenesis, Narrow chest, Recurrent sinusitis, Rib fusion, Short neck, Beaking of ... |
OMIM:213980 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Scoliosis, Atrial septal defect, Sacral dimple, Ventricular septal defect |
OMIM:608227 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Hydronephrosis, Missing ribs, Sh... |
OMIM:271520 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Hy... |
OMIM:220210 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Cyanosis, Heterota... |
ORPHA:3426 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Abnormal mesentery morphology, Abnormality of the spleen, ... |
ORPHA:93941 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Tetralogy of Fallot, Renal insufficiency, Right aortic arch, Cyanosis, V... |
OMIM:617478 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney, Vertebral seg... |
ORPHA:3109 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Short neck, Stillbirth, Renal dy... |
OMIM:236500 |
| Bardet-Biedl Syndrome 17 |
|
Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextrocardia, Micro... |
OMIM:615994 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Abnormal sternum morphology, Abnormal aortic valve morphology, Vertebral segmentation defect, Rib... |
ORPHA:2990 |
| Ciliary Dyskinesia, Primary, 2 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:606763 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic hemivertebrae, Ventricular septal defect, Bicuspid aortic valve, Short neck, Cervical he... |
ORPHA:508498 |
| Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency, Premature graying of hair |
OMIM:618681 |
| Vater/Vacterl Association |
|
Abnormal vertebral morphology, Renal agenesis, Renal dysplasia, Abnormal sternum morphology, Tetr... |
OMIM:192350 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Methylmalonic aciduria, Abnormal heart morphology, Reduced number of i... |
ORPHA:79284 |
| Autosomal Recessive Robinow Syndrome |
|
Pectus carinatum, Multicystic kidney dysplasia, Recurrent respiratory infections, Tetralogy of Fa... |
ORPHA:1507 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... |
OMIM:614817 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Vertebra... |
ORPHA:1120 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Renal hypoplasia, Ketonuria |
OMIM:619053 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Renal hypoplasia, Hypoplastic scapulae, Narrow chest, Thoracic dysplasia, Short... |
OMIM:614091 |
| Mucopolysaccharidosis, Type Iiib |
|
Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Splenomegaly, C... |
OMIM:252920 |
| Isolated Atp Synthase Deficiency |
|
Renal hypoplasia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduri... |
ORPHA:254913 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Ventricular septal defect, Missing ribs, Supernumerary ribs, Rib fusion, Hem... |
OMIM:206900 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Narrow chest, Hypertrophic cardiomyopathy, Bell-shaped thorax, Short ribs, Short neck, Anemia, At... |
ORPHA:1842 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614870 |
| Duane-Radial Ray Syndrome |
|
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... |
OMIM:607323 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... |
OMIM:614377 |
| Recombinant Chromosome 8 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, At... |
OMIM:179613 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal agenesis, Abnormal lung lobation, Abnormal aortic morphology, Renal hypoplasia/aplasia, Ven... |
ORPHA:2516 |
| Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Abnormal form of the vertebral bodies, Cholestasis, Abnorma... |
ORPHA:52 |
| 3Q29 Microdeletion Syndrome |
|
Pectus carinatum, Horseshoe kidney, Subvalvular aortic stenosis, Six lumbar vertebrae, Pectus exc... |
ORPHA:65286 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Scoliosis, Sacral dimple, Ventricular septal defect |
OMIM:619995 |
| Zttk Syndrome |
|
Unilateral renal agenesis, Kyphosis, Cervical ribs, Horseshoe kidney, Absent gallbladder, Ventric... |
OMIM:617140 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Atrial septal defect, P... |
ORPHA:401935 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Cutis marmorata, Patent ductus arteriosus |
OMIM:609757 |
| Johanson-Blizzard Syndrome |
|
Exocrine pancreatic insufficiency, Hydronephrosis, Abnormal cardiac septum morphology, Dextrocard... |
ORPHA:2315 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... |
OMIM:618316 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Coarctation of aorta, Sprengel anomaly, Dextrocardia, Micropenis |
OMIM:618929 |
| Pericardial And Diaphragmatic Defect |
|
Abnormal sternum morphology, Abnormal heart morphology, Partial diaphragmatic absence of pericard... |
ORPHA:2847 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... |
ORPHA:84081 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Unilateral renal agenesis, Anemia of inadequate production, Bicuspid... |
OMIM:614900 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Narrow chest, Thoracic dysplasia, Stage 5 chronic kidney disease, Proteinuria, ... |
OMIM:614376 |
| Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Anemia, Megaloblastic ane... |
OMIM:277380 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... |
ORPHA:79126 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Hypoplasia of penis, Abnormal rib morphology, Ventricular septal defect |
ORPHA:2772 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Hepatic fibrosis, Renal hypoplasia, Elevated circulating hepatic transaminase c... |
OMIM:620005 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Lymphopenia, 11 pairs of ribs, Ventricular septal defect, Thrombocytopenia, ... |
OMIM:618624 |
| Ververi-Brady Syndrome |
|
Scoliosis, Transposition of the great arteries |
OMIM:617982 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Pulmonary artery atresia, Decreased liver function, Ventricular septal defect |
ORPHA:306550 |
| Bresek Syndrome |
|
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Neonatal death, Hemivertebrae... |
ORPHA:85284 |
| Femoral-Facial Syndrome |
|
Abnormal renal collecting system morphology, Absent vertebra, Renal agenesis, Dysplastic sacrum, ... |
OMIM:134780 |
| Pseudo-Torch Syndrome 2 |
|
Thin ribs, Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect... |
OMIM:617397 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... |
OMIM:606003 |
| Congenital Rubella Syndrome |
|
Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal defect, Anemia, Atrial sept... |
ORPHA:290 |
| Congenital Heart Block |
|
Endocardial fibroelastosis, Pleural effusion, Cyanosis, Patent foramen ovale, Pericardial effusio... |
ORPHA:60041 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
| Robinow Syndrome |
|
Webbed penis, Multicystic kidney dysplasia, Abnormal heart morphology, Ventricular septal defect,... |
ORPHA:97360 |
| Houge-Janssens Syndrome 2 |
|
Unilateral renal agenesis, Scoliosis, Pectus excavatum |
OMIM:616362 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... |
OMIM:617641 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect |
OMIM:249670 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Unilateral renal agenesis, Coronary artery fistula, Ventricular septal defect, Neonatal death, At... |
OMIM:620024 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... |
OMIM:212093 |
| Aortic Arch Interruption |
|
Abnormal heart morphology, Cyanosis, Ventricular septal defect, Truncus arteriosus, Bicuspid aort... |
ORPHA:2299 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Leopard Syndrome 1 |
|
Unilateral renal agenesis, Pectus carinatum, Hypertrophic cardiomyopathy, Complete atrioventricul... |
OMIM:151100 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno... |
OMIM:267010 |
| Mucopolysaccharidosis, Type Iiia |
|
Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Splenomegaly, T... |
OMIM:252900 |
| Kagami-Ogata Syndrome |
|
Thin ribs, Bell-shaped thorax, Splenomegaly, Ventricular septal defect, Kyphoscoliosis, Atrial se... |
OMIM:608149 |
| Gm1-Gangliosidosis, Type I |
|
Abnormality of the urinary system, Dilated cardiomyopathy, Cherry red spot of the macula, Hypertr... |
OMIM:230500 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive ... |
OMIM:249270 |
| Thanatophoric Dysplasia |
|
Platyspondyly, Narrow chest, Kyphosis, Abnormal sacroiliac joint morphology, Atrial septal defect... |
ORPHA:2655 |
| 1P36 Deletion Syndrome |
|
Abnormality of the spleen, Hepatic steatosis, Telangiectasia, Abnormality of the kidney, Hypospad... |
ORPHA:1606 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Unilateral renal agenesis, Total anomalous pulmonary venous return, Abnormal sternum morphology, ... |
ORPHA:487796 |
| Cockayne Syndrome Type 3 |
|
Vascular calcification, Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic... |
ORPHA:90324 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Ventricular septal defect, Short neck,... |
ORPHA:93267 |
| Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis |
OMIM:617564 |
| Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Vesicoureteral reflux |
ORPHA:2512 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Scoliosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Perching Syndrome |
|
Scoliosis, Cyanosis |
OMIM:617055 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Neonatal death, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
| Mucopolysaccharidosis, Type Iva |
|
Platyspondyly, Pectus carinatum, Recurrent upper respiratory tract infections, Hypoplasia of the ... |
OMIM:253000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Spinal rigidity, Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defec... |
OMIM:253800 |
| Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis, Scoliosis |
OMIM:619504 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Annular pancreas, T... |
ORPHA:210122 |
| Mungan Syndrome |
|
Pulmonic stenosis, Renal hypoplasia, Vesicoureteral reflux, Perimembranous ventricular septal defect |
OMIM:611376 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... |
OMIM:231680 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Narrow chest, Short thorax, Patent ductus arteriosus, Atrial septal defect, Abnorm... |
ORPHA:93274 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Kyphosis, Ventricular septal defec... |
ORPHA:464311 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Short neck, Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular h... |
OMIM:617303 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Cardiac fibroma, Rib fusion, Vertebral fusion, ... |
ORPHA:377 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Hepatoblastoma, Atrial septal defect, Hepatomegaly, Hypospadias, Paten... |
OMIM:312870 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Restrictive Dermopathy |
|
Thin ribs, Pulmonary hypoplasia, Increased anterioposterior diameter of thorax, Aplasia/Hypoplasi... |
ORPHA:1662 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Abnormality of the gall... |
ORPHA:887 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def... |
OMIM:620210 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Ventricular septal defect, Renal cyst, Atrial septal defect, Stillbirth |
OMIM:263630 |
| Diamond-Blackfan Anemia 16 |
|
Anemia, Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Cyanosis, Persistent left superior vena cava, Overriding aorta, Double outle... |
ORPHA:3304 |
| 8Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Short neck, Abnormality of the kidney, Dysplastic aortic valve, Hypopl... |
ORPHA:508488 |
| Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Ventricular septal defect, Short neck, Atrial septal defect, Neutrop... |
OMIM:105650 |
| Trisomy 13 |
|
Narrow chest, Kyphosis, Abnormal lung lobation, Abnormality of the ureter, Displacement of the ur... |
ORPHA:3378 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Pulmonic stenosis, Renal hypoplasia, Patent foramen ovale |
OMIM:618914 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Lambert Syndrome |
|
Cholestasis, Ventricular septal defect, Intrahepatic biliary atresia, Jaundice, Hypospadias |
ORPHA:1296 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Cutis marmorata, Ventricular septa... |
ORPHA:96121 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormal form of the vertebral bodies, Abnormality of the uret... |
ORPHA:1834 |
| Noonan Syndrome 8 |
|
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal de... |
OMIM:615355 |
| Trisomy X |
|
Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/aplasia, Atrial septal ... |
ORPHA:3375 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scolios... |
OMIM:214300 |
| Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Atrial septal defect, Pectus excavatum, Pul... |
OMIM:618499 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617973 |
| Mucopolysaccharidosis, Type Iiic |
|
Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Splenomegaly, K... |
OMIM:252930 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Broad ribs, Short ribs, Ventricular septal defect, Atrial septal def... |
ORPHA:2519 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Scoliosis, Patent... |
OMIM:616276 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... |
OMIM:208085 |
| Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Hypospadias, Dextrocardia, Ventricular septal defect |
ORPHA:96097 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Elevated circulating aspartate aminotr... |
OMIM:280000 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Methylmalonic aciduria, Bell-shaped thorax, Horizontal ribs, Coarctation of aorta... |
OMIM:614857 |
| Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Abnormal heart morpholo... |
ORPHA:980 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Lymphopenia, Vesicoureteral reflux, Patent ductus arteriosus after premature bi... |
OMIM:618460 |
| Li-Campeau Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Micropenis, Patent ductus ... |
OMIM:619189 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyanosis, Cardiomegaly, Tricus... |
ORPHA:555874 |
| 3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Recurrent respiratory infections, Tetralogy of Fal... |
ORPHA:7 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Kyphosis, Ventricular septal defec... |
ORPHA:464306 |
| 8P23.1 Duplication Syndrome |
|
Hydronephrosis, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Nephronophthisis 9 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts |
OMIM:613824 |
| Digeorge Syndrome |
|
Intervertebral disk degeneration, Hepatic steatosis, Ventricular septal defect, Renal dysplasia, ... |
OMIM:188400 |
| Chime Syndrome |
|
Aplastic clavicle, Acute leukemia, Erythema, Tetralogy of Fallot, Ventricular septal defect, Hydr... |
ORPHA:3474 |
| Melnick-Needles Syndrome |
|
Anisospondyly, Narrow chest, Short thorax, Vesicoureteral reflux, Hydronephrosis, Short clavicles... |
ORPHA:2484 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly |
OMIM:608776 |
| Matthew-Wood Syndrome |
|
Renal hypoplasia, Annular pancreas, Horseshoe kidney, Vesicoureteral reflux, Abnormal spleen morp... |
ORPHA:2470 |
| Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Recurrent pneumonia, Narrow chest, Thoracic hypoplasia, Splenomegaly, Anterior rib... |
OMIM:602271 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Recurren... |
OMIM:615633 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
| Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal hypoplasia, Narrow chest, Bell-shaped thorax, Horizontal ribs, Short ribs, Renal cyst, Stil... |
OMIM:616300 |
| Nephronophthisis 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... |
OMIM:606966 |
| Mucopolysaccharidosis Type 6 |
|
Recurrent upper respiratory tract infections, Abnormal heart valve morphology, Broad ribs, Spleno... |
ORPHA:583 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Renal hypoplasia, Cutis marmorata, Reduced renal corticomedullary differentiation, Ves... |
OMIM:122470 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Acute leukemia, Renal insufficiency |
ORPHA:281090 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collect... |
OMIM:270400 |
| Neurooculorenal Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... |
OMIM:620305 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos... |
ORPHA:199241 |
| Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... |
OMIM:113650 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Lymphopenia, Anemia, Micrope... |
OMIM:616541 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis, Pectus excavatum |
OMIM:244200 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
| White Forelock With Malformations |
|
Spina bifida occulta, Sprengel anomaly, Atrial septal defect, Abnormal rib morphology |
ORPHA:2475 |
| Congenital Myopathy 11 |
|
Atrial septal defect, Elevated circulating hepatic transaminase concentration, Patent ductus arte... |
OMIM:619967 |
| Atelis Syndrome 1 |
|
Leukopenia, Ventricular septal defect, Lumbar kyphosis, Atrial septal defect, Thrombocytopenia, A... |
OMIM:620184 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Cholestasis, Dark urine... |
OMIM:619534 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Pulmonary hypoplasia, Ventricular septal defect, Neonatal death |
OMIM:615524 |
| Cardiospondylocarpofacial Syndrome |
|
Horseshoe kidney, Muscular ventricular septal defect, Vesicoureteral reflux, Herniation of interv... |
OMIM:157800 |
| Distal Triplication 15Q |
|
Dilatation of the renal pelvis, Kyphosis, Abnormal sternum morphology, Horseshoe kidney, Abnormal... |
ORPHA:314588 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck, Atrial septal defect, Pectus ... |
OMIM:615279 |
| 22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Short neck, Atrial septal defect, Polycystic kidney dysplasia, Hypospa... |
ORPHA:567 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts |
ORPHA:2924 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Renal Coloboma Syndrome |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... |
ORPHA:1475 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis... |
ORPHA:157 |
| Cach Syndrome |
|
Renal hypoplasia, Hepatosplenomegaly, Pancreatitis |
ORPHA:135 |
| Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Splenic... |
ORPHA:335 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Atrial septal defect, Patent foramen ovale |
ORPHA:89844 |
| Developmental And Epileptic Encephalopathy 102 |
|
Hepatomegaly, Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
| Cog1-Cdg |
|
Posterior rib gap, Hepatosplenomegaly, Butterfly vertebrae, Vertebral segmentation defect, Kyphos... |
ORPHA:263508 |
| Cerebrofaciothoracic Dysplasia |
|
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Bifid ribs... |
ORPHA:1394 |
| Trisomy 17P |
|
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis |
ORPHA:261290 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Lacticaciduria, Hepat... |
