| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous orig... |
OMIM:618845 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Renal agenesis, Abnormal thorax morphology, Abnormal lung morphology, Abnormal heart morphology, ... |
ORPHA:294975 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... |
OMIM:270100 |
| Tricuspid Atresia |
|
Cyanosis, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarcta... |
ORPHA:1209 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease, He... |
OMIM:617661 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... |
OMIM:605376 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... |
OMIM:616749 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Abnormal vertebral morphology, Dextrocardia, Urethral atresia, Isomerism, Abnormal... |
OMIM:314390 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Neurogenic bladder, Vertebral artery hypoplasia, Unilateral vertebral artery hy... |
OMIM:613686 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
| Poland Syndrome |
|
Dextrocardia, Rib fusion, Hemivertebrae, Short ribs, Sprengel anomaly |
OMIM:173800 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal rib morphology, Abnormal form... |
ORPHA:1354 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... |
OMIM:615996 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Neonatal death, Atrial septal defect, Congenital alveola... |
OMIM:608978 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia |
ORPHA:66630 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
| Dextrocardia |
|
Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal renal morphology, Abnor... |
ORPHA:1666 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
| Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the pan... |
ORPHA:1926 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Transposition of the great art... |
ORPHA:261243 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Cyanosis, Abnormal coronary artery morphol... |
ORPHA:860 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great... |
OMIM:231060 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Holzgreve Syndrome |
|
Hypoplastic left heart, Renal agenesis, Renal hypoplasia |
OMIM:236110 |
| Meacham Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen... |
ORPHA:3097 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
| Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
| Cardiac-Urogenital Syndrome |
|
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Cutis marmorata, Portal hypertension, Splenomegaly, Renal hypoplasia, ... |
OMIM:616589 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Atrial septal defect, Tetra... |
OMIM:612946 |
| Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Pulmonary artery atresia, Atrial septal defect, Neonatal death, Pe... |
OMIM:601186 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, Transposition of the great arteries, Scoliosis, Atrial se... |
ORPHA:1913 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Aplasia/Hypoplasia of the thymus, Hypoplastic left ... |
ORPHA:1727 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Missing ribs |
ORPHA:1759 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
| Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Hypospadias, Short neck,... |
ORPHA:2311 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis |
OMIM:601355 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology... |
OMIM:618494 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... |
OMIM:615482 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Ventricular septal defect, Unilateral renal agenesis, Patent ductus arte... |
OMIM:618142 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
| Even-Plus Syndrome |
|
Atrial septal defect, Recurrent urinary tract infections, Short neck, Vertebral clefting, Renal h... |
OMIM:616854 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vert... |
OMIM:608681 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... |
OMIM:619657 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... |
OMIM:619702 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Pectus excavatum, Secundum atrial septal defect, Pectus carinatum, Aortic root aneurysm, Transpos... |
OMIM:619910 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral ... |
OMIM:614576 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusoria, Double out... |
OMIM:620294 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Recurrent respiratory infections, Vertebral fusion, Block vertebrae, Abnormal odontoid... |
OMIM:277300 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Rib fusion, Abnormal heart morphology, Abnormal aorti... |
ORPHA:261197 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Sh... |
ORPHA:99776 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Midshaft hypospadias, Patent ductus arteriosus, Dextrocardia, Renal hypoplasia/aplasia |
ORPHA:2863 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati... |
OMIM:263200 |
| Eng-Strom Syndrome |
|
Pectus excavatum, Abnormal cardiac septum morphology, Ventricular septal defect, Scoliosis |
ORPHA:1937 |
| Verheij Syndrome |
|
Vertebral fusion, Ventricular septal defect, Renal agenesis, Short neck, Hemivertebrae, Renal hyp... |
OMIM:615583 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Sacral dimple, Ventricular ... |
OMIM:609029 |
| Vacterl Association With Hydrocephalus |
|
Renal hypoplasia, Abnormal heart morphology, Stillbirth, Abnormality of the vertebral column, Abn... |
OMIM:276950 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
OMIM:600001 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Short neck, Pulmonary artery stenosis, Patent ductus arteriosus, Enlarged thorax, Hy... |
ORPHA:251071 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... |
OMIM:613095 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transpositio... |
ORPHA:1461 |
| Prune Belly Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal ins... |
ORPHA:2970 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Sacral dimple, Ventricular septal defect, Unilateral renal agen... |
ORPHA:96170 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morpho... |
ORPHA:1797 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... |
OMIM:609813 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Cyanosis, Dextrocardia, Secundum atrial sept... |
ORPHA:2257 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| Megabladder, Congenital |
|
Multiple glomerular cysts, Bicuspid aortic valve, Ventricular septal defect, Left ventricular non... |
OMIM:618719 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, ... |
ORPHA:99050 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Pectus excavatum, Prominent sternum, Perimembranous ventricular septal defect, ... |
OMIM:617877 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hypoplastic scapulae, Ventricular septal defect, Short neck, Atelectasis, Patent du... |
OMIM:269860 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Unilateral renal agenesis |
OMIM:608572 |
| Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Abnormal sacrum morphology, Long penis, Rib fusion, Abnormal rib morpho... |
ORPHA:1988 |
| Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Ectopic kidney, Pectus excavatum, Hemivertebrae, Renal hypoplasia, Pulmonic steno... |
OMIM:212780 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper ... |
OMIM:263000 |
| Braddock Syndrome |
|
Unilateral renal agenesis, Short neck, Pectus excavatum, Missing ribs, Hemivertebrae, Pulmonary f... |
ORPHA:52047 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
| Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
ORPHA:2255 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia |
OMIM:611884 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Posterior rib fu... |
OMIM:265380 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Abnormal mesentery morphology, Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia |
ORPHA:2256 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Renal agenesis, Ventricular septal defect, Dextrocardia, Complete atrioventricu... |
OMIM:264480 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Carpenter Syndrome 1 |
|
Sacral dimple, Hydroureter, Ventricular septal defect, Short neck, Patent ductus arteriosus, Spin... |
OMIM:201000 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Short neck, Abnormal sacrum morphology, Abno... |
ORPHA:2345 |
| Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Short neck, Abnormal renal morphology, Renal hyp... |
OMIM:609053 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Scolio... |
OMIM:611555 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
| Poland Syndrome |
|
Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum morphology, Vertebral segmentation ... |
ORPHA:2911 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Abnormality o... |
OMIM:601076 |
| Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Secundum... |
ORPHA:2260 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis, Pectus excavatum, Muscular ventricular septal defect, ... |
OMIM:619227 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:614679 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Short neck, Kyphosis, Renal hypoplasia, Abnormal sternum morphology, P... |
OMIM:248700 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Ventricular septal defect, Unilateral renal agenesis |
OMIM:618504 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine... |
OMIM:613759 |
| Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Hemivertebrae, Atrial septal defect, Vesicoureteral reflux,... |
OMIM:118450 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis |
ORPHA:3306 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy... |
OMIM:614922 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Orofaciodigital Syndrome Xvii |
|
Micropenis, Tetralogy of Fallot, Renal hypoplasia, Short neck |
OMIM:617926 |
| Shashi-Pena Syndrome |
|
Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Kyphosis, Patent ductus arteriosus, ... |
OMIM:617190 |
| Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Patent ... |
OMIM:613680 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Autoimmune thrombocytopenia, Renal hypoplasia, Hypertrophy of the urinar... |
OMIM:601389 |
| Floating-Harbor Syndrome |
|
11 pairs of ribs, Hypospadias, Renal agenesis, Kyphoscoliosis, Short neck, Dilatation of the rena... |
ORPHA:2044 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia |
OMIM:617577 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As... |
OMIM:615415 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Catel-Manzke Syndrome |
|
Pectus excavatum, Atrial septal defect, Ventricular septal defect, Scoliosis |
ORPHA:1388 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Hypospadias, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Pulmonary seq... |
OMIM:618330 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis, Short neck, Abnormal rib morphology, Scolio... |
OMIM:118100 |
| Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
| Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:253300 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Renal insufficiency, Hypospadias, Kyphoscoliosis, Short neck, Hemolytic-uremi... |
OMIM:611209 |
| Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Ventricular septal defect, Renal hypoplasia/... |
ORPHA:289 |
| Transaldolase Deficiency |
|
Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarc... |
ORPHA:101028 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid... |
OMIM:146510 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Short neck, Pectus excavatum, Coronar... |
OMIM:614294 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries, Short neck |
OMIM:616789 |
| Marden-Walker Syndrome |
|
Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Abnormal penis morphology, M... |
ORPHA:2461 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Lateral clavicle hook, Splenomegaly, Chronic kidney dise... |
OMIM:615630 |
| Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Patent ductus arteriosus, Transposition of the great arteries, Pulmo... |
OMIM:313850 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hypoplastic scapulae, Unilateral renal agenesis, Erythema, Abnormal cardiac septum morphology, St... |
OMIM:308050 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Ventricular septal defect, Down-sloping shoulders, Pectus excavatum... |
ORPHA:392 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Secundum atrial septal defect, Kypho... |
OMIM:619951 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect, Narrow chest, Scoliosis |
OMIM:615731 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:618063 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Renal hypoplasia |
ORPHA:75389 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excava... |
OMIM:616817 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology, Hypospadias |
ORPHA:276422 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
| Syndromic Diarrhea |
|
Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Hepatoblastoma, Incr... |
ORPHA:84064 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Renal insufficiency, Short thorax, Abnormal rib morphology, Aplasia... |
ORPHA:474 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Atrial septal defect, Absence of the sacrum, Renal hypoplasia, Aortic valve stenosis, Hypoplastic... |
OMIM:617660 |
| Distal Duplication 6P |
|
Sacral dimple, Short neck, Abnormal lung lobation, Renal hypoplasia, Abnormality of the urinary s... |
ORPHA:1745 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Poor wound healing, Unilateral renal agenesis, Mitral valve prolapse, ... |
OMIM:606408 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Renal agenesis, Patent ductus arteriosus, Renal hypoplasia, Pectus carinatum, Microp... |
ORPHA:171839 |
| Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple... |
OMIM:216360 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Patent ductus arteriosus, Undulate ribs, Thin ribs, Stroke, Short ribs... |
OMIM:618188 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Short neck, Pectus excavatum, Abnormal heart morphology, Abnormality of the urinary... |
ORPHA:96092 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Vertebral segmentation defect, Abnormal aort... |
ORPHA:1166 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts |
ORPHA:3033 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Short neck, Hemivertebrae, Transposition of the great arteries, Cervic... |
ORPHA:1780 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... |
ORPHA:411709 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... |
ORPHA:64755 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... |
OMIM:615444 |
| Asbestos Intoxication |
|
Cyanosis, Atelectasis, Pleural thickening, Mediastinal lymphadenopathy, Cor pulmonale, Myocardial... |
ORPHA:2302 |
| Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Sacral dimple, Pneumonia, Thrombocytopenia, Patent ductus arteriosus, Renal... |
OMIM:603467 |
| Floating-Harbor Syndrome |
|
11 pairs of ribs, Hypospadias, Kyphoscoliosis, Short neck, Glandular hypospadias, Coarctation of ... |
OMIM:136140 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Scoliosis, Pectus carinatum |
ORPHA:3268 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Cutis marmorata |
OMIM:615297 |
| Pentalogy Of Cantrell |
|
Absent gallbladder, Renal agenesis, Hypospadias, Abnormal pericardium morphology, Ventricular sep... |
ORPHA:1335 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Patent ductus arteriosus,... |
OMIM:616737 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Ventricular septal defect, Missing ribs, Hemivertebrae, Double outlet right ventricl... |
OMIM:220210 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Sacral dimple, Ventricular septal defect, Scoliosis |
OMIM:608227 |
| Double Outlet Right Ventricle |
|
Cyanosis, Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterot... |
ORPHA:3426 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Thoracolumbar scoliosis, Ureteral agenesis, Abnormality of the urinary system, Cong... |
ORPHA:2437 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:606763 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Unilateral renal agenesis, Short ne... |
OMIM:213980 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Abnormal form ... |
ORPHA:93941 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Recurrent respiratory infections, Sacral dimple, Hypospadias, Abn... |
ORPHA:280 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Cutis marmorata, Absence of renal corticomedullary differentiat... |
OMIM:619758 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous retu... |
OMIM:617478 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... |
OMIM:615994 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Cyanosis, Splenomegaly, Chylopericardium, Pulmonic stenosis, Pleural effusion |
ORPHA:2414 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Short neck, Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Ne... |
OMIM:236500 |
| Lessel-Kubisch Syndrome |
|
Premature graying of hair, Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Thoracic kyphosis, Thoracic hemivertebrae,... |
ORPHA:508498 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Rec... |
OMIM:252920 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Megaloblastic anemia, Intraventricular hemorrhage, Methylmalonic acidu... |
ORPHA:79284 |
| Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular ... |
ORPHA:1507 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal rib morphology, Abnormal lung lobation,... |
