Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Maternal diabetes, Cardiomegaly, Abnormal aortic arch morpho... |
ORPHA:860 |
Lambert Syndrome |
|
Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia |
ORPHA:1296 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atri... |
OMIM:616749 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... |
OMIM:617478 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Tricuspid Atresia |
|
Atrial septal defect, Cyanosis, Ventricular septal defect, Patent foramen ovale, Hypoplasia of ri... |
ORPHA:1209 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Biliary atresia, Aplasia/Hypoplasia of the gallblad... |
ORPHA:2255 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Interrupted aortic arch, Pulmonary... |
OMIM:192430 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Hypoplastic tricuspid valve, Diabetes mellitus, Double outlet left ventricle,... |
OMIM:600001 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At... |
OMIM:265380 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Left superior vena cava drai... |
OMIM:613759 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
X-Linked Mandibulofacial Dysostosis |
|
Cryptorchidism, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morpholo... |
ORPHA:1131 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Cyanosis, Ventricular septal defect, Double outlet right ventricle, Coarctati... |
ORPHA:3426 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Umbil... |
OMIM:615297 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Atrial septal defect, Cor triatrium sinister, Unilateral cryptorchidism, Ventri... |
OMIM:618280 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland |
ORPHA:2762 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormality of the parathyroid gland, Secondary hyperparathyroidism |
ORPHA:140286 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Maternal... |
ORPHA:1208 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cyanosis, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial s... |
ORPHA:3304 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Cryptorchidism, Pulmonary artery stenosis |
ORPHA:435938 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... |
OMIM:164280 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Interrup... |
OMIM:300712 |
Familial Aortic Dissection |
|
Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Muco... |
ORPHA:229 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Digeorge Syndrome |
|
Parathyroid agenesis, Ventricular septal defect, Decreased circulating parathyroid hormone level,... |
OMIM:188400 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Thromboc... |
ORPHA:163979 |
Verheij Syndrome |
|
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck |
OMIM:615583 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm |
ORPHA:261102 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Perisylvian polymicrogyria, Coarctation of aorta, Anterior hypopituitarism, C... |
ORPHA:280195 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter |
OMIM:617577 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic ... |
ORPHA:250989 |
Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Abnormality of the pancreas, Tetralogy of Fallot, Spin... |
ORPHA:1926 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ... |
ORPHA:453499 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria luso... |
ORPHA:99050 |
Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Transaldolase Deficiency |
|
Coarctation of aorta, Anemia, Hepatosplenomegaly, Biventricular hypertrophy, Telangiectasia, Cirr... |
ORPHA:101028 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Splenomegaly, Jaundice, Patent duc... |
ORPHA:290 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Pseudohypoparathyroidism, Short neck |
OMIM:612463 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Short neck, Splenomegaly, Micronodular cir... |
OMIM:606003 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Patent foramen ovale, Patent ductus arteriosus, Coarctation of aorta, Hyperhidrosis... |
ORPHA:17 |
Fetal Minoxidil Syndrome |
|
Cryptorchidism, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Cryptorchidism, Tetralogy of Fallot, Abnormal aortic morphology, Abnor... |
ORPHA:1166 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the parathyroid gland, Pol... |
ORPHA:2969 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpholo... |
ORPHA:319487 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Patent foramen ovale, Atrial... |
OMIM:619189 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Vascular dilatation, Pa... |
OMIM:606519 |
Meacham Syndrome |
|
Accessory spleen, Death in infancy, Atrial septal defect, Bicuspid aortic valve, Ventricular sept... |
OMIM:608978 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Short neck, Abnormal aortic morphology, Webbed neck, Truncus arteriosus |
ORPHA:2516 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... |
ORPHA:2248 |
Perlman Syndrome |
|
Cryptorchidism, Pancreatic islet-cell hyperplasia, Interrupted aortic arch |
OMIM:267000 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... |
OMIM:601927 |
Verloove Vanhorick-Brubakk Syndrome |
|
Cryptorchidism, Abnormality of the parathyroid gland |
ORPHA:3429 |
Congenital Heart Block |
|
Cyanosis, Pericardial effusion, Patent ductus arteriosus, Hyperhidrosis, Endocardial fibroelastos... |
ORPHA:60041 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... |
ORPHA:3427 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Coarctation of aorta, Leukopenia, Lymphopenia |
OMIM:620210 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmon... |
ORPHA:1120 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet r... |
OMIM:620294 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Charge Syndrome |
|
Aortic arch aneurysm, Delayed eruption of teeth, Hypogonadotropic hypogonadism, Cryptorchidism, P... |
ORPHA:138 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Short neck |
ORPHA:464288 |
Holoprosencephaly |
|
Encephalocele, Diabetes mellitus, Diabetes insipidus, Ventricular septal defect, Abnormal pulmona... |
ORPHA:2162 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery from the pulmon... |
ORPHA:2326 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Euthyroid goiter |
OMIM:113650 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypog... |
OMIM:615996 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis |
ORPHA:306550 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cutis marmorata, Short neck, Cryptorchidism, Patent ductus arteriosus,... |
OMIM:612938 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent du... |
OMIM:618652 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypohidros... |
ORPHA:452 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short neck, Elevated circulating thyroid-stimulating hormone concentra... |
OMIM:612462 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a... |
ORPHA:449400 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Cyanosis |
ORPHA:71277 |
Phaver Syndrome |
|
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... |
ORPHA:2876 |
Hypoparathyroidism, X-Linked |
|
Abnormality of the neck, Congenital hypoparathyroidism |
OMIM:307700 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis, W... |
OMIM:616559 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased... |
ORPHA:352665 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Palmoplantar cut... |
OMIM:615355 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... |
ORPHA:2396 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Livedo reticularis, Premature coronary ar... |
OMIM:611788 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Ventricular septal defect, Death in infancy |
OMIM:614876 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, Pulm... |
OMIM:179613 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductu... |
ORPHA:500159 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short neck, Pseudohypoparathyroidism, Elevated circulating parathyroid... |
OMIM:103580 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Short neck |
ORPHA:2001 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Patent ductu... |
OMIM:601186 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Thickened nuchal skin fold, Short neck, Simplified gyral pattern, Lissencephaly, Cyanotic episode |
ORPHA:284417 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
8P23.1 Microdeletion Syndrome |
|
Short neck, Cryptorchidism, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic car... |
ORPHA:251071 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal... |
OMIM:616276 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Atrial septal defect, Ventricular septal defect, Parachute mitral valve, Cryptor... |
OMIM:618316 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Abnormality of the thyroid gland, Coarctation of aorta, Abnormal aorti... |
ORPHA:1923 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Alg3-Cdg |
|
Abnormality of the endocrine system, Neural tube defect, Cardiomyopathy, Coarctation of the desce... |
ORPHA:79321 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Hypergonadotropic hypogonadism, Aplastic anemia, Ventricular septal defect, Sho... |
OMIM:300514 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctatio... |
ORPHA:980 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Patent foramen ovale, C... |
OMIM:618494 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Cryptorchidism, Patent ductus arteriosus, Abnormality of the ad... |