OMIM:604273 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Micropenis, Renal hypoplasia, Short neck |
OMIM:620439 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Vertebral segmentation defect, Short neck, Abnormal rib morphology, Ectopic kidne... |
ORPHA:2578 |
| Pagod Syndrome |
|
Hypoplastic left heart, Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Abnormal clavi... |
ORPHA:991 |
| Mucopolysaccharidosis, Type X |
|
Aortic valve stenosis, Platyspondyly, Broad clavicles, Broad ribs, Thickened aortic valve cusp, S... |
OMIM:619698 |
| Tetrasomy 9P |
|
Hypoplastic scapulae, Absent gallbladder, Abnormal mitral valve morphology, Short neck, Dextrocar... |
ORPHA:3310 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal insufficiency, Cardiomegaly, Hydronephrosis, Long-chain dicarboxylic aciduria, Hepatomegaly... |
OMIM:608836 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta, Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Pectus carinatum, Atlantoaxial instability, Congenital kyphoscoliosis, Subdural hemorrhage, Poor ... |
ORPHA:536545 |
| Short Stature And Facioauriculothoracic Malformations |
|
Pectus carinatum, Cervical ribs, Abnormal odontoid process morphology, Ventricular septal defect,... |
OMIM:609654 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... |
OMIM:617666 |
| Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Vascular skin abnormality, Abnormality of the gallbladder, ... |
ORPHA:349 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Abnormal thoracic spine morphology, Abnormal spleen morphology, Pleural effus... |
ORPHA:464329 |
| Noonan Syndrome 4 |
|
Bruising susceptibility, Abnormal sternum morphology, Hypertrophic cardiomyopathy, Ventricular se... |
OMIM:610733 |
| Klippel-Trénaunay Syndrome |
|
Microcytic anemia, Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Veno... |
ORPHA:90308 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Scoliosis, Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br... |
ORPHA:95430 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Horseshoe kidney, Tetralogy of Fallot, Cyanosis, Hydronephrosis, Pe... |
ORPHA:2886 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... |
OMIM:619313 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia |
OMIM:608022 |
| Roifman Syndrome |
|
Recurrent pneumonia, Biconvex vertebral bodies, Splenomegaly, Ventricular septal defect, Noncompa... |
OMIM:616651 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Thoracic hypoplasia, Hypertrophic cardiomyopathy, Pleural effusion, Ventricular se... |
OMIM:616897 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d... |
ORPHA:439 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Cer... |
ORPHA:79345 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrocalcinosis, Hypoplastic sacrum, Thoracic hemivertebrae, Abnormal heart morphology, Renal du... |
OMIM:268310 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Cervical ribs, Horseshoe kidney, Abnormal heart morphology, Transient ... |
ORPHA:500150 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... |
OMIM:256100 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Cyanosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice |
OMIM:613977 |
| Acrofacial Dysostosis 1, Nager Type |
|
Unilateral renal agenesis, Tetralogy of Fallot, Hypoplasia of first ribs, Ventricular septal defe... |
OMIM:154400 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Cardiomegaly, Hepatomegaly, Myoglobi... |
ORPHA:228308 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... |
OMIM:614954 |
| Ulnar-Mammary Syndrome |
|
Pectus carinatum, Renal hypoplasia, Abnormal clavicle morphology, Ventricular septal defect, Spre... |
ORPHA:3138 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal d... |
OMIM:618454 |
| Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Abnormal rib morphology, Renal hypoplasia/aplasia |
ORPHA:195 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Short neck |
ORPHA:464288 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal cyst, Renal insufficiency |
OMIM:611773 |
| Metatropic Dysplasia |
|
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Long thorax,... |
ORPHA:2635 |
| Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Cyanosis, Short neck, Pneumothorax, Single ventricle, Polycystic kidney dysplas... |
OMIM:619879 |
| 12Q14 Microdeletion Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Abnormality of the spleen, Ectopic kidney, Scoliosis |
ORPHA:94063 |
| Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Kyphoscoliosis, Ventricular septal defect, Renal cyst, Intrahepatic biliary atr... |
OMIM:614815 |
| 8Q12 Microduplication Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
| Cornelia De Lange Syndrome 6 |
|
Pectus carinatum, Atrioventricular canal defect, Ventricular septal defect, Down-sloping shoulder... |
OMIM:620568 |
| Megalencephaly |
|
Short neck, Long penis, Atrial septal defect |
ORPHA:2477 |
| Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Increased mean corpuscular volume, Horseshoe kidney, Tetralogy of ... |
OMIM:612562 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Butterfly vertebrae, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hyper... |
OMIM:618870 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Renal agenesis, Anomalous origin of left cor... |
ORPHA:2326 |
| Phaver Syndrome |
|
Abnormal form of the vertebral bodies, Butterfly vertebrae, Ventricular septal defect, Coarctatio... |
ORPHA:2876 |
| Neuralgic Amyotrophy |
|
Sprengel anomaly, Acrocyanosis, Scapular winging |
ORPHA:2901 |
| Chromosome 15Q14 Deletion Syndrome |
|
Recurrent viral upper respiratory tract infections, Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased proportion... |
OMIM:611926 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormality of the ureter, Short ... |
ORPHA:2522 |
| 3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaric aciduria, Dilated cardiomyopathy, Elevated circulating aspartate aminotransferas... |
OMIM:610198 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Knobloch Syndrome |
|
Bifid ureter, Vesicoureteral reflux, Dextrocardia, Lymphangioma, Patent ductus arteriosus |
ORPHA:1571 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog... |
OMIM:612561 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ... |
ORPHA:488618 |
| Formiminoglutamic Aciduria |
|
Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic anemia, Atrial septal... |
ORPHA:51208 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Narrow chest, Kyphosis, Excessive wrinkled skin, Abnormal sacroiliac joint morphol... |
ORPHA:1860 |
| Joubert Syndrome With Ocular Defect |
|
Abnormal vertebral morphology, Scoliosis, Dextrocardia |
ORPHA:220493 |
| Mosaic Trisomy 16 |
|
Horseshoe kidney, Abnormal heart morphology, Abnormal thorax morphology, Ventricular septal defec... |
ORPHA:1708 |
| Neu-Laxova Syndrome 1 |
|
Yellow subcutaneous tissue covered by thin, scaly skin, Renal agenesis, Patent foramen ovale, Ven... |
OMIM:256520 |
| Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Transient ischemic attack, Ischemic stroke, Pulmonary hemorrhage, Hemotho... |
ORPHA:2038 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal localization of kidney, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... |
OMIM:613404 |
| Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, Premature skin wr... |
ORPHA:90348 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Horizontal ribs, Short ribs, Ventricula... |
OMIM:617895 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Pectus carinatum, Narrow chest, Hepatic fibrosis, Lateral clavicle hook, Thoracic ... |
OMIM:263520 |
| Cerebrofacioarticular Syndrome |
|
Renal hypoplasia, Caudal appendage, Abnormal heart morphology, Hypospadias, Pulmonic stenosis |
ORPHA:314679 |
| Degcags Syndrome |
|
Chronic kidney disease, Premature graying of hair, Cholestasis, Hepatosplenomegaly, Pancytopenia,... |
OMIM:619488 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal r... |
ORPHA:2790 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Abnormal renal morphology, Bicuspid aortic valve... |
ORPHA:329224 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Erythema, Internally rotated shoulders, Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Reduc... |
OMIM:619503 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Tortuous cerebral arteries, Unilateral renal agenesis, Premature skin wrinkling, Os odontoideum |
OMIM:616603 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, B... |
ORPHA:49 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Transient ischemic atta... |
ORPHA:183 |
| Renpenning Syndrome 1 |
|
Renal hypoplasia, Tetralogy of Fallot, Situs inversus totalis, Phimosis, Ventricular septal defec... |
OMIM:309500 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Barrel-shaped chest, ... |
ORPHA:505248 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Lacticaciduria, Hepatomegaly, Polycystic kidney dys... |
ORPHA:26791 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C... |
OMIM:301068 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Scoliosis, Atrial septal defect, Abnormality of the kidney |
ORPHA:466926 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypospadias, Renal dysplasia |
OMIM:615985 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Pectus carinatum, Short thorax, Spinal canal stenosis, Abnormal heart valve morpho... |
ORPHA:582 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Pulmonary hypoplasia, Anterior clefting of vertebral bodies, Down-sloping shoulders, Rib fusion, ... |
OMIM:265000 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Abnormal form of the vertebral bodies, Rib segmentation abnormalities, Ventricu... |
OMIM:194190 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Platyspondyly, Renal hypoplasia, Shoulder flexion contracture, Tetralogy of Fallot, Muscular vent... |
OMIM:210710 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficiency, Ventricular septal defect, Short... |
OMIM:617159 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Subpleural interstitial thic... |
ORPHA:60025 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... |
OMIM:120330 |
| Mosaic Trisomy 14 |
|
Narrow chest, Short neck, Abnormal rib morphology, Hypoplasia of penis, Hypospadias |
ORPHA:1703 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cyanosis, Abnormality of the lower urinary tract, Cardiomegaly, Abno... |
ORPHA:391428 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... |
OMIM:618348 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Recurrent pneumonia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, ... |
ORPHA:500159 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma |
OMIM:135150 |
| Cat Eye Syndrome |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Renal agenesis, Horseshoe kidney... |
OMIM:115470 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Abnormal heart morphology, Scoliosis, Atrial septal defect, Kyphosis |
ORPHA:352490 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Short neck, Unilateral renal hypoplasia, Vesicoureteral reflux, Dilation of Virchow-Robin spaces |
OMIM:619955 |
| Marfanoid Habitus With Situs Inversus |
|
Pectus carinatum, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent... |
OMIM:609008 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Hurler Syndrome |
|
Abnormal vertebral morphology, Abnormal clavicle morphology, Cardiomyopathy, Spinal canal stenosi... |
ORPHA:93473 |
| Carpenter Syndrome 2 |
|
Pectus carinatum, Situs inversus totalis, Short neck, Transposition of the great arteries, Atrial... |
OMIM:614976 |
| Constricting Bands, Congenital |
|
Abnormal rib cage morphology, Abnormal lung lobation, Ectopia cordis, Scoliosis, Bladder exstrophy |
OMIM:217100 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Unilateral renal agenesis, Ebstein anomaly of the tricuspid valve, Renal agenesis |
OMIM:608980 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Williams Syndrome |
|
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Overriding aorta, Atrial... |
ORPHA:904 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... |
OMIM:137920 |
| Arima Syndrome |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... |
OMIM:243910 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Atrial septal defect, Atelectasis |
ORPHA:896 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary ribs, Scapular winging, Pectus excavatum, Six lumbar vertebrae |
OMIM:619122 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Neutropenia, Hepatomegaly, Recurrent lower respiratory tract inf... |
OMIM:612541 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Pectus carinatum, Aortic root aneurysm, Ventricular septal defect, Atrial septal defect, Pectus e... |
OMIM:301039 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia, Aminoaciduria |
OMIM:214110 |
| Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia, Polysplenia |
OMIM:617784 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Recurrent lower respiratory tract infections, Atrial septal defect |
OMIM:617744 |
| Tetrasomy 15Q26 |
|
Horseshoe kidney, Kyphoscoliosis, Hydronephrosis, Atrial septal defect, Hypoplastic aortic arch, ... |
OMIM:614846 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Hypospadias, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Aortic root aneurysm... |
OMIM:607872 |
| Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Urinary incontinence, Atrial septal defect |
OMIM:620094 |
| Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Unilateral renal agenesis, Dilatation of the renal pelvis, Recurrent urina... |
ORPHA:268261 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Stroke, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia |
ORPHA:49827 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Abnormal thorax morphology, Respiratory tract infection, Cyanosis, Pulmon... |
ORPHA:70587 |
| Aspergillosis |
|
Pneumonia, Abnormality of the vertebral column, Hepatitis, Pleural effusion, Stroke, Eosinophilia... |
ORPHA:1163 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... |
ORPHA:2237 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal hypoplasia, Pancytopenia, Renal insufficiency, Telangiectasia of the skin, Hypoplasia of pe... |
ORPHA:85321 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus, Sacral dimple |
OMIM:615502 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Unilateral renal agenesis, Arteria lusoria, Reduced natural killer cell count, Recurrent urinary ... |
ORPHA:221139 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Cyanosis |
ORPHA:71277 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Recurre... |
OMIM:613807 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Unilateral renal agenesis, Absence of the sacrum, Neonatal death, ... |
OMIM:615709 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death |
OMIM:620203 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232200 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, ... |
ORPHA:139466 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Broad ribs, Ventricular septal defect, Cardiomegaly, Thoracic scoliosis, Short neck... |
OMIM:617022 |
| Noonan Syndrome 10 |
|
Pectus carinatum, Hypertrophic cardiomyopathy, Pleural effusion, Mitral stenosis, Mitral valve pr... |
OMIM:616564 |
| Fanconi Anemia, Complementation Group B |
|
Abnormal vertebral morphology, Aplastic anemia, Renal agenesis, Abnormal lung lobation, Ventricul... |
OMIM:300514 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Renal hypoplasia, Venous malformation, Splenomegaly, Nephroblastoma, Scoliosis |
OMIM:612918 |
| Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome, Acrocyanosis |
OMIM:123540 |
| Andersen-Tawil Syndrome |
|
Renal hypoplasia, Dilated cardiomyopathy, Scoliosis, Renal tubular dysfunction |
ORPHA:37553 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
| Ciliary Dyskinesia, Primary, 23 |
|
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Bronchiectasis |
OMIM:615451 |
| Bardet-Biedl Syndrome 6 |
|
Renal cyst, Hypospadias |
OMIM:605231 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... |
OMIM:174000 |
| 8P11.2 Deletion Syndrome |
|
Splenomegaly, Mitral valve prolapse, Supernumerary ribs, Spherocytosis, Atrial septal defect, Hyp... |
ORPHA:251066 |
| Mucopolysaccharidosis, Type Vii |
|
Platyspondyly, Thoracolumbar kyphosis, Recurrent upper respiratory tract infections, Hypoplasia o... |
OMIM:253220 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Platyspondyly, Recurrent upper respiratory tract infections, Hypoplasia of... |
OMIM:253010 |
| Desbuquois Syndrome |
|
Short neck, Bell-shaped thorax, Scoliosis, Ventricular septal defect |
ORPHA:1425 |
| Charge Syndrome |
|
Lymphopenia, Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus art... |
OMIM:214800 |
| Cooper-Jabs Syndrome |
|
Missing ribs, Scoliosis, Abnormal rib morphology, Ventricular septal defect |
ORPHA:1488 |
| Aicardi Syndrome |
|
Block vertebrae, Recurrent pneumonia, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib ... |
OMIM:304050 |
| Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Narrow chest, Horizontal ribs, Short ribs, Ectodermal dysplasia, Atrial septal ... |
OMIM:225500 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatic failure, Oliguria, Elevated circulating hepatic transaminase concentration, Cardiomyopath... |
ORPHA:159 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Rib fusion, Vascular skin abnormality, Dilation of Virchow-Robin spaces, Sacral dimple |
ORPHA:544488 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Recurrent pneumonia, Abnormal... |
ORPHA:1329 |
| Kyphomelic Dysplasia |
|
Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Anterior rib cu... |
ORPHA:1801 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| Abruzzo-Erickson Syndrome |
|
Abnormal localization of kidney, Hypospadias, Atrial septal defect, Coronal hypospadias |
ORPHA:921 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Coat hanger sign of ribs, Thoracic hypoplasia, Ventricular septal defect |
ORPHA:254534 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
| Pseudo-Torch Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Renal insuffic... |
OMIM:251290 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Double Outlet Left Ventricle |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary artery ste... |
ORPHA:3427 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Short thorax, Ventricular septal defect, Hydronephrosis, Abnormal r... |
ORPHA:261344 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... |
OMIM:614582 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Scoliosis, Patent foramen ovale, Short thorax |
ORPHA:88630 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven... |
OMIM:612474 |
| Birk-Landau-Perez Syndrome |
|
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Ca... |
OMIM:617595 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent ductu... |