ORPHA:1120 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Pectus excavatum, Rib fusion, Abnormal sternum morphology, Vertebral segment... |
ORPHA:2990 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypospadias, Ventricular septal defect, Missing ribs, Patent ductus arteriosus,... |
OMIM:206900 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Recurrent respiratory infections, Hepatomegaly, Short neck, Patent ductus arteriosus, Bell-shaped... |
ORPHA:1842 |
| Duane-Radial Ray Syndrome |
|
Renal malrotation, Atrial septal defect, Renal agenesis, Ventricular septal defect, Renal hypopla... |
OMIM:607323 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia |
OMIM:619053 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypoplastic scapulae, Hypospadias, Renal hypoplasia, Renal cyst, Thoracic dysplasia, Short ribs, ... |
OMIM:614091 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduria, Hypertrophic... |
ORPHA:254913 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614870 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
| Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ventricular septal defect, Ectopic kidney, Patent d... |
OMIM:192350 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Williams-Beuren Region Duplication Syndrome |
|
Patent ductus arteriosus, Cutis marmorata, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
| 3Q29 Microdeletion Syndrome |
|
Hypospadias, Pectus excavatum, Patent ductus arteriosus, Horseshoe kidney, Pectus carinatum, Six ... |
ORPHA:65286 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... |
OMIM:614377 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Renal agenesis, Renal hypoplasia/aplasia, Short neck, Abnormal lung lo... |
ORPHA:2516 |
| Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve, Anemia of inadequate production, Unilateral renal agenesis, Bone marrow hy... |
OMIM:614900 |
| Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Butterfly vertebral arch, Telangiectasia of the skin, Re... |
ORPHA:52 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Ventricular septal defect, Scoliosis, Dextrotransposition of the great arteries |
OMIM:619995 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Pulmonic stenosis, Scolios... |
OMIM:179613 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormality of the pancreas, Abnormal cardiac sep... |
ORPHA:2315 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Coarctation of aorta, Micropenis, Sprengel anomaly, Atrioventricular canal defect |
OMIM:618929 |
| Zttk Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral ren... |
OMIM:617140 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Cystathioninuria, Patent ductus a... |
OMIM:277380 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Mesenteric cyst, Hypospadias, Ventricular septal defect, Parach... |
OMIM:618316 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus, Abnormal heart morphology, Hyp... |
ORPHA:2847 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart, Abnormal rib morphology |
ORPHA:2772 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
| Noonan Syndrome 12 |
|
11 pairs of ribs, Lymphopenia, Ventricular septal defect, Pectus excavatum, Spinal canal stenosis... |
OMIM:618624 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ... |
OMIM:614376 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Ectopic kidney, Abnormal heart morphology, Atrial septal defect, Trunc... |
ORPHA:401935 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f... |
OMIM:620024 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Short neck, Thrombocytopenia, Patent ductu... |
OMIM:606003 |
| Bresek Syndrome |
|
Hypoplasia of the bladder, Hemivertebrae, Renal hypoplasia, Neonatal death, Scoliosis, Vesicouret... |
ORPHA:85284 |
| Hogue-Janssen Syndrome 2 |
|
Pectus excavatum, Scoliosis, Unilateral renal agenesis |
OMIM:616362 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly... |
ORPHA:290 |
| Femoral-Facial Syndrome |
|
Renal agenesis, Ventricular septal defect, Abnormal renal collecting system morphology, Missing r... |
OMIM:134780 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Port... |
OMIM:620005 |
| Ververi-Brady Syndrome |
|
Transposition of the great arteries, Scoliosis |
OMIM:617982 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Multicystic kidney dysplasia, Ventricular septal defect, Kyphoscoliosis... |
ORPHA:97360 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericar... |
ORPHA:79126 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... |
OMIM:267010 |
| Congenital Heart Block |
|
Cyanosis, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural eff... |
ORPHA:60041 |
| Aortic Arch Interruption |
|
Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv... |
ORPHA:2299 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Thickened ribs, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper r... |
OMIM:252900 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... |
OMIM:249270 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Cerebral hemorrhage, Secundum atrial sept... |
OMIM:617397 |
| Leopard Syndrome 1 |
|
Scapular winging, Hypospadias, Unilateral renal agenesis, Missing ribs, Pectus excavatum, Complet... |
OMIM:151100 |
| Kagami-Ogata Syndrome |
|
Hepatomegaly, Long clavicles, Ventricular septal defect, Kyphoscoliosis, Splenomegaly, Patent duc... |
OMIM:608149 |
| Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Hepatomegaly, Thickened ribs, Abnormal heart valve morphology, Short... |
OMIM:230500 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect, Scoliosis |
OMIM:619717 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste... |
ORPHA:1606 |
| Thanatophoric Dysplasia |
|
Abnormality of the kidney, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Short ... |
ORPHA:2655 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
| Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis |
OMIM:617564 |
| Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ventricular septal defect, Ectopic kidney, Neonatal death, Cystic renal dysplasia |
OMIM:613730 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Ventricular septal defect, Short neck, Abnormal rib morphology, Pla... |
ORPHA:93267 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Patent ductus arteriosus,... |
ORPHA:487796 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormality of the kidney, Kyphosis, Patent ductus arteriosus, Short thorax, Aplasia/Hypoplasia o... |
ORPHA:93274 |
| Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter... |
ORPHA:90324 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Pectus excavatum, Kyphosis, Pa... |
ORPHA:464311 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
| Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
| Perching Syndrome |
|
Cyanosis, Scoliosis |
OMIM:617055 |
| Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Renal cyst, Stillbirth, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
| Mungan Syndrome |
|
Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis |
OMIM:611376 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Short neck, Pectus carinatum, Leukopenia, Macrovesicular hepatic steatosis, Neutropenia, Atrial s... |
OMIM:617303 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Atrial septa... |
OMIM:312870 |
| 8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Short neck, Bilateral renal hypoplasia, Abnormal lung lobation, Narrow chest,... |
ORPHA:508488 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Spinal rigidity, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries... |
OMIM:253800 |
| Chopra-Amiel-Gordon Syndrome |
|
Scoliosis, Unilateral renal agenesis |
OMIM:619504 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cyanosis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Do... |
ORPHA:3304 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
| Lambert Syndrome |
|
Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Ureteral duplication, Hypospadias, ... |
ORPHA:1662 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal agenesis, Abnormal interver... |
ORPHA:887 |
| 7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Short neck, Pec... |
ORPHA:96121 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Short neck, C... |
OMIM:105650 |
| Trisomy 13 |
|
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Abnormal rib morphology, Abnormali... |
ORPHA:3378 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly, Ventricular s... |
OMIM:620210 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Patent foramen ovale, Renal hypoplasia, Pulmonic stenosis |
OMIM:618914 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 verteb... |
OMIM:214300 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Atrial septal defect, Giant cell hepatitis, Ventricular septal def... |
OMIM:208085 |
| Noonan Syndrome 8 |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Pleural effusion, Abnormal stern... |
OMIM:615355 |
| Noonan Syndrome 11 |
|
Pectus excavatum, Pulmonic stenosis, Palmoplantar cutis laxa, Atrial septal defect, Hypertrophic ... |
OMIM:618499 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Missing ribs, Short neck, Abnormality of the spleen, Abnormality of the... |
ORPHA:1834 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Bell-sh... |
OMIM:614857 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal rib morphology, Abnormal sternum mo... |
ORPHA:2519 |
| Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Hypospadias, Dextrocardia |
ORPHA:96097 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Scoliosis, Hypertrop... |
OMIM:616276 |
| Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Micropenis, Patent for... |
OMIM:619189 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sacral dimple, Patent ductus arteriosus after premature birth, Renal hypopl... |
OMIM:618460 |
| 3C Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Ab... |
ORPHA:7 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Thickened ribs, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, R... |
OMIM:252930 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Hepatomegaly, Ventricular septal defect, Elevated circulating aspar... |
OMIM:280000 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Pectus excavatum, Kyphosis, Pa... |
ORPHA:464306 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
| Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Hyperlordosis,... |
OMIM:253000 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Chime Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Aplastic clavicle, Pulmonary valve atresia,... |
ORPHA:3474 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Pa... |
ORPHA:980 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
| Neuralgic Amyotrophy |
|
Scapular winging, Acrocyanosis, Sprengel anomaly |
ORPHA:2901 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Ab... |
ORPHA:555874 |
| Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphosis, Splenomegaly, Recu... |
ORPHA:583 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Penoscro... |
OMIM:270400 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Pectus excavatum, Micropenis, Unilateral renal agenesis |
OMIM:244200 |
| Melnick-Needles Syndrome |
|
Recurrent respiratory infections, Short thorax, Abnormal rib morphology, Abnormal cardiac septum ... |
ORPHA:2484 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect, Scoliosis |
ORPHA:357225 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Lateral clavicle hook, Bell-shaped thorax, Nephrocalcinosis, Th... |
OMIM:615633 |
| Matthew-Wood Syndrome |
|
Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia of the pancreas,... |
ORPHA:2470 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Acute leukemia |
ORPHA:281090 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopathy, Renal hypoplasia, Micropenis, ... |
OMIM:616541 |
| Digeorge Syndrome |
|
Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, Atelectasis, Patent duct... |
OMIM:188400 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Bell-shaped thorax, Stillbirth, Short rib... |
OMIM:616300 |
| White Forelock With Malformations |
|
Atrial septal defect, Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology |
ORPHA:2475 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Stage 2 chronic kidney diseas... |
OMIM:620305 |
| Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short neck, Pectus excavatum, Pulmonic stenosis, Scoliosis, Atrial sep... |
OMIM:615279 |
| Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Elevated hepatic transaminase |
OMIM:619967 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... |
OMIM:619534 |
| Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ventricular septal defect, Ectopic kidney, Pneumonia, Short neck, Cutis... |
OMIM:122470 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Splenic rupture, Left ventricular hypertrophy, Micropenis, Bruising susceptibility, Sub... |
ORPHA:335 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Atelis Syndrome 1 |
|
Ventricular septal defect, Thrombocytopenia, Bronchiectasis, Lumbar kyphosis, Leukopenia, Atrial ... |
OMIM:620184 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Short neck, Ectopic kidney, Abnormal rib morphology, Vertebral segmentation defec... |
ORPHA:2578 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Kyphosis, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatatio... |
ORPHA:314588 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615524 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| 22Q11.2 Deletion Syndrome |
|
Short neck, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, At... |
ORPHA:567 |
| Cardiospondylocarpofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic ... |
OMIM:157800 |
| Cog1-Cdg |
|
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Hepa... |
ORPHA:263508 |
| Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Situs inversus totalis |
OMIM:619881 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts |
ORPHA:2924 |
| Cach Syndrome |
|
Pancreatitis, Renal hypoplasia, Hepatosplenomegaly |
ORPHA:135 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
| Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Thickened aortic valve cusp, Spatulate ribs, Broad clavicles, Hyperl... |
OMIM:619698 |
| Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Short neck, Short thorax, Renal hypoplasia, Ureteral a... |
OMIM:617666 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
| Tetrasomy 9P |
|
Short neck, Biliary atresia, Micropenis, Patent foramen ovale, Absent gallbladder, Juxtaductal co... |
ORPHA:3310 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... |
ORPHA:157 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic a... |
OMIM:604273 |
| Pagod Syndrome |
|
Abnormal clavicle morphology, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inver... |
ORPHA:991 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital kyphoscoliosis, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Kyphoscolios... |
ORPHA:536545 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic... |
OMIM:608836 |
| Noonan Syndrome 4 |
|
Pectus excavatum of inferior sternum, Ureteral duplication, Ventricular septal defect, Short neck... |
OMIM:610733 |
| Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pe... |
OMIM:609654 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Hypospadias, Ventricular septal defect, Beaded ribs, Cardiomegaly, Short ... |
OMIM:616897 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic... |
ORPHA:51208 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Patent d... |
ORPHA:90308 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Mucopolysacchariduria, Ante... |
ORPHA:349 |
| Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Urticaria, Hypopl... |
OMIM:154400 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary... |
ORPHA:199241 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Cyanosis, Pectus excavatum, Horseshoe kidney, Short sternum, Pulmon... |
ORPHA:2886 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Biconvex vertebral bodies, Hepatomegaly, Ventricular septal defect,... |
OMIM:616651 |
| Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia, P... |
ORPHA:3138 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
| Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... |
OMIM:256100 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the ... |
ORPHA:2635 |
| Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
| Megalencephaly |
|
Atrial septal defect, Long penis, Short neck |
ORPHA:2477 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Short neck |
ORPHA:464288 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Coarctation of... |
OMIM:618454 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| 12Q14 Microdeletion Syndrome |
|
Ectopic kidney, Abnormality of the spleen, Renal hypoplasia, Horseshoe kidney, Scoliosis |
ORPHA:94063 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Ventricular septal defect, Cervical kyphosis, Patent ductus art... |
ORPHA:79345 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
| Joubert Syndrome 18 |
|
Ventricular septal defect, Kyphoscoliosis, Renal cyst, Horseshoe kidney, Intrahepatic biliary atr... |
OMIM:614815 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Abnormal coronary ar... |
ORPHA:488618 |
| Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Lumbar hyperlordosis, Bi... |
ORPHA:500150 |
| 8Q12 Microduplication Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Pate... |
ORPHA:439 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
| Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
| Meckel Syndrome 14 |
|
Cyanosis, Short neck, Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kidney dys... |