ORPHA:861 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Cyanosis, Splenomegaly, Chylopericardium, Pulmonic stenosis |
ORPHA:2414 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Aortic an... |
ORPHA:261330 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck |
OMIM:601355 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Myelomeningocele, Gray matter heterotopia, Cervical myelopathy |
OMIM:207950 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... |
OMIM:220210 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Pulmo... |
ORPHA:401935 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Cryptorc... |
OMIM:605275 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Normochromic anemia, Neutropenia,... |
OMIM:614857 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Bruising susce... |
ORPHA:335 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Periventricular hetero... |
OMIM:618974 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... |
ORPHA:284169 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Cutis ma... |
ORPHA:91387 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia |
ORPHA:3405 |
Pseudohypoparathyroidism, Type Ii |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism |
OMIM:203330 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid ste... |
OMIM:212093 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Increased nuchal translucency, Patent duct... |
OMIM:616564 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,... |
OMIM:614779 |
Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis |
OMIM:607578 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Progeroid facial appearance, Cryptorchidism... |
ORPHA:2962 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Persistence of... |
OMIM:619769 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Dextrocardia, Secundum atrial septal defect, Hypoxemia, Abnormal pulmonary artery morph... |
ORPHA:2257 |
Partial Atrioventricular Septal Defect |
|
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Aortic Arch Interruption |
|
Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv... |
ORPHA:2299 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct... |
ORPHA:2519 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... |
ORPHA:3092 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Diabetes insipidus, Petechiae, Splenomegaly, Vasculitis, Erythema, Cardiomyopathy, ... |
OMIM:225750 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Ventricular septal defect, Short neck, Dysplastic ao... |
ORPHA:508488 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Cutis marmorata, Portal hypertension, Splenomegaly, Hepatic fibrosis, ... |
OMIM:616589 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Atrioventricular ... |
ORPHA:210122 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Spina bifida, Situs inversus totalis, Abnormality of the spleen,... |
ORPHA:991 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low poste... |
ORPHA:261337 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Coarct... |
OMIM:618164 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa... |
OMIM:618624 |
Congenital Tracheomalacia |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu... |
ORPHA:95430 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch |
OMIM:614846 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Absent nipple, Aplasia of the thymus, Patent foramen ovale, Congenit... |
OMIM:620186 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:612561 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Buerger Disease |
|
Acrocyanosis, Vasculitis, Hyperhidrosis |
ORPHA:36258 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Hypoplastic aort... |
OMIM:617506 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism |
OMIM:603233 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteri... |
OMIM:619657 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Coar... |
ORPHA:371428 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... |
ORPHA:3097 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Death in infancy, Ventricular septal defect, Abnormal cortical gyrati... |
OMIM:614576 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Supernumerary nipple, Periventricular heterotopia, Cryptorchidism, Low posterior ha... |
OMIM:618929 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, Pulm... |
OMIM:300963 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Pulmonary venous occlusion |
ORPHA:2260 |
Char Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti... |
ORPHA:46627 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Short neck, Cardiomegaly, H... |
OMIM:617022 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Death in childhood |
OMIM:253300 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Post... |
ORPHA:75389 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atria... |
ORPHA:329224 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Vascular ring, Atrial septal defect, Pachygyria, Polymicrogyria |
OMIM:603387 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Microsporidiosis |
|
Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Peritonitis, Biliar... |
ORPHA:2552 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse |
OMIM:616166 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi... |
OMIM:612946 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
22Q11.2 Deletion Syndrome |
|
Short neck, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal defect, Hypo... |
ORPHA:567 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy... |
ORPHA:97289 |
Distal Deletion 15Q |
|
Decreased serum insulin-like growth factor 1, Bicuspid aortic valve, Mitral atresia, Double outle... |
ORPHA:1596 |
Hereditary Methemoglobinemia |
|
Cyanosis, Methemoglobinemia |
ORPHA:621 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Pol... |
OMIM:617751 |
Fryns Syndrome |
|
Thickened nuchal skin fold, Short neck, Cryptorchidism, Abnormal aortic arch morphology, Abnormal... |
ORPHA:2059 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, Truncus arteriosus |
OMIM:617516 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... |
OMIM:613834 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Adrenal insufficiency, Pulmonic stenosis |
ORPHA:251076 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Ventricular septal defect,... |
OMIM:146510 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Central cyanosis, Pulmonic stenosis, Sub... |
OMIM:620067 |
Sifrim-Hitz-Weiss Syndrome |
|
Hypogonadotropic hypogonadism, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosu... |
OMIM:617159 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Thiam... |
OMIM:249270 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Frontal polymicrogyria, Ventricular septal defect, Cryptorchidism, Patent d... |
OMIM:620024 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Hydrocele testis, A... |
ORPHA:314588 |
Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Preductal coarctation of the aorta |
OMIM:215045 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Atrial septal defect, Hypergonadotropic hypogonadism, Decreased response to growth ... |
OMIM:602782 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Calciphylaxis |
|
Cutis marmorata, Arterial calcification, Secondary hyperparathyroidism |
ORPHA:280062 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cryptorchidism, Compl... |
OMIM:264480 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Low posterior ha... |
OMIM:244300 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri... |
ORPHA:2345 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... |
OMIM:208540 |
Acrocardiofacial Syndrome |
|
Death in infancy, Hyperthyroidism, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Co... |
ORPHA:2008 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Short neck, Increased nuchal translucency, Patent ductus arteriosus, A... |
OMIM:615668 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology |
ORPHA:3222 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Patent ductus arteriosus, Tetralogy of F... |
OMIM:601005 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Decreased response to growth hormone stimulation test, Ventricula... |
OMIM:601808 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Short neck, Persistence of primary teeth, Cryptorchidism, Patent ductu... |
OMIM:201000 |
Mmep Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:3434 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Cryptorchidism, Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Maternal diabetes, Large placenta, Patent ductus arteriosus, Coarctati... |
ORPHA:1708 |
Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Aortopulmonary collateral arteries |
ORPHA:293181 |
Congenital Tracheal Stenosis |
|
Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypopl... |
ORPHA:141127 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Tetralogy of Fallot, Pachygyria,... |
ORPHA:2328 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Lissencephaly, Atri... |
OMIM:618142 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Cyanosis, Short neck, Increased nuchal translucency, Hepatic fibrosis, S... |
OMIM:619879 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa... |
OMIM:600460 |
Asbestos Intoxication |
|
Cyanosis, Mediastinal lymphadenopathy, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Oxygen desa... |
ORPHA:2302 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, ... |
OMIM:270100 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Short neck, Pse... |
