| Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Hypoplastic ... |
OMIM:618845 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... |
OMIM:306955 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Unilateral vertebral artery hypoplasia,... |
OMIM:613686 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Renal agenesis... |
ORPHA:294975 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... |
ORPHA:1209 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Narrow chest, Vertebral segmentation defect, Chronic kidney disease, Hypoplastic left heart, Unil... |
OMIM:617661 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:270100 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Right aortic arch, Dextrotransposition of the great arteries, Pulm... |
OMIM:613751 |
| Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... |
OMIM:615382 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Unilateral renal agenesis, ... |
OMIM:608406 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... |
OMIM:605376 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae, Dextrocardia |
OMIM:173800 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Abnormal form of ... |
ORPHA:1354 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... |
OMIM:616749 |
| Meacham Syndrome |
|
Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Horseshoe kidney, Pulm... |
OMIM:608978 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia, Cervical ribs, Congenital pseudoarthrosis of the clavicle |
ORPHA:66630 |
| Dextrocardia |
|
Congenital malformation of the great arteries, Abnormality of the ureter, Abnormality of the sple... |
ORPHA:1666 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Dextrocardia, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
| Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Diabetic Embryopathy |
|
Vertebral segmentation defect, Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Abnorm... |
ORPHA:1926 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| 16P13.11 Microduplication Syndrome |
|
Pectus excavatum, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular se... |
ORPHA:261243 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Hypospadias, Ventricular septal defect, Renal cyst, Transposition ... |
OMIM:231060 |
| Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia, Hypoplastic left heart |
OMIM:236110 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... |
OMIM:619902 |
| Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... |
ORPHA:3097 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Primary Basilar Invagination |
|
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine |
ORPHA:2285 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Neonatal death, Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus |
OMIM:228940 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Cutis marmorata, Ventricular septal defect, Renal hypoplasia, Hepatic fibrosis, Por... |
OMIM:616589 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
| Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, R... |
OMIM:612946 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Abnormality of the vertebral column, Enlarged ki... |
OMIM:314390 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly |
OMIM:614859 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Hepatopulmonary... |
OMIM:618280 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Truncus arteriosus |
OMIM:601355 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Verheij Syndrome |
|
Abnormal cardiac septum morphology, Renal agenesis, Hemivertebrae, Short neck, Scoliosis, Renal c... |
OMIM:615583 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Hypospadias, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Tra... |
ORPHA:1913 |
| Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Renal tubu... |
OMIM:610205 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial... |
OMIM:263200 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Hypo... |
OMIM:601186 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... |
ORPHA:244 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Urethral steno... |
ORPHA:1727 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
| Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Abnormal tricuspid valve morphology, Hepatomegaly, Missing ribs |
ORPHA:1759 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Anomalous pulmonary venous return, Hypospadi... |
ORPHA:2311 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
| Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Micropenis, Unilateral renal agenesis, Hypoplastic right heart, Crossed fus... |
OMIM:618142 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Recurre... |