OMIM:618652 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis, Ventricular septal defect, Tricuspid valve prolapse, Scoliosis, Patent... |
ORPHA:261337 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Pectus carinatum, Abnormal cerebral vascular morphology, Premature skin wr... |
ORPHA:363705 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Persistence of hemoglobin F, V... |
OMIM:619769 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Platyspondyly, Unilateral renal agenesis, Recurrent pneumonia, Acute myelomonocytic leukemia, Sec... |
ORPHA:99646 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Cutis marmorata, Ventricular septal defect, Coarctation of aorta, Atrial se... |
OMIM:617602 |
| Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
| Limb Body Wall Complex |
|
Progressive congenital scoliosis, Abnormality of the vertebral column, Thoracic hypoplasia, Abnor... |
ORPHA:2369 |
| Esophageal Atresia |
|
Abnormal vertebral morphology, Abnormality of the urinary system, Renal agenesis, Bronchitis, Tet... |
ORPHA:1199 |
| Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Elevated circulating hepatic transaminase concentration, Acute hepatic fa... |
ORPHA:1667 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Pectus carinatum, Oligosacchariduria, Hepatosplenomegaly, Kyphoscoliosis, Atrial septal defect, P... |
ORPHA:397709 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect |
OMIM:300887 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
| Congenital Myopathy 17 |
|
Renal hypoplasia, Narrow chest, Ureteropelvic junction obstruction, Respiratory tract infection, ... |
OMIM:618975 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Micropenis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613870 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Recurrent upper respiratory tract infect... |
OMIM:308205 |
| Townes-Brocks Syndrome |
|
Abnormal vertebral morphology, Renal hypoplasia, Abnormal rib morphology, Tetralogy of Fallot, Re... |
ORPHA:857 |
| Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Narrow chest, Short ribs, Hypoplastic vertebral bodies, Short neck, Atrial septal ... |
ORPHA:2347 |
| Potocki-Lupski Syndrome |
|
Abnormal renal morphology, Scoliosis, Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Left ventricular noncompaction, Patent f... |
OMIM:619167 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Prominent floating ribs, Lymphopenia, Stillbirth |
OMIM:152800 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Abnormal heart morphology, Pneumonia, Acrocyanosis |
ORPHA:1867 |
| Pallister-Hall Syndrome |
|
Hypospadias, Unilateral renal agenesis, Bilateral renal agenesis, Renal dysplasia, Abnormal lung ... |
ORPHA:672 |
| 20P12.3 Microdeletion Syndrome |
|
Pectus carinatum, Atrial septal defect |
ORPHA:261295 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Narrow chest, Hepatic failure, Pancreatic lymphangiectasis, Splenomegaly, Ventricular septal defe... |
OMIM:235255 |
| Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Abnormal lung morphology, Abnormal lung lobation, Abnormality of the uret... |
ORPHA:141127 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent sinusitis, Eosinophilia, Atrial septal defect, Recurrent respirato... |
OMIM:618282 |
| Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Hypoplastic heart, Vertebral fusion, Abnormal cervical curvature, Pulmonary hypoplasia |
OMIM:312150 |
| Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Scoliosis, Hemivertebrae |
OMIM:614688 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Abnormal renal morpho... |
ORPHA:477817 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Scoliosis, Intestinal lymphangiectasia, Horseshoe kidney, Vesicoureteral reflux, Pleural effusion... |
OMIM:235510 |
| Catel-Manzke Syndrome |
|
Pectus carinatum, Ventricular septal defect, Short neck, Overriding aorta, Coarctation of aorta, ... |
OMIM:616145 |
| Timothy Syndrome |
|
Pneumonia, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Card... |
OMIM:601005 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Nephrocalcinosis, Narrow chest, Elevated circulating hepatic transaminase co... |
OMIM:260400 |
| Tarp Syndrome |
|
Hepatic failure, Subdural hemorrhage, Horseshoe kidney, Tetralogy of Fallot, Neonatal death, Hydr... |
OMIM:311900 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect |
OMIM:614262 |
| Kbg Syndrome |
|
Cervical ribs, Epispadias, Rib fusion, Short neck, Vertebral fusion, Vertebral arch anomaly, Thor... |
OMIM:148050 |
| Codas Syndrome |
|
Hydroureter, Abnormal form of the vertebral bodies, Ventricular septal defect, Extrahepatic bilia... |
ORPHA:1458 |
| Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Narrow chest, Posterior wedging of vertebral bodies, Aplasia/Hypoplasia of the ver... |
ORPHA:168549 |
| Mirage Syndrome |
|
Microphallus, Recurrent urinary tract infections, Aspiration pneumonia, Lymphopenia, Leukopenia, ... |
OMIM:617053 |
| Recombinant 8 Syndrome |
|
Abnormal sternum morphology, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery ste... |
ORPHA:96167 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... |
OMIM:232220 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:613390 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Cutis marmorata, Nephroblastoma, Ventricular septal defect |
OMIM:602501 |
| Frontoocular Syndrome |
|
Pectus excavatum, Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, 11 pairs of ribs, Ventricular septal defect, Hemivertebrae, Hypopl... |
ORPHA:77298 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Narrow chest, Hepatic failure, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Ven... |
ORPHA:1655 |
| Developmental And Epileptic Encephalopathy 90 |
|
Fetal pyelectasis, Atrial septal defect |
OMIM:301058 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Narrow chest, Lateral clavicle hook, Thoracic dysplasia, Short ribs, Ventricular septal defect, P... |
OMIM:615503 |
| Suleiman-El-Hattab Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Hydronephrosis, Atrial septal defect, Recurrent ... |
OMIM:618950 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
| Aicardi Syndrome |
|
Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hepatoblastom... |
ORPHA:50 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
| Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Platyspondyly, Butterfly vertebrae, Short ribs, Short sternum, Short neck, Hepatomegal... |
OMIM:620076 |
| Aicardi-Goutieres Syndrome 1 |
|
Vasculitis, Erythema, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Sp... |
OMIM:225750 |
| Chromosome 5Q12 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Short neck, Atrial septal defect, Patent ductus ... |
OMIM:615668 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Situs inversus totalis |
OMIM:614833 |
| Lujan-Fryns Syndrome |
|
Pectus excavatum, Scoliosis, Atrial septal defect |
ORPHA:776 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Ventricula... |
OMIM:616277 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale, Stage 1 chronic kidney disease, Short neck |
OMIM:618821 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Cystic pattern on pulmonary HRCT, Oxygen desaturation on exertion, Hypoxemia, Ventri... |
OMIM:610978 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis, Renal st... |
OMIM:261680 |
| Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Honeycomb lung, A... |
ORPHA:2032 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Urogenital sinus anomaly, Ventricular sept... |
OMIM:618901 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Cutis marmorata |
OMIM:613735 |
| Williams-Beuren Syndrome |
|
Premature graying of hair, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valv... |
OMIM:194050 |
| Coffin-Siris Syndrome 6 |
|
Pectus excavatum, Atrial septal defect, Kyphoscoliosis |
OMIM:617808 |
| Noonan Syndrome 7 |
|
Pectus carinatum, Hypertrophic cardiomyopathy, Short neck, Atrial septal defect, Pectus excavatum... |
OMIM:613706 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Pectus carinatum, Hypertrophic cardiomyopathy, Atrial septal defect, Hepatomegaly, Recurrent resp... |
OMIM:619383 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Ventricular septal defect, Atrial septal defect, Kyphosis, Vascular ring |
OMIM:603387 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
| Cranioectodermal Dysplasia 2 |
|
Cholestasis, Short neck, Ectodermal dysplasia, Atrial septal defect, Hepatomegaly, Bile duct prol... |
OMIM:613610 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Hemivertebrae, Micropenis... |
OMIM:113000 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Recurrent pneumonia, Pectus carinatum, Ventricular septal defect, Hydronephrosis, At... |
OMIM:616449 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Renal t... |
OMIM:614886 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616867 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Multicystic kidney dysplasia, Renal agenesis, Abnormal lung lobation, Horsesho... |
ORPHA:2538 |
| Hoxha-Aliu Syndrome |
|
Abnormal vertebral morphology, Platyspondyly, Pectus carinatum, Increased vertebral height, Vesic... |
OMIM:620662 |
| Diamond-Blackfan Anemia 10 |
|
Renal duplication, Ventricular septal defect, Supernumerary ribs, Macrocytic anemia, Steroid-resp... |
OMIM:613309 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Splenomegaly, Renal cyst, Hepatomegaly, Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:610199 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Cockayne Syndrome |
|
Vascular calcification, Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic... |
ORPHA:191 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Pleural effusion, Cyanosi... |
OMIM:261740 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Platyspondyly, Hypoplastic scapulae, Thoracic hypoplasia, Posterior rib cupping, Paten... |
OMIM:228520 |
| Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney |
OMIM:606232 |
| Hypoglossia With Situs Inversus |
|
Asplenia, Situs inversus totalis, Polysplenia |
OMIM:612776 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... |
OMIM:130650 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated circulating hepatic transaminase concentration, Leukopenia, Vesicoureteral reflux, Butte... |
OMIM:301056 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Abnormality of the urinary system, Tetralogy of Fallot, Abnormal thorax morphology, Patent ductus... |
ORPHA:2184 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the upper urinary tract, Abnormality of the urethra, Aplasia/Hypoplasia of the lun... |
ORPHA:2145 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Neutropenia, Abnormal rib morphology |
ORPHA:2643 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Atrial septal defect |
ORPHA:1035 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis |
OMIM:606995 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Micropenis, Ureteral duplication, Hypospadias, Pat... |
OMIM:617516 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Hypoplastic heart, Vertebral fusion, Abnormal cervical curvature, Pulmonary hypoplasia |
OMIM:253290 |
| Joubert Syndrome 7 |
|
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:611560 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hypospadias, Recurrent pneumonia, Ventricular septal defect, Bicuspid aortic valve, Scoliosis, Pa... |
OMIM:617751 |
| Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Prematurely aged appearance, Abnormal thorax morphology, Abnormalit... |
ORPHA:1318 |
| Van Maldergem Syndrome 1 |
|
Hypospadias, Narrow chest, Renal hypoplasia, Short clavicles, Scoliosis, Sacral dimple |
OMIM:601390 |
| Ciliary Dyskinesia, Primary, 27 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... |
OMIM:615504 |
| King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Scoliosis, Thoracic ... |
OMIM:619542 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Unilateral renal agenesis, Hypoplastic scapulae, Abnormality of th... |
ORPHA:95699 |
| Coffin-Siris Syndrome 1 |
|
Renal hypoplasia, Hydroureter, Kyphosis, Tetralogy of Fallot, Cutis marmorata, Ventricular septal... |
OMIM:135900 |
| Postaxial Acrofacial Dysostosis |
|
Micropenis, Pectus excavatum, Supernumerary vertebrae, Abnormality of the kidney |
OMIM:263750 |
| Achondrogenesis Type 1B |
|
Narrow chest, Abnormal rib morphology, Short neck, Aplasia/Hypoplasia of the lungs, Short thorax |
ORPHA:93298 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Pectus carinatum, Abnormality of the urethra, Renal agenesis, Cardiomy... |
ORPHA:2842 |
| Lessel-Kreienkamp Syndrome |
|
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... |
OMIM:619149 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatosplenomegaly, Splenomegaly, Renal cyst, Hepatomegaly, Polycystic kidney dysplasia, Hypospad... |
OMIM:614866 |
| Contractural Arachnodactyly, Congenital |
|
Pectus carinatum, Aortic root aneurysm, Congenital kyphoscoliosis, Mitral valve prolapse, Ventric... |
OMIM:121050 |
| Mckusick-Kaufman Syndrome |
|
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula |
OMIM:236700 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Central cyanosis, Bicuspid aortic valve, Subvalvular aortic stenosis... |
OMIM:620067 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Abnormal heart morphology, Unilateral renal hypoplasia, Ureteropelvic junc... |
ORPHA:2729 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Down-sloping shoulders, Short neck, Atrial septal defect, Scoliosis, S... |
OMIM:617452 |
| Tyshchenko Syndrome |
|
Narrow chest, Ventricular septal defect, Atrial septal defect, Pectus excavatum, Pulmonic stenosis |
OMIM:615102 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,... |
OMIM:614868 |
| Renpenning Syndrome |
|
Heterotaxy, Sprengel anomaly, Abnormal rib morphology, Pectus excavatum, Hypospadias |
ORPHA:3242 |
| Ciliary Dyskinesia, Primary, 28 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... |
OMIM:615505 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Renal duplication, Kyphoscoliosis |
ORPHA:96190 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Nephrocalcinosis, Kyphoscoliosis, Atrial septal defect, Neutropenia, Recurrent lower respiratory ... |
OMIM:618005 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy |
ORPHA:444013 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Spinal canal stenosis, Narrow vertebral interpedicular distance, Hypop... |
OMIM:101800 |
| Chops Syndrome |
|
Aspiration pneumonia, Horseshoe kidney, Vesicoureteral reflux, Splenomegaly, Patent foramen ovale... |
OMIM:616368 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Axial malrotation of the kidney, Cervical ribs, Horseshoe kidney, Tetralogy of Fallot, Abnormal c... |
ORPHA:3320 |
| Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... |
OMIM:616730 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis, Atrial septal defect |
ORPHA:500533 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Fryns Syndrome |
|
Thin ribs, Ectopic pancreatic tissue, Chylothorax, Renal agenesis, Thoracic hypoplasia, Polysplen... |
OMIM:229850 |
| Poems Syndrome |
|
Polycythemia, Sclerotic vertebral endplates, Pleural effusion, Splenomegaly, Plethora, Hepatomega... |
ORPHA:2905 |
| Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Renal insufficiency, Cardiac myxoma,... |
OMIM:181270 |
| Ciliary Dyskinesia, Primary, 18 |
|
Recurrent sinusitis, Abdominal situs ambiguus, Situs inversus totalis, Chronic bronchitis |
OMIM:614874 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Short neck,... |
OMIM:612582 |
| Necrotizing Enterocolitis |
|
Abnormal heart morphology, Leukocytosis, Cyanosis, Peritonitis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Facial telangiectasia, Splen... |
OMIM:602782 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Decreased liver function, Extramedullary hematopoiesis, Sidero... |
OMIM:617021 |
| Van Maldergem Syndrome 2 |
|
Hypospadias, Renal hypoplasia, Narrow chest, Short clavicles, Micropenis, Scoliosis, Sacral dimple |
OMIM:615546 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis, Atrial septal defect |
OMIM:611087 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
| Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Thoracic hypoplasia, Rib gap, Horseshoe kidney, Anomalous rib insertion to ver... |
OMIM:117650 |
| Metatropic Dysplasia |
|
Platyspondyly, Anisospondyly, Narrow chest, Hypoplasia of the odontoid process, Caudal appendage,... |
OMIM:156530 |
| Meckel Syndrome, Type 4 |
|
Renal cyst, Atrial septal defect, Bile duct proliferation, Ventricular septal defect |
OMIM:611134 |
| Kinsship Syndrome |
|
Renal hypoplasia, Cervical ribs, Horseshoe kidney, Supernumerary ribs, Short neck, Scoliosis, Sac... |
OMIM:619297 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Narrow chest, Hepatic fibrosis, Lateral clavicle hook, Thoraci... |
OMIM:208500 |
| Tyrosinemia, Type I |
|
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Rena... |
OMIM:276700 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis |
OMIM:607578 |
| Rauch-Steindl Syndrome |
|
Bilateral renal hypoplasia, Hyperechogenic kidneys, Exocrine pancreatic insufficiency, Hepatomega... |
OMIM:619695 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ... |
ORPHA:322 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Th... |
OMIM:619980 |
| Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis |
OMIM:613193 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... |
OMIM:613159 |
| ERI1-related disease |
|
Platyspondyly, Pectus carinatum, Narrow chest, Abnormal heart morphology, Increased vertebral hei... |
OMIM:608739 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... |
OMIM:618496 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Atr... |
OMIM:220500 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Transient ischemic attack, Anomalous origin of the left common carotid artery from the... |
ORPHA:99104 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Short neck, Pectus excavatum, S... |
OMIM:619194 |
| Tatton-Brown-Rahman Syndrome |
|
Scoliosis, Vesicoureteral reflux, Atrial septal defect, Ventricular septal defect |
OMIM:615879 |
| 17Q12 Microduplication Syndrome |
|
Abnormal vertebral morphology, Atrial septal defect |
ORPHA:261272 |
| Joubert Syndrome 35 |
|
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections |
OMIM:618161 |
| Baller-Gerold Syndrome |
|
Abnormal vertebral morphology, Erythema, Abnormal heart morphology, Rib fusion, Abnormality of th... |
OMIM:218600 |
| Noonan Syndrome |
|
Pectus carinatum, Dilatation of the renal pelvis, Juvenile myelomonocytic leukemia, Bruising susc... |
ORPHA:648 |
| Noonan Syndrome 2 |
|
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Short neck, Atrial septa... |
OMIM:605275 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Scoliosis, Cyanosis |