ORPHA:94089 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... |
ORPHA:1908 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect,... |
ORPHA:49827 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Vasculitis, Erythema, Lymphadenopathy, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arter... |
OMIM:130720 |
Dravet Syndrome |
|
Limited neck range of motion, Cyanotic episode |
ORPHA:33069 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Parathyroid carcino... |
OMIM:145001 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Hepatomegaly, Death in infancy, Redundant neck skin, Ventricular sept... |
OMIM:235255 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Bilateral cryptorchidism, Left aortic arch with right descending ... |
ORPHA:1600 |
Syndromic Diarrhea |
|
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... |
ORPHA:84064 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Cryptorchidism, Neonatal death |
OMIM:613730 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Ab... |
ORPHA:555874 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, L... |
ORPHA:96167 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
2Q37 Microdeletion Syndrome |
|
Umbilical hernia, Abnormal aortic morphology, Supernumerary nipple, Short neck |
ORPHA:1001 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Short neck, Asplenia, Cryptorchidism, Pate... |
ORPHA:99776 |
Prune Belly Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Tetral... |
ORPHA:2970 |
Fg Syndrome Type 1 |
|
Facial wrinkling, Cryptorchidism, Coarctation of aorta, Mitral valve prolapse, Small pituitary gl... |
ORPHA:93932 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Telangiectasia, Atrial septal de... |
OMIM:612582 |
Transketolase Deficiency |
|
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
3C Syndrome |
|
Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Adrenal hypoplasia... |
ORPHA:7 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Delayed eruption of permanent teeth, Ventricular septal defect |
OMIM:618506 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Periventricular heterotopia, Increased nuchal translucency, Patent duc... |
OMIM:618870 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Supernumerary nipple, Short neck, Patent ductus arteriosus, Coarctatio... |
OMIM:600268 |
Emanuel Syndrome |
|
Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Delayed eruption of primary t... |
OMIM:609029 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Bile duct proliferation, Atri... |
OMIM:611134 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... |
ORPHA:163634 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cryptorchidism, Cholestasis,... |
ORPHA:52 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Cyanosis, Methemoglobinemia, ... |
OMIM:250790 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Cardiac rhabdomyoma, Pulm... |
ORPHA:805 |
Trisomy 13 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Cystic... |
ORPHA:3378 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Increased nuchal translucency, Ventricular septal defect, Supernumerary nipple |
OMIM:617635 |
Pulmonary Arteriovenous Malformation |
|
Liver abscess, Transient ischemic attack, Cyanosis, Pulmonary arteriovenous fistulas, Telangiecta... |
ORPHA:2038 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Dela... |
ORPHA:2238 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short neck, Hyperhidrosis, Pulmonic stenosis, Webbed neck, Atrial sept... |
OMIM:615279 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Cholestasis, Coarctation of aorta, Portal fibrosis, Pulmonic steno... |
OMIM:614300 |
Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... |
ORPHA:1461 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Coarctation of aorta |
OMIM:616069 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Patent ductus arteriosus, Biliary ... |
OMIM:267010 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Death in infancy, Ventricular septal defect, Hepatic melanin-like lysosomal... |
OMIM:208085 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short neck, Pat... |
OMIM:609053 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Hypothyroidism, Thrombocytop... |
OMIM:620184 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Carotid artery dissection, Progeroid facial appearance, Pulmonary artery... |
OMIM:208050 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Cor pulmonale |
OMIM:263000 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
King-Denborough Syndrome |
|
Ventricular septal defect, Short neck, Bilateral cryptorchidism, Cryptorchidism, Webbed neck |
OMIM:619542 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Leukocytosis, Perisylvian poly... |
OMIM:615673 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Foam cells, Cyanosis |
ORPHA:747 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Intrahepatic biliary atresia |
OMIM:614815 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Liss... |
ORPHA:50810 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Short neck, Cryptorchidism, Coronary ... |
OMIM:614294 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly |
ORPHA:391428 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular... |
OMIM:614816 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:99880 |
Eisenmenger Syndrome |
|
Hepatomegaly, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcyt... |
ORPHA:97214 |
Down Syndrome |
|
Thickened nuchal skin fold, Redundant neck skin, Ventricular septal defect, Atrioventricular cana... |
OMIM:190685 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, An... |
ORPHA:1335 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Leukocytosis, Cyanosis |
ORPHA:330012 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... |
ORPHA:42775 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Cryptorchidism, Leukopenia, Pulmoni... |
OMIM:301056 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Short neck, Bilateral cryptorchidism, Patent ductus arteriosus, Broad ... |
OMIM:300472 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
Myofibrillar Myopathy 11 |
|
Coarctation of aorta |
OMIM:619178 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Cryptorchidism, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Ventricular septal defect, Hydrocele testis, Aortic root aneurysm, Atrial septal defect |
OMIM:145420 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Abnormal... |
ORPHA:209905 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Bilateral cryptorchidism, Abnormality of the abdominal organs,... |
ORPHA:2409 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Ventricular septal defect, Short neck, Patent ductus arteriosus, Mitral va... |
OMIM:121050 |
Opitz Gbbb Syndrome |
|
Natal tooth, Enlarged ovaries, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosu... |
ORPHA:2745 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... |
ORPHA:79444 |
Trisomy 1Q |
|
Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Patent ductus arteriosu... |
ORPHA:261344 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Abnormal cerebral vascular morphology, Primary adrenal i... |
ORPHA:3453 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
OMIM:609942 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Polymicrogyria, Ventricular septal defect, Cutis marmorata |
OMIM:602501 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Leukocytosis, Neutrophilia, Cyanosis |
ORPHA:1302 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short neck, Cryptorchidism, Abnormal heart morphology, Umbilical herni... |
ORPHA:369891 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Pate... |
ORPHA:439 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Cryptorchidism, Hypothyroidism, Pulmonic stenosis, Atrial septal defec... |
ORPHA:3282 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Adren... |
ORPHA:51608 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Acute Interstitial Pneumonia |
|
Cyanosis, Pericardial effusion, Lymphadenopathy, Hypoxemia, Reduced hematocrit |
ORPHA:79126 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613870 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Abnormality of neuronal migration |
ORPHA:2772 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Pulmonary arteriovenous malform... |
OMIM:610655 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Coarctation of ... |
OMIM:614114 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Redundant neck skin, Ventricular septal defect, Cryptorchidism, Patent... |
ORPHA:96170 |
Zellweger Syndrome |
|
Thickened nuchal skin fold, Hepatomegaly, Death in infancy, Ventricular septal defect, Cryptorchi... |
ORPHA:912 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation ... |
OMIM:619480 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonic stenosi... |
OMIM:608149 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Paraganglioma of head and neck, Thyroid C cell hyperplasia, ... |
ORPHA:653 |
Sepsis In Premature Infants |
|
Hepatomegaly, Cyanosis, Petechiae, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, Neutro... |
ORPHA:90051 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Persistence of primary teeth,... |
OMIM:300166 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis, Methemoglobinemia |
ORPHA:464453 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac... |
ORPHA:261311 |
Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Cryptorchidism, Webbed neck, Atrial septal defect, Patent foramen ovale |