OMIM:608681 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Unilateral renal agenesis, Cirrhosis, Hyperecho... |
OMIM:614576 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
| Even-Plus Syndrome |
|
Atrial septal defect, Vertebral clefting, Recurrent urinary tract infections, Short neck, Renal h... |
OMIM:616854 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... |
OMIM:619702 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... |
OMIM:145001 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency |
OMIM:615993 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Midshaft hypospadias, Renal hypoplasia/aplasia, Patent ductus arteriosus |
ORPHA:2863 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Pectus excavatum, Scoliosis |
ORPHA:1937 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Mosaic Trisomy 9 |
|
Atrial septal defect, Hypoplasia of penis, Abnormal liver lobulation, Hemivertebrae, Short neck, ... |
ORPHA:99776 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Atrial septal defect, Multicystic kidney dysplasia, Abnormal aortic valve morphology,... |
ORPHA:261197 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Pectus excavatum, Secundum atrial septal defect, Scoliosis, Pectus carinatum, Cerebral cavernous ... |
OMIM:619910 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Abnormal cardiac septum morphology, Renal agenesis, Scoliosis, Renal hypoplasia, Hydronephrosis, ... |
OMIM:618494 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
| Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Vacterl Association With Hydrocephalus |
|
Abnormality of the vertebral column, Renal hypoplasia, Abnormal vertebral morphology, Stillbirth,... |
OMIM:276950 |
| Emanuel Syndrome |
|
Kyphosis, Aortic valve stenosis, Atrial septal defect, Micropenis, Pulmonic stenosis, Renal agene... |
OMIM:609029 |
| Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... |
OMIM:615482 |
| Emanuel Syndrome |
|
Kyphoscoliosis, Aortic valve stenosis, Atrial septal defect, Micropenis, Pulmonic stenosis, Unila... |
ORPHA:96170 |
| 8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Enlarged thorax, Hypoplastic left heart, Atrioventricular can... |
ORPHA:251071 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pectus excavatum, Prominent sternum, Spondylolisthesis, Pulmonic stenosis, 11 pairs of ribs, Spin... |
OMIM:617877 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vertebral segmentation defect, Pectus excavatum, Atrial septal defect, ... |
ORPHA:2970 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... |
OMIM:615067 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Cyanosi... |
ORPHA:1461 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... |
OMIM:618719 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... |
OMIM:600001 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... |
ORPHA:1797 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inve... |
OMIM:613095 |
| Burn-Mckeown Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Atrial septal defect |
OMIM:608572 |
| Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:211890 |
| Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Scoliosis, Hypoplasia of the odontoid proces... |
OMIM:609813 |
| Braddock Syndrome |
|
Pectus excavatum, Unilateral renal agenesis, Hemivertebrae, Short neck, Scoliosis, Missing ribs, ... |
ORPHA:52047 |
| Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Renal hypoplasia, Hypoplasia of penis, Abnormality of mesentery morpho... |
ORPHA:2256 |
| Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Hypoxemia, Cyanosis, Ureteral stenosis, Dextrocardia, Pulmonary hy... |
ORPHA:2257 |
| Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Narrow chest, Nephronophthisis, Short ribs, Abnormality of the kidney, ... |
ORPHA:1505 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
| Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Vertebral segmentation defect, Renal hypoplasia/aplasia, Scoliosis,... |
ORPHA:1988 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Recurrent upper respiratory tract infections, Desquamative interstitial pneumoniti... |
OMIM:263000 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... |
OMIM:265380 |
| Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Short neck, Abnormal renal morphology, Ventricular septal defect, Fused cer... |
OMIM:609053 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Micropenis, Renal agenesis, Hemivertebrae, 11 pairs of r... |
OMIM:264480 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Bronchiectasis |
OMIM:611884 |
| Oligomeganephronia |
|
Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration rate, Pulmo... |
