Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Dextrocardia, Meningocele, Duodenal stenosis, Abnormal tricuspid valve mo... |
ORPHA:1759 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... |
OMIM:615482 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposi... |
OMIM:314390 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:617577 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Short stature, High palate, Dextrocardia, Anal atresia |
ORPHA:2863 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:618063 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:606763 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef... |
ORPHA:2257 |
Dextrocardia |
|
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormal lung ... |
ORPHA:1666 |
Johanson-Blizzard Syndrome |
|
Short stature, Dextrocardia, Edema, Malabsorption, Anteriorly placed anus, Abnormal cardiac septu... |
ORPHA:2315 |
Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Polyhydra... |
ORPHA:99776 |
Marden-Walker Syndrome |
|
Dextrocardia, Postnatal growth retardation, High, narrow palate, Pyloric stenosis, Cleft palate, ... |
OMIM:248700 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Intestinal malrotation, Short stature, Partial anomalous... |
OMIM:619657 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... |
OMIM:306955 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Short stature, Dextrocardia, Situs inversus totalis, Myelomeningocele, Ectopic anu... |
OMIM:613686 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Scimitar Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnorm... |
ORPHA:185 |
Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intesti... |
OMIM:270100 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Tracheoesophageal fistula, High palate, Pulmonary h... |
ORPHA:2437 |
Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Left Isomerism, Pulmonary arte... |
OMIM:619702 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... |
OMIM:608978 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Gastroesophageal reflux,... |
ORPHA:261197 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Inte... |
OMIM:618280 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, A... |
OMIM:264480 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia |
OMIM:613095 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Short stature, Cleft palate, Growth delay, Coronary arte... |
OMIM:614294 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Dextrocardia, Cleft palate |
ORPHA:220493 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Short stature, Dextrocardia, Tracheoesophageal fistula, High palate, Atrial septal defect, Glossitis |
OMIM:277380 |
Marden-Walker Syndrome |
|
Severe short stature, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric st... |
ORPHA:2461 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, High palate, Dextrocardia |
OMIM:618929 |
Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Heterotaxy |
OMIM:613807 |
Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... |
OMIM:265300 |
Renpenning Syndrome |
|
Heterotaxy |
ORPHA:3242 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lym... |
OMIM:616843 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Short stature |
ORPHA:96097 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Stillbirth, Aortic valve sten... |
OMIM:615415 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly... |
ORPHA:329971 |
8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Tetralogy of Fallot, Dextrocardia, Abnormal heart morphology |
ORPHA:96092 |
Knobloch Syndrome |
|
Occipital encephalocele, Pyloric stenosis, Dextrocardia |
ORPHA:1571 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Cleft pa... |
OMIM:616145 |
Restrictive Dermopathy |
|
Dextrocardia, Polyhydramnios, Large placenta, Submucous cleft hard palate, Transposition of the g... |
ORPHA:1662 |
Thoracoabdominal Syndrome |
|
Anencephaly, Cleft palate, Pulmonary hypoplasia, Transposition of the great arteries, Ectopia cordis |
OMIM:313850 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
Neurooculorenal Syndrome |
|
Dextrocardia, Intestinal malrotation, Postnatal growth retardation, Mitral valve prolapse, Anteri... |
OMIM:620305 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Hematochezia, Gas... |
ORPHA:263665 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia... |
ORPHA:99125 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Left Isomerism |
OMIM:618300 |
Tetrasomy 9P |
|
Pericarditis, Dextrocardia, Cleft palate, Abnormal cardiac septum morphology, High palate, Pulmon... |
ORPHA:3310 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Short stature, High palate, Umbilical hernia |
ORPHA:536545 |
Constricting Bands, Congenital |
|
Encephalocele, Ectopia cordis, Abnormal lung lobation, Cleft palate |
OMIM:217100 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Short stature, Submucous cleft hard palate, Double outle... |
OMIM:300166 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, High, narrow palate, Narrow palate, High palate, Transposit... |
OMIM:614976 |
Isolated Cleft Lip |
|
Situs inversus totalis, Umbilical hernia, Velopharyngeal insufficiency, Polyhydramnios |
ORPHA:199302 |
Double Outlet Right Ventricle |
|
Heterotaxy |
ORPHA:3426 |
Partial Atrioventricular Septal Defect |
|
Heterotaxy |
ORPHA:1330 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Cleft pala... |
ORPHA:2369 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... |
OMIM:212093 |
Poland Syndrome |
|
Encephalocele, Atrial septal defect, Spina bifida occulta, Dextrocardia |
ORPHA:2911 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormal lung lobation, Anomalous pulmonary ve... |
ORPHA:3097 |
Floating-Harbor Syndrome |
|
Short stature, Celiac disease, Atrial septal defect, Umbilical hernia, Mesocardia |
OMIM:136140 |
Diets-Jongmans Syndrome |
|
Heterotaxy |
OMIM:618846 |
Floating-Harbor Syndrome |
|
Short stature, Celiac disease, Tetralogy of Fallot, Growth delay, Gastroesophageal reflux, Atrial... |
ORPHA:2044 |