OMIM:618950 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect, Cryptorchidism, Gray matter heterotopia, Periventricular nodular heter... |
OMIM:617201 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Tetrasomy 5P |
|
Redundant neck skin, Cyanosis, Short neck |
ORPHA:3309 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... |
OMIM:108900 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Mitral stenosis, Decreased response to growth hormone stimulation test,... |
OMIM:617260 |
Multiple Endocrine Neoplasia, Type Iib |
|
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... |
OMIM:162300 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Limited neck range of motion, Ventricular septal defect, Low posterior hairline, Short neck |
OMIM:214300 |
Jacobsen Syndrome |
|
Death in infancy, Ventricular septal defect, Spina bifida, Short neck, Cryptorchidism, Coarctatio... |
ORPHA:2308 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Natal tooth, Ventricular septal defect, Short neck, Splenomegaly, Patent ductus art... |
OMIM:269860 |
Sotos Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Muscul... |
OMIM:117550 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... |
ORPHA:477817 |
Ogden Syndrome |
|
Cryptorchidism, Pulmonary artery stenosis, Ventricular septal defect, Torticollis |
ORPHA:276432 |
Pseudohypoparathyroidism Type 2 |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism |
ORPHA:94090 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Ventricular septal defect |
OMIM:616816 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Ad... |
OMIM:214100 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Hepatomegaly, Death in infancy, Ventricular septal defect, Nephrogenic diab... |
OMIM:613404 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega... |
OMIM:614921 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Parathyroid hyperplasia, Hyperparathyroidism, Elevated circulating parathyroid hormone level |
OMIM:612089 |
Poems Syndrome |
|
Diabetes mellitus, Polycythemia, Abnormality of the endocrine system, Pericardial effusion, Prima... |
ORPHA:2905 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Cutis marmorata, Cryptorchidism, Coarctation of aorta, Aortic root ane... |
OMIM:617602 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot... |
OMIM:115470 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Precocious puberty, Cryptorchidism, Hypogonadism, Tetralogy of Fallot |
ORPHA:3306 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Ventricular septal defect, Eosinophilia, Spina bifida, Pancreatic cysts, Thromb... |
OMIM:274000 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Cryptorchidism, Aort... |
OMIM:620025 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple |
OMIM:106260 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cutis marm... |
OMIM:100300 |
Esophageal Atresia |
|
Cyanosis, Ventricular septal defect, Maternal diabetes, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:1199 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Coarct... |
OMIM:618454 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy |
ORPHA:444013 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thickened nuchal skin fold, Atrial septal defect, Patent ductus arteriosus, Ventricular septal de... |
OMIM:220500 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple... |
ORPHA:261494 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Patent ductus arteriosus, Ovarian cyst, Stroke, Splenic cyst, Umbilical hernia |
OMIM:618188 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Mitral valve calcification, Cyanosis, Calcification of the aorta, Hypoxemia, Testic... |
ORPHA:60025 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Intracranial hemorrhage, Generalized abnormality of skin, Pe... |
ORPHA:740 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cryptorchidism, Acrocyanosis, Decreased testicular size, Abnormal heart morphology |
ORPHA:1867 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, Atrial septal defect, Abnormality of the hypothalamus-pitui... |
ORPHA:84 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoxemia, Abnormal... |
ORPHA:199241 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Cutis marmorata, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Moyamoya ... |
ORPHA:51 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Pulmonic stenosis, Webbed neck, Atrial sep... |
OMIM:610733 |
Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
Toriello-Carey Syndrome |
|
Short neck, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnor... |
ORPHA:3338 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aort... |
OMIM:164210 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Vascular skin abnormality, Hyperhidro... |
ORPHA:349 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia |
OMIM:618107 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... |
ORPHA:79443 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Methemoglobinemia, Polycythemia |
OMIM:250800 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:217085 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Short neck |
ORPHA:93267 |
X-Linked Intellectual Disability, Nascimento Type |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Patent fora... |
ORPHA:163956 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Ventricular septal defect, Thyroid agenesis, Cryptorchidism, Patent ductus ar... |
ORPHA:3047 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Poor wound healing, Mitral valve prolapse, Aortic dissection, Arterial dissection, Umbilical hern... |
ORPHA:1900 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Cryptorchidism, Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta, Abnormal cardiac s... |
ORPHA:96147 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Reticulocytopenia, Steroi... |
OMIM:613309 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... |
ORPHA:435638 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Transient ischemic attack, Eosinophilia, Abnormal pericardium morphology, Cutis marmorata, Myocar... |
ORPHA:183 |
Myasthenia Gravis |
|
Hemolytic anemia, Hyperthyroidism, Pure red cell aplasia, Primary adrenal insufficiency, Hepatiti... |
ORPHA:589 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Short neck, Precocious puberty, Cryptorchidism, Hypothyroidism, Atrial... |
ORPHA:254346 |
Roifman Syndrome |
|
Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly... |
OMIM:616651 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... |
ORPHA:369929 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul... |
OMIM:610978 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis |
OMIM:261680 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:457193 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis, Hyperhidrosis |
ORPHA:2400 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Short neck, Splenomegaly, Pancreati... |
ORPHA:1655 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Simplified gyral pattern |
OMIM:614407 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Giant Cell Arteritis |
|
Pericarditis, Mediastinal lymphadenopathy, Vasculitis, Hyperhidrosis, Aortic dissection, Diabetes... |
ORPHA:397 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:611812 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma |
OMIM:608266 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612562 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... |
OMIM:214800 |
Desbuquois Syndrome |
|
Ventricular septal defect, Short neck |
ORPHA:1425 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Prominent superficial blood vessels, Right ventr... |
OMIM:619472 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Death in infancy, Double aortic arch, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230900 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Short neck |
OMIM:617452 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level |
OMIM:617994 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Atrial septal defect, Redundant neck skin, Miscarriage, Ventricular septal defect, ... |
ORPHA:96334 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Short neck |
ORPHA:52055 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy, Cyanosis, Misalignment of the pulmonary veins |
OMIM:265120 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Ventricular septal defect, Bilateral cr... |
OMIM:613457 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pu... |
ORPHA:99106 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... |
ORPHA:99094 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Mediastinal lymphadenopathy, Cyanosis |
ORPHA:91359 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta,... |
ORPHA:1692 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Polymicrogyria |
ORPHA:83473 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Acrocyanosis, Thrombocytopenia, Macular purpura |
ORPHA:49566 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Cyanosis, Cryptorchidism, Atrial septal defect, Tetralogy of Fallot... |
ORPHA:2886 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septa... |
ORPHA:1329 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Pulmonary lymphangiectasia, Mitral valve prolapse |
OMIM:247410 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Sh... |
OMIM:163950 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymph... |
OMIM:235510 |
Unilateral Polymicrogyria |
|
Cyanosis, Pulmonary arteriovenous malformation, Perisylvian polymicrogyria, Abnormal heart morpho... |