OMIM:619879 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen... |
OMIM:610198 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Dil... |
ORPHA:2326 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612562 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect |
OMIM:616898 |
| Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis,... |
ORPHA:2522 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septa... |
OMIM:613404 |
| Congenital Tracheomalacia |
|
Cyanosis, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial a... |
ORPHA:95430 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
| Joubert Syndrome With Ocular Defect |
|
Abnormal vertebral morphology, Dextrocardia, Scoliosis |
ORPHA:220493 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormality of the kidney, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphos... |
ORPHA:1860 |
| Phaver Syndrome |
|
Ventricular septal defect, Hypoplastic aortic arch, Abnormal rib morphology, Abnormal form of the... |
ORPHA:2876 |
| Mosaic Trisomy 16 |
|
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Abnormal thorax morphology, Abn... |
ORPHA:1708 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:612561 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Ventricular septal defect, Hyperlordosis, Pectus excavatum, Patent ductus arter... |
OMIM:618870 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Lateral clavicle hook, Pectus carinatum, Platyspo... |
OMIM:263520 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Abnormal localization of kidney |
ORPHA:83473 |
| Neu-Laxova Syndrome 1 |
|
Renal agenesis, Ventricular septal defect, Short neck, Patent ductus arteriosus, Yellow subcutane... |
OMIM:256520 |
| Cerebrofacioarticular Syndrome |
|
Hypospadias, Renal hypoplasia, Abnormal heart morphology, Pulmonic stenosis, Caudal appendage |
ORPHA:314679 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Tortuous cerebral arteries, Premature skin wrinkling, Unilateral renal agenesis |
OMIM:616603 |
| Autosomal Dominant Cutis Laxa |
|
Prematurely aged appearance, Unilateral renal agenesis, Dilatation of the ventricular cavity, Bro... |
ORPHA:90348 |
| Knobloch Syndrome |
|
Dextrocardia, Patent ductus arteriosus, Vesicoureteral reflux, Lymphangioma, Bifid ureter |
ORPHA:1571 |
| Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:2790 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... |
ORPHA:3109 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Ventricular septal defect, Fetal pyelectasis, Bilateral rena... |
ORPHA:49 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Abnormality of the kidney, Scoliosis |
ORPHA:466926 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Abn... |
ORPHA:329224 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, C... |
OMIM:617159 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria... |
ORPHA:26791 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypospadias, Renal dysplasia |
OMIM:615985 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Internally rotated shoulders, Ascending aorta hypoplasia, Facial erythema, Micropenis, Pelvic kid... |
OMIM:619503 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Accessory spleen, Hypospadias, V... |
OMIM:194190 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Pectus carinatum, Leukopenia, Thoracic kyphosis, Atrial septal defect, Patent foramen... |
ORPHA:505248 |
| Renpenning Syndrome 1 |
|
Hypospadias, Ventricular septal defect, Phimosis, Pectus excavatum, Situs inversus totalis, Renal... |
OMIM:309500 |
| Pulmonary Arteriovenous Malformation |
|
Liver abscess, Transient ischemic attack, Cyanosis, Pulmonary arteriovenous fistulas, Telangiecta... |
ORPHA:2038 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
11 pairs of ribs, Long clavicles, Ventricular septal defect, Shoulder flexion contracture, Short ... |
OMIM:210710 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Abnormal p... |
ORPHA:183 |
| Degcags Syndrome |
|
Bilateral renal hypoplasia, Premature graying of hair, Leukopenia, Iron deficiency anemia, Atrial... |
OMIM:619488 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Kyphoscoliosis, Minimal chan... |
OMIM:618348 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Long clavicles, Hypospadias, Down-sloping shoulders, Thoracolumbar scoliosis, Short neck, Kyphosi... |
OMIM:265000 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Kyphosis, Scoliosis, Abnormal heart morphology |
ORPHA:352490 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, ... |
OMIM:617895 |
| Cat Eye Syndrome |
|
Atrial septal defect, Renal agenesis, Ventricular septal defect, Patent ductus arteriosus, Biliar... |
OMIM:115470 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve, Renal agenesis, Unilateral renal agenesis |
OMIM:608980 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis, Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in t... |
ORPHA:391428 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Short neck, Hyperlordosis, Kyphosis, Short thorax, Abnormal rib ... |
ORPHA:582 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
| Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Short neck, Abnormal rib morphology, Narrow chest |
ORPHA:1703 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Pectus e... |
OMIM:605275 |
| Constricting Bands, Congenital |
|
Abnormal lung lobation, Abnormal rib cage morphology, Scoliosis, Ectopia cordis, Bladder exstrophy |
OMIM:217100 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect, Urinary incontinence |
OMIM:620094 |
| Carpenter Syndrome 2 |
|
Dextrocardia, Short neck, Pectus excavatum, Situs inversus totalis, Patent ductus arteriosus, Pec... |
OMIM:614976 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pectus carinatum, Aortic root aneurysm, ... |
OMIM:609008 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Dilation of Virchow-Robin spaces, Unilateral renal hypoplasia, Short neck |
OMIM:619955 |
| Tetrasomy 15Q26 |
|
Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septa... |
OMIM:614846 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... |
OMIM:137920 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Recurren... |
ORPHA:500159 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Aminoaciduria, Polycystic kidney dysplasia |
OMIM:214110 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Noncompaction cardiomyopathy, Hypospadias, Bicuspid aortic valve, Ventricular s... |
OMIM:607872 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Recurrent respiratory infections, Hepatomegaly, Abnormal heart valv... |
ORPHA:93473 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Pectus carinatum, Leukopenia, Hypoplasia of the thymus, Neutropeni... |
OMIM:612541 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Hydronephrosis, Polycy... |
ORPHA:2237 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Missing ribs, Pectus excavatum, Sh... |
OMIM:268310 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Sacral dimple, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
| 8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Sacral dimple, Splenomegaly, Patent ductus arteriosus, Sph... |
ORPHA:251066 |
| Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Sacral dimple, Hypospadias, Ventricular septal defect, Unilat... |
ORPHA:268261 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Cyanosis |
ORPHA:71277 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve... |
OMIM:615709 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia |
ORPHA:49827 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Renal hypopla... |
ORPHA:85321 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
| Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis, Acrocyanosis |
ORPHA:896 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve |
OMIM:617744 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... |
OMIM:613807 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Hyperlordosis, Arteria lusoria, Ab... |
ORPHA:221139 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Perianal er... |
OMIM:308205 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Scapular winging, Supernumerary ribs, Six lumbar vertebrae |
OMIM:619122 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... |
OMIM:232200 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ... |
ORPHA:139466 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
| Ellis-Van Creveld Syndrome |
|
Hypospadias, Epispadias, Pectus carinatum, Ectodermal dysplasia, Short ribs, Narrow chest, Atrial... |
OMIM:225500 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Renal hypoplasia, Scoliosis, Nephroblastoma, Venous malformation |
OMIM:612918 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Renal agenesis, Aplastic anemia, Short neck, Patent ductus arteriosus,... |
OMIM:300514 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Desbuquois Syndrome |
|
Bell-shaped thorax, Ventricular septal defect, Scoliosis, Short neck |
ORPHA:1425 |
| Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia, Polysplenia |
OMIM:617784 |
| Cryofibrinogenemia, Familial Primary |
|
Hematuria, Acrocyanosis, Transient nephrotic syndrome |
OMIM:123540 |
| Cooper-Jabs Syndrome |
|
Ventricular septal defect, Abnormal rib morphology, Scoliosis, Missing ribs |
ORPHA:1488 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Pectus excavatum, Pectus carinatum, Aortic root aneurysm, Scoliosis, A... |
OMIM:301039 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Hypopl... |
OMIM:617022 |
| Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Camptocormia, Renal hypoplasia, Tubulointers... |
OMIM:617595 |
| Abruzzo-Erickson Syndrome |
|
Atrial septal defect, Coronal hypospadias, Hypospadias, Abnormal localization of kidney |
ORPHA:921 |
| Charge Syndrome |
|
Secundum atrial septal defect, Hemivertebrae, Atrial septal defect, Pulmonary artery atresia, Mic... |
OMIM:214800 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:614582 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Cyanosis, Oliguria, Cardiomyo... |
ORPHA:159 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... |
ORPHA:1801 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Hypoxe... |
ORPHA:70587 |
| Noonan Syndrome 10 |
|
Ventricular septal defect, Short neck, Pectus excavatum, Patent ductus arteriosus, Palmoplantar c... |
OMIM:616564 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Mitral valve calcification, Hepatomegaly, Cyanosis, Bronchitis, Respirat... |
ORPHA:60025 |
| Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Recurrent pneumonia, Rib fusion, Hemivertebrae, Supernumerary ribs... |
OMIM:304050 |
| Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus arteriosus, Short thorax, ... |
ORPHA:261344 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... |
ORPHA:3427 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Ventricular septal defect, Thoracic hypoplasia, Abnormal heart morphology |
ORPHA:254534 |
| Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Dilated cardiomyopathy, Renal hypoplasia, Scoliosis |
ORPHA:37553 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Jaundice... |
ORPHA:1667 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Short thorax, Patent foramen ovale, Scoliosis |
ORPHA:88630 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia... |
ORPHA:1329 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Dilation of Virchow-Robin spaces, Rib fusion, Vascular skin abnormality |
ORPHA:544488 |
| Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis |
OMIM:615451 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, Short neck, Secundum atrial septal defect, Lymphangioma, Subarterial v... |
ORPHA:99646 |
| Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Spat... |
OMIM:253220 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
OMIM:619769 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Kyphoscoliosis, Patent ductus arteriosus, Oligosacchariduria, Pec... |
ORPHA:397709 |
| Townes-Brocks Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the k... |
ORPHA:857 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Short neck, Pectus excavatum, Patent ductus arteriosus, Muscular ventricul... |
OMIM:612474 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Patent... |
OMIM:251290 |
| Limb Body Wall Complex |
|
Ventricular septal defect, Abnormality of the kidney, Abnormal thorax morphology, Spina bifida oc... |
ORPHA:2369 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot |
OMIM:300887 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
| 20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Pectus carinatum |
ORPHA:261295 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... |
OMIM:232220 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short neck, Hypoplastic vertebral bodies, Coronal cleft vertebrae, Platyspo... |
ORPHA:2347 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Total anomalous pulmo... |
ORPHA:261183 |
| Potocki-Lupski Syndrome |
|
Atrial septal defect, Abnormal renal morphology, Patent foramen ovale, Scoliosis |
OMIM:610883 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Micropenis |
OMIM:613870 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Ventricular septal defect, Repeated pneumothoraces, Cutis marmorata, Pectus excavatu... |
OMIM:617602 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Sacral dimple, Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Tr... |
ORPHA:261337 |
| Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Vasculitis, Erythema, Cardi... |
OMIM:225750 |
| Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... |
OMIM:253010 |
| Tarp Syndrome |
|
Pectus excavatum, Subdural hemorrhage, Horseshoe kidney, Short sternum, Neonatal death, Hepatic f... |
OMIM:311900 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
| Recombinant 8 Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Pectus excavatum, Patent ductus arteriosus,... |
ORPHA:96167 |
| Pallister-Hall Syndrome |
|
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Ectopic kidney, Patent ductus ... |
ORPHA:672 |
| Congenital Tracheal Stenosis |
|
Cyanosis, Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Paten... |
ORPHA:141127 |
| Codas Syndrome |
|
Hydroureter, Ventricular septal defect, Extrahepatic biliary duct atresia, Abnormal form of the v... |
ORPHA:1458 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Short neck, Pectus excavatum, Coarctat... |
OMIM:616145 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab... |
ORPHA:477817 |
| Frontoocular Syndrome |
|
Pectus excavatum, Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Cutis marmorata, Ventricular septal defect, Leukemia |
OMIM:602501 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Nephrocalcinosis, Premature graying of hair, Atrial septal defect, Vesicou... |
OMIM:194050 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Patent ductus arte... |
ORPHA:77298 |
| Kbg Syndrome |
|
Vertebral fusion, Short neck, Epispadias, Rib fusion, Vertebral arch anomaly, Cervical ribs, Thor... |
OMIM:148050 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Short neck, Pancreatic lymphan... |
OMIM:235255 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
| Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
| Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short... |
OMIM:620076 |
| Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
| Congenital Myopathy 17 |
|
Pectus excavatum, Respiratory tract infection, Renal hypoplasia, Narrow chest, Pulmonary hypoplas... |
OMIM:618975 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ... |
OMIM:619167 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Lujan-Fryns Syndrome |
|
Pectus excavatum, Atrial septal defect, Scoliosis |
ORPHA:776 |
| Esophageal Atresia |
|
Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Renal agenesis, Bronchitis... |
ORPHA:1199 |
| Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebrae, Flaring ... |
ORPHA:168549 |
| Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect, Fetal pyelectasis |
OMIM:301058 |
| Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Thin ribs, Pulmonary hypoplasia, Hypoplastic heart |
OMIM:312150 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Pleural lymphangiectasia, Pericardial lymphangiectasia, Ventricular septal ... |
OMIM:235510 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu... |
OMIM:618901 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia, Abnormal heart morphology |
ORPHA:1867 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scoliosis, Bifid ribs, Hepatoblast... |
ORPHA:50 |
| Coffin-Siris Syndrome 6 |
|
Pectus excavatum, Atrial septal defect, Kyphoscoliosis |
OMIM:617808 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Ventricular septal defect, Kyphosis, Vascular ring, Atrial septal defect |
OMIM:603387 |
| Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Hemiver... |
OMIM:113000 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Lateral clavicle hook, Thoracic dysplasia, Short ... |
OMIM:615503 |
| Noonan Syndrome 7 |
|
Short neck, Pectus excavatum, Pectus carinatum, Shield chest, Pulmonic stenosis, Scoliosis, Atria... |
OMIM:613706 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Bronchiectasis, Spinal canal... |
OMIM:618282 |
| Aspergillosis |
|
Abnormality of the kidney, Pneumonia, Eosinophilia, Hypersensitivity pneumonitis, Abnormal rib mo... |
ORPHA:1163 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Cyanosis, Elevated circulating alanine aminotransferase concentration, R... |
OMIM:261680 |
| Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Atrial septal defect, Patent foramen... |
OMIM:618950 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Patent foramen ovale, Short neck |
