Adie Pupil |
|
Tonic pupil |
OMIM:103100 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... |
ORPHA:185 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Cleft palate, Short distal phalanx of finger |
OMIM:601355 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Cleft palate |
OMIM:611867 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Ventricular septal defect, Intestinal malrotation, Short... |
ORPHA:401935 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Abnormal heart morphology, Atypical scarring of ... |
ORPHA:294975 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... |
OMIM:231060 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Lymphedema, P... |
OMIM:601927 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft palate, Abnormal aortic morphology, Truncus... |
ORPHA:2516 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pu... |
OMIM:613490 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Lower limb undergrowth, Tet... |
OMIM:613630 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... |
OMIM:601186 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Bowing of the long bones, Ventricular septal defect, Proximal placement of thumb, Ab... |
ORPHA:93267 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip,... |
OMIM:601357 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios, Cleft palate, High palate, Arthrogryposis multiplex co... |
OMIM:615731 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower lip vermilio... |
OMIM:249670 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Mitral stenosis, Cam... |
ORPHA:2008 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Thin upper lip vermilion, Omphalocele, Ventricular septal defect, Exaggerated cupid's b... |
OMIM:618316 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Esophageal varix, Foot oligodactyly, Truncus arteriosus, B... |
OMIM:616589 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... |
OMIM:306955 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Bifid uvula, Cleft palate |
OMIM:258320 |
Emanuel Syndrome |
|
Inguinal hernia, Congenital hip dislocation, Ventricular septal defect, Truncus arteriosus, Denta... |
OMIM:609029 |
Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morpholog... |
ORPHA:254534 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Hydr... |
OMIM:617022 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Multiple joint contractures, Congenital diaphragmati... |
ORPHA:96170 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Clinodactyly, Hip dislocatio... |
OMIM:615583 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent... |
OMIM:228520 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Patent ductus ... |
OMIM:179613 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... |
OMIM:270100 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Dyspnea, Emphysema, Pneumothorax, Bronchiectasis, Abnormal pulmonary ... |
OMIM:612387 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2n... |
ORPHA:1388 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Primum atrial septal defect, Absent thumb |
OMIM:615272 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Missing ribs, Double outlet right ventricle, Cleft palate,... |
OMIM:220210 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Diastasis recti, Polyhydramnios, Coxa va... |
OMIM:608149 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... |
ORPHA:1067 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure |
ORPHA:60 |
Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Atrial septal defect, Patent foramen ovale, Hypoplastic tricuspi... |
OMIM:600001 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... |
OMIM:231100 |
Pentalogy Of Cantrell |
|
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic... |
ORPHA:1335 |
Trisomy 1Q |
|
Omphalocele, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Camptodactyly of finger, ... |
ORPHA:261344 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, A... |
OMIM:201000 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Bicuspid aortic valve, Cleft soft palate, Broad hallux, Abnormality ... |
OMIM:618529 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Abnormal heart morphology |
OMIM:614100 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Patent ductus arteriosus, 2-3 toe syndactyly, Clubbin... |
ORPHA:3304 |
Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, P... |
ORPHA:1263 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Cataract, Ventricular septal defect, Epiphyseal stippling |
OMIM:614876 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Jejunal atresia, Ventricular septal defect, Short thumb, Short middle phalanx of ... |
ORPHA:391646 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Posterior embryotoxon, Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary arter... |
OMIM:617992 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Ventricular septal defect, Postaxial polydactyly, Hypoplastic ilia, Hypo... |
OMIM:617895 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele, Narrow mouth, Downturned corners of mouth, Thin vermilion border, Long philtrum |
ORPHA:1906 |
Mmep Syndrome |
|
Median cleft lip, Ventricular septal defect, Orofacial cleft, Split foot, Triphalangeal thumb |
ORPHA:3434 |
14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Toe syndactyly, Ventricular septal defect, Exaggerated cupid's bow, Deep philtr... |
ORPHA:261120 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Dental crowding, Abnormality of the dentition, Small hand, Mitra... |
ORPHA:2868 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Ventricular septal defect, Sand... |
OMIM:158170 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ... |
ORPHA:261330 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Abnormal heart valve morphology |
ORPHA:171719 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Femoral bowing, Stillbirth, Aortic valve stenosis, Pu... |
OMIM:615415 |
Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Abnormal upper lip morphology, Omphalocele, Polyhydramnios |
ORPHA:531 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac... |
ORPHA:1937 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Short palm, Neonatal death, Patent f... |
OMIM:269860 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic ... |
OMIM:619657 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Polyhydramnios, Congenital diaphragmatic hernia, Metaphyseal widening, Flexion contr... |
OMIM:263210 |
Microcoria, Congenital |
|
Microcoria, Miosis, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... |
OMIM:313850 |
Okamoto Syndrome |
|
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventric... |
ORPHA:2729 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... |
OMIM:126320 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot |
OMIM:187500 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Short thumb, Patent ductus a... |
OMIM:612561 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... |
ORPHA:2141 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... |
OMIM:265380 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal rib morphology, Abnormal tricuspid valv... |
ORPHA:1354 |
Mosaic Trisomy 1 |
|
Polyhydramnios, Congenital diaphragmatic hernia, Orofacial cleft, Finger clinodactyly, Pulmonary ... |
ORPHA:1692 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Inguinal hernia, Cleft soft palate, Secundum atrial septal defect, Incr... |
OMIM:620183 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Omphalocele, Bowing of the long bones, Coxa valga, Abnormal rib morpho... |
ORPHA:2484 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Triploidy |
|
Omphalocele, Finger syndactyly, Intestinal malrotation, Polyhydramnios, Non-midline cleft lip, Cl... |
ORPHA:3376 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension |
OMIM:210050 |
Tetralogy Of Fallot And Glaucoma |
|
Developmental glaucoma, Tetralogy of Fallot |
OMIM:187501 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Em... |
ORPHA:36412 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Absent thumb, Short thumb, Patent ductus arteriosus, 2-3 toe syndactyl... |
OMIM:617516 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios |
OMIM:619967 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Fryns Syndrome |
|
Tented upper lip vermilion, Polyhydramnios, Congenital diaphragmatic hernia, Abnormal aortic arch... |
ORPHA:2059 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Narrow mouth, Atria... |
ORPHA:3469 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtr... |
ORPHA:251076 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Acalvaria |
|
Omphalocele, Postaxial hand polydactyly, Cleft palate |
ORPHA:945 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
ORPHA:2143 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Tongue fasciculations |
OMIM:253300 |
C Syndrome |
|
Omphalocele, Short metacarpal, Toe syndactyly, Ventricular septal defect, Accessory oral frenulum... |
OMIM:211750 |
Microcephaly-Cardiomyopathy Syndrome |
|
Sandal gap, Ventricular septal defect, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... |
ORPHA:2515 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Osteolysis involving bones of the ... |
ORPHA:371428 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Pulmonary embolism, Venous ... |
ORPHA:90308 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Omphalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete... |
OMIM:264480 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, S... |
OMIM:145420 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... |
OMIM:615524 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, San... |
ORPHA:477817 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
16P13.11 Microduplication Syndrome |
|
Arachnodactyly, Ventricular septal defect, Coarctation of aorta, Hand polydactyly, Transposition ... |
ORPHA:261243 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery at... |
OMIM:616894 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de... |
OMIM:235750 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Widely spaced teeth, Clinodac... |
OMIM:619717 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o... |
ORPHA:1329 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Tooth agenesis, Abnorma... |
ORPHA:1166 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... |
ORPHA:2712 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... |
OMIM:608227 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
Distal Duplication 15Q |
|
Omphalocele, Arachnodactyly, Camptodactyly of finger, Downturned corners of mouth, High palate, L... |
ORPHA:1707 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypopl... |
ORPHA:94066 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... |
OMIM:311300 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... |
DECIPHER:39 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
3Mc Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Dental crowding, Single interphalangeal crease of fifth f... |
OMIM:257920 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Thin vermilion border, Tetralogy of Fallot, Brachydactyly |
ORPHA:3303 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula |
OMIM:619239 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,... |
OMIM:231530 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... |
ORPHA:2255 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental morphology, Abnormal ... |
ORPHA:2092 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
Heart And Brain Malformation Syndrome |
|
Polyhydramnios, Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Humeroradial synostosis, Rib fusion, Pulmonic stenosis, Truncus arterios... |
OMIM:134780 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, Osteopathia striata, High palate, Clinodactyly of the 5th finger... |
OMIM:300373 |
Mucolipidosis Type Iii |
|
Inguinal hernia, Abnormal heart valve morphology, Cleft palate, Abnormal aortic valve morphology,... |
ORPHA:577 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Aortic ro... |
OMIM:616652 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Ventricul... |
OMIM:600373 |
Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal mitral valve morphology, Tetralogy ... |
ORPHA:1919 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Clinodactyly, A... |
ORPHA:2209 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia... |
OMIM:620365 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Hamartoma of t... |
OMIM:616300 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Omphalocele |
OMIM:614450 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Atrial septal defect, Phocomelia, Microgastria, Aplastic clavicle, Hi... |
ORPHA:2538 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Reticu... |
OMIM:618278 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Thin upper lip vermilion, Prominent fingertip pads, Congenital hip dislocation, Toe ... |
OMIM:609625 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Increased proportion of exhausted T cells |
OMIM:618307 |
Vacterl/Vater Association |
|
Omphalocele, Finger syndactyly, Polyhydramnios, Congenital diaphragmatic hernia, Preaxial hand po... |
ORPHA:887 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Atrial septal defect, Broad thumb, Smooth philtrum, Brachy... |
OMIM:614526 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Inguinal hernia, Mitral valve prolapse, Long philtrum, Joint contracture of the hand, Camptodactyly |
OMIM:211960 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Anteriorly placed anus, Glossoptosis, High palate, Cl... |
OMIM:117650 |
Pseudodiastrophic Dysplasia |
|
Omphalocele, Phalangeal dislocation |
ORPHA:85174 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Tachypnea, Hepatocellular necrosis, Periportal fibrosis, Respiratory ... |
OMIM:201475 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Holt-Oram Syndrome |
|
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... |
ORPHA:392 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal bones, Anodonti... |
ORPHA:90652 |
Constricting Bands, Congenital |
|
Omphalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Gastroschisis, Ectopia ... |
OMIM:217100 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Increased nuchal translucency, Mitral regurgitation, Single ventricle, O... |
OMIM:619879 |
Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria... |
OMIM:612946 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Inguinal hernia, Ventricular septal defect, High palate, Broad alveolar ridges, Clinodactyly of t... |
OMIM:314320 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Inguinal hernia, Tetralogy of Fallot |
OMIM:615542 |
Megalocornea |
|
Iridodonesis, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumi... |
OMIM:309300 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Trigonocephaly 1 |
|
Omphalocele, High, narrow palate, Meckel diverticulum, Long philtrum |
OMIM:190440 |
Down Syndrome |
|
Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventricular canal defect, Patent f... |
OMIM:190685 |
Schisis Association |
|
Omphalocele, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft palate, Unilateral... |
ORPHA:63862 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Coarctation of aorta |
OMIM:140850 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Atrial s... |
ORPHA:101028 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Ventricular septal defect, Short toe, Patent ductus arteriosus, O... |