ORPHA:268943 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Aortic valve stenosis, Spina bifida occulta, Coarctation of aorta |
ORPHA:2780 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, Subvalvular aortic stenosis, Atri... |
OMIM:613001 |
Filippi Syndrome |
|
Cryptorchidism, Ventricular septal defect |
OMIM:272440 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Gray ... |
OMIM:610443 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Natal tooth, Malformation of the hepatic ductal plate,... |
OMIM:249000 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Short neck, Cryptorchidism, Pa... |
OMIM:610759 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... |
OMIM:243150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Dilation of Virchow-Robin spaces, Ventricular septal defect, Bilateral cryptorchidism, Cryptorchi... |
OMIM:300998 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Cry... |
ORPHA:1507 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Short neck |
ORPHA:505237 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus art... |
OMIM:616894 |
Mosaic Variegated Aneuploidy Syndrome |
|
Increased nuchal translucency, Coarctation of aorta, Acute lymphoblastic leukemia, Abnormal aorti... |
ORPHA:1052 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Ventricular septal defect, Increased circ... |
OMIM:270450 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Polycythemia, Cardiomegaly, Cryptorchidism, Splenomegaly... |
ORPHA:116 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Spina bifida, Premature thelarche, Bilateral cryptor... |
OMIM:180849 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Ventricular septal defect, Polycystic ovaries |
ORPHA:1770 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descendin... |
OMIM:610168 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Abnormalit... |
OMIM:222470 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Ventricular septal defect, Short neck |
OMIM:620073 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Anemia |
ORPHA:2668 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cyanosis, Ventricular septal defect, Cardiomegaly, Stroke-like episode, Polycystic ... |
ORPHA:137675 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Atrial septal defect, Enlarged ovaries, Reduced subcutaneous adipose tis... |
ORPHA:769 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Short neck, Atrioventricular cana... |
ORPHA:508498 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:2143 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:70587 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Abnormal mesentery morphology, Ventricular septal defect |
ORPHA:2256 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Abnormal heart morphology, Hep... |
ORPHA:354 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Spondylo-Ocular Syndrome |
|
Webbed neck, Ventricular septal defect, Low posterior hairline, Short neck |
ORPHA:85194 |
Costello Syndrome |
|
Thickened nuchal skin fold, Ventricular septal defect, Short neck, Cryptorchidism, Mitral valve p... |
ORPHA:3071 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, Ascending tubular aorta aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:309520 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Anterior encephalocele |
OMIM:601357 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Supernumerary ... |
ORPHA:457279 |
Arterial Tortuosity Syndrome |
|
Prematurely aged appearance, Telangiectasia of the skin, Myocarditis, Pulmonary artery stenosis, ... |
ORPHA:3342 |
Meester-Loeys Syndrome |
|
Poor wound healing, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm... |
OMIM:300989 |
Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Supernumerary nipple, Patent ductus arter... |
OMIM:257920 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Radial artery aplasia, Ventricular septal defect, Pure red cell aplasia, ... |
ORPHA:124 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Cyanosis, Cardiomyopathy |
ORPHA:159 |
Eosinophilic Fasciitis |
|
Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Short neck, Cryptorchidism, Patent ductus arteriosus, Pa... |
OMIM:256520 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613680 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620113 |
Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Cryptorchidism, Patent ductus arteriosus, Anomalous pulm... |
OMIM:616368 |
Woods Syndrome |
|
Ventricular septal defect, Supernumerary nipple |
OMIM:615236 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibrosis |
OMIM:615630 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect, Death in infancy, Death in childhood |
OMIM:616901 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Anomalous pulmonary venous return, ... |
ORPHA:99104 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Cryptorchidism, Paten... |
ORPHA:1465 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect, Hypothyroidism |
OMIM:619908 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Varicose veins, Pulmonic stenosis, Aortic dissection, Bruising susceptibility, Polymicrogyria, Va... |
OMIM:618343 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... |
OMIM:618775 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Perimembranous ventricular septa... |
OMIM:158170 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Cutis marmorata, Short neck, Cryptorchidism, Patent ductus arteriosus,... |
ORPHA:96121 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Ascending aorta hypoplasia, Facial erythem... |
OMIM:619503 |
C Syndrome |
|
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cryptorchidism |
OMIM:211750 |
Alagille Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Hepatocellular carcinoma, Cholestasis, Coarctati... |
OMIM:118450 |
Codas Syndrome |
|
Delayed eruption of teeth, Extrahepatic biliary duct atresia, Ventricular septal defect |
ORPHA:1458 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
Branchiooculofacial Syndrome |
|
Supernumerary nipple, Short neck, Cryptorchidism, Low posterior hairline, Premature graying of ha... |
OMIM:113620 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Maternal diabetes, Short neck, Cardiomegaly, Microves... |
OMIM:300855 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Mitral valve prolapse, Hypothyroidism, Hypohidrosis |
ORPHA:1563 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr... |
OMIM:240300 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617061 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Short neck, Cryptorchidism, Meningocele, Low posterior hairline, Umbil... |
ORPHA:2789 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Varicose veins, Webbed ... |
OMIM:153400 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormalit... |
ORPHA:79329 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Short neck |
OMIM:609654 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Pulmonary artery stenosis, Increased nuchal translucency, Patent ductu... |
ORPHA:79345 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Short neck, Congenital hypoplas... |
OMIM:105650 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Pulmonic stenosis, Atrial septal... |
OMIM:615102 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Short neck, Cryptorchidism, Coarctatio... |
OMIM:616145 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... |
OMIM:616652 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Kabuki Syndrome 2 |
|
Natal tooth, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Atrioventricular cana... |
OMIM:300867 |
Joubert Syndrome 14 |
|
Encephalocele, Meningocele, Ventricular septal defect, Intracranial hemorrhage |
OMIM:614424 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... |
OMIM:175050 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Recurrent pancre... |
OMIM:618268 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, Bruising susceptibility, Abnormal heart morphology... |
ORPHA:284984 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:615879 |
Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Death in infancy, Cyanosis, Splenomegaly, Concentric hypertrophic cardiomyopathy, H... |
OMIM:252010 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Acrocyanosis |
ORPHA:896 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog... |
OMIM:618748 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arte... |
ORPHA:353281 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Cardiomegaly, Short neck, Webbed neck, Hypertrophic cardiomyopathy |
OMIM:616897 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Primary adrenal insufficiency, Cardi... |
OMIM:530000 |
Seckel Syndrome 9 |
|
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Simplified gyral pa... |
OMIM:616777 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level |
OMIM:146200 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Peripheral ar... |
ORPHA:217085 |
Robinow Syndrome |
|
Ventricular septal defect, Persistence of primary teeth, Cryptorchidism, Marked delay in eruption... |
ORPHA:97360 |
Brachydactyly, Type B1 |
|
Delayed eruption of permanent teeth, Ventricular septal defect |
OMIM:113000 |
Familial Visceral Myopathy |
|
Umbilical hernia, Hyperparathyroidism, Abdominal situs inversus |
ORPHA:2604 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... |
OMIM:619991 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Peripheral ar... |
ORPHA:217093 |
X Small Rings |
|
Bicuspid aortic valve, Ventricular septal defect, Short neck, Low posterior hairline, Aortic root... |