OMIM:618821 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Reticuloc... |
OMIM:613309 |
| Chromosome 5Q12 Deletion Syndrome |
|
Sacral dimple, Ventricular septal defect, Short neck, Patent ductus arteriosus, Atrial septal def... |
OMIM:615668 |
| Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... |
OMIM:601005 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Prominent floating ribs, Stillbirth |
OMIM:152800 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Abnormality of the ureter |
ORPHA:1035 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short neck, Pancreatic lymphangiectasis, Splenomegaly, A... |
ORPHA:1655 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Cutis marmorata, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Renal tubular dysfunction, Atrial septal... |
OMIM:614886 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Kyphosis, Recurrent pneumonia, Pectus carinatum, Scoliosi... |
OMIM:616449 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Petechiae, Thrombocytopenia, Patent ductus arter... |
OMIM:617053 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Recurrent respiratory infections, Hepatomegaly, Pectus carinatum, Scoliosis, Atrial septal defect... |
OMIM:619383 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia |
OMIM:606232 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic cysts, Splenomegaly, Renal cyst, Polycystic kidney dysplasia |
OMIM:610199 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Asplenia, Polysplenia |
OMIM:612776 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Cranioectodermal Dysplasia 2 |
|
Cholangitis, Short neck, Renal cyst, Ectodermal dysplasia, Narrow chest, Atrial septal defect, Pa... |
OMIM:613610 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Sacral dimple, Hypospadias, Ventricular septal defect, Patent ductus arteri... |
OMIM:617516 |
| Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Thin clavicles, Patent fo... |
OMIM:228520 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Elevated hepatic transam... |
OMIM:260400 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616867 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the urethra, Abnormal rib morphology, Abnormality of the upper urinary tract, Apla... |
ORPHA:2145 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Prote... |
ORPHA:191 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal agenesis, Aplastic... |
ORPHA:2538 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Abnormal thorax morphology, Anomalous pulmonary venous return, Abnormal... |
ORPHA:2184 |
| Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Abnormal rib morphology, Neutropenia |
ORPHA:2643 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypoplastic scapulae, Hypospadias, Unilateral renal agenesis, Abnormal rib morphology, Dilatation... |
ORPHA:95699 |
| Van Maldergem Syndrome 1 |
|
Sacral dimple, Hypospadias, Renal hypoplasia, Narrow chest, Scoliosis, Short clavicles |
OMIM:601390 |
| Renpenning Syndrome |
|
Hypospadias, Pectus excavatum, Abnormal rib morphology, Heterotaxy, Sprengel anomaly |
ORPHA:3242 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Thin ribs, Pulmonary hypoplasia, Hypoplastic heart |
OMIM:253290 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Hypoxemia, Cystic patte... |
OMIM:610978 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hepatomegaly, Elevated hepatic transaminase, Hypospadias, Pulmonary... |
OMIM:301056 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Prematurely aged appea... |
ORPHA:1318 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Kyphoscoliosis, Renal duplication |
ORPHA:96190 |
| Tyshchenko Syndrome |
|
Ventricular septal defect, Pectus excavatum, Narrow chest, Pulmonic stenosis, Atrial septal defect |
OMIM:615102 |
| Postaxial Acrofacial Dysostosis |
|
Pectus excavatum, Micropenis, Abnormality of the kidney, Supernumerary vertebrae |
OMIM:263750 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Sacral dimple, Ventricular septal defect, Down-sloping shoulders, Short neck, Scoliosis, Atrial s... |
OMIM:617452 |
| Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Sacral dimple, Hydroureter, Hypospadias, Ventricular septal def... |
OMIM:135900 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy |
ORPHA:444013 |
| Achondrogenesis Type 1B |
|
Short neck, Short thorax, Abnormal rib morphology, Aplasia/Hypoplasia of the lungs, Narrow chest |
ORPHA:93298 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Recurren... |
OMIM:617751 |
| Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Spinal canal stenosis, Hypoplastic vertebral bodies, Scoliosis, Narrow... |
OMIM:101800 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... |
OMIM:616730 |
| Contractural Arachnodactyly, Congenital |
|
Congenital kyphoscoliosis, Bicuspid aortic valve, Ventricular septal defect, Kyphoscoliosis, Shor... |
OMIM:121050 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis, Atrial septal defect |
ORPHA:500533 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa... |
OMIM:602782 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Hepatosplenomegaly, Polycystic kidney dyspla... |
OMIM:614866 |
| Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Kyphoscoliosis, Patent ductus arteriosus, Nephrocalcinosis, Neutropenia, Atrial septal defect, Re... |
OMIM:618005 |
| Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Recurrent urinary tract infections, Mul... |
OMIM:614527 |
| Okamoto Syndrome |
|
Ventricular septal defect, Urinary incontinence, Splenomegaly, Abnormal left ventricle morphology... |
ORPHA:2729 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
| King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Thoracic kyphosis, S... |
OMIM:619542 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... |
OMIM:261740 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Nonspecific interstitial pneumonia, Crazy paving pattern, Cyanosis, Nodular pattern on pulmonary ... |
OMIM:610921 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Horseshoe kidney, Fused cervical vertebrae, Abnormal cardiac septum mo... |
ORPHA:3320 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis, Atrial septal defect |
OMIM:611087 |
| Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Ventricular septal ... |
OMIM:229850 |
| Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Central cyanosis, Pulmonic stenosis, Sub... |
OMIM:620067 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Short neck, Pectus excavatum, Patent ductus arteriosus, Telangiectasia... |
OMIM:612582 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
| Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Ventricular se... |
OMIM:117650 |
| Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, Pyelonephritis,... |
OMIM:181270 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Bile duct proliferation, Ventricular septal defect, Renal cyst |
OMIM:611134 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret... |
OMIM:616368 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615504 |
| Van Maldergem Syndrome 2 |
|
Sacral dimple, Hypospadias, Renal hypoplasia, Narrow chest, Short clavicles, Scoliosis, Micropenis |
OMIM:615546 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Decreased liver function, Elevated hepatic transaminase |
OMIM:615160 |
| Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis |
OMIM:614874 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Th... |
OMIM:619980 |
| Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped ribs, Hypoplasia of the... |
OMIM:156530 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615505 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect, Abnormal vertebral morphology |
ORPHA:261272 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis |
OMIM:607578 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Pat... |
OMIM:220500 |
| Rauch-Steindl Syndrome |
|
Hepatomegaly, Sacral dimple, Bilateral renal hypoplasia, Hyperechogenic kidneys, Exocrine pancrea... |
OMIM:619695 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Renal hypoplasia, Bone marrow hypocell... |
OMIM:614083 |
| Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
| Baller-Gerold Syndrome |
|
Abnormality of the kidney, Anomalous splenoportal venous system, Erythema, Rib fusion, Abnormal h... |
OMIM:218600 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308750 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ... |
OMIM:619608 |
| Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
| Kinsship Syndrome |
|
Sacral dimple, Short neck, Renal hypoplasia, Horseshoe kidney, Cervical ribs, Supernumerary ribs,... |
OMIM:619297 |
| Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis |
OMIM:617092 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Proteinuria, Pan... |
OMIM:208500 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... |
OMIM:600987 |
| Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Cyanosis, Scoliosis |
ORPHA:98913 |
| Tatton-Brown-Rahman Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Ventricular septal defect, Scoliosis |
OMIM:615879 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Patent ductus ... |
ORPHA:1517 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hydroureter, Unilateral renal agenesis, Short neck, Pectus excavatum, Kyphosis, Bilateral renal a... |
OMIM:619194 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Double outl... |
OMIM:618223 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent upper respiratory tract inf... |
OMIM:614868 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia |
OMIM:617914 |
| Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis |
OMIM:613193 |
| Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Short neck, Coarctation of aorta, Pulmonic stenosis |
OMIM:616559 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Recurrent... |
OMIM:617913 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal form of the vertebral bodies, Coarctat... |
ORPHA:371428 |
| Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... |
OMIM:258900 |
| Noonan Syndrome 13 |
|
Duplicated collecting system, Short neck, Mitral valve prolapse, Enlarged thorax, Scoliosis, Atri... |
OMIM:619087 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Pneumonia, Anomalous pulmonary veno... |
ORPHA:99104 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Poor wound healing, Bruising susceptibility, Scoliosis |
OMIM:619115 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Cyanosis, Ventricular septal defect, Patent ductus arteriosus,... |
ORPHA:97214 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Ventricular septal defect, Pectus excavatum, Kyphosis, Patent ductus arteriosus... |
OMIM:617061 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale, Hyperlordosis |
OMIM:615156 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... |
ORPHA:2473 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Low back pain, Renal insufficiency, Dysuria, Renovascular hypertension, Renal ... |
ORPHA:49041 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Recurrent shoulder dislocation, Thoracolumbar scoliosis, Kyphosc... |
ORPHA:230851 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux, Patent foramen ovale, Rig... |
OMIM:614261 |
| Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
| Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Hypoplastic spleen, Thin ribs |
OMIM:602361 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
| 3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Scoliosis,... |
ORPHA:435638 |
| Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subcutaneous lipoma, Subvalvular aortic stenosis, Atrial septal defect... |
OMIM:613001 |
| Noonan Syndrome 5 |
|
Short neck, Abnormal sternum morphology, Pulmonic stenosis, Atrial septal defect, Hypertrophic ca... |
OMIM:611553 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Renal hypoplasia/aplasia, Abnormal mesentery morphology, Abnormal ... |
ORPHA:2167 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
| Joubert Syndrome 3 |
|
Atrial septal defect, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Abnormality of the kidney, K... |
ORPHA:1724 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the ver... |
ORPHA:2234 |
| Nager Syndrome |
|
Unilateral renal agenesis |
ORPHA:245 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Splenomegaly, Stage 5 ... |
ORPHA:731 |
| Hypophosphatasia |
|
Emphysema, Abnormal rib morphology, Narrow chest, Anemia |
ORPHA:436 |
| Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Ventricular septal defect, Short neck, Platyspondyly, Th... |
ORPHA:85194 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
| Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Cardiomegaly, Abnormal retinal artery morphology, Medial ... |
ORPHA:51608 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Bicuspid aortic valve, Hypoplastic left heart, Scoliosis, Atrial septal defect, Thoracic hemivert... |
OMIM:619721 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Kyphosis, Abdominal situs inversus, Pulmonic stenosis, Atrio... |
OMIM:619123 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Lateral clavicle hook, Abnormal shoulder morphology, Atrial septal defect, ... |
OMIM:274000 |
| 19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Hypospadias, Short neck, Kyphosis, Scoliosis, Atrial septal defect, He... |
ORPHA:254346 |
| Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... |
ORPHA:699 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
| 15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis |
ORPHA:261190 |
| Koolen-De Vries Syndrome |
|
Atrial septal defect, Recurrent urinary tract infections, Vertebral fusion, Bicuspid aortic valve... |
OMIM:610443 |
| Microphthalmia, Syndromic 2 |
|
Hypospadias, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aorti... |
OMIM:300166 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Ventricular septal defect, Kyphosis, Recurrent pneumonia, Pectus carinatum, Male ure... |
ORPHA:464738 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Short neck, Lateral clavicle hook, Complete atrioventricular canal defect, Lo... |
OMIM:617925 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Scoliosis, Unilateral renal agenesis |
OMIM:618419 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cyanosis, Ventricular septal defect, Cardiomegaly, Renal cyst, Stroke-like episode,... |
ORPHA:137675 |
| Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Absent gallbladder, Hypospadias, Ventricular septal defect, Patent ductus ar... |
OMIM:300712 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
| Fraser Syndrome 1 |
|
Hypospadias, Aplasia/Hypoplasia of the sternum, Renal hypoplasia/aplasia, Renal hypoplasia, Abnor... |
OMIM:219000 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode |
OMIM:610992 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Patent ductus arteriosus, Hypospadias, Horseshoe kidney |
OMIM:218350 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308700 |
| Zaki Syndrome |
|
Sacral dimple, Renal agenesis, Patent ductus arteriosus, Scoliosis, Patent foramen ovale, Hydrone... |
OMIM:619648 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of... |
ORPHA:175 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Abnormality of the urinary syste... |
OMIM:244300 |
| Stevenson-Carey Syndrome |
|
Atrial septal defect, Recurrent urinary tract infections, Scoliosis, Left superior vena cava drai... |
OMIM:611961 |
| Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale |
OMIM:617182 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Horseshoe kidney, Coarctation of aorta, Apl... |
OMIM:617088 |
| Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Telangiectasia of... |
ORPHA:2092 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... |
ORPHA:284169 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Pectus excavatum, Hypoplastic aortic arch, Scoliosis, Unilateral renal agenesis |
ORPHA:457284 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
| Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Recurrent respiratory infections, Kyphosis, Abnormal rib morphology... |
ORPHA:628 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Hyperlordosis, Kyphosis, Patent duct... |
ORPHA:354 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615500 |
| Meckel Syndrome 12 |
|
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia |
OMIM:616258 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:608779 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
| Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney |
OMIM:266810 |
| Orofaciodigital Syndrome Xiv |
|
Ventricular septal defect, Epispadias, Patent ductus arteriosus, Aplasia of the epiglottis, Unila... |
OMIM:615948 |
| Greenberg Dysplasia |
|
Beaded ribs, Abnormal lung lobation, Hypoplastic vertebral bodies, Narrow chest, Absent or minima... |
OMIM:215140 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology, Coarctation of aorta |
ORPHA:280195 |
| Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Pectus excavatum, Patent ductus arte... |
OMIM:609942 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Pectus excavatum, Abnormal rib ca... |
OMIM:270450 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
| Lymphatic Malformation 6 |
|
Pectus excavatum, Splenomegaly, Pleural effusion, Varicose veins, Chylothorax, Scoliosis, Atrial ... |
OMIM:616843 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Lumbar hyperlordosis, Pneumonia, Ovoid vertebral bodies, Kyphoscoliosis, Anterior w... |
OMIM:253200 |
| Juberg-Hayward Syndrome |
|
Hypospadias, Abnormal rib morphology, Horseshoe kidney, Scoliosis, Abnormal vertebral morphology |