ORPHA:1519 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:3380 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of ... |
OMIM:620393 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Inguinal hernia, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Broad secon... |
ORPHA:3369 |
Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, High palate, Atrial septal defect, Patent foramen ovale, Cleft l... |
ORPHA:2745 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Broad hallux, Sa... |
OMIM:600987 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Polyhydramnios... |
OMIM:247200 |
Eosinophilia, Familial |
|
Eosinophilia, Recurrent bronchitis, Leukocytosis, Myocardial eosinophilic infiltration, Anemia, T... |
OMIM:131400 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Macroglossia, Umbilical hernia |
OMIM:275100 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Short humerus, Omphalocele, Hypoplastic scapulae, Coxa valga, Flared m... |
OMIM:309350 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,... |
OMIM:601163 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Fryns Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Polyhydramnios, Prominent fingertip pads... |
OMIM:229850 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Polyhydramnios, Anterio... |
OMIM:618624 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital dia... |
OMIM:618454 |
Hypophosphatasia |
|
Anemia, Emphysema, Respiratory insufficiency |
ORPHA:436 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Downturned corners of mouth... |
OMIM:618974 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Ileal atr... |
OMIM:243150 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Weill-Marchesani Syndrome |
|
Cataract, Ventricular septal defect, Ectopia lentis, Short thumb, Pulmonic stenosis, Aortic valve... |
ORPHA:3449 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Cleft palate... |
ORPHA:2021 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Ventricular septal defect, Rocker bottom foot, Wide mouth, Delayed erupt... |
OMIM:618506 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... |
ORPHA:508498 |
Woolly Hair Nevus |
|
Brachydactyly, Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal aortic m... |
ORPHA:3405 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Temple-Baraitser Syndrome |
|
Broad hallux, Proximal placement of thumb, Adducted thumb, Wide mouth, Downturned corners of mout... |
OMIM:611816 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Prominent fingertip pads, Sandal gap, High, narrow palate, Patent ductu... |
OMIM:612863 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Inter... |
ORPHA:163979 |
Burn-Mckeown Syndrome |
|
Inguinal hernia, Ventricular septal defect, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Th... |
OMIM:608572 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Arachnodactyly, Mitral valve prolapse, Ascending aortic dissection, Hig... |
OMIM:616166 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short phi... |
ORPHA:261190 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Inguinal hernia, Congenital hip dislocation, Patent ductus arteriosus, Deviation of finger, Abnor... |
ORPHA:2412 |
Lambert Syndrome |
|
Wide mouth, Branchial anomaly, Ventricular septal defect, Inguinal hernia |
ORPHA:1296 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Overlapping toe, Polyhydramnios,... |
ORPHA:254528 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Cleft hard palate, Delayed epiphyseal ossification, Fragment... |
ORPHA:166016 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n... |
OMIM:256000 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch |
OMIM:300712 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot... |
OMIM:192430 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect |
OMIM:613870 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cl... |
ORPHA:3186 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Inguinal hernia, Dental crowding, Arachnodactyly, Adducted thumb, Mitral valve prolapse, Atrophic... |
OMIM:615539 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, High palate, Short palm, Atrial septal defect, Short phalanx of fi... |
OMIM:249420 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... |
OMIM:615355 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
OMIM:222448 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Narrow mouth, Short foot, Everted lower lip vermilion, Long philtrum, ... |
ORPHA:228399 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract, Genu valgum, Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Cervical ribs, High palate |
OMIM:609654 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left v... |
OMIM:620203 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Polyhydramnios, High, narrow palate, Narrow palate, Cleft palate, High... |
OMIM:615102 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Prominent fingertip pads, Ventricular septal defect, Overlapping toe, H... |
OMIM:618494 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Rocker bottom foot, Polyhydramnios, Coxa valga, Postaxial hand polydac... |
OMIM:301056 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Cleft maxillary alveolar ridge, Finger clinodactyly, ... |
ORPHA:508488 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... |
OMIM:127550 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Corneal opacity, Metaphyseal spurs, ... |
ORPHA:85167 |
Miller Fisher Syndrome |
|
Anisocoria, Mydriasis |
ORPHA:98919 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ... |
OMIM:263630 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow... |
ORPHA:83473 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Atria... |
ORPHA:261272 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopathy, Hepatic necrosis, P... |
ORPHA:71212 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingival overgrowth, Mitral ... |
ORPHA:137834 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Tented upper lip vermilion, Ventricular sep... |
OMIM:615582 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palat... |
OMIM:301043 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Preaxial hand polydactyly, Cervical ribs, Prune belly, Anal atresia |
OMIM:601389 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Aut... |
ORPHA:1572 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Dyspnea, Cardiorespiratory arres... |
ORPHA:26791 |
Alg9-Cdg |
|
Villous atrophy, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow... |
ORPHA:79328 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Hec Syndrome |
|
Cardiomyopathy, Abnormal pupil morphology, Developmental cataract, Endocardial fibroelastosis |
ORPHA:2119 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Asthma, Hepatic necrosis, Bronchospasm, Rhinorrhea |
ORPHA:100093 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... |
ORPHA:93316 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Clinodactyly, Patent ductus arteriosus, Double outlet right ventricle, Supravalva... |
OMIM:618164 |
Mitral Valve Prolapse 1 |
|
High, narrow palate, High palate, Mitral valve prolapse |
OMIM:157700 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total... |
ORPHA:244 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, High palate, Abnormal morphology of ulna, Mitral valve prolapse |
ORPHA:2233 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Widely spaced teeth, High palate, Atrial septal defect, Microdontia, Promi... |
OMIM:612474 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Missing ribs, Abnormal rib morphology, Tracheoesoph... |
ORPHA:1834 |
Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft ... |
OMIM:603194 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Intestinal malrotation, Polyhydramnios, Postaxial hand polydactyly, Cleft palate, Or... |
ORPHA:2166 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand polydactyly... |
ORPHA:46627 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Radial bowing, Intestinal malrotation, Abnormal rib morpho... |
ORPHA:3035 |
Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial... |
ORPHA:139466 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Alveolar ridge overgrowth... |
OMIM:612938 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Flexion contracture, Cleft palate, Open mouth, Slender finger |
OMIM:147800 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch |
ORPHA:250989 |
Alagille Syndrome |
|
Keratoconus, Hypoplasia of the ulna, Ventricular septal defect, Corneal dystrophy, Abnormal pupil... |
ORPHA:52 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thu... |
ORPHA:1120 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ... |
ORPHA:1617 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Congenital diaphragmatic hernia, High, narrow palate,... |
ORPHA:373 |
Isolated Anencephaly |
|
Omphalocele, Cleft lip, Congenital diaphragmatic hernia |
ORPHA:563609 |
German Syndrome |
|
Camptodactyly of finger, Lymphedema, Orofacial cleft, Abnormal cardiac septum morphology, Everted... |
ORPHA:2077 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
3P25.3 Microdeletion Syndrome |
|
Proximal placement of thumb, High, narrow palate, Deep philtrum, Knee flexion contracture, Downtu... |
ORPHA:435638 |
Polyvalvular Heart Disease Syndrome |
|
Abnormal heart valve morphology, Dental crowding, Mitral valve prolapse, High palate, Short philt... |
ORPHA:228410 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion border, Narrow mouth... |
OMIM:615502 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... |
ORPHA:363705 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Patent ductus arte... |
ORPHA:2970 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Overlapping toe, Deep philtrum, Patent ductus arteriosus, Double outle... |
ORPHA:163956 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Patent ductus arteriosus, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the an... |
OMIM:602482 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Tetralogy of Fallot, Abnormality of the philtrum, Abnormality of the den... |
ORPHA:276422 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... |
OMIM:113000 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Interrup... |
OMIM:164280 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Thin upper lip vermilion, Dental crowding, Sandal gap, Short toe, Pierre-Robin ... |
OMIM:617877 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Abnormal ao... |
ORPHA:1596 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic perip... |
OMIM:231680 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Paten... |
OMIM:618142 |
Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Broad hallux, Velopharyngeal insufficiency, Submucous cleft har... |
OMIM:619314 |
Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... |
OMIM:619267 |
Asbestos Intoxication |
|
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... |
ORPHA:2302 |
Joubert Syndrome 18 |
|
Trident pelvis, Bowing of the long bones, Ventricular septal defect, Postaxial polydactyly, Cleft... |
OMIM:614815 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect... |
OMIM:300166 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Intestinal malrotation, Polyhydramnios, Neoplasm of the heart, Umbilical hernia, Mic... |
ORPHA:2241 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Cleft lip, Pulmonary artery ... |
OMIM:280000 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Abnormal aortic arch morphology, Short philtrum, Atrial septal defect, Arachnodac... |
ORPHA:567 |
Nocardiosis |
|
Respiratory distress, Brain abscess, Pericarditis, Liver abscess, Abnormal heart valve morphology... |
ORPHA:31204 |
Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Thick lower lip vermilion, ... |
OMIM:618950 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa... |
ORPHA:17 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Polyhydramnios,... |
OMIM:616897 |
3C Syndrome |
|
High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Atrial septal defect, ... |
ORPHA:7 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Inguinal hernia, Submucous cleft hard palate, Flexion contracture, Epiphyseal stip... |
OMIM:222765 |
Stickler Syndrome Type 1 |
|
Cleft palate, Mitral valve prolapse, Abnormal epiphysis morphology, Long philtrum, Abnormal verte... |
ORPHA:90653 |
Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Broad ha... |
OMIM:300963 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Polyhydramnios, Deep philtrum, Flexion contracture, Abnormal aortic a... |
ORPHA:96334 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Dias... |
ORPHA:329224 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, Pneumothorax, Chylopericardiu... |
ORPHA:538 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, High, narrow palate, Mitral valve prolapse, Short palm, Failure of eruption of per... |
ORPHA:3238 |
Esophageal Atresia |
|
Omphalocele, Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios... |
ORPHA:1199 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Decre... |
OMIM:619632 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... |
ORPHA:2847 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Cleft lip, Patent ductus arteriosus, Narrow palate, Cleft palate, Contracture of the proximal int... |
OMIM:618223 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Netherton Syndrome |
|
Asthma, Emphysema, Recurrent respiratory infections, Dehydration |
ORPHA:634 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Arachnodactyly, Cleft palate, Narrow mouth |
ORPHA:93946 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Cleft l... |
OMIM:619343 |
Marshall-Smith Syndrome |
|
Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto... |
OMIM:602535 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Long philtrum, Atrial septa... |
OMIM:300887 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia |
ORPHA:95706 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:214300 |
Oculoauriculofrontonasal Syndrome |
|
Pericallosal lipoma, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad phil... |
ORPHA:398156 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Ventricular septal defect, Arachnodactyly, Edema, Cleft lip, Partial duplication o... |
OMIM:618348 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Cardioacrofacial Dysplasia 2 |
|
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep philtrum, Postaxial hand... |
OMIM:619143 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Thick lower lip ve... |
OMIM:220500 |
Filippi Syndrome |
|
Ventricular septal defect, 2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Thin ve... |
OMIM:272440 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Abnormal cardiac septum morphology, Stillbirth, Single ventricle |
OMIM:308050 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Ventricular septal defect, Long fingers, Patent ductus arteriosus, Increased nuchal tra... |
OMIM:615668 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, E... |
ORPHA:2345 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Keloids, Ventricular septal defect |
ORPHA:357225 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Short lingual frenulum, Anomalous origin of left coronary artery from the pulmonary artery, Midgu... |
ORPHA:2326 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Clinodactyly, Pierre-Robin sequence, Small hand... |
OMIM:619980 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Postaxi... |