ORPHA:96201 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1488 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Umbilical hernia, Patent ductus arteriosus, Bruising susceptibility, Aortic rupture |
OMIM:614557 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism |
OMIM:239199 |
Orofaciodigital Syndrome Vi |
|
Coarctation of aorta, Hypoplastic left heart, Occipital meningocele, Periventricular nodular hete... |
OMIM:277170 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, Su... |
OMIM:280000 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Hamamy Syndrome |
|
Hypoparathyroidism, Microcytic anemia, Cryptorchidism, Complete atrioventricular canal defect, Lo... |
OMIM:611174 |
Tetrasomy 9P |
|
Absent gallbladder, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Short neck,... |
ORPHA:3310 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos... |
OMIM:608328 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Ventricular septal defect, Abnormal cortical gyration, Short neck, Pachygyria, ... |
OMIM:210710 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Mitral valve prolapse, Aortic root aneurysm, Dil... |
ORPHA:287 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin, Ventricular septal defect, Low posterior hairline, Atrial septal defect, Spi... |
OMIM:617360 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Dilated cardiomyopathy, Ery... |
ORPHA:550 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Short neck, Cryptorchidism, Mitral valve prolapse, Ascending tubular a... |
ORPHA:444072 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Unilateral cryptorchidism, Bicuspid aortic valve, Bilateral cryptorchidism, Cryptor... |
ORPHA:1772 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Unilateral cryptorchidism, Decreased response to growth hormone stimulation te... |
OMIM:613406 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Short neck, Webbed neck, Hepatic fibrosis, Atrial septal defect, Hepatic s... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Short neck, Webbed neck, Hepatic fibrosis, Atrial septal defect, Hepatic s... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Short neck, Webbed neck, Hepatic fibrosis, Atrial septal defect, Hepatic s... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Short neck, Webbed neck, Hepatic fibrosis, Atrial septal defect, Hepatic s... |
ORPHA:881 |
Kury-Isidor Syndrome |
|
Ventricular septal defect, Short neck |
OMIM:619762 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Patent ductus arteriosus, Abnormal heart morphology, Atri... |
ORPHA:369837 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Anemia |
OMIM:620366 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
19P13.3 Microduplication Syndrome |
|
Precocious puberty, Ventricular septal defect, Unilateral cryptorchidism |
ORPHA:447980 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Ventricular septal defect, Crypt... |
OMIM:614866 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog... |
ORPHA:449395 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Ventricular septal defect, Abnormal vena cav... |
ORPHA:166035 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic left heart, Atri... |
ORPHA:2473 |
Congenital Myasthenic Syndrome |
|
Cyanosis |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98914 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Testicular neoplasm... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Testicular neoplasm... |
ORPHA:363958 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
Myhre Syndrome |
|
Ventricular septal defect, Short neck, Pericardial effusion, Cryptorchidism, Patent ductus arteri... |
OMIM:139210 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Telangiectasia of the skin, Spina bifida, Patent ductus arteriosus, Er... |
ORPHA:2092 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Short neck, Cryptorchidism, Failure of eruption of permanent teeth, Acrocya... |
ORPHA:2896 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Advanc... |
ORPHA:1519 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, E... |
ORPHA:199299 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Simplified gyral pattern, Atrial septal defect, Patent foramen ovale, ... |
OMIM:614261 |
Alg9-Cdg |
|
Thickened nuchal skin fold, Hepatomegaly, Torticollis, Ventricular septal defect, Short neck, Per... |
ORPHA:79328 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adre... |
ORPHA:293987 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Coarctation of aorta |
OMIM:163200 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Atrial septal defect, Atrioventricular canal defect,... |
ORPHA:672 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... |
ORPHA:699 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Gray matter heterotopia, Hyperechogenic pancreas... |
OMIM:605039 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts |
OMIM:263630 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Hypoparathyroidism |
ORPHA:496756 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Abnormal cortical gyration, Complete atrioventricula... |
OMIM:236680 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Pachygyria, Ventricular septal defect, Pineal cyst |
ORPHA:513456 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormality of neuronal migr... |
ORPHA:464311 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Redundant neck skin, Pseudohypoparathyroidism, Short neck |
OMIM:617157 |
Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Ventricular septal defect, Decreased response to growth hormone stimulation test... |
ORPHA:488632 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Polymicrogyria, Ventricular septal defect |
ORPHA:79243 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... |
OMIM:157800 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal death, Death in infancy, Cyanosis, Hypoxemia |
OMIM:610921 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Mitral stenosis, Ventricular septal defect, Short neck, Splenomegaly, Patent ductus... |
ORPHA:955 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Aortic root aneurysm, Ascending a... |
OMIM:615582 |
Gabriele-De Vries Syndrome |
|
Cryptorchidism, Patent foramen ovale, Aortopulmonary collateral arteries |
OMIM:617557 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect, Aplastic anemia, Short neck |
OMIM:610832 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Palpable purpura, Cutis marmorata, Orchitis, Cardiomyopathy... |
ORPHA:48435 |
Marfan Syndrome |
|
Mitral valve calcification, Descending aortic dissection, Meningocele, Dilatation of an abdominal... |
ORPHA:558 |
Rere-Related Neurodevelopmental Syndrome |
|
Cryptorchidism, Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Coarctation of aorta, Atrioventricular cana... |
OMIM:617088 |
Larsen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Spina bifida occulta, Aortic ane... |
OMIM:150250 |
Filippi Syndrome |
|
Cryptorchidism, Ventricular septal defect, Supernumerary nipple |
ORPHA:3255 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Peripheral arterial stenosis, Cutis marmorata |
OMIM:259900 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Periventricular heterotopia, Precociou... |
OMIM:270400 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple... |
OMIM:619418 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Increased serum... |
OMIM:618901 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Cholestasis, Cardiomyopathy, Left ventricular hypertrophy, Diffuse hepatic st... |
ORPHA:746 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Pulmonary artery stenosis, Pulmonary va... |
OMIM:301030 |
Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ventricular septal defect, Cryptorc... |
OMIM:206900 |
Jacobsen Syndrome |
|
Ventricular septal defect, Short neck, Cryptorchidism, Atrial septal defect, Annular pancreas, Th... |
OMIM:147791 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Ventricular septal defect |
OMIM:618504 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Delayed eruption of teeth, Cutis marmorata, Abnormality of neutrophils, Crypt... |
ORPHA:235 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Death in infancy, Atrial septal defect, Ventricular septal defect, Supernumerary ni... |
ORPHA:373 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Short neck, Transposition of the great arteries, Webbed neck, Tetralog... |
ORPHA:1780 |
Omodysplasia 1 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Pulmonary artery stenosis, Atrial septal d... |
OMIM:258315 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... |
OMIM:261740 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arte... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arte... |
ORPHA:353277 |
Apert Syndrome |
|
Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Cryptorchidism, Hyperhidr... |
OMIM:101200 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microc... |
OMIM:301040 |
Radio-Tartaglia Syndrome |
|
Precocious puberty, Gray matter heterotopia, Ventricular septal defect |
OMIM:619312 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Ma... |
OMIM:602535 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Umbilical hernia |
OMIM:102500 |
Nicolaides-Baraitser Syndrome |
|
Cryptorchidism, Low posterior hairline, Coarctation of aorta, Excessive wrinkled skin, Periorbita... |
OMIM:601358 |
Loeys-Dietz Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Bruising s... |
ORPHA:60030 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Annular pancreas, Patent for... |
