| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... |
OMIM:614779 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... |
OMIM:618300 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... |
OMIM:611884 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... |
OMIM:605376 |
| Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
| Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:608644 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:615481 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... |
OMIM:615451 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Double outlet right ventricle,... |
OMIM:618254 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... |
OMIM:614017 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology |
OMIM:215520 |
| Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... |
OMIM:615504 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... |
OMIM:619702 |
| Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs... |
OMIM:616037 |
| Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... |
OMIM:615505 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotranspo... |
OMIM:306955 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... |
ORPHA:244 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... |
OMIM:300991 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... |
OMIM:614679 |
| Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil... |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis |
OMIM:612518 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... |
OMIM:617577 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis... |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... |
OMIM:615500 |
| Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
| Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:616481 |
| Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... |
OMIM:618063 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia, ... |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot... |
OMIM:615444 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspleni... |
OMIM:270100 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... |
OMIM:612444 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... |
OMIM:619657 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Scimitar Syndrome |
|
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the di... |
ORPHA:185 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... |
OMIM:606763 |
| Tricuspid Atresia |
|
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... |
ORPHA:1209 |
| Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Immoti... |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... |
OMIM:608647 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Situs inversus totalis, Recurre... |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:612650 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... |
ORPHA:860 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Decrea... |
OMIM:620197 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Neonatal death... |
OMIM:608978 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Situs inversus ... |
OMIM:613808 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Asplenia, Polysplenia |
OMIM:612776 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... |
OMIM:611556 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
| Holzgreve Syndrome |
|
Renal agenesis, Hypoplastic left heart, Renal hypoplasia |
OMIM:236110 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
| Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell... |
OMIM:618433 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Agenesis of corpus callosum, V... |
ORPHA:171703 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
| Ciliary Dyskinesia, Primary, 6 |
|
Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology |
OMIM:610852 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Situs inversus totalis, Atelectasis, Abs... |
OMIM:244400 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... |
OMIM:615294 |
| Dextrocardia |
|
Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal lung lobation, Abnormal... |
ORPHA:1666 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Transposit... |
OMIM:314390 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
| Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... |
ORPHA:3097 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa... |
OMIM:208540 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... |
OMIM:620203 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Secundum at... |
ORPHA:2257 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Atrioventricula... |
OMIM:619123 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Agang... |
ORPHA:210122 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim... |
OMIM:619608 |
| Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Situs inversus totalis |
OMIM:619881 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis |
OMIM:615872 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... |
OMIM:249270 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Sit... |
OMIM:202650 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... |
OMIM:614300 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Dextrocardia, Camptodactyly of finger, Micrognathia, Patent ductus art... |
ORPHA:2863 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Scimitar anomaly, Mesocardia, Accessory spleen, Coronary sinus enlargement,... |
OMIM:618280 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of F... |
ORPHA:2184 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Short thumb, Patent ductus arteriosus, Ab... |
ORPHA:1120 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Prominent nasal bridge, Ventricular septal defect, Ectopic kidney, Intestinal... |
ORPHA:401935 |
| Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Mic... |
OMIM:616777 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement |
OMIM:115210 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Abnormality of the pancreas, Hydrocephalus, Tetralogy ... |
ORPHA:1926 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
| Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Cor pulmonale, Upper airway obstruction, Cleft palat... |
OMIM:261800 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Ventriculomegal... |
OMIM:617397 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi... |