ORPHA:2319 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... |
ORPHA:2180 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Cyanosis, Petechiae, Thrombocytopenia, Leukocytosis, Splenomegaly, Jaundice, Oligur... |
ORPHA:90051 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Methemoglobinemia |
ORPHA:621 |
| Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Scapular winging, Lumbar hyperlordosis, Short neck, Pectus excavatum, Paten... |
OMIM:609625 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Hypospadias, Scoliosis, Atrial septal defect, Patent foramen ovale |
OMIM:619184 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Ventricular septal defect, Short neck, Scoliosis, Micropenis, Narrow vertebral ... |
OMIM:620073 |
| Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Abnormal heart valve morphology, Ureteral obstruction, Abnormal rib morphology, Abno... |
ORPHA:90652 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... |
OMIM:614300 |
| H Syndrome |
|
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly |
ORPHA:168569 |
| Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, Neutrope... |
ORPHA:124 |
| Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Kyphosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
| Caroli Disease |
|
Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia |
ORPHA:53035 |
| Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae |
OMIM:193500 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Recurrent pn... |
OMIM:607143 |
| Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly,... |
OMIM:615673 |
| Grant Syndrome |
|
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest |
ORPHA:2097 |
| Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Scoliosis, Pulmonic stenosis |
OMIM:618205 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis |
ORPHA:1064 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Short neck, Short ribs, Polycystic kidney dysplasia, Narrow chest, Atrial sept... |
OMIM:616546 |
| Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
| Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Hypospadias, Absence of the pulmonary valve, Ventricular septal... |
OMIM:601808 |
| Mogs-Cdg |
|
Hepatomegaly, Thoracic scoliosis, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ve... |
ORPHA:79330 |
| Kury-Isidor Syndrome |
|
Sacral dimple, Ventricular septal defect, Short neck, Scoliosis, Hydronephrosis |
OMIM:619762 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... |
ORPHA:449395 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Short neck, Vertebral segmentation defect, Hepatoblast... |
ORPHA:373 |
| High Altitude Pulmonary Edema |
|
Hypoxemia, Leukocytosis, Cyanosis, Pulmonary edema |
ORPHA:330012 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Hyposegmentation of neutrophil nuclei, Patent foramen ovale, Kyphoscoliosis |
OMIM:620075 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like episode, He... |
OMIM:185070 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Thin ribs, Wafer-thin platyspondy... |
OMIM:151210 |
| Alazami Syndrome |
|
Atrial septal defect, Cutis marmorata, Scoliosis |
ORPHA:319671 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Pectus excavatum, Patent ductus arteriosus, Abnormal lung lobation, Hypercalciuria, Renal cyst, A... |
ORPHA:369837 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect, Exocrine pancreatic ins... |
ORPHA:452 |
| Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Cardiomyopathy, Platyspondyly, Ur... |
ORPHA:79255 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Hyperlordosis, Mitral valve prolapse, Pectus carinatum, Scoliosis, Atrial septal defect |
OMIM:300986 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
| 16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal intrahepatic bile duct morpho... |
ORPHA:485405 |
| Holt-Oram Syndrome |
|
Thoracic scoliosis, Ventricular septal defect, Pectus excavatum, Secundum atrial septal defect, P... |
OMIM:142900 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis |
OMIM:620327 |
| Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Urinary incontinence, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial ... |
OMIM:620070 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Ventricular septal defect, Bilobate gallbladder, Short neck, P... |
OMIM:261540 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Short neck, Short thorax, Aplasia/Hypoplasia of the lungs, Narrow chest |
ORPHA:93299 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Recurrent respiratory infections, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal ... |
ORPHA:2759 |
| Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Short neck, Patent ductus arteriosus, Tetralogy o... |
ORPHA:2328 |
| Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... |
OMIM:612528 |
| Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Renal agenesis, Ectopic ki... |
OMIM:227645 |
| Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Cyanosis, Leukocytosis, Pneumothorax, Hypoxemia |
ORPHA:1302 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Pectus excavatum, Patent ductus a... |
OMIM:300472 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Mosaic Trisomy 1 |
|
Hepatic agenesis, Thoracic scoliosis, Ventricular septal defect, Renal cortical cysts, Renal cyst... |
ORPHA:1692 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial ef... |
ORPHA:26793 |
| Sotos Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Muscular ventricu... |
OMIM:117550 |
| Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Short neck, Abnormal rib ... |
ORPHA:3015 |
| Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Heparan sulfate ex... |
OMIM:252940 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Hypospadias, Atelectasis, Glandular hypospadias, Thin ribs, Neonatal death, Micropenis, Penile hy... |
OMIM:300219 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent ... |
OMIM:265120 |
| Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect |
OMIM:612527 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| 7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Patent ductus arteriosus after birth at term, Enuresis nocturna... |
ORPHA:251061 |
| Proboscis Lateralis |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral agenesis... |
ORPHA:141099 |
| C Syndrome |
|
Fused sternal ossification centers, Hepatomegaly, Ventricular septal defect, Patent ductus arteri... |
OMIM:211750 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
| Distal Deletion 10Q |
|
Atrial septal defect, Scapular winging, Lumbar hyperlordosis, Pectus excavatum, Patent ductus art... |
ORPHA:96148 |
| Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis |
OMIM:259440 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... |
OMIM:169400 |
| Stromme Syndrome |
|
Accessory spleen, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
| Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery hypoplasia, Scoliosis, Atri... |
OMIM:300963 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Missing ribs, Abnormal... |
ORPHA:3027 |
| Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,... |
OMIM:616028 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Hypospadias, Pulmonary arte... |
OMIM:611812 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Unilateral renal agenesis, Sacrococcygeal pilonidal abnormality, Microphallus, Abnor... |
ORPHA:468631 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology, Pulmonary hypoplasia, Abnormal form of the vertebral bodies, Short neck |
ORPHA:1486 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Short neck, Pectus excavatum, Patent ductus arteriosus, Scoliosis |
ORPHA:52055 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia |
OMIM:223350 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Renal hypoplasia/aplasia, Short neck, Kyphosi... |
ORPHA:958 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Short neck, Abnormal lung lobation, Abnormal form of the vertebral bodies, A... |
ORPHA:818 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Scoliosis |
ORPHA:398156 |
| Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Scapular winging, Ventricular septal defect, Kyphoscoliosis,... |
OMIM:615582 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis |
ORPHA:457193 |
| Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia |
OMIM:200980 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... |
ORPHA:453499 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morphology, Pulmonary hypoplasia |
ORPHA:3035 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Intralobular septal thick... |
OMIM:610913 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Sacral dimple, Ventricular septal defect, Short neck, Scoliosis, Atrial septal defect |
ORPHA:505237 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... |
OMIM:608647 |
| Tetrasomy 5P |
|
Recurrent respiratory infections, Cyanosis, Short neck, Pectus excavatum, Pulmonary hypoplasia |
ORPHA:3309 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Poems Syndrome |
|
Pericardial effusion, Lymphadenopathy, Acrocyanosis, Thrombocytosis, Pleural effusion, Sclerotic ... |
ORPHA:2905 |
| Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Short tho... |
OMIM:200600 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Abnormal medullary pyramid morphology, Recurrent aspiration pneumonia |
ORPHA:79243 |
| Coffin-Siris Syndrome |
|
Hypospadias, Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Recurrent upper... |
ORPHA:1465 |
| Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Cutis marmorata, Aciduria, Calcium oxalate nephroli... |
ORPHA:416 |
| Cardioacrofacial Dysplasia 2 |
|
Long thorax, Narrow chest, Left superior vena cava draining to coronary sinus, Common atrium, Atr... |
OMIM:619143 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
| 20Q13.33 Microdeletion Syndrome |
|
Sacral dimple, Dilation of Virchow-Robin spaces, Hypospadias, Abnormal cardiac ventricle morpholo... |
ORPHA:261311 |
| Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Abnormal heart morphology, Scoliosis, Vesicoureteral reflux |
ORPHA:494344 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia |
ORPHA:3405 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
| Chromosome 9P Deletion Syndrome |
|
Hypospadias, Ventricular septal defect, Short neck, Patent ductus arteriosus, Perimembranous vent... |
OMIM:158170 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Missing ribs, Pectus ex... |
OMIM:147791 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Recurrent sinopulmonary infections, Hepatomegaly, Cardiomegaly, Hep... |
ORPHA:581 |
| Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Pectus carinatum, Narrow chest, Hepatic steatosis, Hepatomegaly, Membranoproli... |
OMIM:619525 |
| Distal Deletion 12Q |
|
Ectopic kidney, Congenital hypertrophy of left ventricle, Polycystic kidney dysplasia, Vesicouret... |
ORPHA:96149 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Short neck |
ORPHA:284417 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short neck, Pneumothorax, Abnormal rib morphology, Renal hypoplasia, O... |
ORPHA:3404 |
| Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly... |
ORPHA:667 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Short nec... |
OMIM:130720 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Short neck, Kyphosis, Abnormal rib morphology, Pectus carinatum |
ORPHA:3082 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs |
OMIM:122860 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:620197 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
| Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Hepatic cysts, Abnormal renal arter... |
ORPHA:79328 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia |
OMIM:607361 |
| Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis |
OMIM:617450 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Short neck, Renal cyst, Short sternum,... |
OMIM:257300 |
| Buratti-Harel Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Hypospadias, Recurrent pneumonia |
OMIM:619314 |
| Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis, Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Myeloid leu... |
ORPHA:404443 |
| Brain-Lung-Thyroid Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Hypospadias, Ventricular septal defect, R... |
ORPHA:209905 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:311200 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Patent foramen ovale, Hydronephrosis, Scoliosis |
OMIM:619179 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Polycystic ovaries, N... |
ORPHA:79259 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect |
ORPHA:93946 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Ventricular septal defect, Microvesicul... |
OMIM:619418 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Atrial septal defect, Hydroureter, Bicuspid aortic valve, Valvular pul... |
OMIM:300707 |
| Diphallia |
|
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... |
ORPHA:227 |
| Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Hypospadias, Mitral stenosis, Ventricular septal defect, Coarctation of aort... |
ORPHA:2008 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:614935 |
| Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Short neck, Patent ductus arteriosus, Atrial septal defect, Micropenis, Medullary ne... |
ORPHA:363528 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... |
ORPHA:2637 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar... |
OMIM:219730 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Recurrent respiratory infections, Cyanosis, Kyphoscoliosis, Spina... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Recurrent respiratory infections, Cyanosis, Kyphoscoliosis, Spina... |
ORPHA:590 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Ureteral stenosis, Hypospadias, Hydroureter, Short neck,... |
OMIM:269150 |
| Neurofaciodigitorenal Syndrome |
|
Pectus excavatum, Unilateral renal agenesis |
ORPHA:2673 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Cyanosis, Hypospadias, Splenomegaly, Concentric hyp... |
OMIM:252010 |
| Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Left atrial enlargement, Right ventricular dilatation... |
ORPHA:99106 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Short thorax, Renal hyp... |
ORPHA:93271 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Short sternum, Pulmonary artery atresia, Pat... |
OMIM:620113 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Patent duc... |
OMIM:214100 |
| Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary artery stenosis, Pat... |
OMIM:190685 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Recurrent lower respiratory tract infections, Pectus carinatum |
OMIM:620194 |
| Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
| Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
| Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Pulmonary hypoplasia, Situs inversus totalis |
OMIM:202650 |
| Al Kaissi Syndrome |
|
Atrial septal defect, Sacral dimple, Hemivertebrae |
OMIM:617694 |
| Opitz Gbbb Syndrome |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Abnormal ... |
ORPHA:2745 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Ao... |
OMIM:620025 |
| Kleefstra Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid... |
ORPHA:261494 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal thorax morphology, Abnormal form of the ver... |
ORPHA:73230 |
| Seckel Syndrome 9 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... |
OMIM:616777 |
| 3M Syndrome |
|
Scapular winging, Hypospadias, Abnormal cerebral vascular morphology, Short neck, Hyperlordosis, ... |
ORPHA:2616 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Vasculitis, Erythema, Lymphadenopathy, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Pulmonary artery atresia, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis |
ORPHA:1908 |
| Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Vertebral fusion, Ventricular septal defect, Short neck, Hemivertebrae, Pect... |
OMIM:178110 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
| Noonan Syndrome 1 |
|
Pectus excavatum of inferior sternum, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic l... |
OMIM:163950 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Recurrent respiratory infections, Sacral dimple, Patent ductus arteriosus, Scoli... |
OMIM:300968 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Membranoproliferative glomerulonephritis, Proteinuria, Glom... |
ORPHA:48435 |
| Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
| Frontometaphyseal Dysplasia 1 |
|
Scapular winging, Hydroureter, Cor pulmonale, Mitral valve prolapse, Fused cervical vertebrae, Co... |
OMIM:305620 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Hypospadias, Pulmonary artery stenos... |
OMIM:300998 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect, Hypospadias, Thoracolumbar scoliosis, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
| Cardiofaciocutaneous Syndrome 1 |
|
Short neck, Pectus excavatum, Splenomegaly, Pectus carinatum, Shield chest, Pulmonic stenosis, Sc... |
OMIM:115150 |
| Coffin-Siris Syndrome 7 |
|
Pectus excavatum, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Splenomegaly, Fused cervical vertebrae, Pulmonary fibrosis, Flaring o... |
OMIM:612852 |
| Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Thoracic kyphosis, Scoliosis, Intercostal muscle weakness... |
ORPHA:70 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Hypospadias, Ventricular septal defect, Complete atrioventricular canal defec... |
OMIM:617063 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect |
ORPHA:521308 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Atrial septal defect, Aortic v... |
ORPHA:459061 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin... |
OMIM:610168 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Hypospadias, Coarctation of aorta |
ORPHA:1923 |
| Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Patent foramen ovale, Short neck, Abnormal heart morphology |
ORPHA:369891 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:612518 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Peripheral pulmonary artery stenosis, Progeroid facial appearance, Atelectasis,... |
OMIM:613177 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
11 pairs of ribs, Bicuspid aortic valve, Cardiomegaly, Short neck, Pectus carinatum, Mitral valve... |
OMIM:245600 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hypospadias, Ventricular septal defect, Increased mean platelet volume, Abnormality... |
OMIM:222470 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Scrotal hypospadias, Hypospadias, Micropenis, Methemoglobinemia |
OMIM:250790 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
| Lymphatic Malformation 7 |
|
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Anemia... |
OMIM:617300 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney |
OMIM:252500 |
| Kawasaki Disease |
|
Pericarditis, Proteinuria, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, V... |
ORPHA:2331 |
| Caroli Syndrome |
|
Hepatomegaly, Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
| Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Missing ribs, Abnormal lung lobation... |
ORPHA:3301 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Pectus excavatum, Vertebral segmentation defect, Pulmonary hypoplasia,... |
OMIM:612530 |
| Fg Syndrome Type 1 |
|
Sacral dimple, Hypospadias, Facial wrinkling, Mitral valve prolapse, Coarctation of aorta, Abnorm... |
ORPHA:93932 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect, Hypospadias |
OMIM:618109 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro... |
OMIM:619991 |
| Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Pectus excav... |
OMIM:249420 |
| Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Nephroblastoma, Ventricular septal defect, Short neck |
OMIM:610832 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Short neck, Pectus excavatum, Patent ductus arteriosus, Hypoplastic ao... |
OMIM:617506 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Scoliosis, Atrial se... |
ORPHA:457279 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
| Keutel Syndrome |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Ventricular septal defect, Recurrent... |
ORPHA:85202 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Poor wound healing, Mitral valve prolapse |
OMIM:615539 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Short neck, Microvesicular he... |
OMIM:300855 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Pectus excavatum, Thin ribs, Abnormal thymus morphology, Lumbar hemivertebrae, Muco... |
ORPHA:2463 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cutis marmorata, Short neck, Patent ductus arteriosus, Hypertrophic ca... |
OMIM:612938 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Reduced alpha/b... |
OMIM:301040 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Proximal tubulopathy, Renal cyst |
OMIM:602579 |
| Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Jaundice, Hep... |
ORPHA:912 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Pectus excavatum, Patent ductus arteriosus, Atrial septal defect, Annular pancreas, Bruising susc... |
OMIM:618162 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Scoliosis |
OMIM:617635 |
| Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Abn... |
OMIM:227650 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Atrial septal defect, Ureteral hypoplasia, Bladder trabecu... |
OMIM:614080 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Kyphoscoliosis, Pectus excavatum, Secundum atrial septal defect, ... |
ORPHA:1600 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Thoracic Outlet Syndrome |
|
Varicose veins, Abnormal rib morphology |
ORPHA:97330 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, Pulmonary hypoplasia, Pa... |
OMIM:616866 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:1770 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
| Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Recurrent aspiration pneumonia, Short neck, Patent ductus arteriosus, Hypertrophy of... |
ORPHA:280633 |
| Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:145420 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Vesicoureteral reflux, Recurrent upper respiratory tract infections, Ventricular septal defect |
ORPHA:3078 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Pectus carinatum, Abnormal sternum morphology,... |
OMIM:613795 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Splenomegaly, Abnormality of the ureter, Polycystic ki... |
OMIM:249000 |
| Familial Dysautonomia |
|
Abnormal peritoneum morphology, Glomerulopathy, Renal insufficiency, Recurrent respiratory infect... |
ORPHA:1764 |
| Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Ret... |
OMIM:600901 |
| Larsen Syndrome |
|
Vertebral fusion, Ventricular septal defect, Cervical kyphosis, Pectus excavatum, Pectus carinatu... |
OMIM:150250 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale, Scoliosis |
OMIM:614961 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Pectus excavatum, Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria |
OMIM:616901 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Pectus exc... |
ORPHA:79329 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
| Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Patent ductus arteriosus, Spinal canal stenosis,... |
OMIM:277600 |
| Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Abnormal mitral valve morphology, Kyphosis, Splenomegaly, Hepat... |
ORPHA:576 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop... |
OMIM:615474 |
| Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Short neck, Paten... |
OMIM:610759 |
| Dysosteosclerosis |
|
Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly, Ventricular septal de... |
ORPHA:1782 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Scoliosis |
OMIM:601357 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Abnormal form of the vertebral bodies, Pectus carinatum, Narrow chest, Abnorma... |
ORPHA:666 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral va... |
OMIM:107480 |
| Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect |
OMIM:618354 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Sacral dimple, Hypospadias, Ventricular septal defect, Abnorm... |
ORPHA:2438 |
| Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Short neck, Pectus excavatum, Excessive wrinkled skin, Pulmonic ... |
ORPHA:1340 |
| Coccidioidomycosis |
|
Renal insufficiency, Pericarditis, Abnormality of the kidney, Pneumonia, Eosinophilia, Abnormalit... |
ORPHA:228123 |
| Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, Pectus excavatum, Horseshoe kidney, Pectus carinatu... |
OMIM:272950 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Proteinuria |
ORPHA:2143 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... |
OMIM:619573 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal renal morphology, Coarctation of aorta, Abnormal heart morpho... |
ORPHA:2209 |
| Phakomatosis Pigmentokeratotica |
|
Unilateral renal hypoplasia, Nephroblastoma, Scoliosis, Renal transitional cell carcinoma |
ORPHA:2874 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Cardiac fibroma, Cardiac... |
OMIM:109400 |
| Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Multicystic kidney dysplasia, Ventricular septal defect, Pectus excavatum, ... |
OMIM:300373 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Prominent superficial blood vessels, Hypospadias, Kyphoscoliosis, Thin clav... |
OMIM:275210 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Cutis marmorata, Cardiomegaly, Neonatal alloimmune thrombocytopeni... |
ORPHA:51 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Sacral dimple, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:257920 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect, Vertebral segmentation defect |
ORPHA:1915 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Fetal pyelectasis, Pectus carinatum, Ectodermal dysplasia, Atrial septal d... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Fetal pyelectasis, Pectus carinatum, Ectodermal dysplasia, Atrial septal d... |
ORPHA:363958 |
| Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Micropenis, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
| Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, Atrial septal defect, Hypospadias, Patent ductus arteriosus... |
ORPHA:84 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sul... |
ORPHA:217085 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, ... |
ORPHA:488627 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
| Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Recurrent pneumonia, Nephrolithiasis, Thin ribs, Plat... |
OMIM:613848 |
| Hajdu-Cheney Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Hypospadias, Mitral stenosis, Ventricular septal ... |
ORPHA:955 |
| Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Ventricular septal defect, Horseshoe kidney, Scoliosis, Tetralo... |
OMIM:174300 |
| Cenani-Lenz Syndrome |
|
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:3258 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Transient ischemic attack, Pneumonia, Right ventricular dilatation, Stroke, Abnormal mi... |
ORPHA:99103 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Abnormal rib morphology, Pectus carinatum |
ORPHA:93351 |
| Bdv Syndrome |
|
Atrial septal defect, Micropenis |
OMIM:619326 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaki... |
OMIM:609616 |
| Ring Chromosome 12 Syndrome |
|
Pectus excavatum, Secundum atrial septal defect, Lumbar hyperlordosis, Glandular hypospadias |
ORPHA:1439 |
| Lateral Meningocele Syndrome |
|
Ventricular septal defect, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal form o... |
ORPHA:2789 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Bicuspid aortic valve, Ventricular septal defect, Kyphoscoliosis, Short neck, O... |
OMIM:271640 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Ventricular septal defect, Kyphoscoliosis, Progeroid facial a... |
ORPHA:2962 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Vesicoureteral reflux, Atrial septal defect, Peripheral pulmonary artery stenosis |
OMIM:614749 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Kyphosis, Patent d... |
OMIM:616894 |
| Genitopatellar Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Pulmonary hypoplasia, Hydronephrosis |
ORPHA:85201 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Ventricular septal defect, Thrombocytopenia, Patent ductus arter... |
ORPHA:163979 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Kyphosis, Posterior rib gap, Bell-shaped... |
ORPHA:1393 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Atrial septal defect, Hepatomegaly, Bilateral fetal pyelectasis, Sh... |
OMIM:300868 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sul... |
ORPHA:217093 |
| Restrictive Dermopathy 2 |
|
Cyanosis, Short clavicles |
OMIM:619793 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Pectus excavatum, Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect |
OMIM:309520 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Sacral dimple, Patent ductus arteriosus, Scoliosis |
ORPHA:261279 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Hypoplasia of penis, Abnormal rib morphology, Pectus carinatum |
ORPHA:3068 |
| Spondyloocular Syndrome |
|
Mitral valve prolapse, Shield chest, Pectus carinatum, Platyspondyly, Atrial septal defect, Verte... |
OMIM:605822 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Proteinuria, Elevated he... |
OMIM:619127 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Intraalveolar phospholipid a... |
OMIM:610910 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis, Methemoglobinemia |
ORPHA:464453 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Hypospadias, Mitral stenosis, Ventricular septal defect, Patent... |
ORPHA:163956 |
| Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Pat... |
OMIM:227646 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Hyperlordosis, Thoracic platyspondyly, Paten... |
ORPHA:457395 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Hemivertebrae, Abnormal aortic arch morphology, Narrow chest, Atrial septal defect, H... |
ORPHA:96334 |
| Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
| Microphthalmia, Syndromic 1 |
|
Hydroureter, Hypospadias, Down-sloping shoulders, Bicuspid aortic valve, Renal hypoplasia/aplasia... |
OMIM:309800 |
| Bohring-Opitz Syndrome |
|
Atrial septal defect, Sacral dimple, Ventricular septal defect, Hyperechogenic pancreas, Vesicour... |
OMIM:605039 |
| Jacobsen Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Missin... |
ORPHA:2308 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Long clavicles, Severe B lymphocytopenia, Biliary hyperplasia, Thin ribs, Cleft ver... |
ORPHA:83617 |
| Unilateral Polymicrogyria |
|
Cyanosis, Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology |
ORPHA:268943 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... |
OMIM:618775 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Ventricular septal defect, Scoliosis, Abnormal heart morphology |
ORPHA:404440 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Glandular hypospadias, Thin ribs, Micropenis, Penile hypospadias, Penoscrotal hypospadias |
ORPHA:456328 |
| Roberts Syndrome |
|
Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
| Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect |
OMIM:617201 |
| Severe Congenital Nemaline Myopathy |
|
Hypospadias, Abnormal thorax morphology, Thin ribs, Pulmonary hypoplasia, Micropenis |
ORPHA:171430 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,... |
ORPHA:391487 |
| Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Scoliosis |
OMIM:617360 |
| Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Ventricular septal defect, Short sternum, Proteinuria |
OMIM:222448 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... |
OMIM:102700 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies,... |
ORPHA:2021 |
| Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Left atrial enlargement, Progeroid facial appearance, Thin ribs, Rib... |
OMIM:614008 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Horseshoe kidney, Ves... |
OMIM:619103 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
| White-Sutton Syndrome |
|
Duplicated collecting system, Short neck, Patent ductus arteriosus, Atrial septal defect, Patent ... |
OMIM:616364 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney |
ORPHA:508 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
| 17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
| Kabuki Syndrome 2 |
|
Horseshoe kidney, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Atrioventricular... |
OMIM:300867 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Kyphoscoliosis, Renal hypoplasia/aplasia, Pectus excavatum, Hyperlordo... |
ORPHA:363700 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... |
OMIM:612863 |
| Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormal rib morphology, Platyspondyly, Abnor... |
ORPHA:2588 |
| Trisomy 18 |
|
Ventricular septal defect, Abnormality of the upper urinary tract, Abnormal rib morphology, Atria... |
ORPHA:3380 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... |
ORPHA:261330 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Abnormal renal morphology, Narrow chest |
OMIM:207410 |
| Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney |
OMIM:612284 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Ectodermal dysplasia, Micropenis |
OMIM:106260 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Cutis marmorata |
OMIM:613398 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Sacral dimple, Prematurely... |
OMIM:619950 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
| Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
| Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Sacral dimple, Patent ductus arteriosus, Scoliosis |
OMIM:605130 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
| Alg12-Cdg |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hypospadias, Recurrent pharyngit... |
ORPHA:79324 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Ventricular hypertrophy, Ventricular septal defect, Nephrolithiasis |
ORPHA:369929 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna |
OMIM:615873 |
| Ogden Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect, Scoliosis |
ORPHA:276432 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... |
ORPHA:239 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarct... |
OMIM:600460 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis, Thin ribs |
OMIM:618265 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus |
ORPHA:1790 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:1836 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Subvalvular aortic steno... |
OMIM:614114 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Mediastinal lymphadenopathy, Cyanosis |
ORPHA:91359 |
| Sweeney-Cox Syndrome |
|
Asplenia, Patent ductus arteriosus, Narrow chest, Short clavicles, Patent foramen ovale |
OMIM:617746 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hepatic steatosis, Hepatomegaly,... |