OMIM:619142 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophage... |
OMIM:314390 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P... |
ORPHA:3378 |
Zechi-Ceide Syndrome |
|
Sandal gap, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morphology, Downturned corn... |
ORPHA:217017 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Dilat... |
OMIM:616730 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios |
OMIM:616867 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar synostosis, Atrial... |
ORPHA:921 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Open mouth, Ventricular septal defect |
OMIM:616816 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Upper limb undergro... |
OMIM:169400 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Periorbital edema, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, ... |
OMIM:613177 |
Orofaciodigital Syndrome Type 2 |
|
Central retinal vessel vascular tortuosity, Finger clinodactyly, High palate, Short tibia, Atriov... |
ORPHA:2751 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Tachypnea, Abnormal pulmonary i... |
OMIM:613658 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Dyspnea, Emphysema, Bronchiectasi... |
OMIM:181000 |
Distal Deletion 19P |
|
Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Cleft palate, Keloids, Short... |
ORPHA:96129 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Arachnodactyly, Sandal gap, Genu valgum, High palate, Atrial septal defect, Umbilical hernia |
ORPHA:1035 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d... |
OMIM:616331 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Respiratory distress, Elevated circulating aspartate aminotr... |
OMIM:256810 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:99811 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, High palate, Short philtrum, Hernia, Clinodactyly ... |
ORPHA:3306 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Bartsocas-Papas Syndrome 1 |
|
Flexion contracture, Hypoplastic iliac wing, Short phalanx of finger, Patent foramen ovale, Infer... |
OMIM:263650 |
Desbuquois Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Coxa valga, Aplasia/Hypoplasia of the abdomin... |
ORPHA:1425 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Short 4th metacarpal, Mitral valve prolapse |
ORPHA:2183 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... |
OMIM:617616 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Co... |
ORPHA:1488 |
Lymphangiectasia, Intestinal |
|
Edema, Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs |
OMIM:152800 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft ... |
OMIM:153400 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Velopharyngeal insuf... |
OMIM:614701 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Polydactyly, Hernia, Smooth philtrum |
OMIM:602501 |
White Forelock With Malformations |
|
Finger syndactyly, Deep philtrum, Abnormal rib morphology, Clinodactyly of the 5th finger, Atrial... |
ORPHA:2475 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-shaped m... |
OMIM:617926 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Short ... |
ORPHA:3163 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Meckel Syndrome, Type 1 |
|
Lobulated tongue, Syndactyly, Cleft upper lip, Patent ductus arteriosus, Postaxial foot polydacty... |
OMIM:249000 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Ventricular septal defect, Aganglionic megacolon, Tarsal synostosis, Postaxial... |
ORPHA:2473 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... |
OMIM:217085 |
Myhre Syndrome |
|
Short palm, Brachydactyly, Inguinal hernia, Femoral hernia, Submucous cleft hard palate, Abnormal... |
ORPHA:2588 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bowing of the long bones, Ventricular septal defect, Bicuspid aortic valve, Arac... |
OMIM:121050 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham... |
OMIM:174300 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Postaxial hand polydactyly, Wide... |
OMIM:136760 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Thick... |
OMIM:618027 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch |
OMIM:614846 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... |
OMIM:617201 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, High pa... |
OMIM:608670 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, A... |
OMIM:304120 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Lymphatic Malformation 13 |
|
Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Mitral reg... |
OMIM:620244 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C... |
OMIM:620107 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Trisomy 9P |
|
Clinodactyly of the 5th finger, Abnormal pupil morphology, Brachydactyly, Impacted tooth |
ORPHA:236 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Congenital diaphragmatic herni... |
ORPHA:251071 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Polyhydramnios, Hypop... |
ORPHA:2347 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Dysplasia of the femoral head, High palate, Hypodontia, Atrial septal defec... |
OMIM:616854 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... |
OMIM:615981 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... |
OMIM:115470 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Tented upper lip vermilion, Ventricular septal defect, Dental crowding, Rocker bottom ... |
OMIM:612582 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Median cleft lip, Ventricular septal defect, Polyhydramnios, Preaxial hand polydacty... |
OMIM:236680 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic... |
OMIM:617450 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr... |
ORPHA:88630 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Telangiectasia, Atrial... |
OMIM:606003 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Hypoplasti... |
ORPHA:2876 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Ventricular septal defect, Non-midline cleft lip, Cleft palate, Umbi... |
ORPHA:1770 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... |
OMIM:142900 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Cataract, Hypoplastic left heart, Abnormal rib morphology |
ORPHA:2772 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... |
ORPHA:290 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma, Cleft palate |
ORPHA:3374 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... |
OMIM:618779 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect,... |
OMIM:617660 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ... |
OMIM:619472 |
Loeys-Dietz Syndrome 4 |
|
Inguinal hernia, Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagu... |
OMIM:614816 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Short thumb, Patent duc... |
OMIM:612562 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Dehydration, Atrial septal defect, Double outlet right ventricle, Ascites |
ORPHA:1667 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... |
ORPHA:97214 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition... |
ORPHA:96167 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus |
OMIM:614886 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Pituitary Apoplexy |
|
Mydriasis |
ORPHA:95613 |
Charge Syndrome |
|
Polyhydramnios, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Pulmonary ... |
OMIM:214800 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:3201 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Ventral hernia, Prominent superficial veins, Inguinal hernia, Carotid artery steno... |
OMIM:618000 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger sy... |
OMIM:235510 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... |
ORPHA:2396 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Abnormality of the dentition, Carious teeth, Muscular ventricular septal defect,... |
ORPHA:363444 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Downturned corners of mouth, W... |
OMIM:618067 |
Woods Syndrome |
|
3-4 finger cutaneous syndactyly, Thin vermilion border, Ventricular septal defect |
OMIM:615236 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:210122 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Holoprosencephaly |
|
Omphalocele, Brachydactyly, Median cleft lip, Ventricular septal defect, Abnormal pulmonary valve... |
ORPHA:2162 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Proximal placement of thumb, Clinodactyly of the 5th toe, Patent ductu... |
OMIM:620113 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Thin upper lip vermilion, Short metacarpal, Ventricular septal defe... |
OMIM:616651 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Monkey wrench femoral neck, Patent ductus arteriosus, Increased nuchal... |
OMIM:618870 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Hip dislocation |
OMIM:619083 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flat acetabular roof, Coarct... |
OMIM:617159 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Polyhydramnios, Aplasia/Hyp... |
ORPHA:2256 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Boudin-Mortier Syndrome |
|
Long toe, Mallet finger, Arachnodactyly, Long fingers, Pseudoepiphyses of the proximal phalanges ... |
OMIM:619543 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... |
OMIM:249270 |
Congenital Contractural Arachnodactyly |
|
Arachnodactyly, Intestinal malrotation, Camptodactyly of finger, Flexion contracture, Tracheoesop... |
ORPHA:115 |
Glanzmann Thrombasthenia |
|
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Menometrorrhagia, Impaired thrombin-in... |
ORPHA:849 |
Arachnoid Cyst |
|
Mydriasis |
ORPHA:2356 |
Digeorge Syndrome |
|
Inguinal hernia, Ventricular septal defect, Femoral hernia, High, narrow palate, Patent ductus ar... |
OMIM:188400 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocel... |
ORPHA:90062 |
Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis |
OMIM:259720 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... |
OMIM:615279 |
Glanzmann Thrombasthenia 1 |
|
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... |
OMIM:273800 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Broad hallux, Sandal gap, Persistence of primary teeth, Ectopia pupillae, Astigmatism, ... |
OMIM:618727 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Lymphedema,... |
OMIM:235255 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy, Arthrogryposis multiple... |
OMIM:607598 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Clinodactyly, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great a... |
OMIM:616789 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Polyhydramnios... |
OMIM:300990 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Ab... |
ORPHA:1926 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect |
OMIM:620184 |
Dental Anomalies And Short Stature |
|
Mitral valve prolapse, Oligodontia, Widely spaced teeth, Microdontia, Amelogenesis imperfecta |
OMIM:601216 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Cleft palate, Coarctation of aorta |
OMIM:620210 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Clinodactyly, Abnormal heart morphology, Downturned corner... |
ORPHA:369891 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, 2-3 toe syndactyly, Wide mouth, High palate, Clinodactyly of the 5th f... |
OMIM:613398 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... |
ORPHA:1071 |
Analbuminemia |
|
Patent ductus arteriosus, Oligohydramnios, Hypotension, Edema |
OMIM:616000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm |
ORPHA:98892 |
Multiple Pterygium Syndrome, X-Linked |
|
Edema, Cleft upper lip, Polyhydramnios, Flexion contracture, Cleft palate, Thin ribs, Hypoplastic... |
OMIM:312150 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Mass Syndrome |
|
Ascending aortic dissection, Arachnodactyly, Aortic aneurysm, Mitral valve prolapse |
OMIM:604308 |
Fabry Disease |
|
Abnormal endocardium morphology, Lymphedema, Dyspnea, Emphysema, Chronic pulmonary obstruction, R... |
ORPHA:324 |
Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Perimembranous ventricular septal defect, High palate, Widely spaced teeth, Pulm... |
OMIM:618205 |
Lujan-Fryns Syndrome |
|
Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, High pala... |
ORPHA:776 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Cleft lip, Cleft palate, Pulmonic stenosis, Camptodactyly, Clinodactyl... |
OMIM:619123 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Coarcta... |
ORPHA:1923 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... |
ORPHA:40366 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Split hand, Clubbing, Absen... |
OMIM:600460 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Ventricular septal defect, Sandal ... |
OMIM:270450 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Absent radius, Preaxial hand polydactyly,... |
ORPHA:233 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
Lymphatic Malformation 6 |
|
Genital edema, Prune belly, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydra... |
OMIM:616843 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Postaxial polydactyl... |
ORPHA:404440 |
Colonic Atresia |
|
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia |
ORPHA:1198 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Ventricular septal defect, Cleft palate, Atrial septal defect, Clinodactyly, Paten... |
OMIM:614261 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Thin upper lip vermilion, Flexion contracture, Cleft palate, Long philtrum, Neonatal... |
OMIM:619124 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Widened atrophic scar, Equinus calcaneus, Prominent veins on trunk, Shoulder dislocation, High pa... |
ORPHA:536532 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Delayed eruption of permanent teeth, Narrow mouth, Atrial septal def... |
OMIM:619356 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Tented upper lip vermilion, Ventricular septal defect, Rocker bottom foot, Pro... |
OMIM:619762 |
Beaulieu-Boycott-Innes Syndrome |
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Ventricular septal defect, Carious teeth, Velopharyngeal insufficiency, Patent ductus arteriosus,... |
OMIM:613680 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
Respiratory Distress Syndrome In Premature Infants |
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Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... |
OMIM:267450 |
Developmental And Epileptic Encephalopathy 18 |
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Atrial septal defect, Oligohydramnios, Polyhydramnios, Aortic regurgitation |
OMIM:615476 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
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Rocker bottom foot, Polyhydramnios, Tapered finger, Pericardial effusion, Carious teeth, Multiple... |
OMIM:620070 |
Tarp Syndrome |
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Meckel diverticulum, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the radius, Subdura... |
OMIM:311900 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
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Inguinal hernia, Arachnodactyly, Overlapping toe, Metatarsus adductus, High, narrow palate, Short... |
ORPHA:436003 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, High iliac wing, Cle... |
ORPHA:2780 |
Caudal Duplication |
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Omphalocele, Intestinal duplication |
ORPHA:1756 |
Kapur-Toriello Syndrome |