ORPHA:1908 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Stroke, Total anomalous pulmonary venous r... |
ORPHA:494424 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... |
OMIM:265380 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
| Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,... |
ORPHA:95430 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough |
OMIM:615434 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Microcephaly, Cerebral atrophy, Respiratory insufficiency, Growth delay, Hear... |
OMIM:617899 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Ciliary Dyskinesia, Primary, 43 |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Abdom... |
OMIM:618699 |
| Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Pa... |
OMIM:300963 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebellar hypoplasia, Ce... |
ORPHA:2703 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... |
OMIM:620294 |
| Classic Multiminicore Myopathy |
|
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... |
ORPHA:324604 |
| Ciliary Dyskinesia, Primary, 50 |
|
Coiled sperm flagella, Short sperm flagella, Absent inner dynein arms |
OMIM:620356 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Cleft p... |
OMIM:600987 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Ren... |
OMIM:612946 |
| Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chro... |
OMIM:612649 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... |
OMIM:604213 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... |
OMIM:613095 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... |
OMIM:234810 |
| Pulmonary Hypertension, Primary, 1 |
|
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... |
OMIM:178600 |
| Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Respiratory insuffi... |
ORPHA:1909 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Tachypnea, Submucous cleft hard palate, Double... |
ORPHA:3426 |
| Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Limb ataxia, Gait ataxia |
OMIM:117210 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... |
OMIM:253700 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... |
OMIM:617091 |
| Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Ataxia, Microcephaly, Progressive microcephaly, Ventriculomegaly |
OMIM:613402 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Microcephaly, Respiratory insufficiency due to muscle weakness, Dyspl... |
OMIM:618276 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Situs inversus ... |
ORPHA:990 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk... |
OMIM:242670 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... |
OMIM:618845 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Short stature, Gait ataxia, Progressive microcephaly, Atrop... |
OMIM:617862 |
| Cat Eye Syndrome |
|
Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total anomal... |
OMIM:115470 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
| Mosaic Trisomy 9 |
|
Ventriculomegaly, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Spina... |
ORPHA:99776 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... |
OMIM:267010 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Anomalous pulmonary venous ret... |
ORPHA:392 |
| Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Respiratory insufficiency, Abnormality of... |
ORPHA:171445 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor... |
OMIM:617478 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Camptodactyly of finger, Dextrocardia, Missing ribs, Intestinal malrotation, Respir... |
ORPHA:1759 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Respiratory i... |
OMIM:619909 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Microlissencephaly |
|
Cerebellar atrophy, Pneumonia, Microcephaly, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:1083 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip... |
OMIM:619343 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, He... |
OMIM:612541 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Macrocephaly, Ventriculomegaly |
OMIM:613925 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Neurogenic bladder, Unilateral vertebral artery hypoplasia, Dextroca... |
OMIM:613686 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Total anosmia, Anomalous origin of left coronary artery from the pulmonary arter... |
ORPHA:2326 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent pneumonia, Recurrent upper ... |
OMIM:614868 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
| Colonic Atresia |
|
Abnormal mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
| Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus |
OMIM:619143 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato... |
OMIM:253300 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia |
OMIM:223350 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyo... |
OMIM:616866 |
| Atrial Fibrillation, Familial, 6 |
|
Left ventricular hypertrophy, Left atrial enlargement |
OMIM:612201 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal ... |
OMIM:615993 |
| Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... |
ORPHA:141152 |
| Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Hypoplastic pulmonary veins, Micrognathia, Cleft pa... |
OMIM:618021 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia |
OMIM:616726 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate, Hypoplasti... |
OMIM:220210 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus, Macrocephaly |
OMIM:155350 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Ventricular septal defect, Hypoplasia of the maxilla, Vesicoureteral reflux, Cleft pal... |
OMIM:614261 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Aortopu... |
OMIM:620025 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612562 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Waddling gait, Short stature, Microcephaly, Cerebral atrophy, Hearing impairment |
OMIM:619090 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly, Macrocephaly |
OMIM:611808 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Intestinal malrotati... |
OMIM:600001 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Short stature, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait atax... |
OMIM:616291 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Nephrocalcinosis, Coronary artery atherosclerosis |