ORPHA:98913 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308750 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hydroneph... |
OMIM:617913 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Hypoplastic sacrum, Sho... |
OMIM:614083 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating hepatic transaminase concentration, Atrial septal defect, Decreased liver fu... |
OMIM:615160 |
| Multifocal Atrial Tachycardia |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di... |
ORPHA:3282 |
| Ciliary Dyskinesia, Primary, 35 |
|
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis |
OMIM:617092 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys |
OMIM:617914 |
| Cantú Syndrome |
|
Platyspondyly, Narrow chest, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Broad ... |
ORPHA:1517 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis, Patent foramen ovale |
OMIM:615156 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Acute kidney injury, Large vessel vasculitis, Unilateral renal hypoplasia, Ren... |
ORPHA:49041 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Scapular winging, Pect... |
OMIM:617061 |
| Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Short neck, Coarctation of aorta, Pulmonic stenosis |
OMIM:616559 |
| Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Glandular hypospadias, Tetralogy of Fallot,... |
ORPHA:2473 |
| Gracile Bone Dysplasia |
|
Micropenis, Asplenia, Hypoplastic spleen, Thin ribs |
OMIM:602361 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad clavicles, Abnormal form of the vertebral bodies, Mitral valve prolapse, Ventricular septal... |
ORPHA:371428 |
| Eisenmenger Syndrome |
|
Bacterial endocarditis, Increased mean corpuscular volume, Abnormal heart morphology, Tetralogy o... |
ORPHA:97214 |
| Holzgreve Syndrome |
|
Abnormal mesentery morphology, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Abnorma... |
ORPHA:2167 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Kyphosis, Short neck, Sprengel anomaly, Double outlet right ventricle... |
OMIM:618223 |
| Hypophosphatasia |
|
Emphysema, Narrow chest, Anemia, Abnormal rib morphology |
ORPHA:436 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Poor wound healing, Bruising susceptibility, Scoliosis, Atrial septal defect |
OMIM:619115 |
| Noonan Syndrome 13 |
|
Bruising susceptibility, Mitral valve prolapse, Short neck, Atrial septal defect, Duplicated coll... |
OMIM:619087 |
| Grange Syndrome |
|
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Oroticaciduria, Ventricular septal defect, Hematuria, P... |
OMIM:258900 |
| Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Ventricular septal defect, Hydronephro... |
OMIM:613001 |
| Cartilage-Hair Hypoplasia |
|
Pectus carinatum, Narrow chest, Biconvex vertebral bodies, Abnormal form of the vertebral bodies,... |
ORPHA:175 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... |
OMIM:619608 |
| 15q26 overgrowth syndrome |
|
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... |
DECIPHER:81 |
| Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Abnormal heart valve morpholog... |
ORPHA:230851 |
| Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Atrial septal defect, Nephronophthisis |
OMIM:608629 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent... |
OMIM:300166 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs |
OMIM:617405 |
| Microcephaly-Capillary Malformation Syndrome |
|
Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Rig... |
OMIM:614261 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Thoracic hemivertebrae, Bicuspid aortic valve, Atrial septal defect, Scol... |
OMIM:619721 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Short neck, Hemivertebrae, Abnormal rib morphology, Hypopl... |
ORPHA:2234 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Enlarged kidney, Nephroblastoma |
ORPHA:276280 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... |
ORPHA:731 |
| Histiocytoid Cardiomyopathy |
|
Stroke-like episode, Cyanosis, Ventricular septal defect, Cardiomegaly, Renal cyst, Pulmonary ede... |
ORPHA:137675 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pectus carinatum, Recurrent pneumonia, Cholelithiasis, Male urethral meatus stenosis, Ventricular... |
ORPHA:464738 |
| Spondylo-Ocular Syndrome |
|
Platyspondyly, Ventricular septal defect, Short neck, Abnormal intervertebral disk morphology, Th... |
ORPHA:85194 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
| Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Kyphosis, Recurrent urinary tract infections, Sacral dimple, Vesicoureteral... |
OMIM:610443 |
| Noonan Syndrome 5 |
|
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Short neck, Atrial septal defect, Pulmo... |
OMIM:611553 |
| Ciliary Dyskinesia, Primary, 26 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... |
OMIM:615500 |
| 3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Coronary artery atherosclerosis, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:435638 |
| Mosaic Trisomy 20 |
|
Narrow chest, Spinal canal stenosis, Horseshoe kidney, Abnormal mitral valve morphology, Dysplast... |
ORPHA:1724 |
| Cardiofacioneurodevelopmental Syndrome |
|
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Asplenia, Kyp... |
OMIM:619123 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Lateral clavicle hook, Tetralogy of Fallot, Absent gallbladder, Complete atrioventr... |
OMIM:617925 |
| Caroli Disease |
|
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly |
ORPHA:53035 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... |
ORPHA:449395 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Platyspondyly, Pectus carinatum, Increased vertebral height, Vesicoureteral reflux, Ventricular s... |
OMIM:620663 |
| 19P13.12 Microdeletion Syndrome |
|
Hypospadias, Hepatic steatosis, Ventricular septal defect, Short neck, Atrial septal defect, Scol... |
ORPHA:254346 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Medial calcification of large arteries, Pancreatic calcification, Corona... |
ORPHA:51608 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... |
ORPHA:2973 |
| Nager Syndrome |
|
Unilateral renal agenesis |
ORPHA:245 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoplastic spleen, Cutaneous photose... |
ORPHA:699 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Proteinuria, Renal hypoplasia, Renal insufficiency |
ORPHA:1307 |
| Mucolipidosis Iii Alpha/Beta |
|
Cardiomyopathy, Broad ribs, Spondylolisthesis, Short ribs, Mucopolysacchariduria, Hepatomegaly, S... |
OMIM:252600 |
| Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Pectus carinatum, Recurrent upper respiratory tract infections, Hypoplasia of the odon... |
OMIM:253200 |
| Craniofacial Dyssynostosis With Short Stature |
|
Horseshoe kidney, Hypospadias, Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... |
OMIM:601927 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... |
OMIM:184400 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst |
OMIM:617100 |
| Gm1 Gangliosidosis Type 1 |
|
Platyspondyly, Pectus carinatum, Cardiomyopathy, Cherry red spot of the macula, Beaking of verteb... |
ORPHA:79255 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal clavicle morpholo... |
ORPHA:628 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode |
OMIM:610992 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Kyphosis, Scoliosis, Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... |
ORPHA:2248 |
| Greenberg Dysplasia |
|
Fractured rib, Supernumerary vertebral ossification centers, Hepatosplenomegaly, Barrel-shaped ch... |
OMIM:215140 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Unilateral renal agenesis, Scoliosis |
OMIM:618419 |
| Fraser Syndrome 1 |
|
Renal hypoplasia, Aplasia/Hypoplasia of the sternum, Abnormal heart morphology, Renal hypoplasia/... |
OMIM:219000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Dilatation of the renal pelvis, Hepatosplenomegaly, Ventricular septal defect, Atrial septal defe... |
OMIM:274000 |
| Focal Dermal Hypoplasia |
|
Erythema, Multicystic kidney dysplasia, Horseshoe kidney, Acute hepatic failure, Renal hypoplasia... |
ORPHA:2092 |
| Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Absent gallbladder, Barrel-shaped chest, Ventricular septal defect, Hydr... |
OMIM:300712 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308700 |
| Stevenson-Carey Syndrome |
|
Scoliosis, Atrial septal defect, Left superior vena cava draining to coronary sinus, Recurrent ur... |
OMIM:611961 |
| Bor Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... |
ORPHA:107 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Horseshoe kidney, Atrioventricular canal defect, Horizontal ribs, Splenomegaly, Sho... |
OMIM:617088 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Noonan Syndrome 3 |
|
Pectus carinatum, Juvenile myelomonocytic leukemia, Bruising susceptibility, Hypertrophic cardiom... |
OMIM:609942 |
| Renal And Mullerian Duct Hypoplasia |
|
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia |
OMIM:266810 |
| Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Scoliosis, Atrial septal defect, Pulmonic stenosis |
OMIM:618205 |
| Gm1 Gangliosidosis |
|
Platyspondyly, Kyphosis, Abnormal form of the vertebral bodies, Cardiomyopathy, Cherry red spot o... |
ORPHA:354 |
| Kapur-Toriello Syndrome |
|
Abnormality of the urinary system, Ventricular septal defect, Short neck, Atrial septal defect, M... |
OMIM:244300 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Thoracolumbar kyphosis, Narrow chest, Thoracic hypoplasia, Disc-like vertebral bodies,... |
OMIM:151210 |
| Lymphatic Malformation 6 |
|
Chylothorax, Intestinal lymphangiectasia, Pleural effusion, Splenomegaly, Atrial septal defect, V... |
OMIM:616843 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
| Zaki Syndrome |
|
Renal agenesis, Patent foramen ovale, Hydronephrosis, Scoliosis, Patent ductus arteriosus, Sacral... |
OMIM:619648 |
| Meckel Syndrome 12 |
|
Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis |
OMIM:616258 |
| High Altitude Pulmonary Edema |
|
Pulmonary edema, Hypoxemia, Leukocytosis, Cyanosis |
ORPHA:330012 |
| Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Coarctation of aorta, Abnormal rib morphology |
ORPHA:280195 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Butterfly vertebrae, Patent fo... |
OMIM:607143 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Hypoplastic aortic arch, Scoliosis, Pectus excavatum |
ORPHA:457284 |
| Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias |
OMIM:600057 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Cyanosis |
ORPHA:621 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Thoracic scoliosis, Cardiomegaly, Pulmonary edema, Left ventricular hypertrop... |
ORPHA:79330 |
| Otopalatodigital Syndrome Type 2 |
|
Pulmonary hypoplasia, Narrow chest, Abnormal heart valve morphology, Ureteral obstruction, Hydron... |
ORPHA:90652 |
| Orofaciodigital Syndrome Xiv |
|
Unilateral renal hypoplasia, Ventricular septal defect, Short ribs, Aplasia of the epiglottis, At... |
OMIM:615948 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Decreased liver function, Elevated circulating aspartate aminotran... |
OMIM:608779 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
| Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Hypospadias, Horseshoe kidney, Abnormal rib morphology, Scoliosis |
ORPHA:2319 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Greig Cephalopolysyndactyly Syndrome |
|
Abnormal heart morphology, Hypospadias, Atrial septal defect |
OMIM:175700 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Ventricular septal defect, Narrow vertebral interpedicular distance, Short neck... |
OMIM:620073 |
| Waardenburg Syndrome, Type 1 |
|
Supernumerary ribs, Sprengel anomaly, Supernumerary vertebrae, Premature graying of hair |
OMIM:193500 |
| Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Cutaneous photosensitivity, Sprengel anomaly, Hemivertebra... |
ORPHA:2180 |
| H Syndrome |
|
Micropenis, Hepatosplenomegaly, Enlarged kidney, Abnormality of the kidney |
ORPHA:168569 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2097 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Cyanosis, Pneumothorax, Neutrophilia, Hypoxemia |
ORPHA:1302 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Renal... |
ORPHA:805 |
| Sepsis In Premature Infants |
|
Oliguria, Decreased liver function, Reversible renal failure, Splenomegaly, Leukocytosis, Petechi... |
ORPHA:90051 |
| Insulin-Like Growth Factor I, Resistance To |
|
Abnormal rib cage morphology, Reduced subcutaneous adipose tissue, Patent foramen ovale, Ventricu... |
OMIM:270450 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, 11 pairs of ribs, Patent foramen ovale, Atrial septal defect, Scoliosis |
OMIM:619184 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Narrow chest, Short ribs, Short neck, Atrial septal defect, Micropenis, Polycy... |
OMIM:616546 |
| Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Absence of the pulmonary valve, Ventricular septal defect, Dysplastic pulm... |
OMIM:601808 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Ventricular septal defect, Shor... |
ORPHA:124 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Secundum atrial septal defect, Cholestasis, Hepatic steatosis, Coarctation of ao... |
OMIM:614300 |
| Chromosome 10Q26 Deletion Syndrome |
|
Lumbar hyperlordosis, Vesicoureteral reflux, Short neck, Atrial septal defect, Scapular winging, ... |
OMIM:609625 |
| Kury-Isidor Syndrome |
|
Ventricular septal defect, Hydronephrosis, Short neck, Scoliosis, Sacral dimple |
OMIM:619762 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Exocrine pancreatic insufficiency, Hypoplasia of penis, Patent ductus arteriosus, Ventricular sep... |
ORPHA:452 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Short neck, Hepatoblastoma, Atrial septa... |
ORPHA:373 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis |
ORPHA:1064 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Ventricular septal defect, Short neck, Thoracolumbar scoliosis, Pectus excav... |
OMIM:300472 |
| Myopathy With Extrapyramidal Signs |
|
Elevated circulating hepatic transaminase concentration, Leukocytosis, Splenomegaly, Ventricular ... |
OMIM:615673 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys |
OMIM:612651 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Bruising susceptibility, Stroke-like episode, Hematuria, Subarachnoid hemorr... |
OMIM:185070 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Chylothorax, Renal agenesis, Abnormal form of the vertebral bodies,... |
ORPHA:3015 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect |
OMIM:212090 |
| 7Q31 Microdeletion Syndrome |
|
Enuresis nocturna, Galactosuria, Atrial septal defect, Patent ductus arteriosus after birth at te... |
ORPHA:251061 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Pectus carinatum, Mitral valve prolapse, Hyperlordosis, Atrial septal defect, Scoliosis |
OMIM:300986 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... |
OMIM:619371 |
| Achondrogenesis Type 1A |
|
Narrow chest, Multiple rib fractures, Short neck, Aplasia/Hypoplasia of the lungs, Short thorax |
ORPHA:93299 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... |
OMIM:265120 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis, Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620327 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs, Atelectasis, Glandular hypospadias, Penile hypospadias, Neonatal death, Micropenis, Hy... |
OMIM:300219 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Missing ribs, Hemivertebrae, Abnormal rib morphology, Recu... |
ORPHA:2759 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Atrial septal defect, Patent foramen ovale, Kyphoscoliosis |
OMIM:620075 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Multiple muscular ventricular septal defects, Aortic aneurysm, Atrial septal defect, Urinary inco... |
OMIM:620070 |
| Alazami Syndrome |
|
Cutis marmorata, Scoliosis, Atrial septal defect |
ORPHA:319671 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
| 16P12.1P12.3 Triplication Syndrome |
|
Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnormal tricuspid valve m... |
ORPHA:485405 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Peters-Plus Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Hydronephrosis, Biliary tract abnormality, Short nec... |
OMIM:261540 |
| Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... |
OMIM:615009 |
| Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Restrictive cardiomyopathy, Renal dysplasia,... |
ORPHA:369837 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Paten... |
ORPHA:26793 |
| Mucopolysaccharidosis Type 3 |
|
Recurrent tonsillitis, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Aspir... |
ORPHA:581 |
| Tetrasomy 5P |
|
Cyanosis, Short neck, Pectus excavatum, Recurrent respiratory infections, Pulmonary hypoplasia |
ORPHA:3309 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Renal agenesis, Leukemia, Bruising susceptibility, Horseshoe kidney,... |
OMIM:227645 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Scoliosis, Kyphosis |
OMIM:259440 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme... |
OMIM:616028 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... |
OMIM:614921 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia, Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:1486 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Penile hypospadias, Ventricular septal defect, Thoracic scoliosis, Renal cy... |
ORPHA:1692 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Pulmonary hypoplasia, Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia... |
OMIM:612528 |
| Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Secundum atrial septal defect, Leukocyte inclusion bodies |
OMIM:223350 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Short neck, Hypoplasia of penis, Patent ductus ar... |
ORPHA:2328 |
| Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Abnormal lung lo... |
ORPHA:958 |
| Caudal Regression Syndrome |
|
Pulmonary hypoplasia, Renal agenesis, Aplasia/Hypoplasia of the sacrum, Abnormality of the ureter... |
ORPHA:3027 |
| Smith-Lemli-Opitz Syndrome |
|
Multicystic kidney dysplasia, Cutis marmorata, Renal hypoplasia/aplasia, Ventricular septal defec... |
ORPHA:818 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Congenital pulmonary airway malformation, Renal agenesis, Bilateral lu... |
OMIM:611812 |
| Pelger-Huet Anomaly |
|
Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Neutropenia, T... |
OMIM:169400 |
| Stromme Syndrome |
|
Hydronephrosis, Accessory spleen, Bilateral renal hypoplasia, Stillbirth |
OMIM:243605 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
| Sotos Syndrome |
|
Muscular ventricular septal defect, Ventricular septal defect, Atrial septal defect, Abnormality ... |
OMIM:117550 |
| Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia |
OMIM:612527 |
| Loeys-Dietz Syndrome 5 |