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Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Shor... |
OMIM:244300 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Thin upper lip vermilion, Congenital hip dislocation, Ventricular septal defect, Bicuspid aortic ... |
ORPHA:457279 |
3Q29 Microduplication Syndrome |
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Cataract, Ventricular septal defect, Toe syndactyly, Sclerocornea, Sandal gap, Camptodactyly of t... |
ORPHA:251038 |
Tetraamelia Syndrome 2 |
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Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... |
OMIM:618021 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
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Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... |
OMIM:619910 |
Holoprosencephaly 14 |
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Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... |
OMIM:619895 |
Thanatophoric Dysplasia Type 2 |
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Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Polyhydramnios |
ORPHA:93274 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Finger joint hypermobility, Bifid uvula, Chondr... |
OMIM:601492 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulcer... |
ORPHA:436252 |
Achondrogenesis, Type Ii |
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Broad long bones, Edema, Short tubular bones of the hand, Polyhydramnios, Hydrops fetalis, Cleft ... |
OMIM:200610 |
Periventricular Nodular Heterotopia 1 |
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Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Orofaciodigital Syndrome Type 10 |
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Cleft soft palate, Accessory oral frenulum, Duplication of thumb phalanx, Tarsal synostosis, Shor... |
ORPHA:2756 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
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Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return, Hernia of the a... |
ORPHA:2184 |
Noonan Syndrome 10 |
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Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen... |
OMIM:616564 |
Nephronophthisis 16 |
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Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Kagami-Ogata Syndrome |
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Omphalocele, Pursed lips, Inguinal hernia, Diastasis recti, Polyhydramnios, Coxa valga, Coat hang... |
ORPHA:254519 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
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Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Cataract, Broad long bones, Fifth finger distal phalanx clinodactyly, ... |
OMIM:257850 |
Sarcoidosis |
|
Abnormal lung morphology, Increased T cell count, Leukopenia, Cough, Emphysema, Hepatomegaly, Hem... |
ORPHA:797 |
Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctation of the aorta |
OMIM:215045 |
Al-Raqad Syndrome |
|
Thin upper lip vermilion, Sandal gap, Narrow mouth, Atrial septal defect, Brachydactyly |
OMIM:616459 |
Alternating Hemiplegia Of Childhood |
|
Mydriasis |
ORPHA:2131 |
Chromosome 18Q Deletion Syndrome |
|
Proximal placement of thumb, Downturned corners of mouth, Short philtrum, Atrial septal defect, B... |
OMIM:601808 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Ventricular septal defect, Aortic root aneurysm, Short philtrum, Camptodactyly, A... |
OMIM:301039 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Perlman Syndrome |
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Ascites, Polyhydramnios, Interrupted aortic arch, Edema |
OMIM:267000 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Prolonged bleeding time, Lymphedema, Abnormal neu... |
ORPHA:3226 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Polyhydramnios |
ORPHA:2655 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Abnormal intrahepatic bile duct m... |
ORPHA:363618 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Sub... |
OMIM:114300 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Inguinal hernia, Calcaneovalgus deformity, Mitral valve prolapse |
OMIM:225320 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema, Oligohydramnios |
OMIM:219100 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of ... |
OMIM:615630 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of a... |
OMIM:614857 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Abnormal tricuspid valv... |
ORPHA:1507 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Inguinal hernia, Abnormal heart valve morphology, Dental crowding, Sandal gap, Rec... |
ORPHA:230851 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Ventricular septal defect, Cryptorchidism, Patent ductus arte... |
ORPHA:2962 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ... |
OMIM:617982 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Dental crowding, Intestinal malrotation, Arachnodactyly, Carious teeth... |
OMIM:617602 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Selective tooth agenesis, Knee flexion contracture, Increased density of long ... |
OMIM:305620 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Abn... |
ORPHA:99104 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Mitral valve prolapse, Thi... |
OMIM:314400 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Prune belly, Ventricular septal defect, Increased overbite |
OMIM:618504 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Pate... |
OMIM:605275 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Un... |
OMIM:619103 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Sandal gap, Tapered finger,... |
OMIM:617061 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, Overlapping toe, Down-sloping shoulders, Tap... |
OMIM:617452 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Proximal placement of ... |
OMIM:618619 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Sclerocornea, Esophageal atresia, Patent ductus arte... |
ORPHA:77298 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Inguinal hernia, Right atrial enlargement, Esophageal varix, Pulmonic ... |
OMIM:616028 |
Cardiofaciocutaneous Syndrome 2 |
|
High palate, Mitral valve prolapse |
OMIM:615278 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Brachydactyly, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura... |
OMIM:617397 |
Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... |
ORPHA:93930 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept... |
ORPHA:2519 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Short long b... |
OMIM:619184 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Cleft palate, At... |
OMIM:611134 |
Cutis Marmorata Telangiectatica Congenita |
|
Short lower limbs, Leukocoria, Bowing of the legs |
OMIM:219250 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Cleft palate, ... |
ORPHA:2549 |
Charge Syndrome |
|
Aortic arch aneurysm, Polyhydramnios, Patent ductus arteriosus, Abnormal cardiac septum morpholog... |
ORPHA:138 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial ... |
ORPHA:292 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Wide mouth, Increased nuchal translucency, Ventricular septal defect, Widely-spaced incisors |
OMIM:617635 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Congestive heart failure, Patent ductus arteriosus, Cardiomyopathy... |
OMIM:616866 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... |
OMIM:177850 |
Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Polyhydramnios, Abnormality of the ... |
ORPHA:3071 |
Catel-Manzke Syndrome |
|
Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Short metacarpal, Overrid... |
OMIM:616145 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Velopharyngeal insuffic... |
ORPHA:199302 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Cleft palate |
OMIM:257910 |
Chime Syndrome |
|
Short palm, Ventricular septal defect, Abnormal dental morphology, Aplastic clavicle, Abnormality... |
ORPHA:3474 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Ventricular septal defect, Narrow mouth |
OMIM:245552 |
Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal d... |
OMIM:618354 |
Classic Multiminicore Myopathy |
|
Multiple joint contractures, Mitral valve prolapse, Hip dysplasia, High palate, Right ventricular... |
ORPHA:324604 |
Meier-Gorlin Syndrome 4 |
|
Cryptorchidism, Emphysema |
OMIM:613804 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Hyperextensibility of the finger joints, Toe syndactyly, Ventricular se... |
ORPHA:505237 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis,... |
OMIM:611812 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental c... |
OMIM:300967 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Sandal gap, Cong... |
OMIM:612530 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Cholestasis, Mitr... |
OMIM:620233 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Shoulder dislocation, Atria... |
OMIM:245600 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Patent ductus arteri... |
ORPHA:457193 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Situs inversus tot... |
ORPHA:1908 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Oligohydramnios, Atrial se... |
OMIM:267010 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Irregular femoral epiphysis, Pierre-Robin sequence, Submucous cleft hard palate, ... |
OMIM:108300 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Postaxial hand polydactyly, Pulmonary artery stenosis, Everted lower l... |
ORPHA:75389 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
2Q31.1 Microdeletion Syndrome |
|
Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, Clinodactyly o... |
ORPHA:251014 |
Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Bifid sternum, Anal atresia |
ORPHA:63260 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Hyperextensibility of the finger joints, Ventricular septal defect, Den... |
OMIM:309520 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Dyspnea, Bronchiectasis, Emphysema, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Orofacial cleft, Tet... |
ORPHA:2328 |
Pagod Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormal rib morphology, Pu... |
ORPHA:991 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital ... |
OMIM:614294 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Abnormal cardiac ventricle morphology, Mitral valve prolapse, Hypo... |
ORPHA:284979 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
ORPHA:1842 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... |
OMIM:200990 |
Weill-Marchesani Syndrome 1 |
|
Cataract, Ventricular septal defect, Ectopia lentis, Patent ductus arteriosus, Microspherophakia,... |
OMIM:277600 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Smooth philtrum, Short palm, Omphalocele, Diastasis recti, Bifid distal phalanx of the thumb, Pyl... |
OMIM:618419 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Long fingers, Hip dislocation, Cleft palate, Hip dysplasia, Thick verm... |
ORPHA:447980 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Deep philtrum, T... |
OMIM:615879 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Protruding tongue, Abnormal thumb morphology, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus totalis, Mitral valve pro... |
OMIM:609008 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Noonan Syndrome 13 |
|
Overlapping toe, Tapered finger, Metatarsus adductus, Lymphedema, Clinodactyly, Mitral valve prol... |
OMIM:619087 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Proxi... |
OMIM:610759 |
Stevenson-Carey Syndrome |
|
Narrow mouth, Pierre-Robin sequence, Downturned corners of mouth, Hip dysplasia, Left superior ve... |
OMIM:611961 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Fl... |
OMIM:271640 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Dental crowding, Internally rotated shoulders, Fetal asc... |
OMIM:619503 |
Fg Syndrome Type 1 |
|
Dental crowding, Fused teeth, High palate, Atrial septal defect, Finger syndactyly, Malrotation o... |
ORPHA:93932 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Nonproductive cough, Atelectasis, Dyspnea, Wheezing, Asthma, Hypersensitivity pneumonit... |
ORPHA:2902 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... |
ORPHA:261311 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Thin upper lip vermilion, Inguinal hernia, Contracture of the proximal interphalangeal joint of t... |
OMIM:300998 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Intestinal malrotation,... |
ORPHA:99776 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Umbilical hernia, Ope... |
OMIM:617751 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
X Small Rings |
|
Thin upper lip vermilion, Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Taper... |
ORPHA:96201 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, High, narrow palate, Small hand, Leukocoria, Cleft palate, Short foot |
ORPHA:2714 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... |
OMIM:300845 |
Cocaine Intoxication |
|
Mydriasis |
ORPHA:90068 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, 2-3 toe syndactyly, Cleft... |
OMIM:616449 |
Proteus-Like Syndrome |
|
Cataract, Venous insufficiency, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis |
ORPHA:2969 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short metacarpal, Patent ductus art... |
OMIM:608328 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Doors Syndrome |
|
Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Downturned corners of mouth, ... |
ORPHA:79500 |
C Syndrome |
|
Omphalocele, Toe syndactyly, Accessory oral frenulum, Polyhydramnios, Congenital diaphragmatic he... |
ORPHA:1308 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Lymphedema |
OMIM:223350 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxia... |
OMIM:263520 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Patent ductus arteriosus, Subvalvular aortic stenosis |
ORPHA:1338 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Cleft upper lip, Conical tooth, Patent ductu... |
OMIM:106260 |
Neurocardiofaciodigital Syndrome |
|
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:619869 |
Distal Xq28 Microduplication Syndrome |
|
Predominantly lower limb lymphedema, Epistaxis, Patent ductus arteriosus, Upper eyelid edema, Pat... |
ORPHA:293939 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Anal stenosis, Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, ... |
OMIM:180500 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arachnodactyly, Eosinophilic infiltration of the esophagus, Arterial tortu... |
OMIM:609192 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... |
ORPHA:36238 |
Iniencephaly |
|
Omphalocele, Rocker bottom foot, Polyhydramnios, Congenital diaphragmatic hernia, Orofacial cleft... |
ORPHA:63259 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Myocarditis, Splenomegal... |
ORPHA:829 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, High palate,... |
OMIM:251750 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... |
OMIM:192445 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Patent ductus arteriosus, Esopha... |
OMIM:614576 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Inguinal hernia, Submucous cleft hard palate, Unilateral cleft lip, Supernumerary ribs, Unilatera... |
OMIM:619122 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyl... |
OMIM:615503 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Abnormal shoulder morp... |