ORPHA:2260 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Spondylosis, Cervical |
|
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta |
OMIM:184300 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Unilateral renal agenesis, Micropenis, ... |
ORPHA:363444 |
| Catel-Manzke Syndrome |
|
Pectus excavatum, Short neck, Coarctation of aorta, Pectus carinatum, Ventricular septal defect, ... |
OMIM:616145 |
| Poland Syndrome |
|
Hemivertebrae, Short neck, Pectus carinatum, Sprengel anomaly, Vertebral segmentation defect, Sho... |
ORPHA:2911 |
| Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Unilateral renal agenesis, Splenogonada... |
OMIM:156810 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Muscular ventricular septal defect, Unil... |
OMIM:619227 |
| Short-Rib Thoracic Dysplasia 12 |
|
Narrow chest, Hepatomegaly, Periportal fibrosis, Splenomegaly, Short ribs, Short neck, Cystic ren... |
OMIM:269860 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... |
OMIM:615415 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... |
ORPHA:1686 |
| Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... |
OMIM:603860 |
| Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Renal hypoplasia/aplasia, Abnormal vertebral s... |
ORPHA:2345 |
| Carpenter Syndrome 1 |
|
Atrial septal defect, Pulmonic stenosis, Hydroureter, Short neck, Scoliosis, Tetralogy of Fallot,... |
OMIM:201000 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Scoliosis, Renal cortical hyperechogenicity, Beta... |
OMIM:611555 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Renal agenesis, Unilateral renal agenesis, Abnormality of the vertebral column,... |
OMIM:601076 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... |
OMIM:208540 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Atrial septal defect, Pulmonic st... |
ORPHA:2255 |
| Marden-Walker Syndrome |
|
Kyphosis, Abnormal sternum morphology, Micropenis, Hypospadias, Short neck, Scoliosis, Dextrocard... |
OMIM:248700 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
| Thymic Aplasia With Fetal Death |
|
Renal agenesis, Ureteral agenesis, Pulmonary hypoplasia, Stillbirth, Truncus arteriosus |
OMIM:274210 |
| Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Ventricular septal defect, Horsesh... |
OMIM:613680 |
| Alagille Syndrome 1 |
|
Exocrine pancreatic insufficiency, Stroke, Hepatic failure, Hemivertebrae, Reduced number of intr... |
OMIM:118450 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Tetralogy of Fallot |
ORPHA:3306 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Pectus excavatum, Atrial septal defect, Scoliosis |
ORPHA:1388 |
| Orofaciodigital Syndrome Xvii |
|
Short neck, Renal hypoplasia, Tetralogy of Fallot, Micropenis |
OMIM:617926 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch, Bronchiectasis |
OMIM:617577 |
| Floating-Harbor Syndrome |
|
Short clavicles, Kyphoscoliosis, Atrial septal defect, Renal agenesis, Hypospadias, Short neck, 1... |
ORPHA:2044 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
| Transaldolase Deficiency |
|
Telangiectasia, Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Abnormality of the kidney, C... |
ORPHA:101028 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Abnormality of the ... |
OMIM:118100 |
| Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect, Recurrent respiratory infections |
OMIM:253300 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia, Bronchiectasis |
OMIM:618063 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Sprengel anomaly, Hypertrophy of the urinary bladder, Autoimmune thrombocytopenia, Renal dysplasi... |
OMIM:601389 |
| Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory i... |
OMIM:616037 |
| Ellis Van Creveld Syndrome |
|
Narrow chest, Renal hypoplasia/aplasia, Atrial septal defect, Atrioventricular canal defect, Abno... |
ORPHA:289 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... |
ORPHA:1909 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Renal cyst, Rena... |
OMIM:614922 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatomegaly, Lateral clavicle hook, Nephronophthisis, Splenomegaly, Hepa... |
OMIM:615630 |
| Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Pectus excavatum, Short neck, Macrocytic anemia, Ventricular ... |
OMIM:614294 |
| Holt-Oram Syndrome |
|
Sprengel anomaly, Kyphosis, Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic ... |
ORPHA:392 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Abnormal cardiac septum morphology, Short clavicles, Short ribs, Unilateral renal agenesis, Singl... |
OMIM:308050 |
| Marden-Walker Syndrome |
|
Pectus excavatum, Abnormality of the upper urinary tract, Pectus carinatum, Ventricular septal de... |