OMIM:616833 |
| Chops Syndrome |
|
Anteverted nares, Ventricular septal defect, Tracheomalacia, Splenomegaly, Patent ductus arterios... |
OMIM:616368 |
| Bardet-Biedl Syndrome 17 |
|
Short fourth metatarsal, Dextrocardia, Polyuria, Situs inversus totalis, Anosmia, Stage 5 chronic... |
OMIM:615994 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Cerebellar atrophy, Jaw swelling, Ventriculomegaly, Gait ataxia |
OMIM:619323 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota... |
ORPHA:2255 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... |
ORPHA:1461 |
| Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Cerebellar atrophy, Sensorineural hearing impairment, Brain atrophy, Microcephaly |
OMIM:618741 |
| Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis |
OMIM:617564 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy |
ORPHA:363432 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:179613 |
| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Pulmonary venous occlusion, Interlobular septal thickening |
OMIM:265450 |
| Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Gait ataxia, Hearing impairment |
ORPHA:217012 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Cryptorchidism, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
| Lissencephaly 4 |
|
Short stature, Growth delay, Colpocephaly, Cerebellar hypoplasia, Primary microcephaly, Agenesis ... |
OMIM:614019 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... |
ORPHA:86812 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Dyspnea, Anomalous pulmonary venous return, Airway obstruction, Right ventricular dilatation, Str... |
ORPHA:99105 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis |
OMIM:605388 |
| Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology |
ORPHA:922 |
| Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Depressed nasal bridge, Cartilaginous ossification of nose,... |
OMIM:245150 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Microcephaly, Hydrocephalus, Macrocephaly, Ventriculomegaly |
OMIM:618709 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... |
OMIM:619534 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Masa Syndrome |
|
Short stature, Microcephaly, Hydrocephalus, Shuffling gait, Macrocephaly, Agenesis of corpus call... |
OMIM:303350 |
| Poland Syndrome |
|
Unilateral absence of pectoralis major muscle, Unilateral oligodactyly, Unilateral hypoplasia of ... |
OMIM:173800 |
| White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert... |
ORPHA:206546 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo... |
OMIM:615996 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology |
OMIM:225050 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Camptodactyly of finge... |
ORPHA:2311 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Microcephaly, Chiari type I malformation, Spastic gait |
OMIM:619742 |
| Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Pagod Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary ... |
ORPHA:991 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Microcephaly, Micrognathia, Dyspnea, Respiratory ... |
ORPHA:1832 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
| Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, L... |
OMIM:619951 |
| Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... |
ORPHA:2299 |
| Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Unsteady gait, Scissor gait, Diffuse cerebellar atrophy, Spastic gait |
ORPHA:101010 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:615938 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Intestinal malrotat... |
OMIM:618316 |
| Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Gait disturbance |
ORPHA:98766 |
| 14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, High p... |
ORPHA:261120 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Vascular dilatation, Atelecta... |
OMIM:613177 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
| Desmosterolosis |
|
Depressed nasal bridge, Intestinal malrotation, Micromelia, Abnormality of the nose, Micrognathia... |
ORPHA:35107 |
| Heart And Brain Malformation Syndrome |
|
High, narrow palate, Dandy-Walker malformation, Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
| Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebellar atrophy, Difficulty walking, Spastic gait, Cerebral atrophy |
OMIM:611252 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Ataxia, Microcephaly, Limb ataxia, Gait ataxia, Growth delay |
OMIM:614322 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Wide nose, Left atrial enlargement, Cardiomegaly, Prominent nose, Retrog... |
OMIM:300280 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransferase concentration, Pr... |
OMIM:608779 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Cerebral atrophy, Ventriculomegaly, Microcephaly |
OMIM:618730 |
| Developmental And Epileptic Encephalopathy 76 |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Microcephaly |
OMIM:618468 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
| Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
| Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... |
OMIM:264480 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Elevated circulating aspartate aminotr... |
OMIM:614876 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Apnea, Left ventricular h... |
OMIM:619048 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard pal... |
OMIM:192430 |
| Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... |
ORPHA:1600 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613876 |
| 8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy,... |
ORPHA:251071 |
| Nescav Syndrome |
|
Cerebellar atrophy, Ataxia, Microcephaly, Inability to walk, Cerebral atrophy, Cerebellar vermis ... |
OMIM:614255 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia, Respiratory insufficiency |
ORPHA:2111 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Pulmonary hypoplasia, Abnormal renal corticomedullary ... |
OMIM:616733 |
| Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Chronic sinusitis, Bronchiectasis |
OMIM:253240 |
| 1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot |
ORPHA:250994 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Fixed Subaortic Stenosis |
|
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Patent ductus... |