OMIM:274000 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Cleft upper lip, Rectoureth... |
OMIM:300000 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hyp... |
OMIM:617506 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Pedal edema, Cardiorespiratory arrest, Cough... |
ORPHA:188 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Exagge... |
ORPHA:464738 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Congestive heart failure, Polyhydramnios |
ORPHA:500533 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Brachydactyly, Ventricular septal defect, Dextrocardia, Absent thumb, Car... |
ORPHA:96097 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Cleft soft palate, Nonimmune hydrops fetalis, A... |
ORPHA:124 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect, Triphalangeal thumb |
OMIM:615550 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Right aortic arch, Dextrocardia |
OMIM:617577 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Polyhydramnios |
ORPHA:466926 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Hyperextensibility of the finger joints, Inguinal hernia, Cigarette-paper scars, Irregularly spac... |
OMIM:130000 |
Gm1 Gangliosidosis |
|
Coarse metaphyseal trabecularization, Inguinal hernia, Ventricular septal defect, Camptodactyly o... |
ORPHA:354 |
Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Polyhydramnios, Patent ductus arteriosus, Cleft palate, Narrow ... |
ORPHA:1790 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Hypoplasia of first ribs, Foot ... |
OMIM:154400 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Polyhydramnios, Down... |
OMIM:617360 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect |
OMIM:613730 |
Hardikar Syndrome |
|
Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac disease, Patent duct... |
OMIM:301068 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Cleft pal... |
ORPHA:254346 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Congenital diaphragmatic hernia, Non-midline cleft lip, Cleft palate, A... |
ORPHA:1915 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Patent... |
OMIM:613309 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital hip dislocation, Edema of the dorsum of feet, Polyhydramni... |
OMIM:601803 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jugular vein morp... |
ORPHA:1677 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Cleft palate, Ab... |
ORPHA:453499 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Camptodactyly of finger, Coxa vara, Mitral valve prolapse, Short femoral neck, Camp... |
ORPHA:2848 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
High palate, Patent ductus arteriosus, Ventricular septal defect, Cleft palate |
ORPHA:52055 |
Scorpion Envenomation |
|
Miosis, Mydriasis |
ORPHA:466677 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Femoral hernia, Protruding tongue, Conotruncal defect, Coarctation of aorta, Dow... |
ORPHA:96147 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Camptodactyly of fi... |
ORPHA:261236 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Proximal placement of thumb, Esophageal atresia, Deep philtrum, Preaxi... |
OMIM:610536 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Inguinal hernia, Secundum atrial septal defect, Contracture of the proximal interphalangeal joint... |
OMIM:618109 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Patent ductus... |
OMIM:130720 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Patent ductus arteriosus, Mitral valve prolapse, High pal... |
OMIM:104350 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Robinow Syndrome |
|
Dental crowding, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Syndactyly, Pers... |
ORPHA:97360 |
Cloacal Exstrophy |
|
Omphalocele, Intestinal malrotation, Abnormal tibia morphology, Hip dislocation, Absent foot, Abn... |
ORPHA:93929 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Emphysema |
ORPHA:357074 |
Short Stature-Micrognathia Syndrome |
|
Cataract, Ventricular septal defect, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 to... |
OMIM:617164 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... |
OMIM:610205 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Inguinal hernia, Ventricular septal defect, Tarsal synostosis, Elbow contracture... |
OMIM:178110 |
Central Core Disease |
|
Multiple joint contractures, Congenital hip dislocation, Mitral valve prolapse |
ORPHA:597 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Syndactyly, Ventricular septal defect, Intestinal malrotation, Overlappin... |
OMIM:605039 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Wolff-Parkinson-White syndrome |
ORPHA:261295 |
Ogden Syndrome |
|
Everted upper lip vermilion, Inguinal hernia, Ventricular septal defect, Broad hallux, High, narr... |
ORPHA:276432 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Bicuspid aortic valve, Patent ductus arteriosus, Thick lower lip vermilion, Narrow palate, Mitral... |
ORPHA:555877 |
Hamamy Syndrome |
|
Long toe, Thin upper lip vermilion, Syndactyly, Inguinal hernia, Down-sloping shoulders, Tapered ... |
OMIM:611174 |
Hydrolethalus |
|
Polyhydramnios, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft palate, Gingival c... |
ORPHA:2189 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Oligohydramnios, Dehydration, Hip dysplasia, Atrial septal defect, Art... |
OMIM:208085 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:617744 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Prominent fingertip pads, Arachnodactyly, Mitral valve prolapse, Wide mouth, Thick vermilion bord... |
OMIM:300986 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Intestinal malrotation, Limited interphalangeal movement, Ab... |
OMIM:147750 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ventricular septal defect, Rocker bottom foot, Metatarsus adductus, High, narrow pala... |
OMIM:272950 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Vasculitis, Cheilit... |
ORPHA:2331 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne... |
ORPHA:1302 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Lymphedema, Brachydactyly, Pulmonary lymphangiectasia, Mitral valve prolapse |
OMIM:247410 |
Giant Cell Arteritis |
|
Pericarditis, Vasculitis, Aortic dissection, Glossitis, Abdominal aortic aneurysm, Double outlet ... |
ORPHA:397 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Thin vermilion border, Short ph... |
ORPHA:3255 |
Mosaic Trisomy 16 |
|
Syndactyly, Single coronary artery origin, Ventricular septal defect, Short thumb, Clinodactyly, ... |
ORPHA:1708 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Abnormal... |
ORPHA:1782 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Congenital ... |
OMIM:618846 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valg... |
OMIM:620073 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Abnormality of the dentition, Cleft palate, Mitral valve prolapse,... |
ORPHA:90354 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Inguinal hernia, Redundant umbilical skin, Cleft soft palate, Polyhydramnios, Patent ductus arter... |
OMIM:614557 |
Meester-Loeys Syndrome |
|
Aortic dissection, Arachnodactyly, Gingival overgrowth, Mitral valve prolapse, Ascending tubular ... |
OMIM:300989 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Tapered finger, Arteria lusoria, 2-3 toe syndactyly, Anteriorly placed anus, Ani... |
OMIM:618653 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Polyhydramnios, Supernumerary t... |
OMIM:617088 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Gingival overgrowth, Dehydrati... |
ORPHA:96191 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Craniotubular Dysplasia, Ikegawa Type |
|
Mydriasis |
OMIM:619727 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, High ... |
OMIM:609942 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Sub... |
ORPHA:3047 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620327 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Pancreatic ... |
ORPHA:1655 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
W Syndrome |
|
Hypoplasia of the ulna, Broad uvula, Radial bowing, Metatarsus adductus, Submucous cleft hard pal... |
ORPHA:2804 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:452 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis |
OMIM:619708 |
Koolen-De Vries Syndrome |
|
Prominent fingertip pads, Ventricular septal defect, Bicuspid aortic valve, Cleft upper lip, Pylo... |
OMIM:610443 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Downturned... |
ORPHA:1780 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Arachnodactyly, Dental crowding, Mitral valve prolapse, High palate, Stroke |
OMIM:236200 |
Cohen Syndrome |
|
Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abno... |
ORPHA:193 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Aganglionic megacolon, Postaxial hand polydactyly, Hip dislocation,... |
OMIM:308205 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Tibial bowing, High palate, Short philtrum, Clinodactyly of the 5th finger, Micr... |
ORPHA:251028 |
Holoprosencephaly 7 |
|
Omphalocele, Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Cleft palate, Unilate... |
OMIM:610828 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, Mitral valve prolapse, High palate, Ena... |
OMIM:618874 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cutaneous finger syndactyly, Cleft soft palate |
OMIM:606851 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:352490 |
Meier-Gorlin Syndrome 6 |
|
Tracheobronchomalacia, Cryptorchidism, Emphysema, Recurrent respiratory infections |
OMIM:616835 |
Birk-Barel Syndrome |
|
Reduced subcutaneous adipose tissue, Tented upper lip vermilion, High palate, Short philtrum, Sub... |
OMIM:612292 |
Geleophysic Dysplasia 2 |
|
Short palm, Thin upper lip vermilion, Tricuspid stenosis, Mitral valve prolapse, Cone-shaped epip... |
OMIM:614185 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Inguinal hernia, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hig... |
OMIM:618106 |
Distal Triplication 15Q |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology |
ORPHA:314588 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Dilatation of the ventricular cavity, Pneumothorax, Recurrent pneumonia, Respiratory insufficienc... |
ORPHA:90349 |
Optic Atrophy 8 |
|
Mitral valve prolapse |
OMIM:616648 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Accessory oral frenulum, Aplastic clavicle, Postaxial polydactyly, Polyhydra... |
OMIM:616546 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Omphalocele, Postaxial hand polydactyly, Hypoplasia of the small intestine, As... |
OMIM:200995 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morphology, Dysp... |
ORPHA:67 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae, 3-4 finger syndactyly |
OMIM:615877 |
Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Polyhydramnios |
ORPHA:1860 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Pyloric stenosis, Rib fusion, Cleft palate, Abnorm... |
ORPHA:261197 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Distal Deletion 3P |
|
Inguinal hernia, Postaxial hand polydactyly, Cleft palate, Downturned corners of mouth, Thin verm... |
ORPHA:1620 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Polyhydramnios, Ventricular septal defect, Postaxial polydactyly |
OMIM:219730 |
King-Denborough Syndrome |
|
High palate, Deep philtrum, Ventricular septal defect |
OMIM:619542 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Horizontal ribs, Complete atrioventric... |
OMIM:617925 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Mitral valve prolapse |
OMIM:225310 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... |
ORPHA:3138 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Pulmonary artery hypo... |
OMIM:245150 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Cohen Syndrome |
|
Short metacarpal, Tapered finger, High, narrow palate, Short metatarsal, Mitral valve prolapse, G... |
OMIM:216550 |
Camurati-Engelmann Disease, Type 2 |
|
Knee flexion contracture, Hip contracture, Mitral valve prolapse |
OMIM:606631 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Polyhydramnios, Dental malocclusion, Wide mouth, Thick vermilion borde... |
OMIM:610733 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Tapered finger, Dental malocclusion, Shortening of all distal phalange... |
OMIM:616202 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro... |
OMIM:259600 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, High, narrow palate, Downturned cor... |
OMIM:122470 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... |
ORPHA:26793 |
Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Short sternum, Bifid tong... |
OMIM:258850 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Arachnodactyly, Lip... |
OMIM:616914 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Hiatus hernia, Increased connective tissue, Mitral valve prolapse, Atr... |
OMIM:606408 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Polyhydramnios, Patent ductus arteriosus, Hip dislocation, High palate, Atrial septal defect, Joi... |
OMIM:618005 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Noonan Syndrome 5 |
|
Polyhydramnios, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:611553 |
Holoprosencephaly 1 |
|
Single ventricle |
OMIM:236100 |
Multiple Synostoses Syndrome 1 |
|
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... |
OMIM:186500 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Inguinal hernia, Arachnodactyly, Metatarsus adductus, Metaphyseal widening, Dental malocclusion, ... |
OMIM:182212 |
Schilbach-Rott Syndrome |
|
2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly, Narro... |
OMIM:164220 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Polyhydramnios, Cardiomegaly, Congenital diaphragm... |
ORPHA:116 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Polyhydramnios |
ORPHA:96190 |
Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology, Split hand, Hammertoe |
ORPHA:90658 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct... |
ORPHA:141127 |
Megalencephaly |
|
Atrial septal defect |
ORPHA:2477 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Stroke, Bacterial endocardit... |
ORPHA:1054 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Polyhydramnios, Delayed epiphyseal ossification, Pat... |
OMIM:114290 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Cryptorchidism, Emphysema |
OMIM:224690 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Polyhydramnios |
OMIM:611087 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a... |
ORPHA:1600 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
Brittle Cornea Syndrome 1 |
|
Atypical scarring of skin, Congenital hip dislocation, Dentinogenesis imperfecta, Mitral valve pr... |
OMIM:229200 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Orofacial ... |
ORPHA:268249 |
Hunter-Macdonald Syndrome |
|
Thin upper lip vermilion, Epiphyseal dysplasia, Inguinal hernia, Bicuspid aortic valve, Metatarsu... |
OMIM:611962 |
Pallister-Hall Syndrome |
|
Anteriorly placed anus, Neonatal death, Syndactyly, Mesoaxial foot polydactyly, Cleft upper lip, ... |
OMIM:146510 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe syndactyly, Wide mo... |
ORPHA:217346 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega... |
OMIM:614749 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Swollen lip, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Fing... |
OMIM:256520 |
Sotos Syndrome |
|
Ventricular septal defect, High, narrow palate, Muscular ventricular septal defect, Long metacarp... |
OMIM:117550 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Hip dysplasia, Astigmatism, Chorioretinal c... |
ORPHA:494344 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology, C... |
ORPHA:268261 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... |
OMIM:619227 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Peters anomaly, Cleft palate, Buphthalmos, Macroglossia, Persistent pupillary membrane |
OMIM:613150 |
Myhre Syndrome |
|
Short philtrum, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Pericardial effusion, C... |
OMIM:139210 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elbow contracture, Patent ductus arteriosus, 2-3 toe syndactyly, Knee flexion contracture, Irregu... |
OMIM:618162 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Atrial septal defect, Microdontia, Bifid... |
OMIM:613458 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie... |
OMIM:620025 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Patent ductus arteriosus, Leukocoria, Arterial stenosis, Arter... |
ORPHA:1556 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Rieger anomaly, Ventricular septal defect, Pseudoepiphyses of the... |
OMIM:194190 |
Desmosterolosis |
|
Intestinal malrotation, Metatarsus adductus, Patent ductus arteriosus, Submucous cleft hard palat... |
ORPHA:35107 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Ventricular septal defect, Rocker bottom foot, Camptodactyly of finger, Cardiomega... |
OMIM:602782 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Dahlberg-Borer-Newcomer Syndrome |
|
Lymphedema, Brachydactyly, Short distal phalanx of finger, Mitral valve prolapse |
ORPHA:1563 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Polyhydramnios, Cardiomegaly, High, narrow palate, A... |
ORPHA:3472 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Adducted thumb, Short philtrum, Smooth philtrum, Oligohydramnios |
ORPHA:293725 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Cerebral berry aneurysm, Mitral valve prolapse |
OMIM:173900 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Tapered finger, High, narro... |
OMIM:619312 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Inguinal hernia, Widened atrophic scar, High, narrow palate, Hip dislocation, Elbow flexion contr... |
ORPHA:1900 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Pulmonary artery hypo... |
OMIM:616777 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Polyhydramnios, Congenital diaphragmatic hernia, Patent ductus arteriosus, Cleft p... |
OMIM:614080 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Cleft palate, Intra... |
OMIM:614424 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistul... |
OMIM:620024 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Bicuspid aortic valve, Pneumothorax, Mitral annular calcification, M... |
OMIM:154700 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Anal stenosis, Inguinal hernia, Cystocele, Abnormality of the abdominal wall, Abnorm... |
ORPHA:322 |
Fragile X Syndrome |
|
Metacarpophalangeal joint hyperextensibility, Mitral valve prolapse |
OMIM:300624 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi... |
ORPHA:2438 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormality of the fascia, Abno... |
ORPHA:85438 |
Oculodentodigital Dysplasia |
|
Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu... |
ORPHA:2710 |
Noonan Syndrome 14 |
|
Polyhydramnios, High, narrow palate, Clinodactyly, Mitral valve prolapse, Wide mouth, Thick vermi... |
OMIM:619745 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short palm, Atrial... |
OMIM:312870 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arte... |
OMIM:100300 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Abnormality of the dentition, Open bite,... |
OMIM:115150 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... |
OMIM:619167 |
Cap Myopathy |
|
Aortic root aneurysm, High palate, Mitral valve prolapse |
ORPHA:171881 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Patent foramen ovale |
ORPHA:89844 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... |
OMIM:603903 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... |
OMIM:618775 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Short ... |
OMIM:300244 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
High palate, Patent ductus arteriosus, Ventricular septal defect, Bifid uvula |
OMIM:300472 |
Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Tented upper lip vermilion, Patent... |
OMIM:614961 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Overlapping toe, Deep philt... |
OMIM:613884 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Ventricular septal defect, Dental crowding, High, narrow palate, High palate, Um... |
ORPHA:2789 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Proximal placement of thumb, Dilated cardiomyopathy, Wide mouth, Hip d... |
ORPHA:261250 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Proximal placement of thumb, Short hallux, Abnormality of t... |
ORPHA:90650 |
Zttk Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Patent ductus arteriosus, Submucous clef... |
OMIM:617140 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... |
ORPHA:3078 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Ventricular septal defect, Foot joint contracture, Tapered finger, Dental malocc... |
ORPHA:444072 |
Thauvin-Robinet-Faivre Syndrome |
|
Inguinal hernia, Ventricular septal defect, Bowing of the legs, Pedal edema, Mitral valve prolaps... |
OMIM:617107 |
Turnpenny-Fry Syndrome |
|
Dental crowding, Polyhydramnios, Prominent interphalangeal joints, Downturned corners of mouth, H... |
OMIM:618371 |
8P11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, High palate, Supernumerary ribs, Atrial septal d... |
ORPHA:251066 |
Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Rocker bottom foot, Polyhydramnios, Patent ductus arteriosus... |
OMIM:275210 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal parotid gland mo... |
OMIM:154500 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Anal stenosis, Cataract, Aganglionic megacolon, Ventricular septal defect, Hypoplasia... |
OMIM:607323 |
Spondyloocular Syndrome |
|
Long toe, Duodenal ulcer, Arachnodactyly, Femur fracture, Abnormality of the dentition, Overlappi... |
OMIM:605822 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, Dental malocclu... |
OMIM:606232 |
Zellweger Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Ventricular septal defect, Corneal opacity, Malabsor... |
ORPHA:912 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Macrodontia, Proximal placement of thumb, Protruding tongue, Diastema,... |
OMIM:212066 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Holoprosencephaly 2 |
|
Single ventricle |
OMIM:157170 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Geleophysic Dysplasia 1 |
|
Short palm, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Hypoplasia of the capital fe... |
OMIM:231050 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Inguinal hernia, Ventricular septal defect, Metaphyseal chondrod... |
ORPHA:166035 |
Marfan Syndrome |
|
Mitral valve calcification, Spontaneous pneumothorax, Emphysema, Mitral valve prolapse, Pulmonary... |
ORPHA:558 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces |
OMIM:617190 |
Limb Body Wall Complex |
|
Ventral hernia, Ventricular septal defect, Broad hallux, Aplasia/hypoplasia involving bones of th... |
ORPHA:2369 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Precocious atherosclerosis, Mitral valve prolapse |
ORPHA:230839 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad distal phalanx of the thumb, ... |
OMIM:101200 |
Spondylo-Ocular Syndrome |
|
Thin vermilion border, Ventricular septal defect, Long philtrum |
ORPHA:85194 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Abnormal morphology of ulna, Lymphedema, Submucous cleft hard pa... |
ORPHA:1340 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Tented upper lip vermilion, Ventricular septal defect, Bicuspid aortic... |
ORPHA:261494 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity |
ORPHA:1764 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Polyhydramnios, Congenital diaphragmatic hernia, Atrial septal defec... |
ORPHA:818 |
Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:610883 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Diastasis recti, Cardiomegaly, Macroglossia, Cardiomyopathy |
OMIM:130650 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Arachnodactyly, Camptodactyly of finger, Situs inversus ... |
ORPHA:2461 |
Tarp Syndrome |
|
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Pierre-Robin sequence, Alveolar rid... |
ORPHA:2886 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Ventricular septal defect, Abnormal ossification involving the fe... |
ORPHA:79345 |
Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Cataract, Cardiac myxoma, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly,... |
OMIM:181270 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Short palm, Omphalocele, Cleft upper lip, Esophageal atresia, Abnormal pelvis bone ossification, ... |
ORPHA:93271 |
Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Diastasis recti, Submucous cleft hard palate, Cardiac rhabdomyoma, High palate, N... |
OMIM:618971 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus |
ORPHA:261279 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Atrial sep... |
OMIM:600268 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Patent ductus arteriosus, Ab... |
ORPHA:79076 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Widely spaced teeth, Micro... |
OMIM:143095 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... |
ORPHA:93357 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Macroglossia, High palate, ... |
OMIM:613457 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Chops Syndrome |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Anomalous pulmonary ven... |
OMIM:616368 |
Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect, Dental crowding, Overlapping toe, Polyhydramnios, Short foot, Patent d... |
OMIM:618268 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi... |
OMIM:301044 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Submucous c... |
ORPHA:178303 |
Fragile X Syndrome |
|
Ascending tubular aorta aneurysm, Mitral valve prolapse |
ORPHA:908 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Alg3-Cdg |
|
Cardiomyopathy, Coarctation of the descending aortic arch |
ORPHA:79321 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Absent thumb, Esophageal atresia, Patent ductus arteriosus, Tracheoeso... |
OMIM:300514 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm, Oligohydramnios |
OMIM:614437 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... |
OMIM:250220 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Palpebral edema |
ORPHA:397709 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Anteriorly p... |
ORPHA:3338 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Atrial septal defect, Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Neon... |
OMIM:208540 |
Hajdu-Cheney Syndrome |
|
Downturned corners of mouth, Periodontitis, Hernia, Partial absence of toe, Open bite, Short toe,... |
ORPHA:955 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Toe syndactyly, Camptodactyly of finger, Wide mouth, Thin vermilion border, Microdon... |
ORPHA:920 |
Kleefstra Syndrome 1 |
|
Natal tooth, Protruding tongue, Persistence of primary teeth, Conotruncal defect, Macroglossia, E... |
OMIM:610253 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Bronchiectasis, Bronchiolitis, Emphysema, Peripheral pulmon... |
ORPHA:90348 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Submucous cleft hard palate, Thick vermilion border, Cleft palate |
ORPHA:250999 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Anal stenosis, Ventricular septal defect, Bowing of the legs, Aplasia/Hypo... |
OMIM:617063 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Protruding tongue, Diastema, Tapered finger, Clinodactyly, Thick lower... |
OMIM:301040 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Clinodactyly of the 5t... |
OMIM:607872 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short distal phalanx of finger |
OMIM:609166 |
Osteogenesis Imperfecta, Type I |
|
Femoral bowing, Mitral valve prolapse, Hip dysplasia, Finger joint hypermobility, Dentinogenesis ... |
OMIM:166200 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Cataract, Ventricular septal defect, Aganglionic megacolon, Pulmonary ... |
OMIM:235730 |
Oculocerebrorenal Syndrome Of Lowe |
|
Delayed eruption of teeth, Cataract, Corneal opacity, Chorioretinal dysplasia, Malabsorption, Abn... |
ORPHA:534 |
Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Polyhydramnios |
ORPHA:363528 |
Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Omphalocele |
OMIM:248450 |
Shprintzen-Goldberg Syndrome |
|
Bowing of the long bones, Inguinal hernia, Arachnodactyly, Camptodactyly of finger, Missing ribs,... |
ORPHA:2462 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Metaphyseal widening, High palate, Microdontia, Arachnodactyly, Slen... |
ORPHA:536467 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Dental crowding, Overlapping to... |
OMIM:617402 |
Plague |
|
Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
Fraser Syndrome |
|
Omphalocele, Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Cleft upper lip, ... |
ORPHA:2052 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the rad... |
OMIM:609053 |
Congenital Fibrosis Of Extraocular Muscles |
|
Anisocoria, Abnormal pupil shape, Hand oligodactyly, Cataract |
ORPHA:45358 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, Aplastic c... |
ORPHA:2658 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Abnormal cerebral vascular morphology, Arterial stenosis, Mitral... |
ORPHA:758 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Arthrogryposis multiplex congenita, Hip dysplasia, Ventricular septal defect, Right ventricular h... |
OMIM:613404 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect |
OMIM:616901 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Aneurysm-Osteoarthritis Syndrome |
|
High palate, Abdominal aortic aneurysm, Bifid uvula, Arachnodactyly, Arterial tortuosity, Patent ... |
ORPHA:284984 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect |
OMIM:617808 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale |
OMIM:615156 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Tented upper lip vermilion, Ventricular septal defect, Diastasis rec... |
ORPHA:488632 |
Acro-Renal-Ocular Syndrome |
|
Microcornea, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, Hypoplasia of the ulna, ... |
ORPHA:959 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria... |
ORPHA:2637 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Den... |
OMIM:102500 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ... |
ORPHA:352665 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Palpebral ... |
ORPHA:261337 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Patent ductus arteriosus after birth at term, Abnor... |
ORPHA:500150 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Tracheoesophageal fistu... |
OMIM:301030 |
16P12.1P12.3 Triplication Syndrome |
|
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology |
ORPHA:485405 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Atrial septal def... |
OMIM:613610 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect |
ORPHA:521308 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Arterial rupture |
OMIM:619115 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ... |
ORPHA:69085 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Edema |
OMIM:607143 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Patent ductus art... |
ORPHA:1465 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Anter... |
OMIM:309801 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Down-sloping shoulders, Cleft lip, Clinodactyly, Dysplastic tricuspid ... |
ORPHA:1724 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Ventricular septal defect, Intestinal malro... |
OMIM:244450 |
Bent Bone Dysplasia Syndrome 2 |
|
Bowed humerus, Ulnar bowing, Hypoplastic acetabulae, Femoral bowing, Thin ribs, Short sternum, Sh... |
OMIM:620076 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Mitral valve prolapse, White oral mucosal macule, Stroke, Restrictiv... |
OMIM:264800 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Sandal gap, Carious te... |
OMIM:619229 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Eclabion, Thin upper lip vermilion, Prominent fingertip pads, Reduced subcutaneous adipose tissue... |
OMIM:619950 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnor... |
ORPHA:500095 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Polyhydramnios, High, narrow palate, Flexion contracture, Aortic isthmus hypopla... |
OMIM:180849 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Anteriorly placed anus, Short uppe... |
OMIM:200110 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Subvalvular aortic stenosis, Coarctation of aorta, Clinodactyly of the... |
OMIM:614114 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, L... |
OMIM:300855 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Posterior rib gap, Cleft palate, Glossoptosis, Clinodactyly of the 5th... |
ORPHA:1393 |
Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria, Tongue atrophy, Hammertoe, Hip dysplasia |
ORPHA:99949 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Cleft hard palate, Abnormal pupil morphology, Calcaneovalgus deformity, Mi... |
ORPHA:261552 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subcutaneous lipoma, Lipoma, Subvalvular aortic stenosis, Atrial septa... |
OMIM:613001 |
Oeis Complex |
|
11 pairs of ribs, Omphalocele, Congenital hip dislocation, Intestinal malrotation, Anteriorly pla... |
OMIM:258040 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Orofacial cleft... |
ORPHA:2753 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Restrictive Dermopathy |
|
Natal tooth, Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Polyhydramnios, ... |
ORPHA:1662 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale |
OMIM:618821 |
Larsen Syndrome |
|
Short metacarpal, Ventricular septal defect, Spatulate thumbs, Cleft upper lip, Accessory carpal ... |
OMIM:150250 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Patent ductus arteriosus, Polyhydramnios |
OMIM:603467 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Pierre-Robin sequence, Cleft pal... |
OMIM:614921 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Toe syndactyly, Ventricular septal defect, Polyhydramn... |
ORPHA:459070 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... |
OMIM:618748 |
Native American Myopathy |
|
Cleft palate, Downturned corners of mouth, Congenital contracture, High palate, Camptodactyly, Su... |
ORPHA:168572 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Polyhydramnios, Narrow greater sciatic notch, Short phalanx of finger, Broad metacarpals, Short m... |
ORPHA:508533 |
Jacobsen Syndrome |
|
Long hallux, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, Short toe, Aortic ... |
ORPHA:2308 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, Short philtrum,... |
OMIM:135900 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Mucopolysaccharidosis-Plus Syndrome |
|
Atrial septal defect, Congestive heart failure, Hypertrophic cardiomyopathy, Patent ductus arteri... |
OMIM:617303 |
Zaki Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:619648 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout... |
OMIM:619680 |
Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:251290 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Ventricular septal defect, Metaphyseal ch... |
OMIM:250410 |
Meier-Gorlin Syndrome 5 |
|
Irregular femoral epiphysis, Submucous cleft hard palate, Patellar aplasia, Hypoplasia of the cap... |
OMIM:613805 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Dental crowding, Abnormality of t... |
ORPHA:769 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Aortic root aneurysm, Submucous cleft hard palate, Flexion contracture |
OMIM:618891 |
Revesz Syndrome |
|
Leukocoria, Megalocornea, Oral leukoplakia |
OMIM:268130 |
Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Clinodactyly... |
OMIM:136140 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Lymphedema, High, narrow palate, Clinodactyly, Patent ductus arteriosu... |
OMIM:163950 |
Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... |
ORPHA:79329 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Unilateral cleft palate, Abnormality of the dentition, Carious ... |
ORPHA:1299 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Absent thumb, S... |
OMIM:105650 |
7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus after birth at term |
ORPHA:251061 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,... |
OMIM:157800 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Atrial septal defect, Patent ductus arteriosus, Dextrocardia |
OMIM:277380 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Ventricular septal defect |
ORPHA:79243 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Submucous cleft soft palate, Patent ductus arteriosus, Cleft soft palate |
ORPHA:2282 |
Syndromic Diarrhea |
|
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:84064 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:618282 |
Amish Lethal Microcephaly |
|
Cleft soft palate |
ORPHA:99742 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal... |
ORPHA:100050 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, High, narrow... |
ORPHA:466791 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Thin upper lip vermilion, Arachnodactyly, Intestinal malrotation, Scarring, Hiatus hernia, Diasta... |
OMIM:601776 |
X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Inguinal hernia, Hernia |
ORPHA:75497 |
Mogs-Cdg |
|
Pulmonary edema, Polyhydramnios, Edema, Cardiomegaly, Atrial septal defect, Left ventricular hype... |
ORPHA:79330 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Abnorma... |
ORPHA:505248 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Myopathy With Extrapyramidal Signs |
|
Tented upper lip vermilion, Ventricular septal defect |
OMIM:615673 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Carpenter Syndrome 2 |
|
High, narrow palate, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Cutaneous finger ... |
OMIM:614976 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Ventricular septal defect, Polyhydramnios, Avascular necrosis of the capital fem... |
OMIM:222470 |
Joubert Syndrome 3 |
|
Atrial septal defect |
OMIM:608629 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Downturned corners of mouth, Thin upper lip vermilion, Omphalocele, Anal atresia |
ORPHA:3164 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Ventricular septal defect, Con... |
ORPHA:96121 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Increased femoral anteversion, ... |
OMIM:609460 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
Knobloch Syndrome 1 |
|
Band keratopathy, Pyloric stenosis, Patent ductus arteriosus, Chorioretinal atrophy, Developmenta... |
OMIM:267750 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Ventricular septal defect, Broad hallux, Hamartoma of tongue, Cleft lip, Supernumera... |
OMIM:615948 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the a... |
ORPHA:500 |
Trichinellosis |
|
Central retinal artery occlusion, Anisocoria, Conjunctivitis, Abnormal uvea morphology, Conjuncti... |
ORPHA:863 |
Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:605130 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Wrinkly Skin Syndrome |
|
Cryptorchidism, Emphysema, Atrial septal dilatation, Recurrent sinopulmonary infections |
ORPHA:2834 |
Phace Syndrome |
|
Cataract, Sclerocornea, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho... |
ORPHA:42775 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Mitral valve prolapse |
ORPHA:98 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Tapere... |
OMIM:303600 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Femoral bowing, Knee ... |
OMIM:210710 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Jejunal atresia, Ileal atresia, Long philtrum |
OMIM:618820 |
Pallister-Hall Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Mesoaxial polydactyly, Radial b... |
ORPHA:672 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Narrow philtrum, P... |
OMIM:619268 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Increased fibular diameter, Pulmonary artery stenosis, ... |
OMIM:258315 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Inguinal hernia, Ventricular septal defect, Polyhydramnios, High palate, Pulmonic stenosis, Atria... |
OMIM:607721 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect |
ORPHA:896 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Hip contracture, Broad distal phalanx of the toes, Deep philtrum, Submu... |
OMIM:619194 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Polyhydramnios, Situs inversus totalis |
OMIM:202650 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Posterior embryotoxon, Cataract, Ventricular septal defect, Band keratopa... |
OMIM:118450 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, High, narrow palate, Submucous cleft hard palate, Abn... |
ORPHA:2554 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Flexion contracture... |
OMIM:619306 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformation, Pulmonary arteriovenous... |
OMIM:175050 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Abnormal tibia morphology, Flexion contracture, Abnormal femur morph... |
ORPHA:666 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Transposition of the great arte... |
OMIM:253800 |
Classical Ehlers-Danlos Syndrome |
|
Incisional hernia, Rectal prolapse, Shoulder dislocation, Dislocated radial head, Hiatus hernia, ... |
ORPHA:287 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Broad hallux, Accessory oral frenulum, Hamartoma of tongue, Deviation ... |
ORPHA:434179 |
Fanconi Anemia, Complementation Group N |
|
Short thumb, Ventricular septal defect |
OMIM:610832 |
Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Situs inversus totalis, Cleft p... |
OMIM:309500 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Atrial septal defect, Broad hallux, Supernumerary tooth, ... |
ORPHA:353281 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuo... |
OMIM:175780 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Ventricular septal defect, Rocker bottom foot, Protruding tongue, Brushfield spots, Hig... |
OMIM:214100 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve |
OMIM:619720 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:619383 |
Sotos Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Small cell lung carcinoma, D... |
ORPHA:821 |
Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect |
OMIM:611926 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, Polyhydramnios, High palate, Atrial septal defect, Patent... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, Polyhydramnios, High palate, Atrial septal defect, Patent... |
ORPHA:353277 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Xerostomia |
ORPHA:1051 |
Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Downturned corners of mouth, Short philtrum, Atrial septal defect,... |
OMIM:616268 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... |
OMIM:615873 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet... |
ORPHA:2250 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Genu valgum, Wide mouth, Duodenal... |
OMIM:617798 |
White-Sutton Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:616364 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Heart murmur |
ORPHA:2728 |
Vater/Vacterl Association |
|
Syndactyly, Ventricular septal defect, Absent radius, Esophageal atresia, Short thumb, Hypoplasia... |
OMIM:192350 |
Microphthalmia, Syndromic 3 |
|
Cataract, Ventricular septal defect, Sclerocornea, Missing ribs, Esophageal atresia, Patent ductu... |
OMIM:206900 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent ductus arteriosus, Increased nuchal translucency, Aortic root aneurysm, Atrial septal defe... |
ORPHA:280633 |
Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Gastrointestinal angiodysplasia, Mitral valve prolapse |
OMIM:193400 |
Superficial Siderosis |
|
Anisocoria, Abnormal vertebral artery morphology, Arteriovenous malformation, Subarachnoid hemorr... |
ORPHA:247245 |
Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:2152 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Overlapping toe, Hypoplastic philtrum, Hiatus ... |
OMIM:616682 |
Nephronophthisis 11 |
|
Anisocoria |
OMIM:613550 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Aganglionic megacolon, Abnormal de... |
ORPHA:2273 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Polyhydramnios, Submucous cleft hard palate, Flexion contracture, Cl... |
ORPHA:2671 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Cataract, Toe syndactyly, Overlapping toe, Proximal placement of thumb, Arachn... |
OMIM:613406 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Thin vermilion border, Anal atresia |
OMIM:182210 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Proximal placement of thumb, Polyhydramnios, Short metatarsal, Anteriorly... |
OMIM:261540 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Anal stenosis, Toe syndactyly, Sandal... |
ORPHA:235 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Ventricular septal defect, Cleft lip, Patent ductus arteriosus, Furrowed tongue, Hip ... |
OMIM:616975 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Esophageal stenosis |
OMIM:615510 |
Kabuki Syndrome 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:300867 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:261537 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Congenital hip dislocation, Abnormal heart valve morphology, Peripheral arteriovenou... |
ORPHA:286 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Ventricular septal defect, Ventricular septal hypertrophy, Small hand |
OMIM:614947 |
Al Kaissi Syndrome |
|
Atrial septal defect |
OMIM:617694 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Distal Deletion 10Q |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:96148 |
Sweeney-Cox Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios |
OMIM:617746 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Polyhydramnios, Increased nuchal translucency, Coarctation of aorta, Abnorm... |
ORPHA:1052 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis |
ORPHA:459061 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria |
OMIM:231550 |
Leopard Syndrome 1 |
|
Missing ribs, Complete atrioventricular canal defect, Cleft palate, Mitral valve prolapse, Pulmon... |
OMIM:151100 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Inguinal hernia, Carious teeth, Velopharyngeal insufficien... |