ORPHA:2461 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Short neck, Patent foramen ovale |
OMIM:616789 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... |
OMIM:122600 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Short neck, Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Pul... |
OMIM:236500 |
| Polycystic Kidney, Cataract, And Congenital Blindness |
|
Polycystic kidney dysplasia |
OMIM:263100 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Renal hypoplasia, Atrial septal defect |
ORPHA:75389 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Butterfly vertebrae, Atrial septal defect, Hypoplastic left heart, Aortic valve ... |
OMIM:617660 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Increased vertebral height, Pectus excavatum, Kyphoscoliosis, Down-sloping shoulders, Hyperlordos... |
OMIM:616817 |
| Pallister-Hall Syndrome |
|
Rib fusion, Distal urethral duplication, Micropenis, Hemivertebrae, Hydroureter, Neonatal death, ... |
OMIM:146510 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3316 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Atrial septal defect, Hepatomegaly, ... |
ORPHA:84064 |
| Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Nephronophthisis, Nephro... |
ORPHA:474 |
| Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Ectopia cordis, Pulmonary hypoplasia, Transposition of the great art... |
OMIM:313850 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis |
OMIM:614679 |
| Coach Syndrome 1 |
|
Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Nephronophthisis, Cirrhosis, Unila... |
OMIM:216360 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Hepatom... |
OMIM:614876 |
| Distal Trisomy 6P |
|
Abnormality of the urinary system, Short neck, Abnormal lung lobation, Long thorax, Renal hypopla... |
ORPHA:1745 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Hypospadias, Abnormal clavicle morphology, Tetralogy of Fallot |
ORPHA:276422 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micropenis, Renal agenesis, Hypospadias, Pectus carinatum, Renal hypoplasia, Patent ductus arteri... |
ORPHA:171839 |
| White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
| Pentalogy Of Cantrell |
|
Abnormal sternum morphology, Atrial septal defect, Abnormal pericardium morphology, Renal agenesi... |
ORPHA:1335 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... |
OMIM:220210 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Pectus excavatum, Micropenis, Abnormality of the urinary system, Short neck, Scoliosis, Tetralogy... |
ORPHA:96092 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Secundum atrial septal defect, Micropenis, Unilateral renal agenesis, Scoliosis, Leukem... |
OMIM:619951 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vertebral segmentation defect, Renal hypoplasia/aplasia, Multiple renal cysts, Tetralogy of Fallo... |
ORPHA:1166 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Abnormality of the kidney, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Bruising susceptibility, Unilateral renal agenesis, Quadricuspid aortic valve, Mitral valve prola... |
OMIM:606408 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck, Tetralogy of Fallot, Ventricular sept... |
ORPHA:1780 |
| Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Leukopenia, Renal hypoplasia, Patent ductus arteriosus, Sacral dimple, Pneu... |
OMIM:603467 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect |
OMIM:615297 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... |
ORPHA:411709 |
| Becker Nevus Syndrome |
|
Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Pectus carinatum, Spina bifida occulta, Supern... |
ORPHA:64755 |
| Takenouchi-Kosaki Syndrome |
|
Abnormal cardiac septum morphology, Abnormal sternum morphology, Pulmonic stenosis, Unilateral re... |
OMIM:616737 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst, Hepatomegaly |
OMIM:614870 |
| Floating-Harbor Syndrome |
|
Short clavicles, Kyphoscoliosis, Atrial septal defect, Hypospadias, Glandular hypospadias, 11 pai... |
OMIM:136140 |
| Bardet-Biedl Syndrome 17 |
|
Micropenis, Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney di... |
OMIM:615994 |
| Ciliary Dyskinesia, Primary, 22 |
|
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Re... |
OMIM:615444 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Scoliosis, Pectus carinatum |
ORPHA:3268 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Sacral dimple, Atrial septal defect, Scoliosis |
OMIM:608227 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Narrow chest, Atrial septal defect, Hepatomegaly, Short ribs, Short neck, Bell-shaped thorax, Pat... |