ORPHA:17 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Lateral clavicle hook, Pectus excavatum, Thin ribs, Pectus carinatum, Mitral valve prolapse, C1-C... |
OMIM:182212 |
| Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Ovoid vertebral bodies, Coarctation of aorta, Bell-shaped thorax, Atri... |
OMIM:244450 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Acrocyanosis, Macular purpura, Hepatic failure, Thrombocytopenia |
ORPHA:49566 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Ectopic kidney, Short neck, Enlarged thorax, Hepatic fibrosis, Atrial sept... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, Short neck, Enlarged thorax, Hepatic fibrosis, Atrial sept... |
ORPHA:99228 |
| Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, Short neck, Enlarged thorax, Hepatic fibrosis, Atrial sept... |
ORPHA:99226 |
| Turner Syndrome |
|
Bicuspid aortic valve, Ectopic kidney, Short neck, Enlarged thorax, Hepatic fibrosis, Atrial sept... |
ORPHA:881 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Beaking of vertebral bodies, Prominent scalp veins, Congenital kyphoscoliosis, Abnormal heart val... |
ORPHA:536471 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Ventricular septal defect, Kyphoscoliosis... |
OMIM:602535 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia |
ORPHA:110 |
| Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation, Hypoxemia, Foam cells |
ORPHA:747 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal scapula morphology, Myocarditis, Abnormal rib morphology, Platyspondyly, Narrow chest |
ORPHA:93317 |
| Distal Xq28 Microduplication Syndrome |
|
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foramen ovale |
ORPHA:293939 |
| Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Prominent superficial blood vessels, Mitral ... |
ORPHA:740 |
| 19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Kyphoscoliosis |
ORPHA:447980 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Atrial septal defect, Recurrent urinary tract infections, Recurrent respiratory infections, Hypos... |
ORPHA:353281 |
| Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Cardiac fibroma, Abnormality of ... |
ORPHA:77301 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Prominent superficial blood vessels, Pectus cari... |
OMIM:619472 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pectus excavatum, Splenomegaly, Patent ductus arteriosus... |
OMIM:618268 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Secundum atrial septal defect |
OMIM:608688 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Myocarditis, Pl... |
OMIM:250220 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly |
OMIM:608940 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Hypoplastic right heart, Kyphoscoliosis, Pneumothorax, Ascen... |
OMIM:617403 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatomegaly, Renal cyst |
ORPHA:79303 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Ventricular septal defect, Short neck, Abnormal sternum morphology,... |
OMIM:607721 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
| Rubinstein-Taybi Syndrome 1 |
|
Aortic isthmus hypoplasia, Hepatic hemangioma, Atrial septal defect, Spina bifida occulta, Patent... |
OMIM:180849 |
| Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
| Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Varicose veins, Chylothorax, Tetra... |
OMIM:153400 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Hypertrophic cardiomyopathy, Scoliosis |
OMIM:619121 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve |
OMIM:619720 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Cupped ribs, Short ribs, Kyphoscoliosis |
ORPHA:1145 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Cyanosis, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hema... |
ORPHA:31826 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst, Hepatomegaly |
OMIM:601539 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Recurrent respiratory infections, Patent ductus arteriosus, Scoliosis, Vesicoureteral reflux, Pat... |
OMIM:618076 |
| 19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias |
ORPHA:217346 |
| Mosaic Trisomy 8 |
|
Short neck, Abnormal rib morphology, Vertebral segmentation defect, Narrow chest, Scoliosis, Vesi... |
ORPHA:96061 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Renal hypoplasia/aplasia, Missing ribs, Abnormal localizati... |
ORPHA:3186 |
| Codas Syndrome |
|
Ventricular septal defect, Hypoplasia of the odontoid process, Coronal cleft vertebrae, Lumbar sc... |
OMIM:600373 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Stillbirth, Short ribs, Horizontal ribs |
OMIM:200610 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Osteogenesis Imperfecta, Type Ii |
|
Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Thoracic hypoplasia |
OMIM:166210 |
| Sotos Syndrome |
|
Ureteral duplication, Atrial septal defect, Vesicoureteral reflux, Abnormal vertebral morphology,... |
ORPHA:821 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Ethylmalonic aciduria, Petechiae |
ORPHA:51188 |
| 16P13.11 Microdeletion Syndrome |
|
Pectus excavatum, Atrial septal defect, Ventricular septal defect |
ORPHA:261236 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Subcutaneous lipoma, Patent ductus arteriosus, Abnormal heart morphology, Midc... |
ORPHA:79076 |
| Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Sacrococcygeal teratoma, Myeloid leukemia, Hypospadias, Kyphoscolio... |
ORPHA:798 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Renal agenesis, Mitral atresia, Ectopic kidney, Pulmonary artery stenosis, H... |
ORPHA:140952 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Ectopic kidney, Pectus excavatum, Patent ductus arteriosus, Atrial sep... |
ORPHA:1519 |
| Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of... |
ORPHA:221 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Vertebral clefting, Hypoplastic left heart, ... |
OMIM:301043 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Kyphoscoliosis, Pneumothorax, M... |
OMIM:617402 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Ethylmalonic aciduria, Petechiae |
OMIM:602473 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Thrombocytopenia, Scoliosis |
ORPHA:457351 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Short neck, Pec... |
OMIM:620369 |
| Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Scoliosis... |
OMIM:614609 |
| Monosomy 13Q34 |
|
Common atrium, Fetal pyelectasis, Hepatic steatosis, Pulmonic stenosis |
ORPHA:96168 |
| Costello Syndrome |
|
Barrel-shaped chest, Renal insufficiency, Ventricular septal defect, Short neck, Pneumothorax, Pe... |
OMIM:218040 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Thoracolumbar kyphoscoliosis, Short neck, Pectus excavatum, Abnormal r... |
OMIM:212066 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Thoracic scoliosis, Absent sternal ossifica... |
OMIM:114290 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect |
OMIM:614526 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
| Oculoectodermal Syndrome |
|
Transient ischemic attack, Short neck, Patent ductus arteriosus, Coarctation of aorta, Atrial sep... |
OMIM:600268 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Arteria lusoria, Cutaneous photosensitivity, Scoliosis, Vesicoureteral reflux, Micropenis, Pelvic... |
OMIM:618653 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Pectus excavatum, Pneumothorax, Fragile skin, Mitral valve prolapse, Nephrotic syndrome, Tricuspi... |
OMIM:601776 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral ... |
OMIM:618395 |
| Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... |
OMIM:616652 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... |
OMIM:612921 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Mitral valve prolapse, Bladder diverticulum, Sho... |
ORPHA:287 |
| Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal lung lobation, Renal hyp... |
ORPHA:2052 |
| Cleidocranial Dysplasia |
|
Recurrent respiratory infections, Hypoplastic scapulae, Down-sloping shoulders, Abnormal sacrum m... |
ORPHA:1452 |
| Myhre Syndrome |
|
Vertebral fusion, Ventricular septal defect, Short neck, Pericardial effusion, Patent ductus arte... |
OMIM:139210 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se... |
ORPHA:99094 |
| Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Recurrent respiratory infections, Lumbar hyperlordosis, Pectus excavatum... |
OMIM:618371 |
| Vici Syndrome |
|
Recurrent respiratory infections, Lymphopenia, Left ventricular hypertrophy, Dilated cardiomyopat... |
OMIM:242840 |
| Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:2004 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Secundum atrial septal defect, Pectus carinatum, Pancreatic ... |
OMIM:609069 |
| Joubert Syndrome 14 |
|
Intracranial hemorrhage, Ventricular septal defect, Renal cyst |
OMIM:614424 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Scoliosis, Glomerular sclerosis, Acrocyanosis, Abnormal r... |
OMIM:223900 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypospadias, Short neck, Pectus excavatum, Undulate ribs, Horseshoe kidney, Short clavicles, Tota... |
OMIM:609945 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Abnormal lung lobation, Coarctation of aorta, Acute lymphoblastic l... |
ORPHA:1052 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
| Hamamy Syndrome |
|
Down-sloping shoulders, Microcytic anemia, Pectus excavatum, Complete atrioventricular canal defe... |
OMIM:611174 |
| Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Long penis, Nephrocalcinosis, Car... |
ORPHA:769 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Myasthenia Gravis |
|
Hemolytic anemia, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Glycosuria, Acroc... |
ORPHA:589 |
| Short Stature-Micrognathia Syndrome |
|
Micropenis, Ventricular septal defect, Penoscrotal hypospadias |
OMIM:617164 |
| Holoprosencephaly |
|
Hypoplasia of penis, Proteinuria, Ventricular septal defect, Abnormal pulmonary valve morphology,... |
ORPHA:2162 |
| Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Atrial septal defect, Prominent superficial veins, Bicuspid ... |
OMIM:612289 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Thin ribs, ... |
OMIM:300232 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Proteinuria, Atrial septal defect, Micropenis, Pancreatitis |
OMIM:619471 |
| Cystic Echinococcosis |
|
Hepatomegaly, Renal cyst, Membranous nephropathy, Ovarian cyst, Hepatic cysts |
ORPHA:400 |
| Costello Syndrome |
|
Ventricular septal defect, Short neck, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic car... |
ORPHA:3071 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Scolio... |
OMIM:301030 |
| Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Bicuspid aortic valve, Mitral stenosis, Mitral atresia... |
ORPHA:1596 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology |
ORPHA:1292 |
| Antley-Bixler Syndrome |
|
Abnormal renal morphology, Abnormal rib morphology, Narrow chest |
ORPHA:83 |
| Osteogenesis Imperfecta, Type Xvi |
|
Multiple rib fractures, Beaded ribs, Platyspondyly, Narrow chest, Vertebral compression fracture,... |
OMIM:616229 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Barrel-shaped chest, Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Ventricular ... |
OMIM:143095 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
| Lacrimoauriculodentodigital Syndrome |
|
Patent ductus arteriosus, Renal hypoplasia, Scoliosis, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2363 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Kyphosis, Dilated cardiomyopathy, Increased mean corpuscular volume, S... |
ORPHA:261250 |
| Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Ventricular septal defect, Coarctation of aorta, Ectopic kidney |
ORPHA:268249 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect, Scoliosis |
OMIM:614207 |
| Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Ventricular septal defect, Patent ductus arteriosus, Spinal canal stenosis,... |
OMIM:608328 |
| 2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis, Atrial... |
ORPHA:251014 |
| Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Kyphosis, Scoliosis, Atrial septal defect, Micropenis |
ORPHA:398069 |
| Charge Syndrome |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal rib morphology, Hemivertebrae, Horseshoe... |
ORPHA:138 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Pulmonary artery stenosis, Hyp... |
OMIM:100300 |
| Cohen Syndrome |
|
Ventricular septal defect, Pectus excavatum, Kyphosis, Mitral valve prolapse, Scoliosis, Neutropenia |
ORPHA:193 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal cys... |
OMIM:616975 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Short neck, Patent ductus arteriosus, Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Patent fo... |
OMIM:300990 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... |
OMIM:192430 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Platyspondyly, Thin ribs |
OMIM:300863 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... |
ORPHA:438213 |
| Occipital Horn Syndrome |
|
Broad clavicles, Pectus excavatum, Kyphosis, Pectus carinatum, Hydronephrosis, Bladder diverticul... |
OMIM:304150 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Neurogenic bladder, Ventricular septal defect, Short neck, Pectus excavatum, Pu... |
ORPHA:488632 |
| Pseudoaminopterin Syndrome |
|
Pectus excavatum, Asplenia, Sacrococcygeal pilonidal abnormality, Horseshoe kidney, Prominent ste... |
ORPHA:221120 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Pulmonary arteriovenous malform... |
OMIM:610655 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom... |
OMIM:300967 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Prematurely aged appearance, Poor wound healing, Progeroid facial appe... |
OMIM:123700 |
| Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Short neck, Mitral valve prolapse, Ascending tubular aorta aneurysm, S... |
ORPHA:444072 |
| Radio-Tartaglia Syndrome |
|
Ventricular septal defect, Scoliosis |
OMIM:619312 |
| X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Short neck, Fetal pyelectasis, Aortic root aneu... |
ORPHA:96201 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect, Thrombocytopenia, Sacral dimple, Anemia |
ORPHA:261323 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosi... |
OMIM:259770 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Ventricular septal defect, Chordee, Atrial septal defect, Micropen... |
OMIM:309801 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
| Distal Deletion 6P |
|
Atrial septal defect, Vertebral segmentation defect, Scoliosis |
ORPHA:96125 |
| Dysosteosclerosis |
|
Sclerotic scapulae, Increased intervertebral space, Hypoplastic vertebral bodies, Irregular verte... |
OMIM:224300 |
| Lymphatic Malformation 13 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Neonatal death |
OMIM:620244 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Leukocytosis, Micropenis, Hepatic steatosis, Renal hypoplasia |
OMIM:619321 |
| Frontometaphyseal Dysplasia 2 |
|
Neurogenic bladder, Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus, Fused cerv... |
OMIM:617137 |
| Alzahrani-Kuwahara Syndrome |
|
Hypospadias, Pulmonary artery sling, Coronary sinus enlargement, Ventricular septal defect, Persi... |
OMIM:619268 |
| Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
| Kenny-Caffey Syndrome, Type 1 |
|
Thin clavicles, Long clavicles, Anemia, Thin ribs |
OMIM:244460 |
| Goodpasture Syndrome |
|
Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Nodular pattern on p... |
OMIM:233450 |
| Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... |
OMIM:616268 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... |
ORPHA:352665 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis, Short neck |
OMIM:615802 |
| Eosinophilic Fasciitis |
|
Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
| Leigh Syndrome |
|
Ventricular septal defect, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Ren... |
ORPHA:506 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Horseshoe kidney, Abnormal hear... |
ORPHA:444077 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Transient neutropenia, Ventricular septal defect, Renal cyst, Mitral valve pro... |
OMIM:617107 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect |
OMIM:620242 |
| Kabuki Syndrome 1 |
|
Hemolytic anemia, Crossed fused renal ectopia, Abnormal vertebral morphology, Ventricular septal ... |
OMIM:147920 |
| Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Shoulder flexion contracture, Hyperlordosis, Pectus excavatum, Kyp... |
ORPHA:800 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Recurrent urinary tract infections, Renal hypoplasia, Short neck |
OMIM:617157 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Ventricular septal defect, Short neck, Pectus excavatum, Cervical C5/C6 vertebrae ... |
OMIM:613458 |
| Otopalatodigital Syndrome, Type Ii |
|
Atrial septal defect, Hypospadias, Kyphoscoliosis, Short neck, Pectus excavatum, Platyspondyly, S... |
OMIM:304120 |
| Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Situs ... |
ORPHA:564 |
| Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
| 14Q22Q23 Microdeletion Syndrome |
|
Renal hypoplasia |
ORPHA:264200 |
| Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:2050 |
| Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
| Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Cervical C5/C6 vertebrae fusion, Pectus carinatum, H... |
OMIM:101200 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Ventricular septal defect, Hydronephrosis |
OMIM:617798 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect, Block vertebrae, Ectopic... |