ORPHA:3092 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Micrognathia |
ORPHA:1538 |
| Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contrac... |
OMIM:619040 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Chronic sinusitis, Otitis media, High-frequency hearing impairment |
OMIM:300455 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Inability to walk, Ventriculomegaly, Microcephaly |
OMIM:617977 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Truncal ataxia, Cerebral atrophy, Microcephaly |
OMIM:611726 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Short stature, Ataxia, Sens... |
OMIM:610185 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia, Macrocephaly |
ORPHA:99966 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Cerebellar atrophy, Short stature, Inability to walk, Growth delay, Progressive microcephaly, Mac... |
ORPHA:438178 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Short stature, Dysmetria, Progressive cerebellar ataxia, Pr... |
ORPHA:284332 |
| Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect, Wheezing... |
ORPHA:1329 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:615937 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Atrial septal defec... |
OMIM:601186 |
| Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
| Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp... |
OMIM:618619 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Recurrent lower respiratory tract infections, High palate |
OMIM:620194 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Otitis media |
OMIM:312863 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atria... |
ORPHA:3304 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Increased pulmonary vascular resis... |
ORPHA:99104 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Monosomy 13Q34 |
|
Common atrium, Hepatic steatosis, Epistaxis, Pulmonic stenosis |
ORPHA:96168 |
| Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Cereb... |
OMIM:610333 |
| Absence Of The Pulmonary Artery |
|
Orthopnea, Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Patent ductus ... |
ORPHA:980 |
| Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se... |
OMIM:615248 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea, Cerebellar atrophy, Short stature, Microcephaly, Cerebral atrophy, Dysmetria, Gait... |
ORPHA:320385 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Hypoplastic left heart, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Respiratory insufficien... |
ORPHA:1166 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Hypertrophic cardiomyopathy, Bifid uvula, Ventriculomegaly |
OMIM:619121 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Unsteady gait, Ataxia |
OMIM:615945 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
| Carpenter Syndrome 1 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Spina bifida occulta, High p... |
OMIM:201000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Inability to walk, Respiratory insufficiency, Athetosis, Secondary microcepha... |
OMIM:618241 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Difficulty walking, Gait ataxia |
ORPHA:423296 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
| Atrial Fibrillation, Familial, 10 |
|
Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement |
OMIM:614022 |
| Congenital Gerbode Defect |
|
Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pulmonary arterial hypert... |
ORPHA:99095 |
| Thoracoabdominal Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Transpo... |
OMIM:313850 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Gastroesophageal reflux, Respiratory distress |
OMIM:616974 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Lateral ventricle dilatation, Ventricular septal defect, Dextrotransposition of the ... |
OMIM:619995 |
| Cardiomyopathy, Dilated, 1U |
|
Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:613694 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo... |
OMIM:617877 |
| Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
| Spinocerebellar Ataxia Type 37 |
|
Sensorineural hearing impairment, Dysdiadochokinesis, Gait disturbance, Falls, Truncal ataxia, Di... |
ORPHA:363710 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Thromboc... |
ORPHA:163979 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:613874 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Cleft soft palate, Ventriculomegaly |
OMIM:620183 |
| Sweeney-Cox Syndrome |
|
Bilateral cryptorchidism, Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, High ... |
OMIM:617746 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Respiratory insufficie... |
OMIM:253800 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Overfolding of the superior helices, Apnea, Posteriorly rotated ears, Micro... |
OMIM:614669 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Apnea, Increased neuronal autofluorescent lipopigment, Ataxia, Microcephaly, ... |
OMIM:610127 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Cough |
ORPHA:163703 |
| Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... |
OMIM:164280 |
| Renpenning Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Hypospadias, Prominent nose, High, narrow palate,... |
ORPHA:3242 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Los... |
OMIM:600143 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebe... |
OMIM:220200 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy... |
OMIM:608751 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Difficulty walking, Cerebellar cortical atrophy |
ORPHA:171622 |
| Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate... |
ORPHA:1200 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Atrial septal defect, Cryptorchidism |
OMIM:618109 |
| Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Patent ductus arteriosus, C... |
OMIM:602398 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Abnormal respiratory system physiology, Hepatosplenomegaly, Biventricular hyper... |
ORPHA:101028 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Renal cyst |
OMIM:174050 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Broad nasal t... |
OMIM:615524 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Fragile X Syndrome |
|
Mandibular prognathia, Sinusitis, Protruding ear, Otitis media, Macrocephaly, Chronic otitis medi... |
ORPHA:908 |
| Renal Coloboma Syndrome |
|
|