ORPHA:1842 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Cyanosis, Tetralogy of Fallot, Ventricular septal defect... |
OMIM:617478 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy |
ORPHA:3033 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis |
OMIM:606763 |
| Czeizel-Losonci Syndrome |
|
Congenital megaureter, Abnormality of the urinary system, Ureteral agenesis, Spina bifida occulta... |
ORPHA:2437 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal cardiac septum morphology, Rib fusion, Kyphosis, Atrial septal defect, Abnormality of th... |
ORPHA:280 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Cyanosis, C... |
ORPHA:3426 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Abdominal situs inversus |
OMIM:619607 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Abnormality of the spleen, Abnormal form of the vertebral bod... |
ORPHA:93941 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Urethral atresia, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Shor... |
OMIM:271520 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Cyanosis, Pleural effusion |
ORPHA:2414 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Unilateral renal agenesis, Methylmalonic aciduria, Intraventricular hemorrh... |
ORPHA:79284 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Exocrine pancreatic insufficiency, Pectus excavatum, Atrioventricular canal defect, Short neck, V... |
ORPHA:508498 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial s... |
ORPHA:1120 |
| Lessel-Kubisch Syndrome |
|
Premature graying of hair, Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sprengel anomaly, Rib fusion, Narrow chest, Pectus excavatum, Atrial septal defect, Bifid ribs, B... |
OMIM:213980 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Atrial septal defect, Lymphopenia |
OMIM:614868 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries, Sacral dimple, Scoliosis |
OMIM:619995 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Hypospadias, Hypoplastic scapulae, Renal cyst, Polycystic kidney dyspla... |
OMIM:614091 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Hypospadias, Scoliosis, Tetralogy of Fallot,... |
OMIM:618316 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Asbestos Intoxication |
|
Myocardial fibrosis, Interlobular septal thickening, Lung adenocarcinoma, Oxygen desaturation on ... |
ORPHA:2302 |
| Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Absence of renal corticomedullary differentiation, Hepatic failure... |
OMIM:619758 |
| Microphthalmia, Syndromic 3 |
|
Rib fusion, Butterfly vertebrae, Micropenis, Hypospadias, Hemivertebrae, Ventricular septal defec... |
OMIM:206900 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Total anomalous pulmonary venous return, Recurrent respiratory infections |
OMIM:106700 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal hypoplasia/aplasia, Renal agenesis, Short neck, Abnormal lung lobation, Ventricular septal ... |
ORPHA:2516 |
| Duane-Radial Ray Syndrome |
|
Atrial septal defect, Renal agenesis, Crossed fused renal ectopia, Shoulder dislocation, Scoliosi... |
OMIM:607323 |
| Autosomal Recessive Robinow Syndrome |
|
Abnormal pulmonary valve morphology, Rib fusion, Vertebral segmentation defect, Pectus excavatum,... |
ORPHA:1507 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Intrahepatic bile du... |
OMIM:614377 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral chest hypoplasia, Unilateral renal agenesis, Multicystic kidney dysplasia, Abnormality... |
OMIM:308205 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Pectus excavatum, Atrial septal defect, Abnormal sternum ... |
ORPHA:2847 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Pectus excavatum, Atrial septal defect, Pulmonic stenosis, Scolios... |
OMIM:179613 |
| Alagille Syndrome |
|
Vertebral segmentation defect, Telangiectasia of the skin, Peripheral pulmonary artery stenosis, ... |
ORPHA:52 |
| Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Cutis marmorata, Patent ductus arteriosus, Hydronephrosis |
OMIM:609757 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Hypopla... |
ORPHA:2990 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Hypertrophic cardiomyopathy, Hepatomegaly, Renal hypoplasia |
OMIM:619053 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Abnormal cardiac septum morphology, Scoliosis, Coarctation of aorta, Renal cyst, Renal hypoplasia... |
OMIM:618454 |
| Congenital Rubella Syndrome |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Patent ductus arteri... |
ORPHA:290 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Heparan... |
OMIM:252920 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... |
OMIM:617641 |
| Senior-Boichis Syndrome |