OMIM:164210 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Atrial septal defect, Vesicour... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Atrial septal defect, Vesicour... |
ORPHA:353277 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Peripheral ... |
OMIM:259900 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
| Neurofibromatosis-Noonan Syndrome |
|
Pectus excavatum of inferior sternum, Short neck, Pectus excavatum, Secundum atrial septal defect... |
OMIM:601321 |
| Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis, Thin ribs |
OMIM:259420 |
| Oculocerebrocutaneous Syndrome |
|
Abnormal rib morphology, Missing ribs |
ORPHA:1647 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
| Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Abnormality of the kidney, Short neck, Patent ductus arteriosus... |
ORPHA:177907 |
| Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... |
OMIM:164280 |
| Neurocardiofaciodigital Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Double inlet left ventricle, Vesicoureteral reflu... |
OMIM:619869 |
| Trichothiodystrophy |
|
Ventricular septal defect, Prematurely aged appearance, Recurrent bronchopulmonary infections, In... |
ORPHA:33364 |
| Autosomal Dominant Centronuclear Myopathy |
|
Urinary incontinence, Thin ribs |
ORPHA:169189 |
| Choanal Atresia |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:137914 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Recurrent respiratory infections, Thoracic scoliosis, Aplasia of the thymus, Prolonged neonatal j... |
OMIM:620186 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Aortic root aneurysm, Chordee, Hypospadias |
OMIM:618891 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Ventricular sep... |
OMIM:619229 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Cong... |
ORPHA:436252 |
| Yunis-Varon Syndrome |
|
Aplasia/Hypoplasia of the clavicles, Absent sternal ossification, Hypospadias, Ventricular septal... |
ORPHA:3472 |
| Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Pectus excavatum, Kyphosis, Abnormal rib morphology, Scoliosis |
ORPHA:2215 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... |
ORPHA:79404 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Hypospadias, Ventricular septal defect, Urethrovaginal fistula, Portal hypertension... |
OMIM:243800 |
| Opitz Gbbb Syndrome |
|
Hypospadias, Ventricular septal defect, Rectourethral fistula, Congenital posterior urethral valv... |
OMIM:300000 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:99880 |
| Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Patent foramen ovale, Hydronephrosis, Aortopulmonary collater... |
OMIM:617557 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Sacral dimple, Phimosis, Patent ductus arteriosus, Coarctation of aorta, Prolonged neonatal jaund... |
ORPHA:363611 |
| Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,... |
OMIM:236680 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Kyphosis, Platyspondyly, Thin ribs |
OMIM:616294 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Micropenis, Lumbar hyperlordosis, Ventricular septal defect, Short neck |
ORPHA:251028 |
| Diamond-Blackfan Anemia 21 |
|
Cutis marmorata, Secundum atrial septal defect, Erythroid hypoplasia, Anemia, Thrombocytopenia |
OMIM:620072 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
| Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Renal tubular acidosis, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:613457 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy |
OMIM:212065 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Pectus excavatum, Thrombocytopenia, Enlarged tonsils, Proximal renal ... |
ORPHA:2785 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Pectus excavatum, Prominent sternum, Coat hanger sign of ribs, Hydronephrosis, Thoracic hypoplasia |
ORPHA:254528 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Ventricular septal defect |
OMIM:619306 |
| Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Short neck, Scoliosis, Mitral valve prolapse |
OMIM:616202 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect |
OMIM:620183 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Ventricular septal defect,... |
OMIM:619522 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:143 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Thin ribs |
ORPHA:93324 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Kyphoscoliosis, Poor wound healing, Recurrent pneumonia, Thin ribs, Bladder diverticulum, Platysp... |
OMIM:225400 |
| Meier-Gorlin Syndrome 1 |
|
Absent sternal ossification, Lateral clavicle hook, Flat glenoid fossa, Emphysema, Hemivertebrae,... |
OMIM:224690 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale |
ORPHA:542306 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
| Mowat-Wilson Syndrome |
|
Hypospadias, Abnormality of the kidney, Pulmonary artery sling, Ventricular septal defect, Pectus... |
OMIM:235730 |
| Oculodentodigital Dysplasia |
|
Abnormal clavicle morphology, Neurogenic bladder, Ventricular septal defect, Abnormal form of the... |
ORPHA:2710 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Recurrent respiratory infections, Proteinuria, Atelectasis, ... |
ORPHA:534 |
| Xylt1-Cdg |
|
Broad ribs, Short clavicles, Hepatomegaly |
ORPHA:370930 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Sacral dimple, Ventricular septal defect, Hypospadias, Pulmonary artery stenosis, Dilatation of t... |
ORPHA:459070 |
| Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Abnormal preputium morphology, Abnormality of the urethra, Erythema, ... |
ORPHA:2907 |
| Keutel Syndrome |
|
Ventricular septal defect, Recurrent bronchitis, Costal cartilage calcification, Pulmonary artery... |
OMIM:245150 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardiomyo... |
OMIM:610505 |
| 3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Short neck |
ORPHA:251038 |
| Goldberg-Shprintzen Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect, Short neck |
OMIM:609460 |
| Alpha-Mannosidosis, Infantile Form |
|
Recurrent urinary tract infections, Thickened ribs, Pancytopenia, Pneumonia, Short neck, Pectus e... |
ORPHA:309282 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Thin ribs |
ORPHA:163966 |
| Oculodentodigital Dysplasia |
|
Atrial septal defect, Neurogenic bladder, Vertebral hyperostosis |
OMIM:164200 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs |
OMIM:614833 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia |
OMIM:612301 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Fetal pyelectasis, Dilation of Virchow-Robin spaces, Hypoplastic coccygeal ... |
OMIM:619512 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Renal cyst |
OMIM:617260 |
| Faciocardiomelic Syndrome |
|
Common atrium, Cuboid-shaped vertebral bodies, Narrow chest |
OMIM:612731 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Increased intervertebral space, Broad ribs, Platyspondyly, Ventricular septal defect |
OMIM:619727 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Nephropathy |
ORPHA:1454 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Atrial septal defect, Lumbar hyperlordosis, Scoliosis |
ORPHA:522077 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hypospadias, Kyphoscoliosis, Short neck, Renal hypoplasia, Vesicoureteral reflux, Micropenis |
OMIM:309580 |
| Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Thin ribs |
OMIM:615368 |
| Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1051 |
| Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Hypoplastic pulmonary veins, Pectus excavatum, Absent pulmonary artery, N... |
OMIM:610682 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
| Osteogenesis Imperfecta, Type Xviii |
|
Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs |
OMIM:617952 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Atrial sep... |
ORPHA:3047 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:2769 |
| Roberts-Sc Phocomelia Syndrome |
|
Long penis, Hypospadias, Polycystic kidney dysplasia, Horseshoe kidney |
OMIM:268300 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Kyphoscoliosis, Patent ductus arteriosus, Ebstein anomaly of the tricu... |
ORPHA:466791 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Renal tubular acidosis, Ventricular septal defect, Recurrent respiratory infections, Peripheral p... |
OMIM:619575 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Cyanosis, Recurrent upper respiratory tract infections, Enuresis, ... |
ORPHA:293987 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal ribs, Thoracic platysp... |
OMIM:618019 |
| Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst |
OMIM:191100 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junctions, Short r... |
OMIM:250420 |
| Diets-Jongmans Syndrome |
|
Ventricular septal defect, Interrupted inferior vena cava with azygous continuation, Heterotaxy, ... |
OMIM:618846 |
| Joubert Syndrome 1 |
|
Nephropathy, Renal cyst |
OMIM:213300 |
| Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... |
OMIM:613254 |
| Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Hyperlordosis, Pectus excavatum, Recurrent pneumonia, Thin ribs... |
OMIM:234100 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst,... |
OMIM:266920 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent scalp veins, Recurrent respiratory infections, Hyp... |
OMIM:264090 |
| Omodysplasia 1 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Short neck |
OMIM:258315 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Recurrent urinary tract infections, Crossed fused renal ectopia, Hypospadias, Pectus excavatum, P... |
OMIM:619841 |
| Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst |
ORPHA:284 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Renal dysplasia, Sacral dimple, Thoracolumbar scoliosis, Cyst of the ductus choledochus, Patent d... |
ORPHA:480880 |
| Stuve-Wiedemann Syndrome 1 |
|
Ovoid vertebral bodies, Short neck, Pulmonary arterial medial hypertrophy, Thin ribs, Pulmonary h... |
OMIM:601559 |
| Mucolipidosis Iii Alpha/Beta |
|
Broad ribs, Short ribs, Scoliosis |
OMIM:252600 |
| Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
| Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
| Van Den Ende-Gupta Syndrome |
|
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Lateral clavicle hook, Pectus exca... |
OMIM:600920 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Doors Syndrome |
|
11 pairs of ribs, Increased urine alpha-ketoglutarate concentration, Hemivertebrae, Nephrocalcino... |
ORPHA:79500 |
| Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Short neck, Bell-shaped thorax, Coat hanger sign of ribs, Hepatoblastoma, Thoraci... |
ORPHA:254519 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Phimosis, Erythema, Abnormal rib morphology, Neoplasm of the urethra, Cutaneo... |
ORPHA:2908 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Scoliosis, Atrial ... |
OMIM:606170 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect, Scoli... |
OMIM:301044 |
| D-Bifunctional Protein Deficiency |
|
Splenomegaly, Hepatomegaly, Renal cyst |
OMIM:261515 |
| Pitt-Hopkins Syndrome |
|
Micropenis, Acrocyanosis, Scoliosis, Short neck |
ORPHA:2896 |
| Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Prematurely aged appearance, Thin ribs, Cervical ribs, Scoliosis |
OMIM:601812 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Patent ductus arteriosus, Scoliosis |
OMIM:616682 |
| Cornelia De Lange Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insuf... |
ORPHA:199 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Short neck, Ectopic kidney, Micropenis, Patent foramen ovale |
OMIM:263650 |
| Sclerosteosis 1 |
|
Broad ribs, Sclerotic vertebral endplates, Sclerotic scapulae, Broad clavicles |
OMIM:269500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hyperlordosis, Hepatosplenomegaly, Cholecystitis, Broad ribs, Cholelithiasis |
OMIM:301066 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Prominent scalp veins, Hypospadias, Cutis marmorata, Broad clavicles, Hemivertebrae, Chordee, Bro... |
OMIM:151050 |
| Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad ribs, Vertebral arch anomaly |
ORPHA:85184 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal rib morphology, Abnormal lumbar spine morphology, Scoliosi... |
ORPHA:249 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Kyphosis, Thin ribs, Platyspondyly, Scoliosis, Vertebral compression fracture |
OMIM:610915 |
| Joubert Syndrome 21 |
|
Splenomegaly, Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
| Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, Sh... |
OMIM:607778 |
| Monosomy 9P |
|
Hypospadias, Short neck, Abnormal rib morphology, Abnormality of the vertebral column, Scoliosis,... |
ORPHA:261112 |
| Coffin-Siris Syndrome 12 |
|
Elevated hepatic transaminase, Hypospadias, Pectus excavatum, Horseshoe kidney, Scoliosis, Tetral... |
OMIM:619325 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Pleural effusion, Chylothorax, Leukemia |
ORPHA:2526 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Erythema, Ventricular septal defect |
OMIM:614653 |
| Coffin-Lowry Syndrome |
|
Cutis marmorata, Pectus excavatum, Kyphosis, Pectus carinatum, Lumbar kyphosis, Acrocyanosis, Sco... |
OMIM:303600 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Abnormal rib morphology, Scoliosis |
ORPHA:1300 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Elevated hepatic transaminase, Bicuspid aortic valve, Hypospadias, Ventricular septal ... |
OMIM:619475 |
| Craniometadiaphyseal Dysplasia |
|
Broad ribs, Scoliosis |
OMIM:269300 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Micropenis, Spina bifida occulta, Abnormal rib morphology, Short neck |
ORPHA:488434 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Pectus carinatum, Vesicoureteral reflux, W... |
ORPHA:261552 |
| X-Linked Hypophosphatemia |
|
Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovitis, Renal phospha... |
ORPHA:89936 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis |
ORPHA:85167 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Undulate ribs, Platyspondyly, Thoracic hypoplasia |
OMIM:211350 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Aplastic clavicle, Epispadias, Abnormal rib morphology |
ORPHA:2554 |
| Early Infantile Epileptic Encephalopathy |
|
Micropenis, Ventricular septal defect, Renal dysplasia, Ureterocele |
ORPHA:1934 |
| Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Micropenis, Patent foramen ovale |
OMIM:613884 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Recurrent lower respiratory tract infections, Cyanosis |
OMIM:618426 |
| Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Short neck, Epispadias, Patent ductus arteriosus, Aplasia of the epigl... |
ORPHA:434179 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Patent foramen ovale, Chordee, Hypospadias |
ORPHA:477993 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... |
ORPHA:892 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Ureteropelvic junction obstruction, Atrial septal defect, Vesicovaginal fistula |
OMIM:300896 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale |
OMIM:225250 |
| Microphthalmia, Syndromic 6 |
|
Renal hypoplasia |
OMIM:607932 |
| Pyknoachondrogenesis |
|
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Unossified sacrum, Short ribs, Horizont... |
ORPHA:3003 |
| Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
| Pallister-Killian Syndrome |
|
11 pairs of ribs, Sacral dimple, Hypospadias, Ventricular septal defect, Kyphoscoliosis, Short ne... |
OMIM:601803 |
| Eiken Syndrome |
|
Broad ribs |
OMIM:600002 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve, Scoliosis |
OMIM:613355 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis |
ORPHA:2750 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect, Short neck, Recurrent pneumonia, Hydronephrosis, Recurrent bronchitis |
OMIM:620330 |
| Fetal Akinesia Deformation Sequence 1 |
|
Short neck, Thin ribs, Stillbirth, Pulmonary hypoplasia, Thoracic hypoplasia |
OMIM:208150 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Absent sternal ossification, Down-sloping shoulders, Aplastic clavicle, Hyp... |
OMIM:216340 |
| Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Ebstein anomaly of the tricuspid valve, Patent foramen ovale,... |
ORPHA:506358 |
| Trisomy 10P |
|
Multiple renal cysts, Abnormality of the kidney |
ORPHA:171929 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Renal cyst |
ORPHA:495875 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Cystocele, Ascending tubular aorta aneurysm, Scoliosis, Arterial dissection... |
ORPHA:285 |
| Ulnar-Mammary Syndrome |
|
Micropenis, Hypoplastic scapulae, Ventricular septal defect, Short clavicles |
OMIM:181450 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Barrel-shaped chest, Pilonidal sinus, Hypospadias, Broad clavicles, Congenital pseudoarthrosis of... |
OMIM:276820 |
| Neuroocular Syndrome |
|
Pectus excavatum, Sacral dimple, Scapular winging, Patent foramen ovale |
OMIM:619539 |
| C Syndrome |
|
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:1308 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Ventricular septal defect |
ORPHA:513456 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
| Proteus Syndrome |
|
Enlarged polycystic ovaries, Splenomegaly, Long penis, Renal cyst |
ORPHA:744 |
| Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Renal cyst |
OMIM:113620 |
| Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Chord... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Vesicoureteral reflux, ... |
ORPHA:261537 |
| Pmm2-Cdg |
|
Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts, Proteinuria |
ORPHA:79318 |