|
Pectus carinatum, Aortic root aneurysm, Bruising susceptibility, Spondylolisthesis, Patent forame... |
OMIM:615582 |
| Mucopolysaccharidosis, Type Iiid |
|
Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Splenomegaly, T... |
OMIM:252940 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Short neck, Pectus excavatum, Scoliosis, Patent ductus arteriosus |
ORPHA:52055 |
| C Syndrome |
|
Fused sternal ossification centers, Renal cortical cysts, Ventricular septal defect, Hepatomegaly... |
OMIM:211750 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal heart morphology, Atrioventricular canal defect, Vesicoureteral reflux, Pleural effusion... |
ORPHA:453499 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent r... |
OMIM:608647 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... |
ORPHA:1457 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microphallus... |
ORPHA:468631 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac... |
OMIM:200600 |
| Acrorenal-Mandibular Syndrome |
|
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder |
OMIM:200980 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Recurrent aspiration pneumonia, Abnormal medullary pyramid morphology, Ventricular septal defect |
ORPHA:79243 |
| Ritscher-Schinzel Syndrome 2 |
|
Pulmonary artery hypoplasia, Ventricular septal defect, Atrial septal defect, Scoliosis, Patent d... |
OMIM:300963 |
| Proboscis Lateralis |
|
Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, Ventricular septal def... |
ORPHA:141099 |
| Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary artery dilatation, Cyanosis, Left atrial enlargement, Left ventricular hypertrophy, Rig... |
ORPHA:99106 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
| Distal Deletion 10Q |
|
Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Lumbar hyperlordosi... |
ORPHA:96148 |
| Cardioacrofacial Dysplasia 2 |
|
Narrow chest, Atrioventricular canal defect, Long thorax, Left superior vena cava draining to cor... |
OMIM:619143 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Thin ribs, Renal hypoplasia, Short ribs, Short sternum, Short neck, Ov... |
ORPHA:3404 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Ventricular septal defect, Short neck, Atrial septal defect, Scoliosis, Sacral dimple |
ORPHA:505237 |
| Coffin-Siris Syndrome |
|
Recurrent upper respiratory tract infections, Aspiration pneumonia, Horseshoe kidney, Abnormal he... |
ORPHA:1465 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... |
OMIM:613550 |
| Oculoauriculofrontonasal Syndrome |
|
Scoliosis, Ventricular septal defect |
ORPHA:398156 |
| Orofaciodigital Syndrome I |
|
Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:311200 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Elevated circulatin... |
ORPHA:416 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Hepatic steatosis, Ventricular septal defect, Elevated circulating alanine ami... |
OMIM:619525 |
| Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Perimembranous ventricular septal defect, Short neck, Atrial septal de... |
OMIM:158170 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent respiratory infections... |
OMIM:613808 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Hyperlordosis, Ventricular septal defect |
OMIM:617450 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:3405 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
| Zechi-Ceide Syndrome |
|
Abnormal heart morphology, Atrial septal defect |
ORPHA:217017 |
| 20Q13.33 Microdeletion Syndrome |
|
Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Atrial septal defect, Hy... |
ORPHA:261311 |
| Jacobsen Syndrome |
|
Annular pancreas, Ventricular septal defect, Missing ribs, Short neck, Atrial septal defect, Thro... |
OMIM:147791 |
| Distal Deletion 12Q |
|
Congenital hypertrophy of left ventricle, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, ... |
ORPHA:96149 |
| Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:620197 |
| Rere-Related Neurodevelopmental Syndrome |
|
Abnormal heart morphology, Vesicoureteral reflux, Ventricular septal defect, Scoliosis, Hypospadias |
ORPHA:494344 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Recurrent lower respiratory tract infections, Pectus carinatum, Secundum atrial septal defect |
OMIM:620194 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Short neck, Cyanotic episode |
ORPHA:284417 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs |
OMIM:122860 |
| Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
| Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Megacystis, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal ... |
ORPHA:209905 |
| Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... |
OMIM:613834 |
| Lateral Meningocele Syndrome |
|
Kyphosis, Biconcave vertebral bodies, Ventricular septal defect, Bicuspid aortic valve, Aortic an... |
OMIM:130720 |
| Loeys-Dietz Syndrome 2 |
|
Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr... |
OMIM:610168 |
| Cardiomyopathy, Dilated, 2J |
|
Dilated cardiomyopathy, Secundum atrial septal defect |
OMIM:620635 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Pectus carinatum, Short neck, Abnormal rib morphology, Hypoplasia of penis, Kyphosis |
ORPHA:3082 |
| Buratti-Harel Syndrome |
|
Recurrent pneumonia, Hypospadias, Atrial septal defect, Dilation of Virchow-Robin spaces |
OMIM:619314 |
| Tatton-Brown-Rahman Syndrome |
|
Aortic root aneurysm, Kyphoscoliosis, Atrial septal defect, Myeloid leukemia, Patent ductus arter... |
ORPHA:404443 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia |
OMIM:607361 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Leukemia, Nephroblastoma, Renal cyst, Short neck, Short sternum, At... |
OMIM:257300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatic failure, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, 3-hydroxydi... |
OMIM:252010 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... |
OMIM:614935 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Spinal rigidity, Pectus carinatum, Cyanosis, Kyphoscoliosis, Recurrent respiratory infections, Ne... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Spinal rigidity, Pectus carinatum, Cyanosis, Kyphoscoliosis, Recurrent respiratory infections, Ne... |
ORPHA:590 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis, Recurrent pneumonia, Scoliosis, Patent foramen ovale |
OMIM:619179 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Polycystic ovarie... |
ORPHA:79259 |
| Acrocardiofacial Syndrome |
|
Tetralogy of Fallot, Mitral stenosis, Ventricular septal defect, Truncus arteriosus, Coarctation ... |
ORPHA:2008 |
| Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Ventricular septal defect |
OMIM:209770 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Bruising susceptibility, Abnormal pulmonary valve morphology, Splenomegaly, Pulmona... |
ORPHA:667 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect |
ORPHA:93946 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Abnormal renal artery morphology, Hepatic cysts, Hydronephrosis, Hepat... |
ORPHA:79328 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... |
OMIM:619418 |
| Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia |
OMIM:202650 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Narrow chest, Elevated circulating hepatic transaminase concentration, Abnormal form o... |
ORPHA:73230 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Renal hypoplasia, Narrow chest, Absent or minimally ossified vertebral bodies, Congenital hepatic... |
ORPHA:93271 |
| 3M Syndrome |
|
Thin ribs, Abnormal cerebral vascular morphology, Increased vertebral height, Horizontal ribs, Sh... |
ORPHA:2616 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Atrial septal defect |
OMIM:620247 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Peripheral pulmonary artery stenosis, Hypoplasia of the bladder, Hydroureter, Valvular pulmonary ... |
OMIM:300707 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Arterial stenosis, Stroke, Atrial septal defect, Vascular ... |
ORPHA:2637 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating aspartate aminotransf... |
OMIM:620609 |
| Kleefstra Syndrome |
|
Recurrent respiratory infections, Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficiency... |
ORPHA:261494 |
| Buerger Disease |
|
Vasculitis, Livedo reticularis, Acrocyanosis |
ORPHA:36258 |
| Intellectual Disability-Strabismus Syndrome |
|
Medullary nephrocalcinosis, Short neck, Atrial septal defect, Micropenis, Hypospadias, Patent duc... |
ORPHA:363528 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
| Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Recurrent urinary tract infections, Ventricular septal defect, Atria... |
OMIM:616777 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal corticomedullary cy... |
OMIM:219730 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Bell-shaped thorax, Ventricular septal defect, Hydronephrosis, Intrahepatic biliar... |
OMIM:214100 |
| Opitz Gbbb Syndrome |
|
Abnormality of the urinary system, Aortic root aneurysm, Abnormal heart morphology, Vesicouretera... |
ORPHA:2745 |
| Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cerebral vasculitis, Cutis m... |
ORPHA:48435 |
| Diphallia |
|
Penoscrotal transposition, Bladder exstrophy, Horseshoe kidney, Abnormal heart morphology, Distal... |
ORPHA:227 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hydroureter, Ureteral stenosis, Broad ribs, Hypoplasia of first ribs, Hydronephrosis, Short stern... |
OMIM:269150 |
| Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis, Pectus excavatum |
ORPHA:2673 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Broad ribs, Splenomegaly, Flaring of rib cage, Neutrophilia, Hepatomegaly, Pulmonary fibrosis, Fu... |
OMIM:612852 |
| Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Atrial septal defect, Intercostal muscle weakness, Recurr... |
ORPHA:70 |
| Meckel Syndrome, Type 10 |
|
Micropenis, Renal cyst, Hypospadias |
OMIM:614175 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, 11 pairs o... |
OMIM:620025 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent foramen ovale, Ventricular septal defect, Short sternum, Pulmonary artery atresia, Patent ... |
OMIM:620113 |
| Down Syndrome |
|
Atlantoaxial instability, Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventr... |
OMIM:190685 |
| Frontometaphyseal Dysplasia 1 |
|
Cor pulmonale, Hydroureter, Mitral valve prolapse, Hydronephrosis, Cervical C2/C3 vertebral fusio... |
OMIM:305620 |
| Coffin-Siris Syndrome 7 |
|
Bicuspid aortic valve, Pectus excavatum, Patent foramen ovale, Ventricular septal defect |
OMIM:618027 |
| Keutel Syndrome |
|
Pulmonary artery stenosis, Recurrent respiratory infections, Recurrent sinusitis, Ventricular sep... |
ORPHA:85202 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Lumbar scoliosis, Pulmonary artery s... |
OMIM:300998 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Vasculitis, Erythema, Peritonitis, Lymphadenopathy, Hepatomegaly, Acrocyanosis, Purpura, Urticaria |
ORPHA:343 |
| Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney |
ORPHA:500095 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect |
ORPHA:1908 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Hydronephrosis, Atrial septal defect, Recurrent respiratory infections, Scoliosi... |
OMIM:300968 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Abnormal heart morphology, Short neck, Patent foramen ovale, Ventricular septal defect |
ORPHA:369891 |
| Al Kaissi Syndrome |
|
Hemivertebrae, Atrial septal defect, Sacral dimple |
OMIM:617694 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Pectus carinatum, Cervical spinal canal stenosis, Spondylolisthesis, Barrel-shaped chest, Ventric... |
OMIM:178110 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Peripheral pulmonary artery stenosis, Hypospadias, Atrial septal defect, Thoracolumbar scoliosis |
ORPHA:436003 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... |
OMIM:277000 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent p... |
OMIM:613177 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
| Mucolipidosis Ii Alpha/Beta |
|
Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney |
OMIM:252500 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Platyspondyly, Pectus carinatum, Narrow chest, Aortic root aneurysm, 11 pairs of ribs, Mitral val... |
OMIM:245600 |
| Thoracolaryngopelvic Dysplasia |
|
Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir... |
OMIM:187760 |
| Lymphatic Malformation 7 |
|
Chylothorax, Pleural effusion, Pulmonary edema, Anemia, Atrial septal defect, Varicose veins, Per... |
OMIM:617300 |
| Caroli Syndrome |
|
Hepatomegaly, Polycystic kidney dysplasia, Abnormality of the kidney |
ORPHA:480520 |
| Cardiofaciocutaneous Syndrome 1 |
|
Pectus carinatum, Hypertrophic cardiomyopathy, Splenomegaly, Hydronephrosis, Short neck, Atrial s... |
OMIM:115150 |
| Meier-Gorlin Syndrome 7 |
|
Vesicoureteral reflux, Complete atrioventricular canal defect, Ventricular septal defect, Urethra... |
OMIM:617063 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Hypospadias, Atrial septal defect |
OMIM:618109 |
| Noonan Syndrome 1 |
|
Chylothorax, Juvenile myelomonocytic leukemia, Abnormal sternum morphology, Bruising susceptibili... |
OMIM:163950 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Pectus carinatum, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardio... |
OMIM:617506 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Poor wound healing, Mitral valve prolapse |
OMIM:615539 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, Patent ductus arteriosus, Pu... |
OMIM:616866 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Abnormal lung lobation, Missing ribs, Aplasia/Hypoplasia of the lun... |
ORPHA:3301 |
| Fibrochondrogenesis 2 |
|
Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs |
OMIM:614524 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Thrombocytopenia, Partial atrioventricular canal defect, Cyanosis, Decreased liver function |
OMIM:620423 |
| Methimazole Embryofetopathy |
|
Coarctation of aorta, Hypospadias, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:1923 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Lumbar hemivertebrae, Thin ribs, Cardiomegaly, Abnormal thymus morphology, Pectus excavatum, Muco... |
ORPHA:2463 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Vertebral segmentation defect, Ventricular septal defect, Pectus excavatum, Scoliosis, Pulmonary ... |
OMIM:612530 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Abnormality of the kidney, Tubulointerstitial nephri... |
ORPHA:459061 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy |
OMIM:602579 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Methemoglobinemia, Micropenis, Hypospadias, Scrotal hypospadias |
OMIM:250790 |
| Familial Dysautonomia |
|
Abnormal pleura morphology, Renal insufficiency, Acrocyanosis, Glomerulopathy, Abnormality of the... |
ORPHA:1764 |
| Ogden Syndrome |
|
Facial wrinkling, Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve, Short neck, ... |
OMIM:300855 |
| Trichohepatoenteric Syndrome 1 |
|
Galactosuria, Hepatic fibrosis, Hepatic failure, Tetralogy of Fallot, Cholestasis, Splenomegaly, ... |
OMIM:222470 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:612518 |
| Duplication Of Urethra |
|
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... |
ORPHA:237 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:457279 |
| Mucolipidosis Type Ii |
|
Narrow chest, Cardiomyopathy, Restricted chest movement, Hepatosplenomegaly, Splenomegaly, Abnorm... |
ORPHA:576 |
| Coccidioidomycosis |
|
Pneumonia, Vasculitis, Abnormality of the vertebral column, Exudative pleural effusion, Broad rib... |
ORPHA:228123 |
| Fg Syndrome Type 1 |
|
Abnormal sternum morphology, Facial wrinkling, Mitral valve prolapse, Coarctation of aorta, Atria... |
ORPHA:93932 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... |
OMIM:619991 |
| Teebi Hypertelorism Syndrome 1 |
|
Pulmonary hypoplasia, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
| Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology, Varicose veins |
ORPHA:97330 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, HbH hemoglobin, Ventricular septal defect, Hydronephrosis, Kyphoscoliosis, Perime... |
OMIM:301040 |
| Mgat2-Cdg |
|
Kyphosis, Abnormal heart morphology, Ventricular septal defect, Impaired lymphocyte transformatio... |
ORPHA:79329 |
| Frank-Ter Haar Syndrome |
|
Broad clavicles, Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect,... |
OMIM:249420 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hepatic failure, Ventricular septal defect, Hydronephrosis, Hepatom... |
ORPHA:912 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... |
OMIM:610910 |
| Fanconi Anemia, Complementation Group A |
|
Renal agenesis, Leukemia, Bruising susceptibility, Horseshoe kidney, Abnormal heart morphology, P... |
OMIM:227650 |
| Immunodeficiency 87 And Autoimmunity |
|
Cervical lymphadenopathy, Hepatic failure, Dilated cardiomyopathy, Biventricular hypertrophy, Atr... |
OMIM:619573 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Bruising susceptibility, Atrial septal defect, Pectus excavatum, Patent ductus ... |
OMIM:618162 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... |
ORPHA:1880 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Scoliosis, Ventricular septal defect |
OMIM:617635 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Bladder trabeculation, Atrial septal defe... |
OMIM:614080 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Recurrent upper respiratory tract infections, Vesicoureteral reflux, Ventricular septal defect |
ORPHA:3078 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal vertebral morphology, Recurrent upper respiratory tract infections, Cardiomyopathy, Spin... |
ORPHA:217085 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Asplenia, Bronchiectasis |
OMIM:244400 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Cutis marmorata, Ventricular septal defect, Short neck, Patent ductu... |
OMIM:612938 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Hypoplastic left heart, Pectus carinatum, Pulmonary artery atresia, Mitral... |
OMIM:618164 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Ventricular septal defect, Renal hypoplasia/aplasia |
ORPHA:1770 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,... |
ORPHA:116 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia, Transient ischemic attack, Cyanosis, Abnormal mitral valve morphology, Stroke, Right a... |
ORPHA:99103 |
| Osteogenesis Imperfecta, Type X |
|
Thin ribs, Platyspondyly, Recurrent pneumonia, Narrow chest, Thoracic hypoplasia, Broad ribs, Nep... |
OMIM:613848 |
| Fanconi Anemia, Complementation Group E |
|
Renal agenesis, Leukemia, Bruising susceptibility, Abnormal heart morphology, Horseshoe kidney, P... |
OMIM:600901 |
| Larsen Syndrome |
|
Pectus carinatum, Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Ventricular s... |
OMIM:150250 |
| Down Syndrome |
|
Atlantoaxial dislocation, Secundum atrial septal defect, Polycythemia, Tetralogy of Fallot, Atrio... |
ORPHA:870 |
| Phakomatosis Pigmentokeratotica |
|
Scoliosis, Unilateral renal hypoplasia, Renal transitional cell carcinoma, Nephroblastoma |
ORPHA:2874 |
| Monosomy 18Q |
|
Aortic valve stenosis, Secundum atrial septal defect, Pulmonary valve defects, Absence of the pul... |
ORPHA:1600 |
| Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, Atrial septal defect |
OMIM:618354 |
| Townes-Brocks Syndrome 1 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Tetralogy of Fallot, Renal insufficiency, Vesicou... |
OMIM:107480 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Osteogenesis Imperfecta |
|
Thin ribs, Aortic root aneurysm, Enlarged vertebral pedicles, Mitral valve prolapse, Pectus carin... |
ORPHA:666 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Scoliosis, Patent foramen ovale, Ventricular septal defect |
OMIM:614961 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis, Ventricular septa... |
OMIM:277600 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Splenomegaly, Polycystic ki... |
OMIM:249000 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Proteinuria, Tubulointerstitial nephritis, Ventricular septal defect |
OMIM:616901 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal vertebral morphology, Recurrent upper respiratory tract infections, Cardiomyopathy, Spin... |
ORPHA:217093 |
| Dysosteosclerosis |
|
Platyspondyly, Irregular vertebral endplates, Hypoplastic vertebral bodies, Ventricular septal de... |
ORPHA:1782 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Pectus excavatum, Coronary-pulmonary artery fistula, Patent foramen ovale |
OMIM:619699 |
| Hand-Foot-Genital Syndrome |
|
Abnormality of the urethra, Recurrent urinary tract infections, Vesicoureteral reflux, Ureteropel... |
ORPHA:2438 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Scoliosis, Ventricular septal defect |
OMIM:601357 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral wedging, Abnormal sternum morphology, Cardiac rhabdomyoma, Cardiac fibroma, Short ribs,... |
OMIM:109400 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Biventricular hypertrophy, Patent foramen ovale, Ventricular septal defect, Nephrolithiasis, Left... |
OMIM:615474 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Cutis marmorata, Ventricular septal defect, Bicuspid aortic valve, Short neck, Atria... |
OMIM:610759 |
| Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Excessive wrinkled skin, Hydronephr... |
ORPHA:1340 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect... |
ORPHA:2209 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Ventricular septal defect |
ORPHA:2143 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Congenital pulmonary airway malformation, Lymphopenia, Interface hepatitis, Autoimmune hemolytic ... |
OMIM:243150 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Ret... |
OMIM:615550 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Ectodermal dysplasia, Atrial septal defect, Hyp... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Ectodermal dysplasia, Atrial septal defect, Hyp... |
ORPHA:363958 |
| Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Pectus carinatum, Kyphosis, Hypoplastic 5th lumbar vertebrae, Mitral steno... |
ORPHA:955 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Pectus carinatum, Caudal appendage, Ureteral stenosis, Horseshoe kidney, V... |
OMIM:272950 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Renal cyst, Multicystic kidney dysplasia |
ORPHA:2031 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... |
OMIM:301111 |
| Restrictive Dermopathy 1 |
|
Increased anterioposterior diameter of thorax, Neonatal death, Kyphoscoliosis, Thin clavicles, Sh... |
OMIM:275210 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Tetralogy of Fallot, Vesi... |
ORPHA:163956 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Intervertebral di... |
OMIM:613795 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Abnormal renal collecting s... |
ORPHA:280633 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Lumbar hyperlordosis, Cupped ribs, Beaking of vertebral bodies, Scoliosis, Irregul... |
OMIM:609616 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Decreased glomerular filtration rate, Cyanosis, Proteinuria, Tubulointers... |
ORPHA:488627 |
| Unilateral Polymicrogyria |
|
Abnormal heart morphology, Stroke, Cyanosis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
| Orofaciodigital Syndrome V |
|
Horseshoe kidney, Tetralogy of Fallot, Ventricular septal defect, Recurrent respiratory infection... |
OMIM:174300 |
| Tetraamelia Syndrome 2 |
|
Micropenis, Bilateral lung agenesis, Hypoplastic pulmonary veins, Ventricular septal defect |
OMIM:618021 |
| Osteopathia Striata With Cranial Sclerosis |
|
Thoracolumbar kyphosis, Multicystic kidney dysplasia, Broad ribs, Ventricular septal defect, Atri... |
OMIM:300373 |
| Aicardi-Goutières Syndrome |
|
Elevated circulating hepatic transaminase concentration, Neonatal alloimmune thrombocytopenia, Mo... |
ORPHA:51 |
| Loeys-Dietz Syndrome 1 |
|
Descending thoracic aorta aneurysm, Pectus carinatum, Pulmonary artery aneurysm, Aortic root aneu... |
OMIM:609192 |
| Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Progeroid facial appearance, Atherosclerosis, Rib osteolysis, Left atrial enlargement,... |
OMIM:614008 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect, Vertebral segmentation defect |
ORPHA:1915 |
| Fanconi Anemia |
|
Arteriovenous malformation, Renal hypoplasia/aplasia, Atrial septal defect, Hypospadias, Patent d... |
ORPHA:84 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Kyphosis, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Short neck, Mic... |
OMIM:616894 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Abnormal rib morphology |
ORPHA:93351 |
| Cenani-Lenz Syndrome |
|
Abnormal form of the vertebral bodies, Crossed fused renal ectopia, Renal hypoplasia/aplasia, Abn... |
ORPHA:3258 |
| Lateral Meningocele Syndrome |
|
Abnormal form of the vertebral bodies, Ventricular septal defect, Short neck, Hyperlordosis, Pect... |
ORPHA:2789 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
| Bdv Syndrome |
|
Micropenis, Atrial septal defect |
OMIM:619326 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Platyspondyly, Abnormal rib cage morphology, 11 pairs of ribs, Ventricular septal defect, Kyphosc... |
OMIM:271640 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect |
ORPHA:521308 |
| Spondyloocular Syndrome |
|
Platyspondyly, Pectus carinatum, Mitral valve prolapse, Atrial septal defect, Shield chest, Dyspl... |
OMIM:605822 |
| Genitopatellar Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Atrial septal defect, Pulmonary hypoplasia |
ORPHA:85201 |
| 3Mc Syndrome 1 |
|
Caudal appendage, Ventricular septal defect, Hydronephrosis, Conjunctival telangiectasia, Atrial ... |
OMIM:257920 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| Ring Chromosome 12 Syndrome |
|
Glandular hypospadias, Pectus excavatum, Lumbar hyperlordosis, Secundum atrial septal defect |
ORPHA:1439 |
| Microphthalmia, Syndromic 1 |
|
Renal hypoplasia, Narrow chest, Hydroureter, Lumbar hyperlordosis, Renal hypoplasia/aplasia, Kyph... |
OMIM:309800 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Vesicoureteral reflux, Atrial septal defect |
OMIM:614749 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Hypoplasia of penis, Hyperlordosis, Abnormal rib morphology |
ORPHA:3068 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... |
ORPHA:2306 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Platyspondyly, Pneumonia, Recurrent pneumonia, Severe B lymphocytopenia, Lymphopenia, Splenomegal... |
OMIM:102700 |
| Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Multicystic kidney dysplasia, Bell-shaped thorax, Ventricular septal defect, K... |
ORPHA:1393 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia, Hypoxemia, Cyanosis |
ORPHA:464453 |
| Dyggve-Melchior-Clausen Disease |
|
Platyspondyly, Pectus carinatum, Recurrent upper respiratory tract infections, Hypoplasia of the ... |
ORPHA:239 |
| Restrictive Dermopathy 2 |
|
Short clavicles, Cyanosis |
OMIM:619793 |
| Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Thin ribs, Elevated circulating hepatic transaminase concentr... |
OMIM:619127 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Absent gallbladder, Ventricular septal defect, Hydronephrosis, Anemia, A... |
ORPHA:163979 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Hepatosplenomegaly, Ventricular ... |
ORPHA:96334 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ascending tubular aorta aneurysm, Pectus excavatum, Atrial septal defect, Ventricular septal defect |
OMIM:309520 |
| Severe Congenital Nemaline Myopathy |
|
Thin ribs, Abnormal thorax morphology, Micropenis, Hypospadias, Pulmonary hypoplasia |
ORPHA:171430 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Bone marrow hypocell... |
ORPHA:2308 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Scoliosis, Patent ductus arteriosus, Sacral dimple |
ORPHA:261279 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Thin ribs, Pulmonary hypoplasia, Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia,... |
ORPHA:83617 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Renal agenesis, Leukemia, Bruising susceptibility,... |
OMIM:227646 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs, Glandular hypospadias, Penile hypospadias, Penoscrotal hypospadias, Micropenis |
ORPHA:456328 |
| De Barsy Syndrome |
|
Progeroid facial appearance, Prominent veins on trunk, Excessive wrinkled skin, Ventricular septa... |
ORPHA:2962 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal heart morphology, Scoliosis, Kyphosis, Ventricular septal defect |
ORPHA:404440 |
| Bohring-Opitz Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect, Hyperechogenic pancreas, Atrial septal defect, ... |
OMIM:605039 |
| Roberts Syndrome |
|
Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Thoracic hypoplasia, Vesicoureteral reflux, Microvesicular hepatic steatosis, Bilateral fetal pye... |
OMIM:300868 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent left superior ... |
OMIM:618775 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Platyspondyly, Abnormal sternum morphology, Thoracic platyspondyly, Patent foramen ovale, Kyphosc... |
ORPHA:457395 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Foam cells, Hypoxemia |
ORPHA:747 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Telangiectasi... |
OMIM:187300 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Short sternum, Non-acidotic proximal tubulopathy, Ventricular septal defect |
OMIM:222448 |
| Myhre Syndrome |
|
Abnormal penis morphology, Platyspondyly, Abnormal cardiac septum morphology, Abnormal rib morpho... |
ORPHA:2588 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria |
OMIM:615398 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Broad ribs, Bell-shape... |
ORPHA:2021 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria |
ORPHA:445038 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Truncus arteriosus, Aortic aneurys... |
ORPHA:261330 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... |
ORPHA:99095 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent upper respiratory tract infections, Functional abnormality of the bladder, Hepatitis, M... |
ORPHA:391487 |
| Aortic Valve Disease 2 |
|
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... |
OMIM:614823 |
| Garg-Mishra Progeroid Syndrome |
|
Thin ribs, Platyspondyly, Narrow chest, Microvesicular hepatic steatosis, Ovoid vertebral bodies |
OMIM:620601 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Unilateral renal hypoplasia, Reduced subcutaneous adipose tissue, Excessive wrinkled skin, Short ... |
OMIM:619950 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Spina bifida occulta, Scoliosis, Atrial septal defect, Ventricular septal defect |
OMIM:617360 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Mitral valve prolapse, Dysplastic tricuspid valve, Patent ductus arteriosus, Dysplastic pulmonary... |
OMIM:612863 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Abnormal renal morphology, Narrow chest, Atrial septal defect |
OMIM:207410 |
| Trisomy 18 |
|
Ventricular septal defect, Hydronephrosis, Abnormality of the upper urinary tract, Atrial septal ... |
ORPHA:3380 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarged kidney |
ORPHA:508 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri... |
OMIM:612098 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Intracranial hemorrhage, Ventricular septal defect, Nephrolithiasis |
ORPHA:369929 |
| Meckel Syndrome, Type 6 |
|
Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder |
OMIM:612284 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Ventricular septal d... |
OMIM:619103 |
| Kabuki Syndrome 2 |
|
Horseshoe kidney, Atrioventricular canal defect, Coarctation of aorta, Atrial septal defect, Pulm... |
OMIM:300867 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Cutis marmorata, Ventricular septal defect |
OMIM:613398 |
| White-Sutton Syndrome |
|
Hypoplastic cervical vertebrae, Patent foramen ovale, Short neck, Atrial septal defect, Duplicate... |
OMIM:616364 |
| Ogden Syndrome |
|
Pulmonary artery stenosis, Scoliosis, Ventricular septal defect |
ORPHA:276432 |
| Alg12-Cdg |
|
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Biventricular hyper... |
ORPHA:79324 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Renal cyst, Ovarian dermoid cyst |
ORPHA:480536 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Renal cyst, Abnormal vena cava morphology, Ventricular septal defect |
ORPHA:166035 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Pat... |
OMIM:142900 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Pectus carinatum, Mitral valve prolapse, Supernumerary ribs, Aortic aneurysm, C1-C2 ve... |
OMIM:182212 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus, Recurrent respiratory infections |
ORPHA:1790 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... |
ORPHA:18 |
| Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Recurrent upper respiratory tract infections, Hypoplasia of the odontoi... |
OMIM:602535 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Viss Syndrome |
|
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... |
OMIM:619472 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections |
OMIM:615873 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Hydronephrosis, Vesicoureteral reflux, Thin ribs |
OMIM:618265 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Mi... |
OMIM:600460 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Abnormal lung lobation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic steno... |
OMIM:614114 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Mediastinal lymphadenopathy, Cyanosis |
ORPHA:91359 |
| Kawasaki Disease |
|
Vasculitis, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular septal de... |
ORPHA:2331 |
| Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Scoliosis, Patent ductus arteriosus, Sacral dimple |
OMIM:605130 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Abnormal vertebral morphology, Platyspondyly, Pulmonary hypoplasia, Congen... |
ORPHA:536471 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gastrointestinal angiodysplasia, Hepatic steatosis, Renal hypoplasia/aplasia, Bicuspid aortic val... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Gastrointestinal angiodysplasia, Hepatic steatosis, Renal hypoplasia/aplasia, Bicuspid aortic val... |
ORPHA:99228 |
| Monosomy X |
|
Gastrointestinal angiodysplasia, Hepatic steatosis, Renal hypoplasia/aplasia, Bicuspid aortic val... |
ORPHA:99226 |
| Turner Syndrome |
|
Gastrointestinal angiodysplasia, Hepatic steatosis, Renal hypoplasia/aplasia, Bicuspid aortic val... |
ORPHA:881 |
| Sweeney-Cox Syndrome |
|
Narrow chest, Patent foramen ovale, Short clavicles, Asplenia, Patent ductus arteriosus |
OMIM:617746 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal... |
ORPHA:363700 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:1836 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Interrupted aortic arch, Abnormal renal collecting system morphology, Elevated circulating hepati... |
ORPHA:17 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Multiple bladder diverticula, Atrial septal defect |
ORPHA:2728 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Renal cyst, Hyperoxaluria |
OMIM:601539 |
| Acquired Purpura Fulminans |
|
Hepatic failure, Macular purpura, Thrombocytopenia, Intracranial hemorrhage, Acrocyanosis |
ORPHA:49566 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Secundum atrial septal defect, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level |
OMIM:608688 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Cyanosis, Renal tubular dysfunction, Hematuria, Pulmonary edema, Decreased u... |
ORPHA:31826 |
| Kaufman Oculocerebrofacial Syndrome |
|
Bell-shaped thorax, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Ovoid ... |
OMIM:244450 |
| Distal Xq28 Microduplication Syndrome |
|
Recurrent upper respiratory tract infections, Patent ductus arteriosus, Patent foramen ovale |
ORPHA:293939 |
| Monosomy 9Q22.3 |
|
Abnormality of the vertebral column, Cardiac fibroma, Nephroblastoma, Short neck, Abnormal rib mo... |
ORPHA:77301 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Abnormal scapula morphology, Abnormal rib morphology, Myocarditis |
ORPHA:93317 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Carotid artery occlus... |
ORPHA:740 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatomegaly, Renal cyst, Dark urine |
ORPHA:79303 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Pneumonia, Abnormality of the urinary system, Vascular ring, Recurrent uri... |
ORPHA:353281 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Scoliosis, Secundum atrial septal defect |
OMIM:619121 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae, Ethylmalonic aciduria |
ORPHA:51188 |
| Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypertrophic cardiomyopathy, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Pneumothorax, A... |
OMIM:617403 |
| Trichohepatoneurodevelopmental Syndrome |
|
Narrow chest, Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Spleno... |
OMIM:618268 |
| 19P13.3 Microduplication Syndrome |
|
Kyphoscoliosis, Ventricular septal defect |
ORPHA:447980 |
| Lymphedema-Distichiasis Syndrome |
|
Chylothorax, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Varicose v... |
OMIM:153400 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae, Ethylmalonic aciduria |
OMIM:602473 |
| Osteogenesis Imperfecta, Type Xv |
|
Thin ribs, Platyspondyly, Scoliosis |
OMIM:615220 |
| Rubinstein-Taybi Syndrome 1 |
|
Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Leukemia, Hypospadias, Pa... |
OMIM:180849 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Vesicoureteral reflux, Patent foramen ovale, Recurrent respiratory infections, Scoliosis, Patent ... |
OMIM:618076 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, 11 pairs of ribs, Short ribs, Cupped ribs, Short neck, Atrial septal... |
OMIM:250220 |
| Congenital Myopathy 22B, Severe Fetal |
|
Thin ribs, Pulmonary hypoplasia, Shoulder flexion contracture, Thoracic hypoplasia, Pleural effus... |
OMIM:620369 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Bicuspid aortic valve, Dilation of Virchow-Robin spaces, Atrial septal defect |
OMIM:619720 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Cupped ribs, Kyphoscoliosis, Short ribs |
ORPHA:1145 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Abnormal sternum morphology, Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck, ... |
OMIM:607721 |
| 19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Hypospadias, Ventricular septal defect |
ORPHA:217346 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal agenesis, Horseshoe kidney, Mitral atresia, Vesicoureteral reflux, Renal insufficiency, Pul... |
ORPHA:140952 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Glomerular sclerosis, Scoliosis, Acrocyanosis, Abnormal r... |
OMIM:223900 |
| Mosaic Trisomy 8 |
|
Narrow chest, Vesicoureteral reflux, Vertebral segmentation defect, Hydronephrosis, Short neck, A... |
ORPHA:96061 |
| Schinzel-Giedion Syndrome |
|
Recurrent pneumonia, Abnormal clavicle morphology, Annular pancreas, Abnormal heart morphology, A... |
ORPHA:798 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Bruising susceptibility, Mitral valve prolapse, Ecchymosis, Hydronephrosis, Tricuspid valve prola... |
OMIM:601776 |
| Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures |
OMIM:166210 |
| Codas Syndrome |
|
Hypoplasia of the odontoid process, Atrioventricular canal defect, Ventricular septal defect, Lum... |
OMIM:600373 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Absent gallbladder, Vertebral segmentation defect, Renal hypoplasia/aplasia,... |
ORPHA:3186 |
| Sotos Syndrome |
|
Abnormal vertebral morphology, Small cell lung carcinoma, Ventricular septal defect, Atrial septa... |
ORPHA:821 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
| Mody |
|
Nephropathy, Renal cyst, Glycosuria, Abnormality of the kidney |
ORPHA:552 |
| Achondrogenesis, Type Ii |
|
Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Short ribs, Stillbirth |
OMIM:200610 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect |
OMIM:614526 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... |
ORPHA:93111 |
| Campomelic Dysplasia |
|
Thin ribs, Pectus carinatum, Recurrent upper respiratory tract infections, Cervical kyphosis, Hyp... |
OMIM:114290 |
| Coffin-Siris Syndrome 4 |
|
Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresia, Scolio... |
OMIM:614609 |
| Juvenile Polyposis Of Infancy |
|
Midclavicular hypoplasia, Subcutaneous lipoma, Abnormal heart morphology, Atrial septal defect, A... |
ORPHA:79076 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Turnpenny-Fry Syndrome |
|
Pectus carinatum, Narrow chest, Recurrent respiratory infections, Lumbar hyperlordosis, Carotid a... |
OMIM:618371 |
| Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:2004 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Nephrocalcinosis, Biventricular hypertrophy, Reduced subcutaneous adipose tissue, Mitral valve pr... |
OMIM:617402 |
| Monosomy 13Q34 |
|
Common atrium, Fetal pyelectasis, Hepatic steatosis, Pulmonic stenosis |
ORPHA:96168 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Narrow chest, Down-sloping shoulders, Short clavicles, Abnormal rib morphol... |
ORPHA:1452 |
| Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Thoracic hemivertebrae, Butterfly vertebrae, Patent foramen ovale, Ventri... |
OMIM:301043 |
| Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome |
|
Erythema, Left ventricular hypertrophy, Dilatation of the renal pelvis, Atrial septal defect |
OMIM:620510 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Cirrhosis, Polycythemia, Facial tel... |
OMIM:600376 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| Costello Syndrome |
|
Pectus carinatum, Hypertrophic cardiomyopathy, Renal insufficiency, Mitral valve prolapse, Ventri... |
OMIM:218040 |
| 16P13.11 Microdeletion Syndrome |
|
Pectus excavatum, Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
| Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Myhre Syndrome |
|
Aortic valve stenosis, Platyspondyly, Broad ribs, Enlarged vertebral pedicles, Ventricular septal... |
OMIM:139210 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Scoliosis, Atrial septal defect, Thrombocytopenia |
ORPHA:457351 |
| Specc1L-Related Hypertelorism Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pectus excavatum, Ectopic k... |
ORPHA:1519 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
| Three M Syndrome 2 |
|
Thin ribs, Pectus carinatum, Lumbar hyperlordosis, Short neck, Hyperlordosis, Scapular winging, S... |
OMIM:612921 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Abnormal rib cage morphology, Ventricular septal defect, Short neck, Pectus excavatum, Thoracolum... |
OMIM:212066 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Platyspondyly, Narrow vertebral interpedicular distance, Short neck, Scoliosis, Irregu... |
OMIM:618395 |
| Vici Syndrome |
|
Dilated cardiomyopathy, Cardiomyopathy, Lymphopenia, Leukopenia, Decreased proportion of CD4-posi... |
OMIM:242840 |
| Classical Ehlers-Danlos Syndrome |
|
Arterial dissection, Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Dilatatio... |
ORPHA:287 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... |
OMIM:620519 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma |
ORPHA:2869 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Arteria lusoria, Vesicoureteral reflux, Cutaneous photosensitivity, Patent foramen ovale, Hydrone... |
OMIM:618653 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Abnormal lung lobation, Abnormal aortic morphology, Nephroblastoma,... |
ORPHA:1052 |
| Oculoectodermal Syndrome |
|
Bladder exstrophy, Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, ... |
OMIM:600268 |
| Distal Deletion 15Q |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Multicystic kidney dysplasia, Double out... |
ORPHA:1596 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Platyspondyly, Hypoplasia of the odontoid process, Kyphoscoliosis, Short neck, Promine... |
OMIM:300232 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Total anomalous pulmonary venous return, Horseshoe kidney, Undulate ribs, Short clavicles, Short ... |
OMIM:609945 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... |
OMIM:616652 |
| Cystic Echinococcosis |
|
Hepatic cysts, Ovarian cyst, Renal cyst, Membranous nephropathy, Hepatomegaly |
ORPHA:400 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Stroke, Sinus venosus ... |
ORPHA:1478 |
| Fontaine Progeroid Syndrome |
|
Platyspondyly, Premature skin wrinkling, Abnormal heart morphology, Reduced subcutaneous adipose ... |
OMIM:612289 |
| Joubert Syndrome 14 |
|
Renal cyst, Intracranial hemorrhage, Ventricular septal defect |
OMIM:614424 |
| Laubry-Pezzi Syndrome |
|
Abnormal coronary artery morphology, Patent foramen ovale, Aortic valve prolapse, Ventricular sep... |
ORPHA:99094 |
| Pancreatic And Cerebellar Agenesis |
|
Pectus carinatum, Secundum atrial septal defect, Pancreatic hypoplasia, Reduced subcutaneous adip... |
OMIM:609069 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Short neck, Pulmon... |
ORPHA:3071 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Holoprosencephaly |
|
Abnormality of the urinary system, Abnormal form of the vertebral bodies, Tetralogy of Fallot, Ab... |
ORPHA:2162 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... |
OMIM:600740 |
| Short Stature-Micrognathia Syndrome |
|
Micropenis, Penoscrotal hypospadias, Ventricular septal defect |
OMIM:617164 |
| Antley-Bixler Syndrome |
|
Abnormal renal morphology, Narrow chest, Abnormal rib morphology |
ORPHA:83 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Rabson-Mendenhall Syndrome |
|
Nephrocalcinosis, Long penis, Cardiomyopathy, Premature graying of hair, Reduced subcutaneous adi... |
ORPHA:769 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
| Hamamy Syndrome |
|
Hypochromic anemia, Microcytic anemia, Complete atrioventricular canal defect, Down-sloping shoul... |
OMIM:611174 |
| Bardet-Biedl Syndrome 20 |
|
Elevated circulating hepatic transaminase concentration, Proteinuria, Pancreatitis, Atrial septal... |
OMIM:619471 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
| Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defe... |
OMIM:301030 |
| Myasthenia Gravis |
|
Hepatitis, Glycosuria, Abnormal thymus morphology, Pure red cell aplasia, Acrocyanosis, Hemolytic... |
ORPHA:589 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
| Lacrimoauriculodentodigital Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Scoliosis, Patent ductus arteriosus |
ORPHA:2363 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis, Ventricular septa... |
OMIM:608328 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Barrel-sha... |
OMIM:143095 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology |
ORPHA:1292 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| 2Q31.1 Microdeletion Syndrome |
|
Vertebral segmentation defect, Ventricular septal defect, Short neck, Atrial septal defect, Scoli... |
ORPHA:251014 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Increased mean corpuscular volume, Ventricular septal defect, Thrombocyto... |
ORPHA:261250 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Atrial septal defect, Micropenis, Recurrent respiratory infections, Scoliosis, Kyphosis |
ORPHA:398069 |
| Goodpasture Syndrome |
|
Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Pulm... |
OMIM:233450 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Scoliosis, Atrial septal defect |
OMIM:614207 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Tongue telangiectasia, Dilatation of mes... |
OMIM:610655 |
| Mycophenolate Mofetil Embryopathy |
|
Coarctation of aorta, Ectopic kidney, Bifid thoracic vertebrae, Ventricular septal defect |
ORPHA:268249 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anomalous origin of left subclavian artery, Aspiration pneumonia, Abnormal heart morphology, Vesi... |
ORPHA:438213 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,... |
OMIM:123700 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, 11 pairs of ribs, Platyspondyly |
OMIM:300863 |
| Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Mitral valve prolapse, Ventricular septal defect, Hydronephro... |
ORPHA:444072 |
| X Small Rings |
|
Aortic root aneurysm, Mitral stenosis, Ventricular septal defect, Bicuspid aortic valve, Short ne... |
ORPHA:96201 |
| Cohen Syndrome |
|
Mitral valve prolapse, Ventricular septal defect, Neutropenia, Pectus excavatum, Scoliosis, Kyphosis |
ORPHA:193 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent... |
OMIM:192430 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Cutis marmorata, Ventricular ... |
OMIM:100300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Kyphosis, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Right ve... |
OMIM:300967 |
| Occipital Horn Syndrome |
|
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Bruising susceptibility, Ureteral... |
OMIM:304150 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Short neck, Neurogenic bladder, Pectus excavatum, Sc... |
ORPHA:488632 |
| Phace Association |
|
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... |
OMIM:606519 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Lumbar hyperlordosis, Vesicoureteral reflux, Patent foramen ovale, Ventricular ... |
OMIM:616975 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Atelectasis, Retinal arterial tortuosity, Splenic cyst, Patent for... |
OMIM:620371 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Renal dysplasia, Patent foramen ovale, Short neck, Hypercalciuria, Elliptocytos... |
OMIM:300990 |
| Dermatomyositis |
|
Vasculitis, Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentrati... |
ORPHA:221 |
| Pseudoaminopterin Syndrome |
|
Sacrococcygeal pilonidal abnormality, Horseshoe kidney, Patent foramen ovale, Prominent sternum, ... |
ORPHA:221120 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
| Kabuki Syndrome 1 |
|
Abnormal vertebral morphology, Crossed fused renal ectopia, Hemolytic anemia, Ureteropelvic junct... |
OMIM:147920 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Anemia, Thrombocytopenia, Atrial septal defect, Sacral dimple |
ORPHA:261323 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
| Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology, Acrocyanosis |
ORPHA:3165 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Micropenis, Renal hypoplasia, Leukocytosis, Hepatic steatosis |
OMIM:619321 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Aortic root aneurysm, Aspiration pneumonia, Horseshoe kidney, Abno... |
ORPHA:444077 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Biconcave vertebral bodies, Ventricular septal defect, Kyphoscoliosis, Barrel-shap... |
OMIM:259770 |
| Neurocardiofaciodigital Syndrome |
|
Tetralogy of Fallot, Vesicoureteral reflux, Atrial septal defect, Double inlet left ventricle, Pa... |
OMIM:619869 |
| Lymphatic Malformation 13 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Neonatal death |
OMIM:620244 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short neck, Secundum atrial septal defect, Pulmonic stenosis |
OMIM:615802 |
| Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Chordee, Overriding aorta, Atrial septal ... |
OMIM:309801 |
| Distal Deletion 6P |
|
Scoliosis, Atrial septal defect, Vertebral segmentation defect |
ORPHA:96125 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
| Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Long clavicles, Anemia, Thin clavicles |
OMIM:244460 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Mitral valve prolapse, Vent... |
OMIM:617107 |
| Alzahrani-Kuwahara Syndrome |
|
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... |
OMIM:619268 |
| Cole-Carpenter Syndrome |
|
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:2050 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Horseshoe kidney, Renal cyst, Ventricular septal defect |
OMIM:250410 |
| Dysosteosclerosis |
|
Platyspondyly, Narrow chest, Broad ribs, Increased intervertebral space, Short ribs, Hypoplastic ... |
OMIM:224300 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
| Charge Syndrome |
|
Interrupted aortic arch, Horseshoe kidney, Tetralogy of Fallot, Aortic arch aneurysm, Vesicourete... |
ORPHA:138 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect |
OMIM:620242 |
| Arboleda-Tham Syndrome |
|
Recurrent aspiration pneumonia, Narrow chest, Secundum atrial septal defect, Recurrent urinary tr... |
OMIM:616268 |
| Frontometaphyseal Dysplasia 2 |
|
Patent foramen ovale, Bicuspid aortic valve, Neurogenic bladder, Pectus excavatum, Scoliosis, Pat... |
OMIM:617137 |
| Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Narrow chest, Bruising susceptibility, Multiple rib fractures, Vertebral compressi... |
OMIM:616229 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal heart morphology, Vesicoureteral reflux, Ventricular septal defect, Hydronephrosis, Bicu... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal heart morphology, Vesicoureteral reflux, Ventricular septal defect, Hydronephrosis, Bicu... |
ORPHA:352665 |
| Leigh Syndrome |
|
Generalized aminoaciduria, Hepatic failure, Methylmalonic aciduria, Hypertrophic cardiomyopathy, ... |
ORPHA:506 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Atrial septal defect, Patent ductus arteriosus, Sandwich appearance of vertebral bodies, Ventricu... |
OMIM:620558 |
| Cardiogenic Shock |
|
Hepatomegaly, Cyanosis, Oliguria, Hypoxemia |
ORPHA:97292 |
| Schwartz-Jampel Syndrome |
|
Platyspondyly, Pectus carinatum, Abnormality of the urinary system, Shoulder flexion contracture,... |
ORPHA:800 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short neck, Renal hypoplasia, Sacral dimple, Recurrent urinary tract infections |
OMIM:617157 |
| 14Q22Q23 Microdeletion Syndrome |
|
Renal hypoplasia |
ORPHA:264200 |
| Otopalatodigital Syndrome, Type Ii |
|
Platyspondyly, Undulate clavicles, Spondylolysis, Narrow chest, Short ribs, Hydronephrosis, Kypho... |
OMIM:304120 |
| Hyperoxaluria, Primary, Type I |
|
Nephrocalcinosis, Peripheral arterial stenosis, Hyperoxaluria, Renal insufficiency, Cutis marmora... |
OMIM:259900 |
| Choanal Atresia |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:137914 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Block vertebrae, Pulmonary hypoplasia, Renal agenesis, Cervical rib... |
OMIM:164210 |
| Branchio-Oculo-Facial Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis |
ORPHA:1297 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Hydronephrosis, Micropenis, Ventricular septal defect |
OMIM:617798 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect |
OMIM:616920 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tetralogy of Fallot, Cervical C5/C6 vertebrae fusion, Ventricular septal defect, Short neck, Atri... |
OMIM:613458 |
| Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
| Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Scoliosis, Kyphosis, Biconcave vertebral bodies |
OMIM:259420 |
| Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Pectus excavatum of inferior sternum, Short neck, Superior pectus ... |
OMIM:601321 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Ab... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Ab... |
ORPHA:353277 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
| Apert Syndrome |
|
Pectus carinatum, Cervical C5/C6 vertebrae fusion, Ventricular septal defect, Hydronephrosis, Ove... |
OMIM:101200 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Pulmonary hemorrhage, Phimosis, Coarctation of aorta, Atrial septal defect, Prolonged neonatal ja... |
ORPHA:363611 |
| Von Hippel-Lindau Syndrome |
|
Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma |
OMIM:193300 |
| Prader-Willi Syndrome Due To Translocation |
|
Abnormal heart morphology, Patent foramen ovale, Short neck, Abnormality of the kidney, Recurrent... |
ORPHA:177907 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac... |
ORPHA:79404 |
| Oculocerebrocutaneous Syndrome |
|
Missing ribs, Abnormal rib morphology |
ORPHA:1647 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Cardiomyopathy, Ventricular septal defect, A... |
ORPHA:33364 |
| Autosomal Dominant Centronuclear Myopathy |
|
Urinary incontinence, Thin ribs |
ORPHA:169189 |
| Joubert Syndrome 2 |
|
Renal cyst, Nephronophthisis, Renal insufficiency |