|
Reduced number of intrahepatic bile ducts, Malformation of the hepatic ductal plate, Cholestasis,... |
ORPHA:84081 |
| Johanson-Blizzard Syndrome |
|
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Hypoplasia of penis, Hypos... |
ORPHA:2315 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Ectopic kidney, Truncu... |
ORPHA:401935 |
| Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... |
OMIM:267010 |
| Transaldolase Deficiency |
|
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal def... |
OMIM:606003 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Sprengel anomaly, Micropenis, Atrioventricular canal defect, Coarctation of aorta, Dextrocardia |
OMIM:618929 |
| Zttk Syndrome |
|
Rib fusion, Kyphosis, Atrial septal defect, Unilateral renal agenesis, Hemivertebrae, Polyuria, S... |
OMIM:617140 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart, Abnormal rib morphology |
ORPHA:2772 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Narrow chest, Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Thoracic dysp... |
OMIM:614376 |
| Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis |
OMIM:256690 |
| Mental Retardation, Buenos Aires Type |
|
Pectus excavatum, Atrial septal defect, Intrahepatic biliary atresia, Hypospadias, Abnormality of... |
OMIM:249630 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Exocrine pancreatic insufficiency, Atrial septal defect, Lymphopenia, Severe B lymphocytopenia, A... |
OMIM:620005 |
| Bresek Syndrome |
|
Hemivertebrae, Hypoplasia of the bladder, Neonatal death, Scoliosis, Renal dysplasia, Renal hypop... |
ORPHA:85284 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia |
ORPHA:306550 |
| 3Q29 Microdeletion Syndrome |
|
Pectus excavatum, Hypospadias, Pectus carinatum, Six lumbar vertebrae, Subvalvular aortic stenosi... |
ORPHA:65286 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Unilateral renal agenesis, Neonatal death, Ventricular septal defect, Paten... |
OMIM:620024 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:249670 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Hepatomegaly |
OMIM:608776 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Hepatomegaly... |
OMIM:230500 |
| Thanatophoric Dysplasia |
|
Narrow chest, Kyphosis, Atrial septal defect, Abnormality of the kidney, Platyspondyly, Pulmonary... |
ORPHA:2655 |
| Noonan Syndrome 12 |
|
Spinal canal stenosis, Pectus excavatum, Lymphopenia, 11 pairs of ribs, Tetralogy of Fallot, Vent... |
OMIM:618624 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Atrial septal defect, Aminoaciduria, Stroke, Ventricular septal defect, Sit... |
OMIM:249270 |
| Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Atrial septal defect, Hepatomegaly, Thin ribs, Splenomegaly, Pulmonic stenosis, L... |
OMIM:608149 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
| Vater/Vacterl Association |
|
Abnormal sternum morphology, Renal agenesis, Hypospadias, Scoliosis, Tetralogy of Fallot, Renal d... |
OMIM:192350 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
| Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Dysplastic sacrum, Micropenis, Pulmonic stenosis, Abnormal renal co... |
OMIM:134780 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Unilateral renal agenesis, Pectus excavatum, Scoliosis |
OMIM:616362 |
| Pseudo-Torch Syndrome 2 |
|
Petechiae, Secundum atrial septal defect, Hepatomegaly, Thin ribs, Cerebral hemorrhage, Abnormal ... |
OMIM:617397 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Pectus excavatum, Hepatomegaly, Short neck, Pectus carinatum, Enlarged kidney, Proteinuria, Bone ... |
OMIM:617303 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Cockayne Syndrome Type 3 |
|
Kyphosis, Hepatomegaly, Stroke, Premature coronary artery atherosclerosis, Splenomegaly, Unilater... |
ORPHA:90324 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic va... |
ORPHA:210122 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Thanatophoric Dysplasia Type 2 |
|
Narrow chest, Kyphosis, Atrial septal defect, Abnormality of the kidney, Platyspondyly, Patent du... |
ORPHA:93274 |
| Robinow Syndrome |
|
Tricuspid atresia, Pulmonary valve atresia, Rib fusion, Kyphoscoliosis, Atrial septal defect, Mic... |
ORPHA:97360 |
| Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
| 7Q11.23 Microduplication Syndrome |
|
Pectus excavatum, Aortic valve stenosis, Atrial septal defect, Unilateral renal agenesis, Hypospa... |
ORPHA:96121 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus, Scoliosis |
OMIM:619717 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Hepatic cysts, Ventricular septal defect, Renal cyst, Stillbirth |
OMIM:263630 |
| Diamond-Blackfan Anemia 1 |
|