OMIM:223370 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Hypoplasia of teeth |
OMIM:234050 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... |
ORPHA:649 |
Renal Agenesis |
|
Ventricular septal defect, Anal atresia, Oligohydramnios |
ORPHA:411709 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia |
ORPHA:2257 |
Frontometaphyseal Dysplasia |
|
Metaphyseal widening, Short metatarsal, Oligodontia, Wrist flexion contracture, Short phalanx of ... |
ORPHA:1826 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Patent foramen ovale |
OMIM:614868 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Polyhydramnios, Tapered finger, Ankle flexion contracture, Short toe, ... |
ORPHA:464311 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Flexion contracture, Corneal scarring, High palate, Open mouth |
OMIM:614653 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Mitral valve prolapse |
ORPHA:309155 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:300968 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Retinoblastoma |
|
Leukocoria, Uveitis, Cleft palate, Hypopyon, Heterochromia iridis |
ORPHA:790 |
Jacobsen Syndrome |
|
Ventricular septal defect, Missing ribs, Pyloric stenosis, Microcornea, Clinodactyly of the 5th f... |
OMIM:147791 |
Alg12-Cdg |
|
Edema, Polyhydramnios, Muscular ventricular septal defect, Patent ductus arteriosus, Biventricula... |
ORPHA:79324 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612541 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly, 2-3 toe synda... |
OMIM:107480 |
Bdv Syndrome |
|
Atrial septal defect |
OMIM:619326 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Short metatarsal, Hydrops fetalis, Short philtrum, Hi... |
OMIM:216340 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, Re... |
ORPHA:904 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... |
ORPHA:209905 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cardiomyopathy, Mitral valve prolapse |
OMIM:258450 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Tapered finger, Short uvula, Submucous cleft hard palate... |
OMIM:619539 |
Wiedemann-Rautenstrauch Syndrome |
|
Congenital malformation of the left heart, Downturned corners of mouth, Short philtrum, Premature... |
ORPHA:3455 |
Retinoblastoma |
|
Leukocoria, Cleft palate |
OMIM:180200 |
Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Calcification of the aorta,... |
OMIM:231005 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Patent foramen ovale, Pulmonic stenosis |
OMIM:618914 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Ventricular septal defect, Arachnodactyly, Multiple joint contract... |
ORPHA:464306 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Small hand, Fibula... |
ORPHA:444077 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Palpebral edema, Metatarsus adductus, Cleft palate, Epiphyseal stippli... |
OMIM:614866 |
Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Pleural effusion, Anasarca, Thir... |
OMIM:619573 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Metatarsus adductus, Abnormality of the g... |
ORPHA:513456 |
Neurooculorenal Syndrome |
|
Dextrocardia, Intestinal malrotation, Short hallux, Short 1st metacarpal, Mitral valve prolapse, ... |
OMIM:620305 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal defect, Pho... |
OMIM:268300 |
Oligomeganephronia |
|
Secundum atrial septal defect, Hypertension, Pulmonary venous occlusion, Dehydration |
ORPHA:2260 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal tibia morphology, Abnormal heart morphology, Mitral valve pro... |
ORPHA:363700 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, High, narrow palate, Thick lower lip vermi... |
ORPHA:369950 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Atrial septal defect,... |
OMIM:270400 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Downturned corners of mouth, Widely... |
ORPHA:199 |
Monosomy 13Q34 |
|
Hematochezia, Common atrium, Epistaxis, Pulmonic stenosis |
ORPHA:96168 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Patent ductus arteriosus, Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic c... |
OMIM:610505 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Restrictive cardiomyopathy, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:369837 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Ventricular septal defect, Polyhydramnios, Pyloric steno... |
OMIM:218040 |
Degcags Syndrome |
|
Polyhydramnios, High palate, Atrial septal defect, Patent foramen ovale, Syndactyly, Hiatus herni... |
OMIM:619488 |
Stickler Syndrome |
|
Arachnodactyly, Abnormal dental enamel morphology, Protrusio acetabuli, Cleft upper lip, Open bit... |
ORPHA:828 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology |
ORPHA:1292 |
Diphallia |
|
Duplicated colon, Inguinal hernia, Rectoperineal fistula, Absent thumb, Abnormal heart morphology... |
ORPHA:227 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:619121 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Portal hypertension, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertens... |
OMIM:620005 |
Coffin-Siris Syndrome 12 |
|
Celiac disease, Short thumb, Velopharyngeal insufficiency, Submucous cleft hard palate, Hip sublu... |
OMIM:619325 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect |
OMIM:608688 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:618076 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Aplastic clavicle, Large iliac wing,... |
ORPHA:2636 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Hypertension |
OMIM:619758 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners o... |
OMIM:619321 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Cleft palate, Short finger, Broad finger, Umbilical hernia, Broad phal... |
ORPHA:1934 |
Fanconi Anemia |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, A... |
ORPHA:84 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Carious teeth, High, narrow palate, Absen... |
ORPHA:33364 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect |
OMIM:620194 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Atrial septal defect, Microdontia, C... |
OMIM:194050 |
Khan-Khan-Katsanis Syndrome |
|
Bilateral superior vena cava with no bridging vein, Tricuspid regurgitation, Patent foramen ovale... |
OMIM:618460 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricula... |
OMIM:606170 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... |
OMIM:300707 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus |
OMIM:300048 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Polyhydramnios |
OMIM:213980 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... |
OMIM:612289 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Atrial septal defect, Patent ductus arteriosus, Hydrops fetalis, Polyhydramnios |
OMIM:300868 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... |
ORPHA:576 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Atrial septal defect, Pulmonic stenosis, Oligohydramnios |
OMIM:257300 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Mitral regurgitation |
ORPHA:457395 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aortic root aneurysm, Mitral valve prolapse |
ORPHA:449291 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Ventricular septal defect, Short philtrum, Peripheral pulmonary artery stenosis |
OMIM:619575 |
Proximal Spinal Muscular Atrophy |
|
Atrial septal defect, Bradycardia |
ORPHA:70 |
Kabuki Syndrome 1 |
|
Prominent fingertip pads, Anal stenosis, Congenital hip dislocation, Ventricular septal defect, I... |
OMIM:147920 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Ascending tubular a... |
OMIM:617403 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Congestive heart failure, Perimembranous ventricular septal defect |
OMIM:608779 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Flexion contracture, Complet... |
OMIM:227645 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... |
OMIM:613355 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect |
ORPHA:457351 |
Prader-Willi Syndrome Due To Translocation |
|
Patent ductus arteriosus, Patent foramen ovale, Oligohydramnios, Abnormal heart morphology |
ORPHA:177907 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect |
OMIM:614207 |
Ctcf-Related Neurodevelopmental Disorder |
|
Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Atrial septal defect, Pulmo... |
ORPHA:363611 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormal heart valve morphology, Lymphedema, Ascending tubular aorta aneur... |
ORPHA:536471 |
Autosomal Dominant Polycystic Kidney Disease |
|
Dilatation of the cerebral artery, Aortic root aneurysm, Abnormal systemic arterial morphology, M... |
ORPHA:730 |
Liver Disease, Severe Congenital |
|
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... |
OMIM:619991 |
Penile Agenesis |
|
Ventricular septal defect, Cloacal abnormality, Rectal fistula, Tracheoesophageal fistula, Atrial... |
ORPHA:49 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Prominent fingertip pads, Anomaly of lower limb diaphyses, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Prominent fingertip pads, Anomaly of lower limb diaphyses, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363958 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Congestive heart failure, Renovascular hypertension, Caro... |
ORPHA:391487 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect |
OMIM:207410 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Ventricular septal defect, Metaphyseal widening, Tibial bowing, Absent an... |
OMIM:259770 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... |
ORPHA:438213 |
Frontometaphyseal Dysplasia 2 |
|
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:617137 |
Genitopatellar Syndrome |
|
Atrial septal defect |
ORPHA:85201 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:261323 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Ventricular septal defect, Tapered finger, Carious teeth, Short thumb, Patent ductus a... |
OMIM:619522 |
Atypical Werner Syndrome |
|
Premature arteriosclerosis, Prominent superficial veins, Lipoatrophy, Rocker bottom foot, Abnorma... |
ORPHA:79474 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Mitral regurgitation, Patent foramen ovale |
OMIM:225250 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Chylothorax, Atrial septal defect, Pleural effusion |
ORPHA:2526 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Toe clinodactyly, Ventricular septal defect, Sandal gap, Long fingers, ... |
OMIM:620330 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Atrial septal defect, Xerostomia |
ORPHA:398069 |
Vici Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Atrial septal defect, Left vent... |
OMIM:242840 |
Gabriele-De Vries Syndrome |
|
Patent foramen ovale, Aortopulmonary collateral arteries |
OMIM:617557 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Aortic regurgitation |
OMIM:620072 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Palpebral edema, High... |
OMIM:619475 |
Legius Syndrome |
|
Mitral valve prolapse, Diaphyseal dysplasia, Multiple lipomas, Polydactyly, Pulmonic stenosis, Cl... |
ORPHA:137605 |
Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Multiple joint contractures, Ventricular septal defect |
ORPHA:506 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Myocardi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Myocardi... |
ORPHA:99228 |
Monosomy X |
|
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Myocardi... |
ORPHA:99226 |
Turner Syndrome |
|
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Myocardi... |
ORPHA:881 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Inguinal hernia, Ventricular septal defect, Supernumerary tooth, Tetralogy of Fallot, Ankyloglossia |
OMIM:619525 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Cleft upper lip, Partial duplication of thumb phalanx, Patent ductus a... |
OMIM:164210 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
High palate, Ventricular septal defect |
OMIM:619418 |
Proboscis Lateralis |
|
Ventricular septal defect, Agenesis of canine, Patent ductus arteriosus, Orofacial cleft, High pa... |
ORPHA:141099 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Ventricular septal defect, Malabsorption, Situs inversus totalis, Vascular d... |
OMIM:243800 |
Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect |
ORPHA:1439 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Intestinal pseudo-obstruction, Mitral valve prolapse |
OMIM:607459 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitra... |
ORPHA:2556 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Polyhydramnios, Atrial septal defect, Pulmonary arterial hypertension, Patent foramen ovale, Righ... |
OMIM:620186 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Arrhythmia |
OMIM:164200 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Dilation of Virchow-Robin spaces |
OMIM:619512 |
Distal Deletion 12Q |
|
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Patent foramen ovale |
ORPHA:96149 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Atrial septal defect |
ORPHA:522077 |
Tetrasomy 9P |
|
Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Raynaud phenomenon, Abnormal ca... |
ORPHA:3310 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Epistaxis, Polyhydramnios, Patent ductus arteriosus, Patent foramen ovale, Oligohydramnios |
OMIM:619841 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect |
OMIM:619471 |
Congenital Disorder Of Glycosylation, Type Iim |
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Atrial septal defect, Hypertension, Oligohydramnios |
OMIM:300896 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Hypoplastic aortic arch |
ORPHA:457284 |
Wolf-Hirschhorn Syndrome |
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Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart valve morphology |
ORPHA:280 |
Gaucher Disease, Type Ii |
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Double aortic arch |
OMIM:230900 |
Townes-Brocks Syndrome |
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Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... |
ORPHA:857 |
Floating-Harbor Syndrome |
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Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... |
ORPHA:2044 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus |
ORPHA:480880 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Mitral valve calcification, Tricuspid regurgitation, Mitral regurgitation, Left ventricular hyper... |
OMIM:619127 |
Neurofibromatosis-Noonan Syndrome |
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Secundum atrial septal defect, Pulmonic stenosis |
OMIM:601321 |
Schinzel-Giedion Midface Retraction Syndrome |
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Atrial septal defect |
OMIM:269150 |
Pancreatic And Cerebellar Agenesis |
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Secundum atrial septal defect |
OMIM:609069 |
Poland Syndrome |
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Atrial septal defect, Dextrocardia |
ORPHA:2911 |
Faciocardiomelic Syndrome |
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Common atrium |
OMIM:612731 |
Fg Syndrome 2 |
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Broad hallux |
OMIM:300321 |
Congenital Short Bowel Syndrome |
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Intestinal hypoplasia, Lipoatrophy, Intestinal malrotation |
ORPHA:2301 |