Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defec... |
OMIM:601927 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... |
OMIM:231060 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, ... |
OMIM:617022 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Heterotaxy, Visceral, 7, Autosomal |
|
Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Tooth agenesis, Abnorma... |
ORPHA:1166 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal lung morphology, Cleft palate, Abnormal heart morphology, Atypical scarring of skin, Abn... |
ORPHA:294975 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... |
OMIM:617616 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Velocardiofacial Syndrome |
|
Inguinal hernia, Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard pa... |
OMIM:192430 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ... |
OMIM:265380 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb... |
ORPHA:90308 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic steno... |
ORPHA:3304 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, ... |
ORPHA:185 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Foo... |
ORPHA:477817 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, High, narrow palate, Cleft li... |
OMIM:616920 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... |
OMIM:614779 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Neonatal death, Diaphragmatic even... |
OMIM:608978 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hy... |
OMIM:600001 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturned corners of mouth, Ar... |
ORPHA:1110 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... |
OMIM:613759 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Neonatal death, Atrial septal def... |
OMIM:601186 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Short lingual frenulum, Anomalous origin of left coronary artery from the p... |
ORPHA:2326 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Hernia, ... |
ORPHA:2255 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Thin upper lip vermilion, Mesenteric cyst, Recurrent respiratory infections, Exagger... |
OMIM:618316 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Diabetic Embryopathy |
|
Ventricular septal defect, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ... |
ORPHA:1926 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia |
OMIM:617577 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Moyamoya phenomenon, Dilated cardiomyopathy, Abnormal left ventricle morphol... |
OMIM:300845 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Congestiv... |
ORPHA:615 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Doub... |
ORPHA:3426 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Patent ductus ... |
OMIM:179613 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave... |
ORPHA:90064 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard... |
OMIM:618280 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Prominent superficial veins, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Colon ... |
OMIM:617174 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... |
OMIM:306955 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios, Cleft palate, High palate, Arthrogryposis multiplex co... |
OMIM:615731 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Patent ductus arteriosus, Atrial... |
ORPHA:290 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Congenital Tracheomalacia |
|
Cardiomegaly, Atrial septal defect, Emphysema, Single ventricle, Esophageal atresia, Patent ductu... |
ORPHA:95430 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Cleft palate, Hypoplastic left heart, P... |
OMIM:220210 |
Transient Neonatal Diabetes Mellitus |
|
Dehydration, Abnormal heart morphology, Macroglossia, Umbilical hernia, Intrauterine growth retar... |
ORPHA:99886 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate |
OMIM:261800 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Abnormal EKG, Edema, Protruding tongue, Respiratory tract infectio... |
ORPHA:93400 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Short neck, Patent ductus arteriosus, ... |
OMIM:239850 |
Dextrocardia |
|
Meckel diverticulum, Abnormal EKG, Intestinal malrotation, Dextrocardia, Situs inversus totalis, ... |
ORPHA:1666 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Catel-Manzke Syndrome |
|
Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Shor... |
OMIM:616145 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Coffin-Siris Syndrome 3 |
|
Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Abnormal heart morphology, Wide mout... |
OMIM:614608 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Dextrocardia, Thoracic a... |
OMIM:619657 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... |
ORPHA:363705 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Short neck, Patent ductus arteriosus, Alveolar ridg... |
OMIM:612938 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Patent ductus arteriosus, Abnormal cardiac septum morphology, High palate, Inter... |
ORPHA:250989 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arte... |
ORPHA:2306 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Congenital diaphragmatic hernia, Flexion contracture, High palate, Bif... |
OMIM:208050 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Short neck, High, narrow palate, Abnormal lung lobation, Cleft palate,... |
ORPHA:2516 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Intestin... |
ORPHA:244 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Hepatosplenomegaly, Tela... |
ORPHA:101028 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios,... |
OMIM:164280 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Abnormal heart morphology, Congenital contracture, Short philtrum, Joint contrac... |
ORPHA:352490 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Edema, Polyhydramn... |
OMIM:267000 |
Fryns Syndrome |
|
Tented upper lip vermilion, Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Abnormal... |
ORPHA:2059 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Wide mouth, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ... |
OMIM:617228 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus... |
OMIM:300712 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Fac... |
OMIM:256550 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Ventral hernia, Prominent superficial veins, Inguinal hernia, Redundant skin, Carotid artery sten... |
OMIM:618000 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Proximal am... |
OMIM:253300 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T... |
ORPHA:2872 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria... |
OMIM:612946 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Pallor, Generalized amyotr... |
OMIM:613561 |
Eng-Strom Syndrome |
|
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect, C... |
ORPHA:1937 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Vascular ring, Mitr... |
OMIM:603387 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Skeletal muscle at... |
ORPHA:17 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Sup... |
OMIM:618164 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Right Atrial Isomerism |
|
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... |
OMIM:208530 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... |
OMIM:618052 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... |
ORPHA:2209 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus... |
ORPHA:163979 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... |
OMIM:252011 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Edema, Periorbital edema, Splenomegaly, Myocarditis, Congest... |
ORPHA:3386 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pu... |
OMIM:249670 |
Alg3-Cdg |
|
Lipodystrophy, Coarctation of the descending aortic arch, Macroglossia, Cardiomyopathy, Neural tu... |
ORPHA:79321 |
14Q11.2 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Ever... |
ORPHA:261120 |
Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Poly... |
OMIM:301056 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm,... |
OMIM:616652 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Thick up... |
OMIM:619717 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal... |
ORPHA:163596 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Inguinal hernia, Decreased muscle ... |
ORPHA:2962 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... |
OMIM:614096 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal... |
ORPHA:254534 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Dias... |
ORPHA:329224 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Timothy Syndrome |
|
Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis... |
OMIM:601005 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
ORPHA:500159 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Hydrop... |
ORPHA:87876 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... |
OMIM:617751 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Cardiomegaly, Congestive heart failure, Dental malocclusion, Myoca... |
OMIM:253250 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Asplenia, Dextrotransposition of the great arteries, Atrial septal de... |
OMIM:270100 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:614876 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Protruding tongue, Gingival overgrowth, Hepatosplenomegaly, Abnorm... |
ORPHA:93399 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Deep philtrum, Micronodular ci... |
OMIM:606003 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Intraut... |
OMIM:616276 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Multiple muscu... |
ORPHA:391641 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cleft lip, Splenomegaly, Jaundice, Patent ductus art... |
OMIM:251290 |
Cat Eye Syndrome |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Patent ductus a... |
OMIM:115470 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... |
ORPHA:91387 |
Tetralogy Of Fallot |
|
Intrauterine growth retardation, Thin vermilion border, Tetralogy of Fallot |
ORPHA:3303 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of... |
ORPHA:251076 |
Chromosome 18Q Deletion Syndrome |
|
Short neck, Downturned corners of mouth, Short philtrum, Atrial septal defect, Bifid uvula, Dyspl... |
OMIM:601808 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co... |
ORPHA:2876 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal aortic m... |
ORPHA:3405 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Inguinal hernia, Tetralogy of Fallot |
OMIM:615542 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Lipoatrophy, Congestive heart failure, Emphy... |
ORPHA:363618 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Patent duc... |
OMIM:618652 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia, Dry skin, High palate |
ORPHA:1035 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Gingival overgrowth, Hydrops ... |
OMIM:269920 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Cleft pa... |
OMIM:620210 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Pallor, Palpitations, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276556 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Short neck, Patent ductus arteriosus, Short philtrum, Abnormal oral cavity morphology, Umbilical ... |
ORPHA:1516 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Pallor, Palpitations, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276575 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Ventricular septal defect, Cleft upper lip, Short ne... |
OMIM:612582 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral val... |
ORPHA:371428 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Abnormal heart morph... |
ORPHA:401935 |
X-Linked Mandibulofacial Dysostosis |
|
Branchial anomaly, High palate, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology,... |
ORPHA:1131 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, High palate, Camptodactyly, Atrial septal defe... |
OMIM:614846 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Pulmonary... |
OMIM:616028 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Redundant skin, Morgagni diaphragmatic hernia, Periorbital edema, Rectal prolapse, Hypoplasia of ... |
OMIM:613177 |
Digeorge Syndrome |
|
High, narrow palate, High palate, Short philtrum, Hypoplasia of the thymus, Hepatic steatosis, Bi... |
OMIM:188400 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Facial hypotonia, Abnormal cardiac ventricle morphology, Hypopl... |
ORPHA:261311 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... |
ORPHA:85451 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cleft palate, Glossoptosis, Atrial septal def... |
ORPHA:1388 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Decreased muscle mass, Dental crowding, Bicuspid aortic valve, Ventricular septa... |
OMIM:130720 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, Myocarditis... |
ORPHA:3099 |
Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Perimembranous ventricular septal... |
OMIM:618205 |
Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect, Intrauterine growth retar... |
ORPHA:2515 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short neck, Abnormal heart morphology, Downturned corners of mouth, Ma... |
ORPHA:369891 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Pallor, Palpitations, Diffuse pancreatic islet hyperplasia, H... |
ORPHA:276580 |
Lambert Syndrome |
|
Inguinal hernia, Ventricular septal defect, Jaundice, Cholestasis, Wide mouth, Branchial anomaly,... |
ORPHA:1296 |
Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo... |
ORPHA:57777 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Short neck, Meningocel... |
ORPHA:2311 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Heart... |
ORPHA:99931 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Asplenia, Situs inversus totalis, Atrioventricular canal de... |
OMIM:605376 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingival overgrowth, Mitral ... |
ORPHA:137834 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Jaundice, Cervical lymphadenop... |
ORPHA:2331 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Absent gallbladder, Median cleft lip, Overriding aorta, Orofacial cleft, Tetralogy o... |
ORPHA:3186 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Long uvula, Widened atrophic scar, Redundant skin, Carotid arter... |
ORPHA:536532 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Inguinal hernia, Cigarette-paper scars, Irregularly spaced teeth, Mitral valve prolapse, Aortic r... |
OMIM:130000 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ente... |
OMIM:235510 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Inguinal hernia, Redundant skin, Congenital diaphragmatic herni... |
OMIM:219100 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating aspartate aminot... |
OMIM:614921 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Webbed neck, Short philtrum, Widely spaced teeth, Hepatomegaly, Elevated circulating aspartate am... |
OMIM:280000 |
Rin2 Syndrome |
|
Irregular dentition, Redundant skin, Gingival overgrowth, Upper eyelid edema, Abnormal lip morpho... |
ORPHA:217335 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... |
OMIM:126320 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Short neck, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect... |
OMIM:617506 |
Carpenter Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Persistence of primary teeth, Short neck, Patent ductus a... |
OMIM:201000 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Unilateral cleft lip |
ORPHA:1919 |
Encephalocraniocutaneous Lipomatosis |
|
Lipodystrophy, Coarctation of aorta, Multiple lipomas, Abnormal aortic morphology, Interrupted ao... |
ORPHA:2396 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Intrauterin... |
ORPHA:858 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Polyhydramnios, Anteriorly placed anus, Tetralogy of Fallot, Supravalv... |
OMIM:618624 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Cleft palate, Webbed neck, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
Fg Syndrome Type 1 |
|
Inguinal hernia, Dental crowding, Progressive flexion contractures, Abnormal large intestine morp... |
ORPHA:93932 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Widened atrophic scar, High, narrow palate, Wrist drop, Muscle fiber atrop... |
ORPHA:1900 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... |
OMIM:619167 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... |
OMIM:601612 |
Fetal Encasement Syndrome |
|
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Thin skin, Tetralogy of Fa... |
OMIM:613630 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Abnormal muscle fiber morphology, Abnormal heart morphology, Camptodactyly of to... |
OMIM:175700 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Abnormal pleura morphology, Sudden cardiac death, Mediastinal lymphadeno... |
ORPHA:397 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Congenital diaphragmatic hernia, Hernia, Abnormal dental morphology, Abnor... |
ORPHA:2092 |
Apert Syndrome |
|
Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Esophageal atresia, Pylor... |
OMIM:101200 |
Hyperekplexia 4 |
|
Inguinal hernia, Flexion contracture, Distal arthrogryposis, High palate, Camptodactyly, Umbilica... |
OMIM:618011 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Gingival overgro... |
ORPHA:96191 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
ORPHA:2143 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios |
ORPHA:3033 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... |
OMIM:615524 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Pagod Syndrome |
|
Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Spina bifida, Situs inversus totalis... |
ORPHA:991 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Deep philtrum, Patent ductus arterio... |
ORPHA:163956 |
Williams Syndrome |
|
Bicuspid aortic valve, Redundant skin, Abnormal cerebral vascular morphology, Cardiomegaly, Perio... |
ORPHA:904 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Tricuspid regurgitation, Exaggerated cupid's bow, Ventricular septal... |
OMIM:615879 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Lower limb hyperton... |
OMIM:169400 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdo... |
ORPHA:2990 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Recurrent upper respiratory tract infections, Asymme... |
OMIM:252900 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Coarcta... |
ORPHA:1923 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Short neck, Patent ductus arteriosus, Wide mouth, ... |
ORPHA:1517 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong... |
OMIM:614473 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Dehydration, Abnorm... |
ORPHA:1667 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Lymphedema, Splenomegaly, Lymphadenopathy, Intrac... |
ORPHA:3226 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Oligodontia, Pulmo... |
OMIM:618330 |
Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal d... |
OMIM:618354 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, High palate, Atrial septal defect, Patent foramen ovale, Recurre... |
ORPHA:2745 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Short neck, Patent ductus arteriosus, Palmoplantar cut... |
OMIM:615355 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyo... |
ORPHA:848 |
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 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Deep philtrum, Wide mouth, Short philtrum, Thick vermilion border, Narrow mouth,... |
OMIM:615834 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Increased nuchal transl... |
OMIM:618494 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... |
OMIM:614702 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cl... |
OMIM:612561 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Inguinal hernia, Abnormal pleura morphology, Short neck, Lymphe... |
ORPHA:584 |
Aneurysm-Osteoarthritis Syndrome |
|
High palate, Abdominal aortic aneurysm, Bifid uvula, Arterial tortuosity, Patent ductus arteriosu... |
ORPHA:284984 |
German Syndrome |
|
Camptodactyly of finger, Short neck, Lymphedema, Orofacial cleft, Abnormal cardiac septum morphol... |
ORPHA:2077 |
Mmep Syndrome |
|
Median cleft lip, Ventricular septal defect, Orofacial cleft |
ORPHA:3434 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate, Abnormal heart morphology, Diaphragmatic eventration, In... |
OMIM:600252 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Intestinal pseudo-obstruction, Abnormal... |
OMIM:309900 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure... |
OMIM:235200 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contracture, Abnormal heart morphology... |
ORPHA:314588 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Ventricular hypertrophy, Elevated circulating aspartate aminotrans... |
OMIM:300280 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect, Jejunal atresia |
ORPHA:391646 |
Achondrogenesis |
|
Inguinal hernia, Polyhydramnios, Short neck, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Lo... |
ORPHA:932 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a... |
ORPHA:1600 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ... |
OMIM:300855 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Short neck, Cleft lip, Patent ductus arteriosus, Cleft palate, Narrow pala... |
OMIM:618223 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Thomas Syndrome |
|
Hypoplastic left heart, Oligohydramnios, Cleft palate, Cleft upper lip |
ORPHA:3316 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia,... |
ORPHA:1596 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Redundant nec... |
OMIM:235255 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Short neck, Orofacial cleft, Downturned corners of mouth, Short philt... |
ORPHA:1507 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Esophageal Atresia |
|
Omphalocele, Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Inte... |
ORPHA:1199 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ... |
OMIM:619472 |
Charge Syndrome |
|
Polyhydramnios, Secundum atrial septal defect, Atrial septal defect, Pulmonary artery atresia, Ov... |
OMIM:214800 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn... |
ORPHA:563 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Do... |
OMIM:614886 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Thin upper lip vermilion, Gingival overgrowth, High palate, Short philtrum, Increased overbite, N... |
OMIM:616977 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Cardiomegaly, Myocardial infarction, Carotid artery calcification,... |
OMIM:208000 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Short neck, Flexion contracture, Hydrops... |
OMIM:616897 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Umbi... |
ORPHA:1770 |
Charge Syndrome |
|
Delayed eruption of teeth, Aortic arch aneurysm, Facial palsy, Polyhydramnios, Cleft upper lip, A... |
ORPHA:138 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Inguinal hernia, Abnormal heart morphology, Everted lower lip vermilion, Short phi... |
OMIM:601499 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopi... |
ORPHA:2476 |
Achondrogenesis, Type Ib |
|
Inguinal hernia, Polyhydramnios, Edema, Hydrops fetalis, Stillbirth, Umbilical hernia |
OMIM:600972 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Cleft palate, Intrauterine growth retardation, Truncus arteriosus, Smoo... |
OMIM:611867 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... |
ORPHA:75565 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Umbilical hernia, Inguinal hernia, Accessory oral frenulum |
ORPHA:1373 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Malabsorption, Periorbital edema, Splenomeg... |
ORPHA:33226 |
Meester-Loeys Syndrome |
|
Striae distensae, Gingival overgrowth, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... |
OMIM:300989 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion border... |
OMIM:615502 |
Kagami-Ogata Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Diastasis recti, Polyhydra... |
OMIM:608149 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ... |
OMIM:617168 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Patent ductus arteriosus, Pulmonary artery stenosis,... |
ORPHA:251071 |
Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctation of the aorta |
OMIM:215045 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital dia... |
OMIM:618454 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Short neck, Abnormal lung lobation, Abnormal aortic arch morphology, Short philtr... |
ORPHA:567 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Omphalocele, Ventricular septal defect, Abnormal pericardium m... |
ORPHA:1335 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal... |
OMIM:616589 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Pedal edema, He... |
ORPHA:422 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of... |
OMIM:618914 |
Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Short neck... |
OMIM:607014 |
Macs Syndrome |
|
Irregular dentition, Dilation of Virchow-Robin spaces, Palpebral edema, Redundant skin, Gingival ... |
OMIM:613075 |
Zimmermann-Laband Syndrome 1 |
|
Delayed eruption of teeth, Hepatomegaly, Aortic arch aneurysm, Splenomegaly, Patent ductus arteri... |
OMIM:135500 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension |
ORPHA:3222 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Narrow mouth, Atrial septal defect, Anal atresia |
ORPHA:3469 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Congenital ... |
OMIM:618846 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Abnormality... |
ORPHA:915 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Absent... |
ORPHA:284169 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Anteriorly p... |
ORPHA:1488 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft ... |
OMIM:153400 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Short neck, Patent ductus arteriosus, Bilateral cleft lip and palate, Abn... |
ORPHA:2001 |
Down Syndrome |
|
Redundant neck skin, Aganglionic megacolon, Ventricular septal defect, Protruding tongue, Complet... |
OMIM:190685 |
Achondrogenesis Type 1B |
|
Femoral hernia, Polyhydramnios, Short neck, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Lon... |
ORPHA:93298 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... |
OMIM:608328 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... |
OMIM:616166 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol... |
ORPHA:449400 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Congenital diaphragmatic hernia, Long philtrum, Atrial septal defect, Pu... |
OMIM:300887 |
Aminopterin Syndrome Sine Aminopterin |
|
Inguinal hernia, Cleft palate, Oligodontia, High palate, Umbilical hernia, Joint contracture of t... |
OMIM:600325 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Recurrent respiratory infections, Right axis deviat... |
OMIM:232300 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:600987 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Recurrent lower respiratory tract infections, Perimembranous ventricular septal ... |
OMIM:619170 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Recurrent respiratory infections, Pulmonary edema, Atrial fibrillation, Left atrial... |
ORPHA:75249 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Recurrent pneumonia, Thick vermilion border, Cardiomegaly |
ORPHA:3137 |
Lymphatic Malformation 6 |
|
Genital edema, Prune belly, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomeg... |
OMIM:616843 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Long philtrum, Atrial septal defect, Patent ... |
OMIM:619189 |
Emanuel Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, High palate, Atrial septal defect, Joint contra... |
OMIM:609029 |
Achondrogenesis Type 1A |
|
Femoral hernia, Polyhydramnios, Short neck, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Lon... |
ORPHA:93299 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Short neck, Splenomegaly, Flexion... |
OMIM:253220 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital ... |
OMIM:614294 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hernia, Patent ductus art... |
ORPHA:2847 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Alveolar bone loss around teeth, Prominent superficial veins, Inguinal hernia, Hiatus hernia, Int... |
OMIM:130080 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Inguinal hernia, Tricuspid regurgitation, Redundant umbilical skin, Clef... |
OMIM:614557 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis,... |
OMIM:611812 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Non-midline cleft lip, Meningoc... |
ORPHA:1908 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short neck, Bone marrow hypocellularity, Pallor, Atrial septal defect,... |
OMIM:609053 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Umbilical hernia, Intrauterine growth retardation, Severe intrauterine growth retardation, Oligoh... |
ORPHA:231144 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Idiopathic Congenital Hypothyroidism |
|
Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia |
ORPHA:95717 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal dental morphology, Open bite, Dental malocclusion, Abnormal cardiac septum morphology, H... |
ORPHA:3079 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Increased nuchal translucency, P... |
OMIM:616564 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Short neck, Coarctation of aorta, Pulmonic stenosis, Webbed neck |
OMIM:616559 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Inguinal hernia, Recurrent respiratory infections, Abnorma... |
ORPHA:576 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth |
ORPHA:83473 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... |
OMIM:618974 |
Roifman Syndrome |
|
Thin upper lip vermilion, Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, ... |
OMIM:616651 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Patent ductu... |
ORPHA:2970 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracrani... |
ORPHA:3260 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Inguinal hernia, Abnormal mitral valve morphology, Wide mouth, Long philtrum, Atrial septal defec... |
ORPHA:1292 |
Muscular Hypertonia, Lethal |
|
Umbilical hernia, Pneumonia |
OMIM:254120 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Intrauterine growth retardation, Hypertension, Arrhythmia, Long philtrum, Neonat... |
OMIM:614052 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Secundum atrial septal defect, Wide mouth, Hypertension, Median... |
OMIM:619758 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... |
ORPHA:3097 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Inguinal hernia, Ventricular septal defect, High palate, Broad alveolar ridges |
OMIM:314320 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Mosaic Trisomy 1 |
|
Omphalocele, Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios... |
ORPHA:1692 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Cleft upper lip, Rectoureth... |
OMIM:300000 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atria... |
ORPHA:2257 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Umbilical hernia |
ORPHA:2349 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Paroxysmal supraventricular tachycardia, Pierre-Robin ... |
OMIM:617877 |
Ogden Syndrome |
|
Everted upper lip vermilion, Inguinal hernia, Ventricular septal defect, Torticollis, High, narro... |
ORPHA:276432 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ectopic anus, Short philtrum |
ORPHA:94066 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Polyhydramnios, Abnormal stomach morphology, Ascending aorta hypoplasi... |
ORPHA:141127 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Short neck, High palate, Long philtrum, Umbilical hern... |
OMIM:613544 |
Hajdu-Cheney Syndrome |
|
Short neck, Downturned corners of mouth, Periodontitis, Hernia, Hepatomegaly, Open bite, Patent d... |
ORPHA:955 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Redundant skin, High, narrow palate, Hypoplasia of the abdominal wall musc... |
OMIM:612289 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Edema, Short neck, Patent ductus arteriosus, Cholestasis, Perimembranous ventricula... |
OMIM:608104 |
Distal Deletion 3P |
|
Inguinal hernia, Short neck, Cleft palate, Downturned corners of mouth, Thin vermilion border, Hi... |
ORPHA:1620 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Polyhydramnios, High, narrow palate, Cleft palate, Narrow palate, High... |
OMIM:615102 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Broad secondary alveolar ridge, Ventricular septal defect, High palate, Inguinal hernia |
ORPHA:3369 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Increased nuchal translucency, W... |
OMIM:615668 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Peau d'orange, Ventricular septal defect, Splenomega... |
OMIM:614576 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Enlarged kidney, Tra... |
OMIM:314390 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Ventricular septal defect, Dental crowding, Short neck, High, narrow palate, Men... |
ORPHA:2789 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... |
OMIM:600649 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Abnormal dental morphology, Peripheral ... |
ORPHA:217085 |
Robinow Syndrome |
|
Dental crowding, Orofacial cleft, Atrial septal defect, Persistence of primary teeth, Gingival ov... |
ORPHA:97360 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Absent cupid's bow, Abnormality of the gi... |
ORPHA:513456 |
Emanuel Syndrome |
|
Multiple joint contractures, Dental crowding, Redundant neck skin, Congenital diaphragmatic herni... |
ORPHA:96170 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palat... |
OMIM:301043 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Pa... |
ORPHA:1120 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Open mouth, Ventricular septal defect, Increased variability in muscle fiber diameter |
OMIM:616816 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Intestinal malrotation, Ventricular septal defect, Congenital diaphragmatic hern... |
OMIM:617602 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic... |
ORPHA:568051 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo... |
ORPHA:580 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Abnormality of the dentition, Thick lower lip vermilion, Abnormal h... |
ORPHA:261652 |
Holzgreve Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
OMIM:236110 |
Opitz-Kaveggia Syndrome |
|
Anal stenosis, Multiple joint contractures, Dental crowding, Intestinal malrotation, Inguinal her... |
OMIM:305450 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Shor... |
OMIM:605275 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... |
OMIM:618775 |
3C Syndrome |
|
Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, Intestinal malrotat... |
ORPHA:7 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Abnormal dental morphology, Peripheral ... |
ORPHA:217093 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Macroglossia, Umbilical hernia, Dry skin |
OMIM:275100 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion ... |
OMIM:613870 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops fe... |
OMIM:232500 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Inguinal hernia, Tented upper lip vermilion, Macroglossia, High palate, Umbilical hernia |
OMIM:616025 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia, Patent ductus arteriosus, Thin vermilion border, Long philtrum |
ORPHA:171839 |
Immunodeficiency 49 |
|
Natal tooth, Psoriasiform dermatitis, Eosinophilia, Pulmonary artery stenosis, Cutis laxa, Short ... |
OMIM:617237 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Cleft lip, Comp... |
OMIM:619343 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly |
ORPHA:88643 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Atrial septal defect, Dental crowding, Left ventricular noncompaction cardiomyopathy, Ventricular... |
OMIM:300967 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Tetralogy of Fallot, Abnormality of the philtrum, Abnormality of the dentition |
ORPHA:276422 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Short neck, Congestive heart fail... |
OMIM:105650 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum |
OMIM:620393 |
Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Abnormality of the dentition, Hypersplenism, Splenomegaly, Jaundic... |
ORPHA:231226 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric... |
ORPHA:210122 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent tee... |
OMIM:618506 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pol... |
OMIM:616777 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat... |
OMIM:617713 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... |
ORPHA:974 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Proteus Syndrome |
|
Splenomegaly, Multiple lipomas, Lipoma, Open mouth, Venous malformation |
OMIM:176920 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Short neck, Cleft palate, Lo... |
OMIM:615583 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, Bronchiectasis, High palate, Long philtrum, Atrial sept... |
OMIM:620184 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Cleft soft palate, Nonimmune hydrops fetalis, S... |
ORPHA:124 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the proximal ... |
OMIM:300166 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Fetal ascites, Ascending aorta hypoplasia, Deep philtrum, Flexion contracture, K... |
OMIM:619503 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P... |
ORPHA:3378 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Orofacial... |
ORPHA:1519 |
Distal Deletion 19P |
|
Vaginal hernia, Ventricular septal defect, Cleft palate, Keloids, Short philtrum, Tricuspid valve... |
ORPHA:96129 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Aortic root aneurysm, Mitral regurgitation, Short philtrum, Camptodact... |
OMIM:301039 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Redundant skin, Cleft upper lip, Abnormality ... |
ORPHA:96167 |
Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Recurrent respiratory infections, Ventricular septal d... |
OMIM:618950 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Secundum atrial septal ... |
OMIM:249420 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Inguinal hernia, Malabsorption, Venous insufficiency, Vascular dilat... |
ORPHA:565 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Velopharyngeal insuffic... |
ORPHA:199302 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short neck, Cardiomegaly, Deep philtrum, Hypertension, Pulmonary arterial hypertension, Vascular ... |
OMIM:613320 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular... |
OMIM:618651 |
Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial... |
ORPHA:139466 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, High palate, Short philtrum, Hernia, Tetralogy of Fallot |
ORPHA:3306 |
Tetrasomy 9P |
|
Myositis, Dental crowding, Short neck, Biliary atresia, Downturned corners of mouth, High palate,... |
ORPHA:3310 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Everted upper lip vermilion, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... |
OMIM:608013 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Protruding tongue, Congestive heart failur... |
ORPHA:324410 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Redundant nec... |
ORPHA:1655 |
Loeys-Dietz Syndrome 4 |
|
Inguinal hernia, Torticollis, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, ... |
OMIM:614816 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pyloric stenosis, Pulmonic stenosis, Camptodactyly, Atrial septal defe... |
OMIM:614262 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Short n... |
OMIM:616894 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... |
OMIM:249270 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy... |
OMIM:607598 |
Vascular Ehlers-Danlos Syndrome |
|
Redundant skin, High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Micro... |
ORPHA:286 |
Familial Multiple Nevi Flammei |
|
Edema, Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arterioveno... |
ORPHA:624 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus, High palate, Atrial... |
OMIM:618142 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... |
OMIM:618021 |
Burn-Mckeown Syndrome |
|
Inguinal hernia, Ventricular septal defect, Cleft upper lip, Cleft palate, Thin vermilion border,... |
OMIM:608572 |
Meige Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Absence of lymph node germinal center, Facial ed... |
ORPHA:90186 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Cleft palat... |
ORPHA:2345 |
Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Progressive alveolar ridge hypertropy, Hepatomegaly, Gingival overgrowth, Umbilical... |
OMIM:252500 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Omphalocele, Intestinal malrotation, Polyhydramnios, Abnormal lung lobation, Cleft... |
ORPHA:2166 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Protein... |
OMIM:619991 |
Luo-Schoch-Yamamoto Syndrome |
|
Tricuspid regurgitation, Wide mouth, Widely-spaced maxillary central incisors, Thick vermilion bo... |
OMIM:619460 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... |
OMIM:602782 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Cleft palate, Lobulated tongue, Intrahepatic ... |
OMIM:614815 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Redundant skin, Congestive hear... |
OMIM:123700 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Camptodact... |
OMIM:607015 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Intestinal malrotation, Abnormal... |
ORPHA:2712 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Everted lower lip vermilion, Long philtrum,... |
ORPHA:75389 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short neck, Wide mouth, Pulmonic stenosis, Webbed neck, Atrial septal ... |
OMIM:615279 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Deep philtrum, Gingival... |
OMIM:618143 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, J... |
OMIM:243150 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Pne... |
ORPHA:99104 |
Thyroid Hemiagenesis |
|
Macroglossia, Jaundice, Umbilical hernia |
ORPHA:95719 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Inguinal hernia, Femoral hernia, Protruding tongue, Conotruncal defect, Coa... |
ORPHA:96147 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Inguinal hernia, Thin skin, Hernia |
ORPHA:75497 |
Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... |
ORPHA:85202 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Pericallosal lipoma, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mo... |
ORPHA:398156 |
Fanconi Anemia |
|
Abnormality of the liver, High palate, Atrial septal defect, Spina bifida, Aplasia/Hypoplasia of ... |
ORPHA:84 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Aort... |
OMIM:620025 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Ventricular septal defect, Short neck, Downturned corners of mouth, Short philtrum |
ORPHA:93267 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Pa... |
OMIM:300963 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Wide mouth, High, narrow palate, Umbilical hernia, Downturned corners of mouth |
OMIM:273390 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhag... |
ORPHA:536545 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Redundant neck skin, Polyhydramnios, Short neck, Deep philtrum, Flexi... |
ORPHA:96334 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Polyhydramnios, Short neck, Congenital diaphragmatic hernia, High, narrow pa... |
ORPHA:373 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Anterior basal encephalocele, Wi... |
OMIM:136760 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cardiomegaly, Cleft palate, Cardiomyopathy, Impaired myocardial contractility, Hypov... |
ORPHA:158687 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Thin upper lip vermilion, Inguinal hernia, Bicuspid aortic valve, Long neck... |
OMIM:611962 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Thick vermilion border, High palate, Pulmona... |
OMIM:620113 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoplasia of the musculature, Abnormality of the dentition, Hypersplenism, Splenom... |
ORPHA:231214 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Ventricular septal defect, A... |
OMIM:145420 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Abnormal palate morphology, Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
Triploidy |
|
Omphalocele, Hepatomegaly, Intestinal malrotation, Polyhydramnios, Short neck, Abnormality of the... |
ORPHA:3376 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Cleft palate, Cleft upper lip |
OMIM:214300 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypo... |
ORPHA:84064 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Short neck, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great art... |
OMIM:616789 |
Leopard Syndrome 3 |
|
Short neck, Dry skin, Abnormal aortic valve morphology, Webbed neck, Abnormal mitral valve morpho... |
OMIM:613707 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... |
OMIM:313850 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis, Sudden cardiac death, C... |
OMIM:201475 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bicuspid aortic valve, Ventricular septal defect, Short neck, Patent ductus arte... |
OMIM:121050 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Lymphedema, Venous insufficiency, Abnormality of the spleen, Abnorma... |
ORPHA:33276 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Narrow mouth, Everted lower lip vermilion, Long philtrum, Atrial septa... |
ORPHA:228399 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Short neck, Polyhydramnios, Lobulated tongue, Neonatal death, Patent foramen ovale, Hepato... |
OMIM:269860 |
Filippi Syndrome |
|
Ventricular septal defect, Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Intrau... |
OMIM:272440 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short phi... |
ORPHA:261190 |
Schwartz-Jampel Syndrome, Type 1 |
|
Pursed lips, Inguinal hernia, Hip contracture, Skeletal muscle atrophy, Shoulder flexion contract... |
OMIM:255800 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Polyhydramnios, High, narrow palate, Flexion contracture, Aortic isthmus hypopla... |
OMIM:180849 |
Chromosome 9P Deletion Syndrome |
|
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Short neck, Hi... |
OMIM:158170 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... |
OMIM:252920 |
3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Skeletal muscle atrophy, Ventricular septal defect, High, narrow palate... |
ORPHA:435638 |
Classical Ehlers-Danlos Syndrome |
|
Incisional hernia, Rectal prolapse, Ecchymosis, Hiatus hernia, Cigarette-paper scars, Abnormal he... |
ORPHA:287 |
Peters Plus Syndrome |
|
Polyhydramnios, Short neck, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Widely ... |
ORPHA:709 |
Imagawa-Matsumoto Syndrome |
|
Anteriorly placed anus, Umbilical hernia, Camptodactyly |
OMIM:618786 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Primary Lateral Sclerosis, Juvenile |
|
Difficulty in tongue movements, Spasticity of facial muscles, Pallor |
OMIM:606353 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return, Hernia of the a... |
ORPHA:2184 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
Idiopathic Pulmonary Arterial Hypertension |
|
Edema of the dorsum of feet, Tricuspid regurgitation, Increased pulmonary vascular resistance, Co... |
ORPHA:275766 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Inguinal hernia, Dental malocclusion, Narrow palate, Mitral valve prolapse, High palate, Minimal ... |
OMIM:182212 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Hypoplasia of the thymus, High palate, Bradycardia, Third degree atrioventric... |
ORPHA:40366 |
Trisomy 1Q |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaph... |
ORPHA:261344 |
Arterial Tortuosity Syndrome |
|
Redundant skin, Myocardial infarction, Femoral hernia, Hiatus hernia, Pulmonary artery stenosis, ... |
ORPHA:3342 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Tricuspid regurgitation, Pneumonia, Car... |
OMIM:253200 |
You-Hoover-Fong Syndrome |
|
Accessory oral frenulum, Cleft palate, Coarctation of aorta, Vascular ring, Double aortic arch |
OMIM:616954 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Cleft palat... |
ORPHA:2008 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Intestinal malrotation, Dextrocardia, Abnormal heart valve morphology,... |
ORPHA:99776 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... |
OMIM:601357 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Redundant neck skin, Exaggerated cupid's bow, Diastasis recti, Poly... |
ORPHA:254528 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Dis... |
ORPHA:42 |
Donnai-Barrow Syndrome |
|
Omphalocele, Diaphragmatic eventration, Ventricular septal defect, Intestinal malrotation, Congen... |
OMIM:222448 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contracture, Lower limb muscle... |
ORPHA:365 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ... |
ORPHA:97214 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Absent pulmonary artery, Cl... |
OMIM:600460 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Wide mouth, High palate, Intrauterine growth retardation, Tetralogy of... |
OMIM:613398 |
2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Pyloric stenosis, Downturned corners of mouth, Thin ... |
ORPHA:1001 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Cutis laxa, Distal amyotrophy, Thin skin, Narrow mouth, Umbilical hernia, Intrau... |
OMIM:219150 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Keloids, Ventricular septal defect |
ORPHA:357225 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery, Aganglionic megacolon |
ORPHA:895 |
Holoprosencephaly 14 |
|
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... |
OMIM:619895 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Cardiomegaly, Splen... |
ORPHA:465508 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, Camptodactyly of fi... |
ORPHA:354 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Tracheoesophageal fistula... |
ORPHA:1780 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Edema, Jaundice,... |
ORPHA:20 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ... |
OMIM:617982 |
King-Denborough Syndrome |
|
Ventricular septal defect, Short neck, Centrally nucleated skeletal muscle fibers, Deep philtrum,... |
OMIM:619542 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Bicuspid aortic valve, Atrial septal defect, Supernumerary tooth, Talon cusp, Pa... |
ORPHA:353281 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Respiratory tract infection, Elevated circulating a... |
ORPHA:308552 |
Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:822 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Polyhydramnios, Intrahepatic chol... |
OMIM:606812 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Exaggerated cupid's bow, Ventricular septal defect, Dextrotransposition of... |
OMIM:618619 |
Duodenal Atresia |
|
Polyhydramnios, Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary arter... |
ORPHA:1203 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Congenital diaphragmatic hernia, Abnormal lung lobation, Atrial septal defect, He... |
OMIM:312870 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Dermal translucency, Dental crowding, Vascular dilatation, Atypical scarring of skin, Varicose ve... |
OMIM:618343 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Pallor, Palpitations, Positive regitine blocking t... |
ORPHA:94080 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... |
ORPHA:99103 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, High palate |
OMIM:609654 |
Scarf Syndrome |
|
Inguinal hernia, Diastasis recti, Short neck, Hepatocellular adenoma, Webbed neck, Cutis laxa, Lo... |
ORPHA:3134 |
Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Polyhydramnios, Abnormality of the ... |
ORPHA:3071 |
Alagille Syndrome 2 |
|
Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Te... |
OMIM:610205 |
Multiple Pterygium Syndrome, X-Linked |
|
Edema, Polyhydramnios, Cleft upper lip, Flexion contracture, Cleft palate, Amyoplasia, Hypoplasti... |
OMIM:312150 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Atrial septal defect, Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Ca... |
OMIM:245600 |
Diprosopus |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate |
ORPHA:1681 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Premature arteriosclerosis, Abnor... |
ORPHA:79474 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Skin ulcer, Thin... |
ORPHA:743 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Recurrent respiratory infections, Abnormal pulmonary val... |
ORPHA:667 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Edema, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, S... |
OMIM:618348 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Increased nuchal translucency, Wide mouth, Intrauterine growth retarda... |
OMIM:617635 |
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 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Patent ductus arteriosus, High palate, Mitral valve prolapse |
OMIM:104350 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, High palate, Lower limb hypertonia, Dextrotransposition of the great a... |
OMIM:619995 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Aganglionic megacol... |
OMIM:174300 |
Familial Thyroid Dyshormonogenesis |
|
Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia |
ORPHA:95716 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Thin upper lip vermilion, Recurrent respiratory infections, Tented upper lip vermilion, Facial hy... |
OMIM:616579 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Short neck, Abnormal lung lobation, Cleft maxillary alveolar ridge, Atrioventricu... |
ORPHA:508488 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Tented upper lip vermilion, Ventricular sep... |
OMIM:615582 |
Vascular Malformation, Primary Intraosseous |
|
Diastasis recti, Ectopic tooth eruption, Umbilical hernia, Gingival bleeding |
OMIM:606893 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Inguinal hernia, Decreased muscle ... |
ORPHA:2834 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe... |
OMIM:614300 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Intestinal malrotation, Polyhydramnios, Neoplasm of the heart, Umbilical hernia, Mic... |
ORPHA:2241 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Oral ulcer, High palate, Hypoplasia of the thymus, Hepatomegaly, P... |
OMIM:612541 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... |
OMIM:253700 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal oral mucosa morphology, Splenomegaly, Skin ... |
ORPHA:507 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Thin skin, Purpura |
ORPHA:745 |
Hemoglobin D Disease |
|
Splenomegaly, Pallor |
ORPHA:90039 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Var... |
ORPHA:33001 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Carpenter Syndrome |
|
Umbilical hernia, Patent ductus arteriosus, Polysplenia |
ORPHA:65759 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus arteriosus, Orofacia... |
ORPHA:2328 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Inguinal hernia, Spontaneous neonatal pneumothorax, Frontal open bite, Redundant skin, Gingival o... |
OMIM:225410 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Polyhydramnios, Protruding tongue, Abnormal heart morp... |
OMIM:617062 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Median cleft lip, Tetralogy of Fallot, Short neck |
OMIM:617926 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Delayed eruption of primary teeth, Congenital diaphragmatic hernia, High, narrow... |
ORPHA:2409 |
Gapo Syndrome |
|
Delayed eruption of teeth, Palpebral edema, Abnormal cerebral vascular morphology, Everted lower ... |
ORPHA:2067 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Recurrent upper respiratory tract infections, High p... |
ORPHA:284180 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Thick... |
OMIM:618027 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... |
ORPHA:268 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... |
OMIM:208085 |
Marshall-Smith Syndrome |
|
Irregular dentition, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate, Aspiratio... |
OMIM:602535 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta, Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular ao... |
OMIM:217085 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Cleft upper lip, Flexion contracture, Erythema, Mild intrauterine growth retardation, Abnormal ca... |
OMIM:308050 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Downturned corners of mouth, W... |
OMIM:618067 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Thin upper lip vermilion, Tricuspid regurgitation, High, narrow pal... |
OMIM:612863 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Thin upper lip vermilion, Inguinal hernia, Dilation of Virchow-Robin spaces, Dental crowding, Ven... |
OMIM:300998 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Pursed lips, Inguinal hernia, Hip contracture, Short neck, Elbow flexion contracture, Knee flexio... |
OMIM:616266 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,... |
OMIM:268800 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Varicose veins, Cellulitis, Abnorma... |
ORPHA:79452 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hernia, Ventricular septal defect, Smooth philtrum |
OMIM:602501 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete at... |
OMIM:264480 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Inguinal hernia, Recurrent sinopulmonary infections, Malabsorption, Abnormality of ... |
ORPHA:581 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus art... |
OMIM:102500 |
Char Syndrome |
|
Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar... |
ORPHA:46627 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequence, Cleft palate, Anteriorly... |
OMIM:619980 |
Mogs-Cdg |
|
Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, High pala... |
ORPHA:79330 |
Mosaic Trisomy 16 |
|
Single coronary artery origin, Ventricular septal defect, Large placenta, Patent ductus arteriosu... |
ORPHA:1708 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness |
OMIM:266500 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, I... |
OMIM:618870 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Redundant skin, Cutis laxa, Tooth agenesis, Eve... |
ORPHA:2963 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... |
OMIM:617201 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Inguinal hernia, Pulmonary cyst, Enlarged kidney |
OMIM:618272 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Short neck, Esophageal atresia, Patent ductus arteriosus, Abnormal lun... |
OMIM:300514 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Bicuspid aortic valve, Polyhydramnios, High palate, Atrial septal defect, Patent... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Bicuspid aortic valve, Polyhydramnios, High palate, Atrial septal defect, Patent... |
ORPHA:353277 |
Acute Myelomonocytic Leukemia |
|
Abnormality of the gingiva, Eosinophilia, Pallor |
ORPHA:517 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Ventricular septal defect |
OMIM:613730 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:380 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia, Dry skin |
ORPHA:226313 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Inguinal hernia, Edema, Congestive heart failure, Cleft palate, Long philtrum, Umbilical hernia |
ORPHA:2505 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Shor... |
OMIM:244300 |
Oculodentodigital Dysplasia |
|
Median cleft lip, Ventricular septal defect, Abnormal dental enamel morphology, Premature loss of... |
ORPHA:2710 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced ... |
OMIM:301040 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Deep philtrum, Flexion cont... |
OMIM:309520 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Umbilical hernia, Dry skin |
OMIM:274400 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Cleft palate, Fu... |
ORPHA:453499 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Exaggerated cupid's bow, Bicuspid aortic valve, Wide mouth, Macroglossia, High palate, Umbilical ... |
OMIM:614501 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Thin upper lip vermilion, Branchial fistula, Inguinal hernia, Ventricular s... |
ORPHA:261330 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfu... |
OMIM:105210 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cholestasis, Reduced number ... |
ORPHA:52 |
Degcags Syndrome |
|
Polyhydramnios, High palate, Pallor, Atrial septal defect, Diaphragmatic eventration, Patent fora... |
OMIM:619488 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,... |
OMIM:614609 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Aganglionic megacolon |
OMIM:235750 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Telangiectasia of the skin, Venous malformation, Edema |
ORPHA:75508 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Scapular winging, Redundant skin, Hypoplasia of the m... |
OMIM:278250 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Villous atrophy, Ventricular septal defect, Polyhydramnios, N... |
OMIM:222470 |
Beckwith-Wiedemann Syndrome |
|
Redundant skin, Polyhydramnios, Cardiomegaly, Congenital diaphragmatic hernia, Leiomyosarcoma, He... |
ORPHA:116 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Inguinal hernia, Ventricular septal defect, Heart murmur, Abnormal vena cava morphology, Intraute... |
ORPHA:166035 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Carious teeth, Velopharyngeal insufficiency, Patent ductus arteriosus,... |
OMIM:613680 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:269700 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Anteriorly placed anus... |
OMIM:617159 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, Smooth p... |
OMIM:616730 |
Multiple Pterygium Syndrome, Lethal Type |
|
Polyhydramnios, Edema, Flexion contracture, Cleft palate, Amyoplasia, Hypoplastic heart, Pulmonar... |
OMIM:253290 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Orofacial cleft, Hepatic fibr... |
OMIM:615630 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
Omodysplasia 1 |
|
Ventricular septal defect, Short neck, Pulmonary artery stenosis, Long philtrum, Atrial septal de... |
OMIM:258315 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Abnormal mesentery morphology, Ventricular septal defect, Polyhydramnios |
ORPHA:2256 |
Nicolaides-Baraitser Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Inguinal hernia, Recurrent respiratory infections, Sho... |
OMIM:601358 |
Carpenter Syndrome 2 |
|
Diaphragmatic eventration, Tricuspid regurgitation, Dextrocardia, Short neck, Carious teeth, High... |
OMIM:614976 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Intrauterine ... |
OMIM:619909 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
High palate, Atrial septal defect, Ecchymosis, Long philtrum, Tricuspid regurgitation, Scarring, ... |
OMIM:601776 |
C Syndrome |
|
Omphalocele, Hepatomegaly, Ventricular septal defect, Accessory oral frenulum, Patent ductus arte... |
OMIM:211750 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature,... |
ORPHA:1101 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Pallor, Cholelith... |
OMIM:266200 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Stroke, Bacterial endocardit... |
ORPHA:1054 |
Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... |
ORPHA:1425 |
Tarp Syndrome |
|
Subdural hemorrhage, Tetralogy of Fallot, Cleft palate, Tongue nodules, Glossoptosis, High palate... |
OMIM:311900 |
Fucosidosis |
|
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Thick lower lip vermi... |
OMIM:230000 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Prolonged QT interv... |
ORPHA:26793 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Tented upper lip vermilion, Exaggera... |
ORPHA:261494 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Diastasis recti, Wide mouth, Long philtrum, Umbilical hernia, Open mout... |
OMIM:616638 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Carious teeth, High, narrow palate, Recur... |
ORPHA:33364 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pyloric stenosis, Patent ductu... |
OMIM:610443 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy... |
OMIM:265000 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Atrial septal defect, Redundant neck skin, Short lingual frenulum, Vent... |
OMIM:617360 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Short neck, Cleft palate, Mitral regurgitation, ... |
ORPHA:254346 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Cleft palate, High palate |
ORPHA:52055 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Stroke, Cho... |
OMIM:603903 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventricular septal defect, Aganglionic megacolon, Malabsorption, Patent ductus arteriosus, Exocri... |
ORPHA:452 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cholangitis, Edema, Short neck, Widely spaced teeth, High palate, Hepatic fibrosis, Microdontia, ... |
OMIM:266920 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:608594 |
Floating-Harbor Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Inguinal hernia, Short neck, Celiac disease, Cari... |
OMIM:136140 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic... |
OMIM:617450 |
Alg9-Cdg |
|
Villous atrophy, Short neck, Abnormal lung lobation, Hydrops fetalis, Right ventricular dilatatio... |
ORPHA:79328 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Narrow mouth, Abnormal lung lobation, Coarctatio... |
OMIM:614114 |
Shprintzen-Goldberg Syndrome |
|
Inguinal hernia, Camptodactyly of finger, High, narrow palate, Aplasia/Hypoplasia of the abdomina... |
ORPHA:2462 |
Schneckenbecken Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Short neck, Cleft palate, Stillbirth, Umbilical hernia |
OMIM:269250 |
Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Hyperparathyroidism, Transient Neonatal |
|
Inguinal hernia, Polyhydramnios, Patent ductus arteriosus, Stroke, Splenic cyst, Umbilical hernia... |
OMIM:618188 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Facial hypotonia, Cardiac conduction abnormality, Dehydration, Downturne... |
ORPHA:2131 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Pallor, Bone marrow hypocellularity |
ORPHA:75564 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Short neck, Thick lower l... |
ORPHA:870 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, High, narrow palate, Umbilical hernia |
ORPHA:2181 |
Senior-Loken Syndrome 8 |
|
Hepatic cysts, Pancreatic cysts, Pallor, Intrahepatic bile duct dilatation, Vascular dilatation |
OMIM:616307 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, High-output congestive heart fail... |
ORPHA:231222 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Cleft palate, Bile duct proli... |
OMIM:611134 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, ... |
ORPHA:464738 |
X Small Rings |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short neck, Aortic ro... |
ORPHA:96201 |
Woods Syndrome |
|
Thin vermilion border, Ventricular septal defect |
OMIM:615236 |
Pallister-Hall Syndrome |
|
Natal tooth, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Abnormal lung ... |
OMIM:146510 |
Gapo Syndrome |
|
Hepatomegaly, Prominent scalp veins, Redundant skin, Facial palsy, Retinal arteriolar tortuosity,... |
OMIM:230740 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Severe periodontitis, Palpebral edema, Scarring, Protruding tongue, Deep philtrum, ... |
ORPHA:99843 |
Aase-Smith Syndrome I |
|
Open mouth, Flexion contracture, Ventricular septal defect, Cleft palate |
OMIM:147800 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Scapular winging, Dental crowding, Ventricular septal defect, Patent du... |
OMIM:617061 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Deep philtrum, Cleft... |
ORPHA:404440 |
Tempi Syndrome |
|
Transudative pleural effusion, Facial erythema, Intracranial hemorrhage, Telangiectasia, Abnormal... |
ORPHA:284227 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Flexion contracture, Abnormal dental enamel morphology, Umbilical he... |
ORPHA:666 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Ventricular septal defect, Lipodys... |
OMIM:270450 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Abnormality of the dentition, Abn... |
ORPHA:349 |
Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Atrial septal defect, Microdontia, P... |
OMIM:194050 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Pallor, Ecc... |
ORPHA:824 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Edema, Splenomegaly, Jaundice, Enterocolitis, Decreased liver function... |
ORPHA:90051 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Cleft upper... |
OMIM:164210 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal art... |
ORPHA:51608 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Dermal translucency, Inguinal hernia, Congenital diaphragmatic hernia, Arterial tortuosity, Emphy... |
OMIM:614437 |
Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, Short neck, High, narrow palate, Elbow flexion contracture, Knee flexion contractur... |
OMIM:613776 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Short neck, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, ... |
ORPHA:3338 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Meningocele, Cleft palate, ... |
OMIM:614424 |
Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Arterial dissection, Abnormality of the dentition, Malabsorption, Venous insuffi... |
ORPHA:285 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrops fetalis, Tracheoesophageal fi... |
ORPHA:268249 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, Short neck, Flexion contracture, High palate... |
OMIM:617452 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Hepatomegaly, Jaundice, Pallor |
OMIM:615631 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Recurrent pneumonia, Clef... |
OMIM:616449 |
Trisomy 20P |
|
Smooth philtrum, Inguinal hernia, Camptodactyly of finger, Spina bifida, Abnormality of the denti... |
ORPHA:261318 |
Doors Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Polyhydramnios, Abnormality of the dentition, T... |
ORPHA:79500 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cleft lip, Cleft palate, Abdominal situs inversus, Pulmonic ... |
OMIM:619123 |
Lambotte Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Narrow mouth |
OMIM:245552 |
Infection-Related Hemolytic Uremic Syndrome |
|
Generalized edema, Hypertensive crisis, Pneumonia, Edema, Intestinal perforation, Myocarditis, Re... |
ORPHA:544482 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Congenital diaph... |
OMIM:612530 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Prune belly, Ventricular septal defect, Increased overbite |
OMIM:618504 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Facial hypotonia, Short neck, Thin vermilion border, Webbed neck, Long... |
ORPHA:85194 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Cleft palate |
OMIM:243440 |
Arthrogryposis Multiplex Congenita 5 |
|
Inguinal hernia, Cardiac arrest, Polyhydramnios, Short neck, Flexion contracture, Elbow flexion c... |
OMIM:618947 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Wide mouth, Thin vermilion border, T... |
ORPHA:217346 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Polyhydramnios, Short neck, Dental malocclusion, Wide mouth, Thick ver... |
OMIM:610733 |
Scleromyxedema |
|
Abnormal coronary artery morphology, Transient ischemic attack, Raynaud phenomenon, Abnormal lung... |
ORPHA:167635 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Conical tooth, Short philtrum, High palate, Atrial septal defect... |
OMIM:135900 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula |
OMIM:619083 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Ventricular septal defect, Foot joint contracture, Short neck, Dental malocclusi... |
ORPHA:444072 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Patent ductus arteri... |
ORPHA:457193 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Jau... |
OMIM:613404 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Cleft upper lip, Conical tooth, Patent ductu... |
OMIM:106260 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Recurrent pneumonia, High palate... |
OMIM:300472 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Inguinal hernia, Abnormal cardiac ventricular function, Red... |
ORPHA:90349 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... |
OMIM:619705 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... |
OMIM:616331 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Deep philtrum, Everted lowe... |
OMIM:613884 |
Kury-Isidor Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Short neck, High palate, Widely spaced tee... |
OMIM:619762 |
Mesomelia-Synostoses Syndrome |
|
Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Abnormal oral frenulum morpho... |
ORPHA:2496 |
Weaver Syndrome |
|
Inguinal hernia, Diastasis recti, Patent ductus arteriosus, Cutis laxa, Long philtrum, Umbilical ... |
OMIM:277590 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Cleft palate, Pulmonary arterial hypertension, Thick vermilion border,... |
ORPHA:447980 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... |
OMIM:175050 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Tooth agenesis,... |
OMIM:605676 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Cleft ... |
OMIM:605039 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Thymic Carcinoma |
|
Mediastinal lymphadenopathy, Abnormal vena cava morphology, Palpebral edema, Edema |
ORPHA:99868 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Inguinal hernia, Dental crowding, Spontaneou... |
ORPHA:558 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Cleft palate, Atrial septal defect, Patent foramen ovale, Right ventri... |
OMIM:614261 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Bilobate gallbladder, Polyhydramnios, Short neck, Anteriorly placed anus,... |
OMIM:261540 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Narrow philtrum, P... |
OMIM:619268 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Tented upper lip vermilion, Ventricular septal defec... |
OMIM:615673 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, P... |
ORPHA:2519 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Limb joint contracture, Short neck, High pal... |
ORPHA:505237 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, High palate, Atrial septal defect, Spina bifida occulta, Bifid u... |
OMIM:300373 |
Scarf Syndrome |
|
Inguinal hernia, Diastasis recti, Short neck, Cutis laxa, Webbed neck, Umbilical hernia, Enamel h... |
OMIM:312830 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, High palate, Pallor |
OMIM:600462 |
Evans Syndrome |
|
Epistaxis, Jaundice, Syncope, Pallor, Petechiae |
ORPHA:1959 |
Gorlin-Chaudhry-Moss Syndrome |
|
Patent ductus arteriosus, Umbilical hernia, Oligodontia, Abnormality of the dentition |
ORPHA:2095 |
Jacobsen Syndrome |
|
Smooth philtrum, Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, In... |
ORPHA:2308 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Polyhydramnios, Short neck, Hydrops fetalis, Fused teeth, High palate, Widely spaced... |
OMIM:613610 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g... |
OMIM:619259 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Short neck, Card... |
ORPHA:77301 |
Vacterl/Vater Association |
|
Omphalocele, Occipital encephalocele, Polyhydramnios, Congenital diaphragmatic hernia, Abnormalit... |
ORPHA:887 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Inguinal hernia, Flexion contracture, Submucous cleft hard palate, High palate, Tetralogy of Fallot |
OMIM:222765 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Psoriasiform dermatitis, Palpebral edema, Thin lower lip vermilion, Arteria lusoria, B lymphocyto... |
ORPHA:221139 |
Chime Syndrome |
|
Abnormal dental morphology, Ventricular septal defect, Abnormality of the dentition, Supernumerar... |
ORPHA:3474 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Dextrocardia, Short neck, High, narrow palate, Abnormality of dental e... |
ORPHA:96092 |
Kniest Dysplasia |
|
Hip contracture, Inguinal hernia, Short neck, Cleft palate, Umbilical hernia |
OMIM:156550 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Patent ductus... |
ORPHA:1790 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Umbilical hernia, Inguinal hernia |
ORPHA:2196 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subcutaneous lipoma, Lipoma, Subvalvular aortic stenosis, Atrial septa... |
OMIM:613001 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary arter... |
OMIM:100300 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Umbilical hernia, Dry skin, Prolonged neonatal jaundice |
ORPHA:95715 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Thin upper lip vermilion, Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Spl... |
OMIM:610199 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Reduced number of intrahepa... |
ORPHA:79284 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Abnormal cerebral vein morpho... |
ORPHA:60015 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Periodontitis, Ecchymosis, Emphysema, Premature loss of teeth,... |
OMIM:130050 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Ventricular septal defect, Pulmonary hypoplasia, Long philtrum |
OMIM:617895 |
Joint Laxity, Short Stature, And Myopia |
|
Umbilical hernia, Inguinal hernia |
OMIM:617662 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Polyhydramnios, Short neck, High palate, Wrist flexion contracture, Purs... |
ORPHA:800 |
Thoracic Outlet Syndrome |
|
Varicose veins, Edema |
ORPHA:97330 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Aortic regurgitation, Polyhydramnios, Rhabdomyosarcoma, Increased nuchal tr... |
ORPHA:1052 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Chops Syndrome |
|
Ventricular septal defect, High, narrow palate, Splenomegaly, Patent ductus arteriosus, Anomalous... |
OMIM:616368 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Psoriasiform dermatitis, Ventricular septal defect, Intestinal malrotation, Polyhydr... |
ORPHA:436252 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... |
OMIM:618748 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Non-midline cleft lip, Abnormality of the gallbladder, Abnormal ... |
ORPHA:2075 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Webbe... |
OMIM:609942 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Ectopic... |
ORPHA:2473 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial f... |
OMIM:253800 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Edema, Myocardial infarction, Periorbital edema, Inflammatory myo... |
ORPHA:221 |
Pallister-Hall Syndrome |
|
Natal tooth, Inguinal hernia, Ventricular septal defect, Accessory oral frenulum, Cleft lip, Pate... |
ORPHA:672 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, High, narrow palate, Hepatic calcification, Cardiomyopat... |
ORPHA:228308 |
Livedoid Vasculopathy |
|
Abnormal capillary morphology, Telangiectasia of the skin, Venous insufficiency, Pedal edema, Ski... |
ORPHA:542643 |
Codas Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental morphology, Abnormal dental... |
ORPHA:1458 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect,... |
OMIM:610759 |
3Mc Syndrome 1 |
|
Omphalocele, Conjunctival telangiectasia, Dental crowding, Ventricular septal defect, Diastasis r... |
OMIM:257920 |
Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, High, narrow palate, Wide m... |
OMIM:619312 |
Mgat2-Cdg |
|
Ventricular septal defect, Dental crowding, Patent ductus arteriosus, Hydrops fetalis, Abnormal h... |
ORPHA:79329 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Swollen lip, Short neck, Neonatal death, Patent foramen ovale, Spina bifida, Clef... |
OMIM:256520 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch |
OMIM:230900 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... |
OMIM:609192 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Edema, Dehydration, Hypertension, Pallor, Hypotension |
ORPHA:134 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Inguinal hernia, Elbow contracture, Umbilical hernia, Nemaline bodies, Intrauterine growth retard... |
OMIM:620275 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Delayed eruption of permanent teeth, Ventricular septal defect, Ca... |
OMIM:113000 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Eosinop... |
ORPHA:464 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Excessive wrinkled skin, Arteriovenous malformation, Congestive heart failure |
ORPHA:137608 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Short neck, Lymphedema, High, narrow palate, Patent ductus arteriosus,... |
OMIM:163950 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep philtrum, Encephaloc... |
ORPHA:2162 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Aganglionic megacolon, Short neck, Abnormality of the... |
ORPHA:798 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Telangiectasia of the skin, Abnormality of the dentition, Thick lower lip vermilion, Dental maloc... |
ORPHA:85321 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Polyhydramnios, Cardiomegaly, High, narrow palate, Hydrops fetalis, Broad se... |
ORPHA:3472 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Diastema, Carious te... |
OMIM:244450 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Ventricular septal defect, Cleft soft palate, Polyhydramnios, Carious teeth, Cleft... |
OMIM:117650 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Intrauterine growth retardation, Flexion contracture, Ventricular septal defect, Recurrent aspira... |
ORPHA:79243 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Lipoatrophy, Cardiomegaly, ... |
ORPHA:51 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Pallor, Palpitations, Positive regitine blocking t... |
ORPHA:276621 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Abnormality of the pancreas, Cleft palate, Narrow palate, Anteriorly placed anus, Tooth agenesis,... |
ORPHA:1555 |
Genetic Transient Congenital Hypothyroidism |
|
Macroglossia, Umbilical hernia, Edema, Prolonged neonatal jaundice |
ORPHA:226316 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia |
ORPHA:90673 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Aganglionic megacolon, Perianal erythema, Recurrent upper respirato... |
OMIM:308205 |
Kleefstra Syndrome 1 |
|
Natal tooth, Recurrent respiratory infections, Protruding tongue, Persistence of primary teeth, C... |
OMIM:610253 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Inguinal hernia, Ventricular septal defect, Elbow contracture, Short neck, Elbow... |
OMIM:178110 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Atrial septal defect, Ventricular septal def... |
ORPHA:1465 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... |
OMIM:619573 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Hi... |
ORPHA:2463 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Facial palsy, Congenital diaphragmatic hernia, Cleft lip, Cleft palate,... |
OMIM:301022 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Abnormal ... |
OMIM:227646 |
Tolchin-Le Caignec Syndrome |
|
Diastasis recti, Submucous cleft hard palate, Cardiac rhabdomyoma, High palate, Narrow mouth, Umb... |
OMIM:618971 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital muscular torticollis, Bicuspid aortic valve, Ventricular sep... |
ORPHA:457279 |
Restrictive Dermopathy |
|
Multiple joint contractures, Polyhydramnios, Scaling skin, Atrial septal defect, Patent ductus ar... |
ORPHA:1662 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Pall... |
ORPHA:263455 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Tachycardia, Pallor, Congestive heart failure |
ORPHA:90037 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor, Lymphadenopathy |
ORPHA:56425 |
H Syndrome |
|
Psoriasiform dermatitis, Lipodystrophy, Malabsorption, Cleft upper lip, Recurrent pharyngitis, Ab... |
ORPHA:168569 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Asplenia, Lobulated tongue, Accessory spleen, Malformation o... |
OMIM:249000 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Dental crowding, Ventricular septal defect, Polyhydramnios, Splenomegaly, Patent du... |
OMIM:618268 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Carious teeth, Narrow mouth, Thin vermilion border, Apla... |
ORPHA:96097 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Anemic pallor, Flexion contracture, Bone marrow hypocellularity, Intra... |
OMIM:227645 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Facial hypotonia, Cardiomegaly, Cleft lip, Bilateral wrist flex... |
ORPHA:97297 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia, Dry skin |
ORPHA:90674 |
Microform Holoprosencephaly |
|
Tented upper lip vermilion, Cleft palate, Orofacial cleft, Short philtrum, Solitary median maxill... |
ORPHA:280200 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Palpebral edema, Lymphedema, Patent ductus arteriosus, Dental malocclu... |
OMIM:606232 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Ventricula... |
OMIM:608670 |
Dent Disease 2 |
|
Umbilical hernia, Elevated circulating alanine aminotransferase concentration, Elevated circulati... |
OMIM:300555 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Thin vermilion border, Long philtrum, Umbilical hernia, Dentinogenesis i... |
OMIM:614856 |
Roifman-Chitayat Syndrome |
|
Umbilical hernia, Thin lower lip vermilion, Pneumonia, Short neck |
OMIM:613328 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Sotos Syndrome |
|
Atrial septal defect, Ventricular septal defect, High, narrow palate, Muscular ventricular septal... |
OMIM:117550 |
Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:3380 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Short neck, Deep philtrum, Cleft palate,... |
ORPHA:251038 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Pallor |
OMIM:272800 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Erythema, Retinal hemorrhage, Cornea... |
OMIM:614653 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Dermal translucency, Inguinal hernia, Redundant neck skin, Redundant skin, ... |
ORPHA:90348 |
Marfan Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Incisional hernia, Flexion contrac... |
OMIM:154700 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Skeletal muscle atrophy, Eosinophilia, Cheilitis, Pallor, Gloss... |
ORPHA:90045 |
Thauvin-Robinet-Faivre Syndrome |
|
Inguinal hernia, Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Var... |
OMIM:617107 |
Trisomy 8P |
|
Multiple joint contractures, Abnormal atrioventricular connection, Short neck, Malrotation of sma... |
ORPHA:264450 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... |
ORPHA:352665 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, F... |
OMIM:619306 |
Filippi Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Thin vermilion border, Short philtrum |
ORPHA:3255 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Cleft palate, Skeletal muscle hypertrophy, High palate, Intrauterine g... |
OMIM:617164 |
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 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Patent... |
OMIM:613309 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Flexion contracture, Short p... |
ORPHA:261537 |
Myhre Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Short neck, Pericardial effusion, Cleft lip,... |
OMIM:139210 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... |
ORPHA:79280 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Spina bifida occulta, T... |
OMIM:301030 |
Fryns Syndrome |
|
Tented upper lip vermilion, Ectopic pancreatic tissue, Polyhydramnios, Short neck, Atrial septal ... |
OMIM:229850 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor, Retinal hemorrhage, Pedal edema, Palpitations, Bone marrow hypocellularity |
ORPHA:86839 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Edema of the dorsum of feet, Polyhydramnios, Short neck, Congenital d... |
OMIM:601803 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Dehydration, Periodontitis, Abnormal dental enamel mo... |
ORPHA:534 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Mitral valve calcification, Recurrent respiratory infections, Cardiomeg... |
OMIM:182250 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Tented upper lip vermilion, Patent... |
OMIM:614961 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Pallor |
ORPHA:90033 |
Branchioskeletogenital Syndrome |
|
Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Short neck, Submucous cleft... |
ORPHA:1299 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Hepatic fibrosis, Hamartoma of tongue, Cleft upper lip, Supernumer... |
OMIM:311200 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Ventricular s... |
OMIM:263520 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Flexion contracture, Short p... |
ORPHA:261552 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Carious teeth, Oligohy... |
OMIM:619229 |
Myopathy, Mitochondrial, And Ataxia |
|
Multiple lipomas, Distal amyotrophy, High palate, Pallor, Increased variability in muscle fiber d... |
OMIM:617675 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, Limb hypertonia |
OMIM:620306 |
Sotos Syndrome |
|
Hip contracture, Inguinal hernia, Aganglionic megacolon, Ventricular septal defect, Ankle flexion... |
ORPHA:821 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect, Tracheoesophageal fistula |
ORPHA:77298 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Umbilical hernia, High palate, Bone marrow hypocellularity |
OMIM:614520 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Abnormal oral mucosa ... |
ORPHA:289 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Wide mouth, Mitral regurgitation, Thick vermil... |
ORPHA:261250 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Microvesicul... |
OMIM:619418 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Aortic regurgitation, Tricuspid regurgitation, Ven... |
OMIM:614866 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Icf Syndrome |
|
Recurrent respiratory infections, Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia |
ORPHA:2268 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Open mouth, Hypoplastic aortic arch, Facial hypotonia, Inguinal hernia |
ORPHA:457284 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Abnormality of the spleen, Splenome... |
ORPHA:2072 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... |
OMIM:620024 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Hepatosplenomegaly |
OMIM:611590 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Pr... |
OMIM:214100 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Camptodactyly of fi... |
ORPHA:261236 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... |
ORPHA:79345 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Elbow contracture, Spina bifida, Short neck, Cleft palate, Stillbirth, Narrow mouth,... |
OMIM:304120 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption,... |
OMIM:557000 |
Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Tented upper lip vermilion, Ventricular septal de... |
OMIM:613458 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Eosinophilia, Lymphadenitis, ... |
ORPHA:331206 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
Rere-Related Neurodevelopmental Syndrome |
|
Intrauterine growth retardation, Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Ventricular septal defect, Con... |
ORPHA:96121 |
Early Infantile Epileptic Encephalopathy |
|
Umbilical hernia, Ventricular septal defect, Cleft palate |
ORPHA:1934 |
Amme Complex |
|
Thin upper lip vermilion, Inguinal hernia, Diastasis recti, Umbilical hernia, Intrauterine growth... |
OMIM:300194 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Contractures of the large joints, Recurrent upper respiratory tract infections, Ventricular septa... |
ORPHA:3078 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Narrow mouth, Patent ductus arteriosus, Macroglossia,... |
OMIM:613457 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor |
OMIM:246450 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Umbilical hernia, Inguinal hernia, Short neck |
ORPHA:3218 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Pallor, Palpitations, Positive regitine blocking t... |
ORPHA:29072 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Atrial septal defect, Enlarged ovaries, Dental crowding, Ven... |
ORPHA:769 |
Okamoto Syndrome |
|
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventric... |
ORPHA:2729 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Camptodac... |
ORPHA:261337 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Thin upper lip vermilion, Bicuspid aortic valve, Truncus arteriosus, Ventri... |
ORPHA:508498 |
Familial Visceral Myopathy |
|
Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:2604 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Dental crowding, Ventricular septal defect, Abnormality of t... |
ORPHA:251028 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Tetralogy of ... |
OMIM:118450 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Eosinophilia, Spina bifida, Edema of the ... |
OMIM:274000 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Narrow palate, Mitral regurgitation, Aortic ... |
OMIM:277600 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... |
ORPHA:54028 |
Limb Body Wall Complex |
|
Encephalocele, Thoracoabdominal wall defect, Ventral hernia, Ventricular septal defect, Diastasis... |
ORPHA:2369 |
Smith-Lemli-Opitz Syndrome |
|
Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Abnormal lung lobation, Atrial septa... |
ORPHA:818 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Dental crowding, Short nec... |
OMIM:268310 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Dilatation ... |
ORPHA:459070 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Eosinophilia, Peptic ulcer, Splenomegaly, Lymphadenopathy, Syncope, Pa... |
ORPHA:98849 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cleft lip, Cleft palate, Hepatosplenomegaly, Umbilical hernia, Everted lower lip ve... |
OMIM:301066 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon... |
ORPHA:209905 |
Autosomal Dominant Robinow Syndrome |
|
Inguinal hernia, Median cleft lip and palate, Femoral hernia, Camptodactyly of finger, Short neck... |
ORPHA:3107 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Ventricular septal defect, Protruding tongue, Diastema, Short neck, Gingival overgro... |
OMIM:212066 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi... |
ORPHA:1393 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect |
OMIM:616901 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hematochezia, S... |
OMIM:619575 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Median cleft lip, Accessory oral frenulum, Polyhydramnios, Splenomegaly, Supernumer... |
OMIM:617088 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Short neck, Hig... |
OMIM:607721 |
Zellweger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Malabsorption, Pyloric stenosis, Jaundice, Abnormality o... |
ORPHA:912 |
Craniofrontonasal Syndrome |
|
Congenital diaphragmatic hernia, Abnormality of the dentition, Short neck, Cleft upper lip, Cleft... |
OMIM:304110 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Polyhydramn... |
ORPHA:3047 |
Hereditary Hyperekplexia |
|
Umbilical hernia, Hernia, Esophagitis, Hiatus hernia |
ORPHA:3197 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Facial hypotonia, Pneumonia, Short neck, Hepatosplenomegaly, Macroglossia, ... |
ORPHA:309282 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Capillary malformation of the lip, Venous malformation, Lymphedema |
OMIM:613089 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Den... |
OMIM:180700 |
Teebi-Shaltout Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Camptodact... |
OMIM:272950 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... |
ORPHA:70591 |
9P13 Microdeletion Syndrome |
|
Umbilical hernia, Dry skin, High palate |
ORPHA:324313 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Short neck, Widely spaced teeth, High palate, Atrial septal defect, Microd... |
OMIM:612474 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Hepatic steatosis |
ORPHA:348 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Abnormal heart morphology |
OMIM:600901 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Thin upper lip vermilion, At... |
OMIM:301044 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Esophageal atresia, Deep philtrum, Cleft palate, Atrial septal defect |
OMIM:610536 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Open bite, Splenomegaly, Venous insufficiency, Bronchogenic cyst, Subcutaneou... |
ORPHA:2969 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Pallor... |
ORPHA:91347 |
Costello Syndrome |
|
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Short neck, Rhabdomyosarcoma, Pyl... |
OMIM:218040 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, ... |
OMIM:122470 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology |
ORPHA:1782 |
Larsen Syndrome |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Hypodontia, Atrial septal defect, Intra... |
OMIM:150250 |
Irida Syndrome |
|
Intrahepatic cholestasis, Abnormal intestine morphology, Pallor |
ORPHA:209981 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Short neck, Carious teeth, Pulmonary arterial medial hypertrophy, Elbow flexion cont... |
OMIM:601559 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Short neck, Cleft ... |
OMIM:617925 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Camptodactyly of finger, Redundant skin, Wide mouth, Excessive wrinkled skin, Thin v... |
ORPHA:920 |
Whim Syndrome |
|
Abnormal small intestine morphology, Severe periodontitis, Pneumonia, Respiratory tract infection... |
ORPHA:51636 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... |
ORPHA:42775 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Pulmonary hypoplasia, Polyhydramnios |
OMIM:615503 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Short neck, High, narrow palate, Webbed... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Short neck, High, narrow palate, Webbed... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Short neck, High, narrow palate, Webbed... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Short neck, High, narrow palate, Webbed... |
ORPHA:881 |
Keutel Syndrome |
|
Ventricular septal defect, Recurrent bronchitis, Deep philtrum, Hypertension, Pulmonary artery hy... |
OMIM:245150 |
Clapo Syndrome |
|
Varicose veins, Capillary malformation of the lip, Venous malformation, Lymphedema |
ORPHA:168984 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Abnormal heart morphology |
OMIM:227650 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Cardiomegaly, Adipose tissue loss, Flexion contracture, Loss of facial a... |
OMIM:256040 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Ventricular septal defect, Short neck, Recurrent pneumonia, High palate... |
OMIM:620330 |
Renal Agenesis |
|
Ventricular septal defect, Hypertension, Pulmonary hypoplasia, Anal atresia, Oligohydramnios |
ORPHA:411709 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Inguinal hernia, Ventricular septal defect, Shortened PR interval... |
OMIM:614947 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abnormal tongue morphology, Cervical ... |
ORPHA:653 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Short neck, Deep philtrum, C... |
ORPHA:251014 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Microvesic... |
OMIM:618278 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Umbilical hernia, Oligodontia, Bilateral camptodactyly, Smooth philtrum |
OMIM:619234 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Ventricular septal defect, Abnormality of the dent... |
ORPHA:193 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... |
OMIM:142900 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Ab... |
OMIM:617140 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Edema, Rectal polyposis, Adenomato... |
ORPHA:329971 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, C... |
OMIM:130650 |
Codas Syndrome |
|
Delayed eruption of teeth, Omphalocele, Ventricular septal defect, Polyhydramnios, Rectovaginal f... |
OMIM:600373 |
Letterer-Siwe Disease |
|
Stomatitis, Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Striae distensae, Dental crowding, Hiatus hernia, Vertebral artery to... |
OMIM:619329 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Elevated... |
OMIM:619525 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Pallor, Gingival bleeding, Melena |
ORPHA:98870 |
Loeys-Dietz Syndrome |
|
Striae distensae, Camptodactyly of finger, Cardiac arrest, Arterial tortuosity, Patent ductus art... |
ORPHA:60030 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Median cleft lip, Ventricular septal defect, Polyhydramnios, Compl... |
OMIM:236680 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Umbilical hernia, Smooth philtrum |
ORPHA:1778 |
Unilateral Polymicrogyria |
|
Stroke, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology |
ORPHA:268943 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve pro... |
ORPHA:500095 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Upper limb muscle hypoplasia, Ventricular septal defect, Aganglionic megacolon, Fa... |
OMIM:607323 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Thin upper lip vermilion, Abnormal cardiac ventricular function, Tricuspid regurgitation, Dental ... |
ORPHA:466791 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Distal lower limb amyotrophy, Dupuytren contracture, Upper limb amyotrophy, Varicose veins, Leg m... |
ORPHA:100991 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Cl... |
OMIM:617063 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Pyloric stenosis, Aplasia of the pectoralis m... |
ORPHA:3138 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
Constricting Bands, Congenital |
|
Omphalocele, Encephalocele, Cleft upper lip, Abnormal lung lobation, Cleft palate, Gastroschisis,... |
OMIM:217100 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Tracheoesophageal fistula, Recto... |
OMIM:107480 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Tented upper lip vermilion, Ventricular septal defect, Diastasis recti, ... |
ORPHA:488632 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Myelopathy, Cervical myelopathy, Arteriovenous fistula, Distal lowe... |
ORPHA:79093 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Atrial septal defect, Hypo... |
OMIM:243800 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect, Short neck |
OMIM:620073 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Paten... |
ORPHA:464311 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... |
ORPHA:1071 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Ventricular septa... |
ORPHA:2461 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Short neck, Oligodontia, ... |
OMIM:609460 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic hernia, Cleft upper li... |
OMIM:154400 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Umbilical hernia, Inguinal hernia, Esophagitis, Intrauterine growth retardation |
ORPHA:79351 |
Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Short neck, Muscular ve... |
OMIM:210710 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Downturned corners of mouth, Short philtrum, Atrial septal defect,... |
OMIM:616268 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Abnormal lung lobation, Atrial septal defect, Hepatic steatosis, Bifid uvula, He... |
OMIM:270400 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, He... |
ORPHA:14 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
3Mc Syndrome |
|
Diastasis recti, Orofacial cleft, Downturned corners of mouth, Umbilical hernia, Spina bifida occ... |
ORPHA:293843 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Eosinophilia, Scarring, Conical tooth, Erythema, Retinal hemorrhage, O... |
OMIM:308300 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect, Short neck |
OMIM:610832 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Congestive heart failure, Patent ductus arte... |
ORPHA:444077 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Brittle Cornea Syndrome 2 |
|
Umbilical hernia, Inguinal hernia |
OMIM:614170 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Abnormal heart valve morphology, Camptodactyly of finger, Pyloric stenosis,... |
ORPHA:1606 |
Endove Syndrome, Limb-Brain Type |
|
Umbilical hernia |
OMIM:619218 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Cleft lip, Patent ductus arteriosus, Furrowed tongue, High palate, Bro... |
OMIM:616975 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Short neck, Dental malocclusion, Mitral valve prolapse, Taurodontia, M... |
OMIM:616202 |
Neuroocular Syndrome |
|
Scapular winging, Patent foramen ovale, Short uvula, Submucous cleft hard palate, Downturned corn... |
OMIM:619539 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... |
OMIM:616682 |
Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Macrodontia, Ventricular septal defect, Situs inversus totalis, Cleft p... |
OMIM:309500 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Spinal dysraphism, Webbed neck, Lipoma, Venous malformation |
OMIM:612918 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Hypoplasia of teeth |
OMIM:234050 |
Hyperekplexia 1 |
|
Umbilical hernia, Inguinal hernia |
OMIM:149400 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Cleft lip, Long neck, Dysplastic tricuspid valve, Cleft palate, Abnorm... |
ORPHA:1724 |
Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... |
ORPHA:93930 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog... |
ORPHA:449395 |
Imerslund-Gräsbeck Syndrome |
|
Pallor, Tachycardia, Glossitis, Angular cheilitis |
ORPHA:35858 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly |
ORPHA:300298 |
Osteogenesis Imperfecta, Type Xviii |
|
Umbilical hernia, Abnormality of the dentition |
OMIM:617952 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... |
OMIM:606721 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Ventricular septal defect, Pulmonary artery sli... |
OMIM:235730 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Short neck, Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia |
ORPHA:226307 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Cleft palate, Pulmonic sten... |
OMIM:134780 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Short neck, Supernumerar... |
ORPHA:434179 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Pyloric stenosis, P... |
ORPHA:464306 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Short neck, Pyloric stenosis, Flexio... |
OMIM:147791 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Cleft palate, Thick vermilion border, Umbilical hernia, Emphysema |
OMIM:616835 |
Adnp Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Thick lower lip vermilion, Recurrent upper respiratory... |
ORPHA:404448 |
Non-Functioning Pituitary Adenoma |
|
Increased intraabdominal fat, Pallor, Hypotension |
ORPHA:91349 |
Pauci-Immune Glomerulonephritis |
|
Purpura, Oral ulcer, Arteritis, Abnormality of the pulmonary vasculature, Small vessel vasculitis... |
ORPHA:93126 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
Aregenerative Anemia |
|
Pallor, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Mediastinal lymphadenopathy... |
ORPHA:97289 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Wide mouth, Ventricular septal defect, Intestinal malrotation, Duodenal atresia |
OMIM:617798 |
Martin-Probst Syndrome |
|
Thick lower lip vermilion, Dental malocclusion, Telangiectasia, Wide mouth, Umbilical hernia |
OMIM:300519 |
Endove Syndrome, Limb-Only Type |
|
Umbilical hernia |
OMIM:619217 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct... |
OMIM:192350 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Double inlet left ventricle, Thin vermilion border, High palate, Atrial... |
OMIM:619869 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Omphalocele, Inguinal hernia, Intestinal malrotation, Congenital diaph... |
OMIM:305600 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdo... |
ORPHA:358 |
Aspartylglucosaminuria |
|
Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Abnormality of the dentition, Ca... |
ORPHA:93 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, High, narrow palate, Short philtrum, High palate, Hepatic steatosis, Thick... |
OMIM:619475 |
Menke-Hennekam Syndrome 1 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Inguinal hernia, Deep philtrum, Flexion co... |
OMIM:618332 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation... |
OMIM:143095 |
Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Pallor, Bradycardia, Dry skin |
ORPHA:91355 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... |
ORPHA:506 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Multiple lipomas,... |
ORPHA:276280 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Lacunar stroke, Varicose veins, Stroke, Vascular granular osmiophilic material deposition |
OMIM:125310 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Recurrent respiratory infections, Abnormal dental morphology, Bicuspid aorti... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Recurrent respiratory infections, Abnormal dental morphology, Bicuspid aorti... |
ORPHA:363958 |
Acromesomelic Dysplasia 4 |
|
Umbilical hernia, Third degree atrioventricular block |
OMIM:619636 |
Pituitary Apoplexy |
|
Hypertension, Pallor, Hypotension |
ORPHA:95613 |
Cohen-Gibson Syndrome |
|
Umbilical hernia, Patent ductus arteriosus, Flexion contracture, Camptodactyly |
OMIM:617561 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Cleft lip, ... |
OMIM:615948 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Thick vermilion border |
OMIM:250410 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Venous insufficiency, High, narrow pala... |
ORPHA:198 |
Fraser Syndrome |
|
Encephalocele, Omphalocele, Anal stenosis, Dental crowding, Cleft upper lip, Myelomeningocele, De... |
ORPHA:2052 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Cleft soft palate, Abnormal pul... |
ORPHA:268261 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Keloids, Varicose veins, Torticollis |
OMIM:314300 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... |
ORPHA:71273 |
Kabuki Syndrome 1 |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Abnormality of the dentition, M... |
OMIM:147920 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Umbilical hernia, Bradycardia, Dry skin |
OMIM:218700 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Ventricular septal defect, Short neck, Flexion contracture, Cleft palate, ... |
OMIM:271640 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Thyroid Ectopia |
|
Macroglossia, Jaundice, Umbilical hernia |
ORPHA:95712 |
Monosomy 22Q13.3 |
|
Dental crowding, Palpebral edema, Lymphedema, Dental malocclusion, Umbilical hernia |
ORPHA:48652 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ventricular septal defect, Polyhydramnios, Cleft upper lip, Short neck, Ankle f... |
OMIM:268300 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Deep philtrum, Anomalous orig... |
ORPHA:438213 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Decreased muscle mass, Ventricular septal defect, Cleft upper lip, Malrotation ... |
OMIM:194190 |
Microphthalmia, Syndromic 3 |
|
Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:206900 |
Penile Agenesis |
|
Ventricular septal defect, Cloacal abnormality, Rectal fistula, Tracheoesophageal fistula, Bilate... |
ORPHA:49 |
Hyperlysinemia |
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Pulmonary artery hypoplasia, Recurrent pneumonia, High palate, Smooth philtrum |
ORPHA:2203 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... |
ORPHA:363700 |
Microphthalmia With Limb Anomalies |
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Macrodontia, Cleft upper lip, Venous insufficiency, Cleft palate, Thin vermilion border, High pal... |
ORPHA:1106 |
Varicose Veins |
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Varicose veins |
OMIM:192200 |
Yunis-Varon Syndrome |
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Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Premature loss of prima... |
OMIM:216340 |
Tetraamelia Syndrome 1 |
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Congenital diaphragmatic hernia, Cleft upper lip, Asplenia, Peripheral pulmonary vessel aplasia, ... |
OMIM:273395 |
Glomuvenous Malformation |
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Gastrointestinal arteriovenous malformation, Oral mucosa nodule, Arteriovenous malformation, Veno... |
ORPHA:83454 |
Proboscis Lateralis |
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Ventricular septal defect, Agenesis of canine, Patent ductus arteriosus, Orofacial cleft, High pa... |
ORPHA:141099 |
Cornelia De Lange Syndrome |
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Delayed eruption of teeth, Ventricular septal defect, Intestinal malrotation, Congenital diaphrag... |
ORPHA:199 |
Mowat-Wilson Syndrome |
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Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Flexion contracture, Widely ... |
ORPHA:2152 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Pallor |
OMIM:616959 |
Craniotubular Dysplasia, Ikegawa Type |
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Ventricular septal defect, Thick lower lip vermilion, Thick upper lip vermilion, Long philtrum |
OMIM:619727 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Ventricular septal defect, Carious teeth, Patent ductus arteriosus, Downturned corners of mouth, ... |
OMIM:619522 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Everted lower lip vermilion, Pallor, Muscular dystrophy |
OMIM:253280 |
Ulnar-Mammary Syndrome |
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Anal stenosis, Inguinal hernia, Ventricular septal defect, Pyloric stenosis, Elbow flexion contra... |
OMIM:181450 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Hip contracture, Anal stenosis, Ventricular septal defect, Polyhydramn... |
OMIM:606170 |
Osteogenesis Imperfecta, Type Vii |
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Absent pulmonary artery, Dentinogenesis imperfecta, Hypoplastic pulmonary veins, Long philtrum |
OMIM:610682 |
Goodpasture Syndrome |
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Nodular pattern on pulmonary HRCT, Pallor, Hemosiderin-laden macrophages in bronchoalveolar fluid... |
OMIM:233450 |
Osteoporosis-Pseudoglioma Syndrome |
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Ventricular septal defect |
OMIM:259770 |
Familial Cerebral Cavernous Malformation |
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Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Norrie Disease |
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Venous insufficiency, Thin vermilion border |
ORPHA:649 |
Epilepsy, Familial Focal, With Variable Foci 3 |
|
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OMIM:617118 |