OMIM:616975 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situs inversus, Pulmonic stenosis,... |
OMIM:619123 |
Galloway-Mowat Syndrome 3 |
|
Pachygyria, Lissencephaly, Simplified gyral pattern, Coarctation of aorta |
OMIM:617729 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia |
OMIM:619980 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cryptorchidism, Ventricular septal defect, Dysplastic pulmonary valve, Focal polymicrogyria |
OMIM:619103 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Short neck, Cryptorchidism, Stillbirth, Pol... |
OMIM:229850 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... |
ORPHA:99095 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve ... |
ORPHA:99103 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Webbed ... |
ORPHA:1393 |
Phelan-Mcdermid Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hypohidrosis |
OMIM:606232 |
Cerebellofaciodental Syndrome |
|
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Short neck |
OMIM:616202 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Abnormality of the ne... |
ORPHA:904 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Natal tooth, Ventricular septal defect, Periventricular heterotopia, Cry... |
OMIM:615948 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypothyroidism,... |
ORPHA:444077 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptor... |
ORPHA:466791 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Cryptorchidism, Patent ductus arteriosu... |
ORPHA:464306 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ventricular septal defect, Cryptorchidism, Thromboc... |
OMIM:227645 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon... |
OMIM:614609 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Periventricular heterotopia, Cryptorchidism, Dilated cardiomyopathy, I... |
ORPHA:261250 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Congenital hypoparathyroidism |
ORPHA:2323 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Cryptorchidism, Ventricular septal defect, Decreased testicular size, Short neck |
ORPHA:251028 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Ethylene Glycol Poisoning |
|
Cyanosis, Renal tubular epithelial necrosis |
ORPHA:31826 |
Trichothiodystrophy |
|
Ventricular septal defect, Prematurely aged appearance, Cryptorchidism, Increased mean corpuscula... |
ORPHA:33364 |
Trisomy 18 |
|
Ventricular septal defect, Spina bifida, Cryptorchidism, Anencephaly, Webbed neck, Atrial septal ... |
ORPHA:3380 |
Alport Syndrome |
|
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology |
ORPHA:63 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Cryptorchi... |
ORPHA:438213 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Webbed neck, Atrial septal defe... |
OMIM:300373 |
17Q11 Microdeletion Syndrome |
|
Cerebral artery stenosis, Telangiectasia of the skin, Precocious puberty, Abnormal internal carot... |
ORPHA:97685 |
19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Supernumerary nipple |
ORPHA:217346 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Pachygyria, Ventricular septal defect, Lissencephaly |
OMIM:618325 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:244450 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Cutis marmorata |
OMIM:613398 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... |
ORPHA:289 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Short neck, Cryptorchidism, Atrial septal defect, Abnormality of the h... |
ORPHA:251014 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Short neck, Patent ductus arteriosus, Muscular ventricular septal defect, ... |
OMIM:612474 |
Smith-Lemli-Opitz Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cutis marmorata, Short neck, Cryptorchidism, Pat... |
ORPHA:818 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Ventricular septal defect |
ORPHA:1782 |
Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Congenital hypoplastic anemia, Cryptorchid... |
OMIM:619488 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis |
OMIM:615503 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Short neck, Bilateral cryptorchidism, Periventricular heterotopia, Pat... |
ORPHA:434179 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Supernumerary nipple |
OMIM:612530 |
Distal Duplication 5Q |
|
Cryptorchidism, Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis |
OMIM:277600 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Thickened nuchal skin fold, Death in infancy, Bicuspid aortic valve, Mitral atresia, Microvesicul... |
OMIM:220111 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Type... |
ORPHA:436252 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism |
ORPHA:93160 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Pericardial effusion, Jaundice, Dilated cardiomyopathy, ... |
ORPHA:26793 |
Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Ventricular septal defect, Poor wound healing, Progeroid facial appe... |
OMIM:123700 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Opitz Gbbb Syndrome |
|
Cryptorchidism, Umbilical hernia, Ventricular septal defect |
OMIM:300000 |
Short Stature-Micrognathia Syndrome |
|
Cryptorchidism, Ventricular septal defect |
OMIM:617164 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Cholelithiasis, Ventricular septal defect, Left superior vena cava draining... |
ORPHA:464738 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect |
OMIM:222448 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Supernumerary nippl... |
OMIM:235730 |
Addison Disease |
|
Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Primary testicular f... |
ORPHA:85138 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Coarctation of aorta |
ORPHA:268249 |
Duane-Radial Ray Syndrome |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Vascular dilatation |
OMIM:607323 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Diets-Jongmans Syndrome |
|
Cryptorchidism, Interrupted inferior vena cava with azygous continuation, Umbilical hernia, Ventr... |
OMIM:618846 |
Floating-Harbor Syndrome |
|
Short neck, Cryptorchidism, Low posterior hairline, Coarctation of aorta, Atrial septal defect, U... |
OMIM:136140 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Ctcf-Related Neurodevelopmental Disorder |
|
Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Prolonged neonatal jaundice, Atri... |
ORPHA:363611 |
Serkal Syndrome |
|
Abnormality of the adrenal glands, Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Short neck, Cryptorchidism, Pulmonic stenosis, Webbed neck, Atrial sep... |
OMIM:607721 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Pachygyria, Crypt... |
OMIM:607872 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Cerebral hemorrhage, Precocious puberty, Cryptorchidism, Patent ductus... |
OMIM:616682 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Long neck, Cryptorchidism, Dysplastic tricuspid valve, Abnormal mitral... |
ORPHA:1724 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Ventricular septal defect, Cutis marmorata, Short neck, Cryptorchidism... |
OMIM:122470 |
Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Prematurely aged appearance, Dilatation of the ventricular cavity, Coarctati... |
ORPHA:90348 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Death in adolescence |
OMIM:619229 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Abnormality of neuronal migration |
ORPHA:261236 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Acrocyanosis, Hypohidrosis, Hyperhidrosis |
ORPHA:1764 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism |
OMIM:156400 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocarditis, Vasculitis... |
ORPHA:221 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Kabuki Syndrome |
|
Precocious puberty, Cryptorchidism, Abnormal cardiac septum morphology, Coarctation of aorta |
ORPHA:2322 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Atrial septal defect, Pachygyria |
OMIM:263520 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormal endocardium morphology, Cerebral hemorrhage, Hyperhidrosis, M... |
ORPHA:666 |
Codas Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Cryptorchidism, Atrial septal defect, Atrio... |
OMIM:600373 |
Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection, Umbilical hernia, Ac... |
ORPHA:285 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Cyanosis |
OMIM:610913 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch |
ORPHA:457284 |
Wilson Disease |
|
Hypoparathyroidism, Hepatomegaly, Hemolytic anemia, Splenomegaly, Atypical or prolonged hepatitis... |
OMIM:277900 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula... |
OMIM:615474 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Abnormal h... |
ORPHA:2369 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Goldberg-Shprintzen Syndrome |
|
Pachygyria, Ventricular septal defect, Polymicrogyria, Short neck |
OMIM:609460 |
Distal Deletion 19P |
|
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Frank-Ter Haar Syndrome |
|
Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola... |
OMIM:249420 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Short neck |
OMIM:212066 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Abnormal heart morphology, Diabetes mellitus, Parathyroid hypoplasia |
ORPHA:2237 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ... |
ORPHA:286 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Webbed neck, Ventricular septal defect, Short neck |
OMIM:178110 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Supernumerary nipple, Splenomegaly... |
OMIM:312870 |