Narrow chest, Atrial septal defect, Hypoplastic coccygeal vertebrae, Congenital hypoplastic anemi... |
OMIM:105650 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Renal cortical cysts, Hepatomegaly, Glycosuria, Generalized aminoaciduria, Polycystic kidney dysp... |
OMIM:231680 |
| Ververi-Brady Syndrome |
|
Scoliosis, Transposition of the great arteries |
OMIM:617982 |
| Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Cholesta... |
OMIM:614300 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
| Acrofacial Dysostosis 1, Nager Type |
|
Urticaria, Unilateral renal agenesis, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, ... |
OMIM:154400 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Abnormal sternum morphology, Unilateral renal agenesis, Hypospadias, Scoliosis, Abnormality of th... |
ORPHA:487796 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| 1P36 Deletion Syndrome |
|
Abnormal cardiac septum morphology, 11 pairs of ribs, Spinal canal stenosis, Rib fusion, Hypoplas... |
ORPHA:1606 |
| Mungan Syndrome |
|
Pulmonic stenosis, Renal hypoplasia, Vesicoureteral reflux, Perimembranous ventricular septal defect |
OMIM:611376 |
| Leopard Syndrome 1 |
|
Kyphoscoliosis, Pectus excavatum, Micropenis, Pulmonic stenosis, Unilateral renal agenesis, Hypos... |
OMIM:151100 |
| Shashi-Pena Syndrome |
|
Kyphosis, Atrial septal defect, Scoliosis |
OMIM:617190 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Kyphosis, Pectus excavatum, Aortic valve stenosis, Micropenis, Unilateral renal agenesis, Hypospa... |
ORPHA:464311 |
| Khan-Khan-Katsanis Syndrome |
|
Scoliosis, Renal hypoplasia, Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis, Vesi... |
OMIM:618460 |
| Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Heparan... |
OMIM:252900 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Lambert Syndrome |
|
Intrahepatic biliary atresia, Hypospadias, Cholestasis, Ventricular septal defect, Jaundice |
ORPHA:1296 |
| Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Vesicoureteral reflux |
ORPHA:2512 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Anemia, Atrial septal defect |
OMIM:617408 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Ventricular septal defect,... |
ORPHA:93267 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Atrial septal defect, Micropenis, Long clavicles, Short neck, 11 pairs of ribs, Platyspondyly, Te... |
OMIM:210710 |
| Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis, Scoliosis |
OMIM:619504 |
| Trisomy 13 |
|
Narrow chest, Kyphosis, Atrial septal defect, Abnormality of the ureter, Scoliosis, Multiple rena... |
ORPHA:3378 |
| Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Hypox... |
ORPHA:79126 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Ventricular septal defe... |
OMIM:214300 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Pectus excavatum, Hepatomegaly, Hepatoblastoma, Short sternum, Pectus carinatum, Enlarged kidney,... |
OMIM:312870 |
| Noonan Syndrome 8 |
|
Abnormal sternum morphology, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertroph... |
OMIM:615355 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Cyanosis, Tetralogy of Fa... |
ORPHA:3304 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Methylmalonic aciduria, Homocystinuria, Coarctation of aorta, Bell-shaped t... |
OMIM:614857 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Atrial septal defect, Short ribs, Micropenis, Ventricular septal def... |
ORPHA:2519 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Atrial septal defect, Cholestatic liver disease, Renal tubular acidosis, Ri... |
OMIM:208085 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Aortic valve stenosis, Hypoplas... |
ORPHA:7 |
| Noonan Syndrome 11 |
|
Pectus excavatum, Atrial septal defect, Pulmonic stenosis, Palmoplantar cutis laxa, Hypertrophic ... |
OMIM:618499 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventricular septal defect, Ureteropelv... |
OMIM:280000 |
| Vacterl/Vater Association |
|
Vertebral segmentation defect, Abnormal cardiac septum morphology, Hypoplasia of penis, Renal age... |
ORPHA:887 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Pulmonic stenosis, Renal hypoplasia, Patent foramen ovale |
OMIM:618914 |
| Distal Trisomy 5Q |
|
Ventricular septal defect, Dextrocardia, Aplasia/Hypoplasia of the gallbladder, Hypospadias |
ORPHA:96097 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Pectus excavatum, Micropenis |
OMIM:244200 |
| Restrictive Dermopathy |
|
Atrial septal defect, Thin ribs, Aplasia/Hypoplasia of the clavicles, Hypospadias, Thin clavicles... |
ORPHA:1662 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Pectus excavatum, Atrial septal defect |
OMIM:613458 |
| Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Atrioventricular canal defect, Elevated circulating aspartate aminotransferase conc... |
OMIM:619534 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Kyphosis, Pectus excavatum, Aortic valve stenosis, Micropenis, Unilateral renal agenesis, Hypospa... |
ORPHA:464306 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617973 |
| Cyanosis And Hepatic Disease |
|
Hepatitis, Cyanosis |
OMIM:219400 |
| Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality o... |
ORPHA:1834 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect, Scoliosis |
ORPHA:357225 |
| Mucopolysaccharidosis, Type Iva |
|
Chondroitin sulfate excretion in urine, Kyphosis, Prominent sternum, Hepatomegaly, Lumbar kyphosi... |
OMIM:253000 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot |
ORPHA:251076 |
| Mucopolysaccharidosis Type 6 |
|
Kyphosis, Splenomegaly, Recurrent upper respiratory tract infections, Short neck, Broad ribs, Muc... |
ORPHA:583 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
| Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Patent ductus arteriosus, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale |
OMIM:601450 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Micropenis, Ventricular septal defect, Patent ductus arteriosus, Patent for... |
OMIM:619189 |
| Meier-Gorlin Syndrome 8 |
|
Renal hypoplasia |
OMIM:617564 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy |
OMIM:617056 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, Butterfly vertebrae, Hypospadias, Left ventricular hypertrophy, Sh... |
OMIM:611209 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Micropenis, Unilateral renal agenesis, Dilated cardiomyopathy, Renal hypoplasia, Ect... |
OMIM:616541 |
| Cardiofaciocutaneous Syndrome 3 |
|
Pectus excavatum, Atrial septal defect, Pulmonic stenosis, Short neck, Scoliosis, Ventricular sep... |
OMIM:615279 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Renal hypoplasi... |
ORPHA:2470 |
| White Forelock With Malformations |
|
Sprengel anomaly, Atrial septal defect, Spina bifida occulta, Abnormal rib morphology |
ORPHA:2475 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pulmonary hypoplasia, Sacral dimple, Severe photosensiti... |
OMIM:270400 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Acute leukemia, Renal insufficiency |
ORPHA:281090 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Bell-shaped thorax, Renal cyst, Renal hypoplasia, Horizontal ribs, Pulm... |
OMIM:616300 |
| Chime Syndrome |
|
Pulmonary valve atresia, Abnormality of the kidney, Erythema, Tetralogy of Fallot, Ventricular se... |
ORPHA:3474 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myocardial fibrosis, Atrial septal defect, Spinal rigidity, Pulmonic stenosis, Scoliosis, Dilated... |
OMIM:253800 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Cyanosis, Abnormal cor... |
ORPHA:980 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Hepatomegaly, Splenomegaly, Recurren... |
OMIM:252930 |
| Melnick-Needles Syndrome |
|
Narrow chest, Abnormal cardiac septum morphology, Short clavicles, Scoliosis, Abnormal rib morpho... |
ORPHA:2484 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
| Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect, Hepatomegaly |
OMIM:619881 |
| Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Abnormal renal collecting system morphology, Renal dysplasia, Renal st... |
OMIM:113650 |
| Distal Tetrasomy 15Q |
|
Kyphosis, Abnormal sternum morphology, Atrial septal defect, Abnormality of the kidney, Nephrobla... |
ORPHA:314588 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bladder diverticulum, Bicuspid aortic valve, Pectus excavatum, Kyphoscoliosis, Subdural hemorrhag... |
ORPHA:536545 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... |
OMIM:606966 |
| Digeorge Syndrome |
|
Cholelithiasis, Thrombocytopenia, Ventricular septal defect, Abnormality of the thymus, Splenomeg... |
OMIM:188400 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Neuralgic Amyotrophy |
|
Sprengel anomaly, Scapular winging, Acrocyanosis |
ORPHA:2901 |
| Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Hepatomegaly, Peripheral arteriovenous fistula, Hematuria, Microcytic anemi... |
ORPHA:90308 |
| Noonan Syndrome 4 |
|
Pectus excavatum, Atrial septal defect, Abnormal sternum morphology, Bruising susceptibility, Hyp... |
OMIM:610733 |
| Joubert Syndrome 18 |
|
Ventricular septal defect, Kyphoscoliosis, Horseshoe kidney |
OMIM:614815 |
| Cornelia De Lange Syndrome 1 |
|
Short sternum, Reduced renal corticomedullary differentiation, Hypospadias, Cutis marmorata, Shor... |
OMIM:122470 |
| Myopathy, Congenital, Nonprogressive |
|