OMIM:608091 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Autoimmune hemolytic ane... |
ORPHA:436252 |
| Feingold Syndrome 1 |
|
Interrupted aortic arch, Accessory spleen, Annular pancreas, Polysplenia, Ventricular septal defe... |
OMIM:164280 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Patent foramen ovale, Thoracic scoliosis, Aplasia of the thymus, Atrial septal defect, Prolonged ... |
OMIM:620186 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Right atrial enlargement, Atrial septal defect |
OMIM:615219 |
| Cole-Carpenter Syndrome 2 |
|
Thin ribs, Pectus excavatum, Platyspondyly, Kyphosis |
OMIM:616294 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent lower respiratory tract infections, Scoliosis, Ventricular septal defect, Recurrent uri... |
OMIM:619229 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Chordee, Hypospadias, Atrial septal defect |
OMIM:618891 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect |
OMIM:620183 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Pectus excavatum, Scoliosis, Kyphosis, Abnormal rib morphology |
ORPHA:2215 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Thin ribs, Progressive cong... |
OMIM:225400 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:99880 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Proteinuria, Renal cyst, Hepatomegaly, Nephrotic syndrome |
OMIM:212065 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Aplasia/Hypoplasia of the clavicles, ... |
ORPHA:3472 |
| Opitz Gbbb Syndrome |
|
Rectourethral fistula, Vesicoureteral reflux, Ventricular septal defect, Micropenis, Hypospadias,... |
OMIM:300000 |
| Trisomy 20P |
|
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... |
ORPHA:261318 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Thoracic hypoplasia, Hydronephrosis, Prominent sternum, Pectus excavatum, Coat hanger sign of ribs |
ORPHA:254528 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal lung lobation, Complete atrioventricular canal defect, Ventricular sep... |
OMIM:236680 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Ectodermal dysplasia, Micropenis, Hypospadias, Patent ductus arteriosus |
OMIM:106260 |
| Ebstein Anomaly |
|
Ebstein anomaly of the tricuspid valve, Atrial septal defect |
OMIM:224700 |
| Johanson-Blizzard Syndrome |
|
Intrahepatic cholestasis, Hepatic fibrosis, Dilated cardiomyopathy, Hepatic failure, Exocrine pan... |
OMIM:243800 |
| Proteus Syndrome |
|
Long penis, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Enlarged kidney |
ORPHA:744 |
| Gabriele-De Vries Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction, Patent foramen ovale, Aortopulmonary collater... |
OMIM:617557 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Micropenis, Short neck, Lumbar hyperlordosis, Ventricular septal defect |
ORPHA:251028 |
| Keutel Syndrome |
|
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... |
OMIM:245150 |
| Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Cutis marmorata, Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Thin clavicles |
ORPHA:93324 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:143 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Ventricular septal defect |
OMIM:619306 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Renal tubular acidosis, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:613457 |
| Meier-Gorlin Syndrome 1 |
|
Thin ribs, Abnormal rib cage morphology, Pectus carinatum, Flat glenoid fossa, Emphysema, Short r... |
OMIM:224690 |
| Cerebellofaciodental Syndrome |
|
Short neck, Scoliosis, Mitral valve prolapse, Ventricular septal defect |
OMIM:616202 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ve... |
OMIM:619522 |
| Hereditary Acrokeratotic Poikiloderma |
|
Erythema, Abnormality of the urethra, Abnormal renal tubule morphology, Telangiectasia of the ski... |
ORPHA:2907 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Platyspondyly, Nephrocalcinosis, Oligosacchariduria, Abnormal rib morphology, Atel... |
ORPHA:534 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Pancytopenia, Distal renal tubular acidosis, Elliptocytosis, Renal t... |
ORPHA:2785 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale |
ORPHA:542306 |
| Xylt1-Cdg |
|
Short clavicles, Broad ribs, Hepatomegaly |
ORPHA:370930 |
| Oculodentodigital Dysplasia |
|
Neurogenic bladder, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Ventricu... |
ORPHA:2710 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Hepatomegal... |
OMIM:610505 |
| Alpha-Mannosidosis, Infantile Form |
|
Platyspondyly, Pneumonia, Pectus carinatum, Oligosacchariduria, Recurrent urinary tract infection... |
ORPHA:309282 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Dilatation of the ventricular cavity, Ventricular septal defect, Pulmonary artery stenosis, Atria... |
ORPHA:459070 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Recurrent pneumonia, Splenomegaly, Multiple rib fractures, Anemia, Hepatomegaly |
OMIM:612301 |
| 3Q29 Microduplication Syndrome |
|
Short neck, Ventricular septal defect |
ORPHA:251038 |
| Goldberg-Shprintzen Syndrome |
|
Short neck, Vesicoureteral reflux, Ventricular septal defect |
OMIM:609460 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Oculodentodigital Dysplasia |
|
Vertebral hyperostosis, Neurogenic bladder, Atrial septal defect |
OMIM:164200 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal cyst, Renal dysplasia |
OMIM:617260 |
| Mowat-Wilson Syndrome |
|
Pectus carinatum, Abnormal heart morphology, Ventricular septal defect, Pulmonary artery sling, P... |
OMIM:235730 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly |
ORPHA:163966 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
| Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Hepatomegaly |
ORPHA:1454 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... |
OMIM:618748 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:617952 |
| Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs, Subdural hemorrhage |
OMIM:615368 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hypoplastic coccygeal vertebrae, Fetal pyelectasis, Atrial septal defect, Dilation of Virchow-Rob... |
OMIM:619512 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Renal hypoplasia, Vesicoureteral reflux, Kyphoscoliosis, Short neck, Micropenis, Hypospadias |
OMIM:309580 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Broad ribs, Increased intervertebral space, Ventricular septal defect |
OMIM:619727 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Recurrent respiratory infections, V... |
OMIM:619575 |
| Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Absent pulmonary artery, Hydronephrosis, Multiple rib fractures, Hypoplastic pulmon... |
OMIM:610682 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Recurrent upper respiratory tract infections, Enuresis, Elevated circulating hepatic transaminase... |
ORPHA:293987 |
| Faciocardiomelic Syndrome |
|
Common atrium, Narrow chest, Cuboid-shaped vertebral bodies |
OMIM:612731 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Increased hepatic echogenicity, Cupped ribs, Severe platyspondyly, Scoliosis, Ovoi... |
OMIM:608940 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Scoliosis, Atrial septal defect |
ORPHA:522077 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Recurrent respira... |
ORPHA:3047 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Flat glenoid fossa, Lumbar hyperlordosis, Short ribs, Cupped ribs, Irregular chondrocostal juncti... |
OMIM:250420 |
| Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1051 |
| Joubert Syndrome 1 |
|
Nephropathy, Renal cyst |
OMIM:213300 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib morphology, ... |
ORPHA:2769 |
| Hallermann-Streiff Syndrome |
|
Thin ribs, Abnormal rib cage morphology, Recurrent pneumonia, Decreased number of sternal ossific... |
OMIM:234100 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Platyspondyly, Thoracolumbar kyphosis, Thoracic hypoplasia, Thoracic platyspondyly, Horizontal ri... |
OMIM:618019 |
| Roberts-Sc Phocomelia Syndrome |
|
Horseshoe kidney, Hypospadias, Long penis, Polycystic kidney dysplasia |
OMIM:268300 |
| Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst |
OMIM:191100 |
| Alveolar Echinococcosis |
|
Abnormal bladder morphology, Renal cyst, Pancreatic cysts, Hepatic cysts |
ORPHA:284 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Acute kidney injury, Nephronophthisis, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduce... |
OMIM:266920 |
| Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... |
OMIM:613254 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal left ventricle morphology, Right ventricular hypertrophy, Patent foramen ovale, Ventricu... |
ORPHA:466791 |
| Wiedemann-Rautenstrauch Syndrome |
|
Thin ribs, Pneumonia, Narrow chest, Long penis, Secundum atrial septal defect, Premature skin wri... |
OMIM:264090 |
| Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Premature skin wrinkling, Short neck, Pulmonary arterial medial hypertrophy, Scoliosis... |
OMIM:601559 |
| Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
| Omodysplasia 1 |
|
Pulmonary artery stenosis, Short neck, Atrial septal defect, Ventricular septal defect |
OMIM:258315 |
| Diets-Jongmans Syndrome |
|
Interrupted inferior vena cava with azygous continuation, Hypospadias, Heterotaxy, Ventricular se... |
OMIM:618846 |
| Fryns Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias |
ORPHA:2059 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cardiomyopathy, Renal dysplasia, Hydronephrosis, Thoracolumbar scoliosis, Atrial septal defect, C... |
ORPHA:480880 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Asymmetry of the thorax, Recurrent urinary tract infections, Crossed fused renal ectopia, Patent ... |
OMIM:619841 |
| Kindler Epidermolysis Bullosa |
|
Erythema, Neoplasm of the urethra, Phimosis, Urethral stricture, Abnormal rib morphology, Anemia,... |
ORPHA:2908 |
| 2P15P16.1 Microdeletion Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:261349 |
| Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... |
ORPHA:79500 |
| Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Dilatation of the renal pelvis, Glenoid fossa hypoplasia, Short ... |
OMIM:600920 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:96191 |
| Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Cervical ribs, Prominent superficial veins, Prematurely aged appearance, Scoliosis |
OMIM:601812 |
| Kagami-Ogata Syndrome |
|
Thoracic hypoplasia, Bell-shaped thorax, Kyphoscoliosis, Short neck, Hepatoblastoma, Coat hanger ... |
ORPHA:254519 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Atrial septal defect, Mi... |
OMIM:606170 |
| D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Renal cyst, Splenomegaly |
OMIM:261515 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Partial anomalous pulmonary venous return, Scoliosis, Atrial septal defect, Ventricular septal de... |
OMIM:301044 |
| Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Cutis marmorata, Vesicoureteral reflux, Renal insufficiency, Ventri... |
ORPHA:199 |
| Distal Deletion 19P |
|
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect |
ORPHA:96129 |
| Pitt-Hopkins Syndrome |
|
Micropenis, Acrocyanosis, Short neck, Scoliosis |
ORPHA:2896 |
| Sclerosteosis 1 |
|
Broad ribs, Sclerotic vertebral endplates, Broad clavicles, Sclerotic scapulae |
OMIM:269500 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Broad clavicles, Prominent scalp veins, Broad ribs, Cutis marmorata, Chordee, Hemivertebrae, Spin... |
OMIM:151050 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Scoliosis, Patent ductus arteriosus |
OMIM:616682 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Broad ribs, Hepatosplenomegaly, Cholecystitis, Hyperlordosis, Hepatomegaly |
OMIM:301066 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Patent foramen ovale, Short neck, Micropenis, Ectopic kidney |
OMIM:263650 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad ribs, Vertebral arch anomaly |
ORPHA:85184 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal lumbar spine morphology, Abnormality of the cervical spine... |
ORPHA:249 |
| Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Platyspondyly, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Kyphosis |
OMIM:610915 |
| Joubert Syndrome 21 |
|
Renal cyst, Splenomegaly, Hyperechogenic kidneys |
OMIM:615636 |
| Acrocapitofemoral Dysplasia |
|
Pectus carinatum, Narrow chest, Lumbar hyperlordosis, Short ribs, Cupped ribs, Pectus excavatum, ... |
OMIM:607778 |
| Monosomy 9P |
|
Hypospadias, Abnormality of the vertebral column, Ureteropelvic junction obstruction, Short neck,... |
ORPHA:261112 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Chylothorax, Pleural effusion, Atrial septal defect |
ORPHA:2526 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Cystocele, Mitral valve prola... |
ORPHA:285 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Erythema, Ventricular septal defect |
OMIM:614653 |
| Coffin-Siris Syndrome 12 |
|
Hypospadias, Elevated circulating hepatic transaminase concentration, Horseshoe kidney, Tetralogy... |
OMIM:619325 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal hypertrophy, Ventricular septal defect |
OMIM:614947 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Pulmonary artery aneurysm, Biventricular hypertrophy, Partial atrioventricular canal defect, Pate... |
OMIM:616462 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Scoliosis, Abnormal rib morphology |
ORPHA:1300 |
| Coffin-Lowry Syndrome |
|
Pectus carinatum, Bifid sternum, Cutis marmorata, Lumbar kyphosis, Pectus excavatum, Acrocyanosis... |
OMIM:303600 |
| Craniometadiaphyseal Dysplasia |
|
Broad ribs, Scoliosis |
OMIM:269300 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated circulating hepatic transaminase concentration, Dilatation of the cerebral artery, Hepat... |
OMIM:619475 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Platyspondyly, Cupped ribs, Scoliosis, Ovoid vertebral bodies |
ORPHA:85167 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm |
ORPHA:538 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Micropenis, Spina bifida occulta, Short neck, Abnormal rib morphology |
ORPHA:488434 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Rachitic rosary, Hypocalciuria, Sacroiliac joint synovitis, Multiple rib... |
ORPHA:89936 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Ventricular septal defect, Bicuspid aortic v... |
ORPHA:261552 |
| Kyphomelic Dysplasia |
|
Platyspondyly, Thoracic hypoplasia, Undulate ribs, Anterior rib cupping, Lateral clavicle hook |
OMIM:211350 |
| Ear-Patella-Short Stature Syndrome |
|
Aplastic clavicle, Abnormal rib morphology, Hypoplasia of penis, Hypospadias, Epispadias |
ORPHA:2554 |
| Early Infantile Epileptic Encephalopathy |
|
Micropenis, Ureterocele, Renal dysplasia, Ventricular septal defect |
ORPHA:1934 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Recurrent lower respiratory tract infections, Cyanosis |
OMIM:618426 |
| Fraser Syndrome |
|
Abnormality of the urinary system, Abnormal lung lobation, Renal hypoplasia/aplasia, Vertebral se... |
ORPHA:2052 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Renal dysplasia, Hypertrophic cardiomyopathy, 11 pairs of ribs, Ventricula... |
OMIM:601803 |
| Chromosome 13Q14 Deletion Syndrome |
|
Micropenis, Patent foramen ovale, Ventricular septal defect |
OMIM:613884 |
| Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
OMIM:619895 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst... |
ORPHA:892 |
| Orofaciodigital Syndrome Type 14 |
|
Aplasia of the epiglottis, Ventricular septal defect, Short neck, Patent ductus arteriosus, Episp... |
ORPHA:434179 |
| Microphthalmia, Syndromic 6 |
|
Renal hypoplasia |
OMIM:607932 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Chordee, Hypospadias, Patent foramen ovale |
ORPHA:477993 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, Atrial septal defect, Ureteropelvic junction obstruction |
OMIM:300896 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale |
OMIM:225250 |
| Pyknoachondrogenesis |
|
Unossified sacrum, Horizontal ribs, Poorly ossified vertebrae, Short ribs, Short thorax, Enlarged... |
ORPHA:3003 |
| Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Displacement of the urethral meatus |
ORPHA:1556 |
| Eiken Syndrome |
|
Broad ribs |
OMIM:600002 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts |
ORPHA:2750 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Recurrent pneumonia, Recurrent bronchitis, Ventricular septal defect, Hydronephrosis, Short neck |
OMIM:620330 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Scoliosis, Secundum atrial septal defect, Patent ductus arteriosus |
OMIM:613355 |
| Fetal Akinesia Deformation Sequence 1 |
|
Thin ribs, Thoracic hypoplasia, Short neck, Stillbirth, Pulmonary hypoplasia |
OMIM:208150 |
| Yunis-Varon Syndrome |
|
Aplastic clavicle, Hypoplastic scapulae, Cardiomyopathy, Aspiration pneumonia, Tetralogy of Fallo... |
OMIM:216340 |
| Gabriele-De Vries Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction, Ebstein anomaly of the tricuspid valve, Paten... |
ORPHA:506358 |
| Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Pancreatic cysts, Urethral atresia |
ORPHA:564 |
| Trisomy 10P |
|
Multiple renal cysts, Abnormality of the kidney |
ORPHA:171929 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Renal cyst, Hypospadias |
ORPHA:495875 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Chordee, Secundum atrial septal defect, Patent ductus arteriosus, Phimosis |
OMIM:620455 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal hypertrophy, Ventricular septal defect |
OMIM:608670 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
| Ulnar-Mammary Syndrome |
|
Micropenis, Hypoplastic scapulae, Short clavicles, Ventricular septal defect |
OMIM:181450 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Horseshoe kidney, Vesicoureteral reflux, Polycystic ovaries, Hydronephros... |
ORPHA:110 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Pectus carinatum, Broad clavicles, Broad ribs, Barrel-shaped chest, Pilonidal sinus, Short neck, ... |
OMIM:276820 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Multicystic kidney dysplasia, Micropenis |
OMIM:615287 |
| Neuroocular Syndrome 1 |
|
Sacral dimple, Scapular winging, Pectus excavatum, Patent foramen ovale |
OMIM:619539 |
| C Syndrome |
|
Horseshoe kidney, Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:1308 |
| Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Ureter... |
ORPHA:709 |
| Branchiooculofacial Syndrome |
|
Renal cyst, Hypospadias, Renal agenesis |
OMIM:113620 |
| Mowat-Wilson Syndrome |
|
Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Hydronephro... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Hydronephro... |
ORPHA:261537 |
| Pmm2-Cdg |
|
Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts |
ORPHA:79318 |