Cohen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Neutropenia, Delayed puberty |
ORPHA:193 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Supernumerary nipple, Hypohidrosis |
ORPHA:1071 |
Orofaciodigital Syndrome V |
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Ventricular septal defect, Tetralogy of Fallot, Unilateral cryptorchidism |
OMIM:174300 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Short neck |
ORPHA:251038 |
Chromosome 16P13.3 Duplication Syndrome |
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Ventricular septal defect, Short neck, Cryptorchidism, Webbed neck, Atrial septal defect, Tetralo... |
OMIM:613458 |
Vater/Vacterl Association |
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Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
Floating-Harbor Syndrome |
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Persistence of primary teeth, Precocious puberty, Cryptorchidism, Short neck, Mesocardia, Coarcta... |
ORPHA:2044 |
Sotos Syndrome |
|
Ventricular septal defect, Cryptorchidism, No permanent dentition, Patent ductus arteriosus, Abno... |
ORPHA:821 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Blomstrand Lethal Chondrodysplasia |
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Natal tooth, Coarctation of aorta |
ORPHA:50945 |
Arboleda-Tham Syndrome |
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Ventricular septal defect, Bilateral cryptorchidism, Secundum atrial septal defect, Patent ductus... |
OMIM:616268 |
Acrofacial Dysostosis 1, Nager Type |
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Ventricular septal defect, Patent ductus arteriosus, Urticaria, Tetralogy of Fallot, Polymicrogyria |
OMIM:154400 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Ventricular septal defect, Microcytic anemia, Splenomegaly, Thrombocytopenia, Incre... |
OMIM:619525 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... |
ORPHA:500095 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect |
ORPHA:3078 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Cyanosis, Death in childhood |
OMIM:618426 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy |
OMIM:309801 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect |
OMIM:147800 |
Helix Syndrome |
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Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis |
OMIM:617671 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Ventricular septal defect, Premature thelarche, Autoimmune thrombocytopenia, Cr... |
OMIM:147920 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal... |
OMIM:194050 |
Zttk Syndrome |
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Atrial septal defect, Absent gallbladder, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617140 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Dilatation of the ventricul... |
ORPHA:459070 |
Marfan Syndrome |
|
Reduced subcutaneous adipose tissue, Bicuspid aortic valve, Mitral annular calcification, Mitral ... |
OMIM:154700 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Pachygyria, Cryptorchidism, Increas... |
ORPHA:3472 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus... |
OMIM:268300 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Umbilical hernia, Patent foramen... |
OMIM:613884 |
Oculocerebrorenal Syndrome Of Lowe |
|
Delayed eruption of teeth, Death in infancy, Hyperparathyroidism, Cryptorchidism, Anemia, Abnorma... |
ORPHA:534 |
Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Cryptorchidism, Breast aplasia, Hypoplastic nipples, Delayed puberty |
ORPHA:3138 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Episodic hyperhidrosis, Acrocyanosis |
OMIM:223900 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Ventricular septal defect, Cutis marmorata, Cryptorchidism, Patent duc... |
OMIM:135900 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Webbed neck |
OMIM:117650 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Mullegama-Klein-Martinez Syndrome |
|
Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta |
OMIM:301022 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Cocaine Intoxication |
|
Subarachnoid hemorrhage, Cerebral hemorrhage, Hyperhidrosis, Ischemic stroke, Aortic dissection |
ORPHA:90068 |
Oculodentodigital Dysplasia |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:2710 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Bicuspid aortic valve, Ventricular septal defect, Jaundice, Dilatation of the cerebr... |
OMIM:619475 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Ventricular septal defect |
OMIM:617798 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616449 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Thrombocytopenia |
OMIM:301050 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:619575 |
Peters-Plus Syndrome |
|
Ventricular septal defect, Bilobate gallbladder, Short neck, Cryptorchidism, Patent ductus arteri... |
OMIM:261540 |
Okamoto Syndrome |
|
Redundant neck skin, Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology,... |
ORPHA:2729 |
Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Anemia, Neutropenia |
ORPHA:506 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Ventricular septal defect |
OMIM:619306 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Cryptorchidism, Complete atrioventricular canal defect, Breast aplasia... |
OMIM:617063 |
Chime Syndrome |
|
Ventricular septal defect, Erythema, Tetralogy of Fallot, Acute leukemia, Transposition of the gr... |
ORPHA:3474 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Premature thela... |
ORPHA:268261 |
Femoral-Facial Syndrome |
|
Ventricular septal defect, Maternal diabetes, Cryptorchidism, Pulmonic stenosis, Truncus arteriosus |
OMIM:134780 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Atrial sep... |
OMIM:619522 |
Keutel Syndrome |
|
Ventricular septal defect, Miscarriage, Pulmonary artery hypoplasia, Pulmonic stenosis, Periphera... |
OMIM:245150 |
Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Umbilical hernia, Pachygyria, Ventricular septal defect |
ORPHA:1934 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Ventricular septal defect, Precocious puberty, Cryptorchidism, Biliary tract ab... |
OMIM:194190 |
Costello Syndrome |
|
Redundant neck skin, Ventricular septal defect, Short neck, Mitral valve prolapse, Pulmonic steno... |
OMIM:218040 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defe... |
ORPHA:261552 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Portal hypertension, Situs inversus t... |
OMIM:243800 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism |
OMIM:146255 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
Pallister-Killian Syndrome |
|
Delayed eruption of teeth, Anhidrosis, Ventricular septal defect, Supernumerary nipple, Short nec... |
OMIM:601803 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Periventricular heterot... |
ORPHA:2152 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Short neck, Atrial septal defect, Fragile skin |
OMIM:271640 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect, Miscarriage |
ORPHA:2438 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Primary Hyperoxaluria |
|
Cardiomyopathy, Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Anemia |
OMIM:127000 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Cutis marmorata, Short neck, Cryptorchidism... |
ORPHA:199 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Periventricular heterotopia, Cryptorchidism... |
OMIM:606170 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Periventricular heterotopia, Aortic valve atresia, Gray matter heterot... |
OMIM:619895 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Delayed eruption of teeth, Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valv... |
ORPHA:261537 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Death in childhood, Atrial septal defect, Tetr... |
OMIM:309500 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Erythema, Ventricular septal defect, Hyperhidrosis |
OMIM:614653 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, Ventricular hypertrophy, Mitral stenosis, Ventricular septal defect, T... |
OMIM:143095 |
Townes-Brocks Syndrome 1 |
|
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Umbilical hernia, Tetralogy of F... |
OMIM:107480 |
Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Transient neutropenia, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Broad neck, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic... |
ORPHA:363700 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Hyperactive renin-angiotensin system, Increased circulating renin level, Hyp... |
OMIM:601678 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypoplasia, Axillary a... |
OMIM:181450 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect |
OMIM:272950 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Goodpasture Syndrome |
|
Cyanosis, Anemia |
OMIM:233450 |
Marden-Walker Syndrome |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... |
ORPHA:2461 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Umbilical hernia, Ventricular septal defect, Short neck |
OMIM:620330 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect |
OMIM:301044 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Absent nipple, Ventricular septal defect, Pachygyria, Cryptorchidism, Cardio... |
OMIM:216340 |
Penile Agenesis |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Maternal diabetes |
ORPHA:49 |
Renal Agenesis |
|
Ventricular septal defect |
ORPHA:411709 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |