Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Exostoses, Multiple, Type Iii |
|
Multiple exostoses |
OMIM:600209 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Exostoses Of Heel |
|
Exostoses |
OMIM:133600 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Tricuspid Atresia |
|
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist... |
ORPHA:1209 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Coronary Artery Dissection, Spontaneous |
|
Cystic medial necrosis, Coronary artery dissection |
OMIM:122455 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Oslam Syndrome |
|
Neoplasm, Osteosarcoma |
OMIM:165660 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Micrognathia, Hypoplastic left atrium, Microphthalmia, R... |
OMIM:615524 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Patent Ductus Arteriosus 2 |
|
Patent ductus arteriosus |
OMIM:617035 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Osteosarcoma |
OMIM:260500 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Mmep Syndrome |
|
Mandibular prognathia, Microphthalmia, Ventricular septal defect, Microcephaly |
ORPHA:3434 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Oslam Syndrome |
|
Osteosarcoma |
ORPHA:2760 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Complete atrioventricular canal defect, Atrioventricular canal defect,... |
OMIM:619142 |
Paget Disease Of Bone 3 |
|
Osteosarcoma |
OMIM:167250 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Neoplasm, Osteosarcoma |
OMIM:601811 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Agenesis of cerebellar vermis, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia,... |
OMIM:601322 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Cutis marmorata |
OMIM:615297 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Microcephaly, Complete atrioventr... |
OMIM:619343 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Secondary microce... |
OMIM:614326 |
Feingold Syndrome Type 2 |
|
Short middle phalanx of finger, Short thumb, Ventricular septal defect, Microcephaly |
ORPHA:391646 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Thin corpu... |
OMIM:614249 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Microcephaly, Complete atrioventricula... |
OMIM:264480 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia |
ORPHA:1918 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Microcephaly, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphol... |
ORPHA:1919 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... |
ORPHA:352540 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Cerebral atrophy, Secondary mi... |
OMIM:179613 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:860 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Micrognathia, Missing ribs, Double outlet right ventricle, Hypoplastic... |
OMIM:220210 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Familial Aortic Dissection |
|
Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Desc... |
ORPHA:229 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Microcephaly, Situs inversus totalis, Atrioventricular canal defect, Bilateral supe... |
OMIM:605376 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal defect, Partial absence ... |
ORPHA:476126 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... |
OMIM:616749 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Microcephaly |
ORPHA:3469 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... |
ORPHA:1461 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect |
OMIM:617021 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Microphthalmia, Anophthalmia, Microcephaly |
OMIM:613885 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Microphthalm... |
ORPHA:77298 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Micrognathia |
OMIM:615731 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Microcephaly, Hydranencephaly, Truncus arteriosus, Short distal phalan... |
OMIM:601355 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:99811 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... |
OMIM:115197 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
Cowden Syndrome 7 |
|
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... |
OMIM:616858 |
Down Syndrome |
|
Ventricular septal defect, Short middle phalanx of the 5th finger, Complete atrioventricular cana... |
OMIM:190685 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Mungan Syndrome |
|
Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... |
OMIM:616276 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:618804 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... |
ORPHA:1354 |
Rhizomelic Syndrome |
|
Microcephaly, Rhizomelia, Pulmonic stenosis, Micrognathia |
OMIM:268250 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Cerebral atrophy |
ORPHA:306550 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Bilateral microp... |
OMIM:601186 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of corpus callosum, Dan... |
OMIM:164180 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Microcephaly |
ORPHA:2515 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... |
ORPHA:3426 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis |
OMIM:617877 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect, Micrognathia |
OMIM:608227 |
Buerger Disease |
|
Vasculitis, Acrocyanosis |
ORPHA:36258 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... |
ORPHA:3427 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic a... |
ORPHA:99050 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Microcephaly, Micrognathia, Abnormal aortic morphology, Tetralogy of F... |
ORPHA:1166 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Rhabdoid tumor of the kidney, Atypical teratoid/rhabdoid tumor |
OMIM:613325 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Periventricular leukomalacia, Ventricular septal defect, Microcephaly |
ORPHA:357225 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ... |
OMIM:620070 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb... |
ORPHA:363444 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Micrognathia, Complete atrioventricular canal defect, Short tibia, Fibular hypoplasi... |
OMIM:617925 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect |
OMIM:618354 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Micrognathia, Microcephaly, Transposition of the great arteries, Atria... |
ORPHA:1913 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Malar flattening, Ventricular septal defect, Micrognathia |
ORPHA:1388 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... |
OMIM:600001 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Trisomy 1Q |
|
Microretrognathia, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Cerebellar ... |
ORPHA:261344 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Micrognathia, Microcephaly, Abnormal heart morphology, Coarctation of ... |
ORPHA:2209 |
Hamamy Syndrome |
|
Micrognathia, Complete atrioventricular canal defect, Dental malocclusion, Atrial septal defect, ... |
OMIM:611174 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Hydrolethalus |
|
Anophthalmia, Absent septum pellucidum, Micromelia, Micrognathia, Anencephaly, Microphthalmia, Re... |
ORPHA:2189 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Werner Syndrome |
|
Alopecia of scalp, Meningioma, Osteosarcoma |
OMIM:277700 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Megalencephaly, Abnormal cardiac septum morphology, Macrocephaly, Poly... |
ORPHA:83473 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris... |
ORPHA:3378 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Patent ductus arteriosus |
OMIM:619519 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Hemihyperplasia, Isolated |
|
Myelomeningocele, Nephroblastoma, Embryonal neoplasm |
OMIM:235000 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect |
OMIM:608104 |
Heterotaxy, Visceral, 5, Autosomal |
|
Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent du... |
OMIM:270100 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Ventricular septal defect, Cerebellar hypoplasia, Secondary microcephaly |
OMIM:613730 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Patent ductus arteriosus, Subvalvular aortic stenosis |
ORPHA:1338 |
Pentasomy X |
|
Microcephaly, Micrognathia, Patent ductus arteriosus, Small hand, Short foot, Abnormal cardiac se... |
ORPHA:11 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Macrocephaly, Atrial... |
OMIM:618316 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o... |
ORPHA:1329 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Microcephaly, Cerebellar hypoplasia, Hypoplas... |
OMIM:612946 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Microcephaly, Micrognathia, Abnormal aortic morphology, Truncus arteri... |
ORPHA:2516 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
Diabetic Embryopathy |
|
Ventricular septal defect, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum,... |
ORPHA:1926 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:217 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Short thumb, Patent ductus arte... |
OMIM:612561 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
8Q24.3 Microdeletion Syndrome |
|
Micromelia, Atrioventricular canal defect, Dysplastic aortic valve, Microretrognathia, Short hall... |
ORPHA:508488 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia |
OMIM:614294 |
Diamond-Blackfan Anemia 21 |
|
Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Osteosarcoma |
OMIM:620072 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Co... |
OMIM:236680 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Micrognathia, Microcephaly, Patent ductus art... |
OMIM:618142 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Micrognathia, Shorte... |
OMIM:619135 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Ventricular septal defect |
OMIM:614876 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Tetralogy of Fallot, Microcephaly |
ORPHA:276422 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Secondary microcephaly, Atrial... |
OMIM:618652 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... |
OMIM:268400 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Microcephaly, Hypoplasia of the corpus callosum, Atrial septal defect, M... |
OMIM:300887 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Malar flattening, Microcephaly, Micrognathia |
ORPHA:93946 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, Macrocephaly, Cerebellar hypopla... |
OMIM:301056 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Microcephaly, Patent ductus arteriosus, Cerebral atrophy, Atrial se... |
OMIM:614886 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Missing ribs, Complete atrioventricular canal defect, Mitral valve prolaps... |
OMIM:151100 |
Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Sparse or absent eyela... |
ORPHA:221008 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Cor pulmonale |
OMIM:263000 |
15Q11.2 Microdeletion Syndrome |
|
Thick cerebral cortex, Ventricular septal defect, Microcephaly, Abnormal heart morphology, Coarct... |
ORPHA:261183 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Microcephaly, Short distal phalanx of fin... |
ORPHA:2513 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Sparse or ab... |
ORPHA:221016 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Missing rib... |
OMIM:206900 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Malar flattening, Ventricular septal defect, Aplasia/Hypoplasia of the dis... |
ORPHA:94066 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect |
OMIM:620024 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Aplasia/Hypoplasia of the patella, Complete atrioventricular canal def... |
OMIM:617063 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Delayed eruption of permanent teeth, Ventricular septal defect, Microcephaly |
OMIM:618506 |
Oculoauriculofrontonasal Syndrome |
|
Pericallosal lipoma, Ventricular septal defect, Microcephaly, Micrognathia, Macrocephaly |
ORPHA:398156 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Congenital Heart Block |
|
Cyanosis, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Patent fora... |
ORPHA:60041 |
Fibrous Dysplasia Of Bone |
|
Testicular neoplasm, Elevated circulating growth hormone concentration, Cutaneous myxoma, Ovarian... |
ORPHA:249 |
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Patent ductus arteriosus |
OMIM:122430 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Microcephaly, Carious teeth, Micrognathia, Patent ductus arteriosus, D... |
OMIM:613680 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Microceph... |
OMIM:301043 |
Chronic Intestinal Pseudoobstruction |
|
Patent ductus arteriosus |
ORPHA:2978 |
Lambotte Syndrome |
|
Retrognathia, Ventricular septal defect, Microcephaly |
OMIM:245552 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventricular septal defect, Microcephaly, Micrognathia, Patent ductus arteriosus, Pachygyria, Agen... |
ORPHA:452 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Anomalous pulmonary venous ret... |
ORPHA:392 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Hypoxemia, Atrial sep... |
ORPHA:2847 |
Sotos Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s... |
OMIM:117550 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm |
ORPHA:261102 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Baller-Gerold Syndrome |
|
Lymphoma, Osteosarcoma |
ORPHA:1225 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch... |
OMIM:617478 |
Meckel Syndrome, Type 4 |
|
Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Anencephaly, Hypoplasia o... |
OMIM:611134 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Walker-Warburg Syndrome |
|
Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Macrogyria, Lis... |
ORPHA:899 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Ventricular septal defect, Micrognathia, Microphthalmia, Agenesis of corpus callosum |
ORPHA:93267 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Megalencephaly, Progressive macrocephaly, Microphthalmia, Cavum septum... |
OMIM:602501 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... |
OMIM:616652 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... |
OMIM:158170 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi... |
ORPHA:1908 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microcephaly, Microphthalmia, Inferior cerebellar vermis hypoplasia, Agenesis of co... |
ORPHA:139471 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricusp... |
ORPHA:555874 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Patent ductus arteriosus |
ORPHA:1952 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ... |
ORPHA:244 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode |
OMIM:610992 |
8P23.1 Microdeletion Syndrome |
|
Micrognathia, Microcephaly, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic car... |
ORPHA:251071 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Osteochondroma, B-cell lymphoma, Burkitt lymphoma |
OMIM:620232 |
Neural Tube Defects, Susceptibility To |
|
Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta |
OMIM:182940 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Abnormally large globe, Megalencephaly, Thick corpus callosum, Vascula... |
OMIM:603387 |
Lambert Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Ventricular septal defect |
ORPHA:1296 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Micromelia, Microcephaly, Hypoplastic left heart, Aplasia/Hypoplasia o... |
ORPHA:2772 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Microcephaly, Pulmonic ste... |
OMIM:619123 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... |
ORPHA:371428 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Hypoplasia of the primary... |
ORPHA:90322 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Hypoplasia of the corpus callosum |
OMIM:616816 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy |
OMIM:309801 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Palmoplantar cutis laxa, ... |
OMIM:615355 |
Delpire-Mcneill Syndrome |
|
Agenesis of corpus callosum, Cortical dysplasia, Ventricular septal defect |
OMIM:619083 |
Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Dilated cardiomyopathy |
ORPHA:66634 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect |
OMIM:619227 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Atrial septal defect, Malar fl... |
OMIM:241310 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Hand oligodactyly, Fibular hypoplasia, Interrupted inferior vena cava with azygous ... |
OMIM:206920 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect, Microcephaly |
OMIM:617364 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Jaundice, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:290 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Micrognathia, Right aortic arch, Hypoplasia of the corpus callosum, Hy... |
OMIM:617616 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Cerebellar vermis hypoplasia, Ventricular septal defect, Secundum atrial septa... |
OMIM:619909 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Microcephaly, Hypoplastic left heart, Transposition of t... |
ORPHA:1727 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Macrocephaly, Ventricular septal defect, Abnormally large globe |
OMIM:618504 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Microcephaly |
ORPHA:3033 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Central cyanosis, Ascending tubular aorta aneurysm, Pulmonic stenosis, Sub... |
OMIM:620067 |
Char Syndrome |
|
Patent ductus arteriosus |
OMIM:169100 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Short thumb, Patent ductus arteriosus, Anomalous pulmonary venous return, ... |
ORPHA:1120 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis |
OMIM:602531 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Patent ductus arteriosus, Abnorma... |
ORPHA:500159 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... |
ORPHA:488618 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Aplasia/Hypoplasia of the cerebellum... |
ORPHA:7 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613870 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Microcephaly, Micrognathia, Macular hypoplasia, Atrioventricular canal defect, Retrognathia |
OMIM:613792 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... |
ORPHA:2326 |
Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm |
ORPHA:98892 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Pulmonic stenosis, Chylopericardium |
ORPHA:2414 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Microcephaly |
OMIM:147250 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect |
OMIM:618569 |
Zimmermann-Laband Syndrome 3 |
|
Patent ductus arteriosus |
OMIM:618658 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Renal neoplasm, Alopecia, Abnormal hair morphology, Abnormal hair whorl, ... |
ORPHA:79474 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Micrognathia |
OMIM:243440 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Weill-Marchesani Syndrome |
|
Short thumb, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Dysplastic corpus callosum, Patent ductus arteriosus, Tetralogy of Fal... |
ORPHA:2328 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus |
OMIM:615147 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Abnormally large globe, Secundum atrial septal defect, Micrognathia, D... |
OMIM:249420 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Absent septum pellucidum, Aplastic clavicle, Abnormal cortical gyration, Short thum... |
ORPHA:2538 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Chronic sinusitis, Partial atrioventricular ... |
OMIM:619608 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Anophthalmia, Ventricular septal defect, Dextrocardia, Persistence of ... |
OMIM:300166 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Thin corpus callosum |
OMIM:616277 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Absent septum pellucidum, Microcephaly, Partial agenesis of the corpus... |
OMIM:619895 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Short hallux |
OMIM:620393 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Cerebral calcification, Ventricular septal ... |
ORPHA:1782 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Myelodysplasia, Low anterior hairline, Adenocarcinoma of the colon, Malig... |
ORPHA:124 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cutis marmorata, Transient ischemic attack, Cardiomegaly, Subarachnoid hem... |
ORPHA:91387 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Short thumb, Abnormal heart morphology, Atrial septal defect, Truncus ... |
ORPHA:401935 |
Alg12-Cdg |
|
Biventricular hypertrophy, Muscular ventricular septal defect, Patent ductus arteriosus, Patent f... |
ORPHA:79324 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:616867 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, Secondary microcephaly |
ORPHA:3369 |
Verheij Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, Cerebral atrophy, Short 5th fing... |
OMIM:615583 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal h... |
ORPHA:980 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perim... |
ORPHA:508498 |
Fibular Hemimelia |
|
Anophthalmia, Short femur, Short toe, Fibular hypoplasia, Abnormal heart morphology, Proximal fem... |
ORPHA:93323 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:608779 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... |
OMIM:601005 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of t... |
OMIM:234050 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect |
OMIM:618651 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Ventricular septal defect, Aplasia/Hypoplasia of the fibula, Micrognathia... |
ORPHA:2256 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Ventricular septal defect, Hypoplastic pulmonary veins, Micrognathia, Amelia |
OMIM:618021 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Upper limb undergrowth, Lower limb undergrowth |
OMIM:613630 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Talon c... |
ORPHA:2409 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Cortical dysplasia, Porencephali... |
OMIM:613001 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology |
ORPHA:2412 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia |
OMIM:607598 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Hypoplasia of the maxilla, Simplified gyral pattern, Cerebral atrophy,... |
OMIM:614261 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasi... |
ORPHA:141099 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation |
OMIM:220220 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Hy... |
OMIM:618325 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Filippi Syndrome |
|
Microcephaly, Ventricular septal defect, Serrated incisors |
OMIM:272440 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Atrioventricular canal defect, Aplasia/Hypoplasia affecting the ... |
ORPHA:2549 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Microretrognathia, Microcephaly, Patent ductus arteriosus, Cerebellar hypoplasia, Tricuspid valve... |
ORPHA:276413 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta |
OMIM:616145 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Absent septum pellucidum, Absent thumb, Microc... |
OMIM:609053 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short foot |
ORPHA:228399 |
Joubert Syndrome 18 |
|
Agenesis of cerebellar vermis, Agenesis of corpus callosum, Retrognathia, Ventricular septal defect |
OMIM:614815 |
X-Linked Intellectual Disability, Nascimento Type |
|
Hypointensity of cerebral white matter on MRI, Ventricular septal defect, Hypoplasia of the pons,... |
ORPHA:163956 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Micrognathia, Microcephaly, Partial agenesis of the corpus callosum, Small hand, Simplified gyral... |
OMIM:616051 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Dextrocardia, Secundum atrial septal defect, Hypoxemia, Abnormal pulmonary artery morph... |
ORPHA:2257 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, Dextrocardia |
ORPHA:2863 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
Holoprosencephaly |
|
Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Microcephaly, Aplas... |
ORPHA:2162 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Anophthalmia, Hypoplasia of the maxilla, Tricuspid valve prolapse, Aniridia |
ORPHA:1101 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Microcephal... |
ORPHA:1352 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, Patent ductus arteriosus, Tru... |
OMIM:617516 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Pat... |
OMIM:617751 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Tetralogy of Fallot |
ORPHA:1381 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Absent septum pellucidum, Foot oligodactyly, Amelia |
OMIM:601357 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v... |
ORPHA:335 |
Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Cerebral atrophy, Hypoplas... |
OMIM:616920 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Micrognathia, Microcephaly, Abnormal cardiac ventricle morphology, Patent ... |
ORPHA:2306 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atroph... |
ORPHA:79243 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Patent ductus arteriosus, Hypoplastic left heart |
OMIM:617661 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Patent ductus arteriosus |
ORPHA:1516 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Left superior vena cava draining to coronary sinus, Limb undergrowth, Comm... |
OMIM:619143 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Dandy-Walker ... |
OMIM:616901 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Double outlet right ventricle, Microcephaly |
ORPHA:1667 |
Noonan Syndrome 2 |
|
Relative macrocephaly, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defec... |
OMIM:605275 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Patent ductus arteriosus |
OMIM:610498 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Microcephaly, Retrognathia, Micrognathia |
ORPHA:2521 |
Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:615668 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormal dental enamel morphology, Absent septum pellucidum, Micrognathia, Microcep... |
ORPHA:2556 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... |
OMIM:615009 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Macrocephaly, ... |
OMIM:619769 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Cerebral arteriovenous malforma... |
OMIM:610655 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Diamond-Blackfan Anemia 1 |
|
Basal cell carcinoma, Myelodysplasia, Osteosarcoma |
OMIM:105650 |
Transaldolase Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial... |
OMIM:606003 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplasia of the corpus callosum, Malar fla... |
OMIM:218350 |
Insulin-Like Growth Factor I, Resistance To |
|
Rieger anomaly, Ventricular septal defect, Micrognathia, Microcephaly, Small hand, Short foot, Sh... |
OMIM:270450 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Cerebral white matter atrophy, Ventricular septal defect, Micrognathia, Co... |
ORPHA:435638 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Cerebral atrophy, Abnormal heart morphol... |
OMIM:618494 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Absent radius, Transposition of the great arteries, Atrioventricular... |
OMIM:314390 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy |
ORPHA:444013 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Diffuse cerebral atrophy, Ventricular septal defect, Thin corpus callosum |
OMIM:619908 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Abnormal cortical gyration, H... |
OMIM:610829 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus |
ORPHA:251046 |
Meckel Syndrome |
|
Anophthalmia, Micrognathia, Situs inversus totalis, Microcephaly, Anencephaly, Aplasia/Hypoplasia... |
ORPHA:564 |
Distal Deletion 17Q |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:1597 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Lissencephaly, Secondary microcephaly, Hyper... |
OMIM:612938 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart |
ORPHA:2001 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Microcephaly |
OMIM:609654 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Ventricular septal defect, Micrognathia, Cortical dysplasia, Hypoplasia of the... |
OMIM:617201 |
Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... |
OMIM:612474 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Microcephaly, Small hand, Enamel hypoplasia, Ag... |
OMIM:619980 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Asbestos Intoxication |
|
Cyanosis, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Oxygen desaturation on exertion |
ORPHA:2302 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Hypoplasia of the corpus callosum, Coarctation of aorta |
OMIM:620210 |
Fumarase Deficiency |
|
Perimembranous ventricular septal defect |
OMIM:606812 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Micrognathia, Double outlet right ventricle with doubly co... |
ORPHA:1596 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus... |
ORPHA:90308 |
Lethal Faciocardiomelic Dysplasia |
|
Patent ductus arteriosus, Hypoplastic left heart |
ORPHA:1972 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Anophthalmia, Micrognathia, Hypoplasia of the radius, Microphthalmia, Retr... |
ORPHA:3412 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Short ribs, Hypoplasia of the ... |
ORPHA:2519 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Microcephaly, Dental malocclusion, Coarctation of aorta, Short 5th fin... |
OMIM:300867 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
Emanuel Syndrome |
|
Broad jaw, Ventricular septal defect, Truncus arteriosus, Delayed eruption of primary teeth, Micr... |
OMIM:609029 |
Analbuminemia |
|
Patent ductus arteriosus |
OMIM:616000 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Basal ganglia calcificati... |
ORPHA:90321 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect, Foot oligodactyly |
OMIM:616589 |
Congenital Tracheomalacia |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu... |
ORPHA:95430 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Microcephaly, Micrognathia, Simplified gyral pattern, Pulmonary artery... |
OMIM:616777 |
Prune Belly Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2970 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Micrognathia, Short foot, Agenesis of corpus callosum, Short p... |
ORPHA:264200 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Microcephaly, Micrognathia, Cerebellar hypoplasia, Dandy-Walker malfor... |
ORPHA:3078 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... |
OMIM:157800 |
Fanconi Anemia, Complementation Group N |
|
Short thumb, Ventricular septal defect, Microcephaly |
OMIM:610832 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Ventricular septal defect |
ORPHA:49827 |
Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the ... |
OMIM:113000 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Cerebral atrophy, Microcephaly |
OMIM:617635 |
Charge Syndrome |
|
Anophthalmia, Micrognathia, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect... |
OMIM:214800 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Biparietal narrowing, Microcephaly |
ORPHA:261190 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Microcephaly |
OMIM:613398 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Micrognathia, Cari... |
ORPHA:96097 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect |
OMIM:249270 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Stroke |
OMIM:615812 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Macrocephaly, Retrognathia, Agenesis of corp... |
ORPHA:52055 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Short di... |
OMIM:620073 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... |
ORPHA:1359 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia, Macrocephaly |
OMIM:615877 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Developmental And Epileptic Encephalopathy 66 |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Dextrocardia, Atrial septal defect, Macr... |
OMIM:618067 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Cat Eye Syndrome |
|
Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, Hypoplastic lef... |
OMIM:115470 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Microcephaly, Micrognathia, Atrial septal defect, Malar flattening, Pr... |
OMIM:610536 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mandibular prognathia, Micrognathia |
OMIM:608572 |
Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Abnormal heart morphology,... |
ORPHA:494344 |
Mullegama-Klein-Martinez Syndrome |
|
Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta |
OMIM:301022 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Patent ductus arteriosus |
OMIM:619797 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... |
OMIM:612582 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coarctation of aorta,... |
OMIM:180849 |
Atelis Syndrome 1 |
|
Atrial septal defect, Carious teeth, Ventricular septal defect |
OMIM:620184 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch |
OMIM:614846 |
Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
ORPHA:1842 |
Charge Syndrome |
|
Delayed eruption of teeth, Aortic arch aneurysm, Anophthalmia, Microcephaly, Patent ductus arteri... |
ORPHA:138 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Ventricular septal defect, Microcephaly, Short toe |
OMIM:616651 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Ventricular septal defect, Absent septum pellucidum, Micromelia, Patent ductus... |
OMIM:618870 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Microcephaly |
ORPHA:3306 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Age... |
OMIM:620113 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Telangiectasia, Hypoxemia, Pulmonary arteriovenous fistulas,... |
ORPHA:2038 |
Giant Cell Arteritis |
|
Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent... |
ORPHA:397 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Microcephaly, Biparietal narrowing, Macrocephaly, Aniridia, Microphtha... |
ORPHA:251038 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly |
ORPHA:391428 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Agyria, Hypoplasia of the pyramidal tract, Dilated cardiomyopathy, Myocardial fibrosis, Hypoplasi... |
OMIM:253800 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Chronic sinusitis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Ventricular septal defect, Microcephaly, Atrial septal defect, Patent foramen ... |
OMIM:618950 |
Williams Syndrome |
|
Abnormal endocardium morphology, Aortic arch aneurysm, Overriding aorta, Bicuspid aortic valve, V... |
ORPHA:904 |
Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus |
ORPHA:2123 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:70587 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... |
OMIM:616564 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Atr... |
OMIM:616449 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Abnormal cortical gyration, Microcephaly, Patent ductus arteriosus, Ce... |
OMIM:614576 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Petechiae, Cerebral hemorrhage |
OMIM:617397 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Microcephaly, Lens coloboma, Abnorma... |
ORPHA:42775 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the corpus call... |
OMIM:605627 |
Char Syndrome |
|
Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar... |
ORPHA:46627 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Ventricular septal defect, Micrognathia, Cardiomegaly, Microcephaly, Short ribs, Cer... |
OMIM:616897 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Hypo... |
OMIM:618619 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Coarctation of aorta, Macrocephaly, Atrioventricular canal defect, Agenesis of corp... |
OMIM:618929 |
Galloway-Mowat Syndrome 7 |
|
Microcephaly, Dilated cardiomyopathy, Ventricular septal defect, Micrognathia |
OMIM:618348 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Patent ductus arteriosus |
ORPHA:2547 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Dandy-Walker malformation |
OMIM:147800 |
Alagille Syndrome 2 |
|
Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:610205 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:614857 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:2655 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Upper limb undergrowth, Macrocephaly, Short 3rd metacarpal, Short 4th ... |
OMIM:169400 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:618223 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Patent ductus arteriosus, Telangiectasia |
OMIM:608799 |
Joubert Syndrome 14 |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Agenesis of cerebellar vermis, Intracran... |
OMIM:614424 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Reduced cerebral white matter volume, Pulmo... |
OMIM:280000 |
Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:93274 |
Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Jaundice, Patent foramen ovale, Petechiae |
OMIM:251290 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Microcephaly, Cardiomegaly, Macrocephaly, Periventricular leukomalacia |
OMIM:618798 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Lim... |
OMIM:608149 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Micrognathia, Microcephaly, Lissencephaly, Atrial septal defect, Paten... |
OMIM:208085 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Dental malocclusion, Shortening ... |
OMIM:616202 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Anomalous pulmonary venous return, ... |
ORPHA:99104 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Atrial septa... |
OMIM:210710 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Reduced cerebral white matter volume, Hypoplasia of the brainstem, Sec... |
OMIM:614961 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Varicose veins, Microphthalmia... |
OMIM:153400 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Short clavicles, Short... |
OMIM:617159 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Atrial septal defect, Atrioventricul... |
OMIM:265380 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Pachygyria, Cortical dysplasia, P... |
OMIM:100300 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Atrial sept... |
ORPHA:457193 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Holt-Oram Syndrome |
|
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a... |
OMIM:142900 |
Fanconi Anemia, Complementation Group B |
|
Optic disc hypoplasia, Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Bilater... |
OMIM:300514 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Microcephaly, Hypoplasia of the corpus callosum, Atrial septal defect,... |
OMIM:617452 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the cerebellar vermis, Pulmonary artery stenosis... |
ORPHA:75389 |
Jansen-De Vries Syndrome |
|
Short foot, Ventricular septal defect, Bicuspid aortic valve, Small hand |
OMIM:617450 |
Congenital Tracheal Stenosis |
|
Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypopl... |
ORPHA:141127 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia |
OMIM:616730 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Muscular ventricular septa... |
OMIM:619503 |
Williams-Beuren Region Duplication Syndrome |
|
Patent ductus arteriosus, Cutis marmorata |
OMIM:609757 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Acrocyanosis |
ORPHA:896 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Ventricular septal defect, Truncus arteriosus, Micrognathia... |
ORPHA:96170 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Failure of eruption of permanent teeth, Hypoplasia of the olfactory... |
ORPHA:2250 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Ventricular septal defect, Microcephaly, Micrognathia, Retrognathia |
OMIM:617164 |
Donnai-Barrow Syndrome |
|
Macrocephaly, Ventricular septal defect, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:2143 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth,... |
OMIM:201000 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Cerebral atrophy, Short 5th fi... |
OMIM:220500 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Ventricular septal defect, Micromelia, Hypoplasia of the radius, Short ribs |
OMIM:617895 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect, Recurrent sinusitis, Short distal phalanx o... |
ORPHA:85202 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Patent ductus arteriosus |
ORPHA:171839 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ... |
OMIM:612562 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Ventricular septal defect, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Atrial septal... |
ORPHA:505237 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Patent foramen ovale |
OMIM:616866 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
Tatton-Brown-Rahman Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Encephalomalacia, Macrocephaly, Atrial septal ... |
OMIM:615879 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Patent ductus arteriosus |
OMIM:618961 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Hypoplasia... |
OMIM:600373 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Microcephaly, Focal polymicrogyria, Dysplastic ... |
OMIM:619103 |
Ssr4-Cdg |
|
Patent ductus arteriosus |
ORPHA:370927 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect |
ORPHA:85194 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Absent septum pellucidum, Microcephaly, Conotruncal defect, Coarctation of aorta, Subcortical cer... |
ORPHA:96147 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Short thumb, Patent ductus arteriosus, Atrial septal defect, Microphth... |
OMIM:244300 |
Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery hypo... |
OMIM:300963 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Microcephaly, Retrognathia, Interrupted aortic arch, Pulmonary artery ... |
OMIM:192430 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
19P13.3 Microduplication Syndrome |
|
Microcephaly, Ventricular septal defect, Cerebral atrophy, Micrognathia |
ORPHA:447980 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Atrial septal defect, Microphthalmia, Anophthalmia, Microcephaly |
ORPHA:2526 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Laryngotracheoesophageal Cleft |
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Cyanosis |
ORPHA:2004 |
Atrioventricular Septal Defect 4 |
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Primum atrial septal defect |
OMIM:614430 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
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Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Micrognathia, Hypoplasia of the pons, Microcephaly, Dental malocclusio... |
ORPHA:444072 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Mandibular prognathia, Ventricular septal defect, Bilateral microphthalmos, Abnormal heart morpho... |
ORPHA:369891 |
Desbuquois Syndrome |
|
Ventricular septal defect, Small hand |
ORPHA:1425 |
Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
Manitoba Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:248450 |
Baraitser-Winter Syndrome 1 |
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Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:243310 |
Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Pulmonic sten... |
OMIM:615102 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
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Ventricular septal defect, Microcephaly, Micrognathia, Patent ductus arteriosus, Atrial septal de... |
OMIM:617061 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, Hypoplastic fron... |
OMIM:300712 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Ascending tubular aorta aneur... |
OMIM:309520 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cor... |
OMIM:222448 |
Teebi Hypertelorism Syndrome 1 |
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Natal tooth, Ventricular septal defect, Micrognathia, Small hand, Aortic root aneurysm, Atrial se... |
OMIM:145420 |
Mosaic Trisomy 9 |
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Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Micrognathia, Micromeli... |
ORPHA:99776 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620327 |
Fraser Syndrome 1 |
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Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal cortical gyration, Aplasia/Hypoplasia of ... |
OMIM:219000 |
Tangier Disease |
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Left ventricular hypertrophy, Accelerated atherosclerosis, Coronary artery stenosis, Carotid arte... |
ORPHA:31150 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Hypoxemia, Foam cells, Cyanosis |
ORPHA:747 |
Meckel Syndrome, Type 7 |
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Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis, Ri... |
OMIM:267010 |
Acquired Purpura Fulminans |
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Intracranial hemorrhage, Acrocyanosis, Macular purpura |
ORPHA:49566 |
Craniofacial Microsomia 1 |
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Anophthalmia, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Patent ductus a... |
OMIM:164210 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Cyanosis, Hypoxemia |
ORPHA:79126 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... |
OMIM:612863 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Abnormal pulmonary vein morphology, Cyanosis, Hypoxemia |
ORPHA:199241 |
Odontochondrodysplasia |
|
Patent ductus arteriosus |
ORPHA:166272 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Atrial septal defect, Cavum septum pellucidum, Atriov... |
OMIM:274000 |
Encephalopathy, Ethylmalonic |
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Acrocyanosis, Petechiae |
OMIM:602473 |
Toriello-Carey Syndrome |
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Micrognathia, Microcephaly, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Ce... |
ORPHA:3338 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Excessive wrinkled skin, Patent ductus arteriosus |
ORPHA:1860 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Coarctation of aorta, Short palm, Microphthalmia, Agenes... |
ORPHA:268249 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:589821 |
Hereditary Bullous Dystrophy, Macular Type |
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Acrocyanosis, Abnormal heart morphology |
ORPHA:1867 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
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Ventricular septal defect, Patent ductus arteriosus, Macrocephaly, Retrognathia, Agenesis of corp... |
OMIM:300472 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
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Patent ductus arteriosus |
OMIM:618659 |
Joubert Syndrome 21 |
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Anophthalmia, Hypoplasia of the brainstem, Short ribs, Hypoplasia of the corpus callosum, Chronic... |
OMIM:615636 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Microphthalmia, Micrognathia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
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Osteochondroma |
OMIM:610474 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Cerebellar vermis hypoplasia, Optic disc hypoplasia, Ventricular septal defect, Hypoplasia of the... |
OMIM:619306 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Polysyndactyly With Cardiac Malformation |
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Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Cerebellar vermis hypoplasia, Ventricular septal defect, Short ribs |
OMIM:615630 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu... |
OMIM:601808 |
Phaver Syndrome |
|
Ventricular septal defect, Short thumb, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary ... |
ORPHA:2876 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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11 pairs of ribs, Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary collateral ar... |
OMIM:620025 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Microcephaly, Ventricular septal defect, Lissencephaly, Right ventricular hypertrophy |
OMIM:613404 |
Cooper-Jabs Syndrome |
|
Malar flattening, Ventricular septal defect, Missing ribs |
ORPHA:1488 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, Aplasia/Hypoplasia of th... |
ORPHA:1335 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Cutis marmorata, Abnormal pericardium morphology, Transient ischemic attack, Myocarditis, Vasculi... |
ORPHA:183 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Microretrognathia, Mandibular prognathia, Dilation of Virchow-Robin spaces, Ventricular septal de... |
OMIM:300998 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Ventricular septal defect, Bicuspid aortic valv... |
ORPHA:261494 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, Right ventricular dilatation, Atri... |
OMIM:619472 |
Myopathy With Extrapyramidal Signs |
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Ventricular septal defect, Hypoplastic anterior limbs of the internal capsule, Microcephaly, Peri... |
OMIM:615673 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Ventricular septal defect, Abnormal dental enamel mo... |
ORPHA:1458 |
Distal Deletion 3P |
|
Atrioventricular canal defect, Microcephaly, Micrognathia |
ORPHA:1620 |
Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosi... |
ORPHA:2712 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Ogden Syndrome |
|
Microretrognathia, Pulmonary artery stenosis, Ventricular septal defect, Cerebral atrophy |
ORPHA:276432 |
Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
C Syndrome |
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Short metacarpal, Ventricular septal defect, Micromelia, Micrognathia, Microcephaly, Patent ductu... |
OMIM:211750 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Persistence of primary teeth, Microcephaly, Conotruncal defec... |
OMIM:610253 |
Microphthalmia With Limb Anomalies |
|
Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Venous insufficiency, Shor... |
ORPHA:1106 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, Atrial septal de... |
ORPHA:3047 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Ventricular septal defect, Optic nerve hypoplasia, Hypoplasia of the maxil... |
ORPHA:79345 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces |
OMIM:617190 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormal cardiomyocyte morphology, Cardiomyopathy, Renal artery atherosclerosis, Coronary artery ... |
ORPHA:565612 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Ventricular septal defect, Micrognathia, Microcephaly, Coarctation of aorta, Subvalvu... |
OMIM:614114 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Aortic root aneurysm |
ORPHA:404443 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Short metacarpal, Anophthalmia, Microcephaly, Short metatarsal, Dental... |
OMIM:305600 |
Distal Xq28 Microduplication Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale |
ORPHA:293939 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Microcephaly, Cerebral atrophy, Hypoplasia of t... |
ORPHA:464738 |
Mosaic Trisomy 1 |
|
Microretrognathia, Cerebellar vermis hypoplasia, Ventricular septal defect, Coarctation of aorta,... |
ORPHA:1692 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Short metacarpal, Ventricular septal defect, Micrognathia, Abnormal vena cava morphology, Cerebra... |
ORPHA:166035 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... |
ORPHA:96167 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a... |
ORPHA:2331 |
Carpenter Syndrome |
|
Patent ductus arteriosus |
ORPHA:65759 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Hypoplasia of the maxilla, Broad skull, Patent ductus arteriosus, Micr... |
OMIM:277600 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... |
ORPHA:2255 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... |
ORPHA:289 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Patent ductus arteriosus |
OMIM:619293 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Misalignment of the pulmonary veins |
OMIM:265120 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Mitral valve prolapse, Pulmonic ste... |
ORPHA:3071 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymph... |
OMIM:235510 |
Zaki Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:619648 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Patent ductus arteriosus, Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse |
ORPHA:555877 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Dental malocclusion, Pulmonic stenosis, Macrocephaly, Atrial septal de... |
OMIM:610733 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Small h... |
OMIM:610759 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Cardiomyopathy, C... |
ORPHA:354 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
19Q13.11 Microdeletion Syndrome |
|
Retrognathia, Ventricular septal defect, Microcephaly |
ORPHA:217346 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Dilated cardiomyopathy, Bipariet... |
ORPHA:261250 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Abnormal heart morphology, Ascend... |
ORPHA:453499 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Neurocardiofaciodigital Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Patent ductus arteriosus, Retrognathia, Double inlet ... |
OMIM:619869 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Micrognathia, Microcephaly, Shor... |
OMIM:605039 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... |
OMIM:602782 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus |
OMIM:300048 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
ORPHA:1780 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
Prune Belly Syndrome |
|
Patent ductus arteriosus |
OMIM:100100 |
Trisomy 17P |
|
Patent ductus arteriosus, Aortic valve stenosis, Hypoplastic left heart |
ORPHA:261290 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micrognathia, Absent thumb, Absent ra... |
OMIM:154400 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect, Microcephaly, Micrognathia, Retrognathia, Agenesis of corpus callosum |
OMIM:619312 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Perimembranous ventricular septal defect |
ORPHA:83617 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Short middle... |
OMIM:607932 |
De Barsy Syndrome |
|
Ventricular septal defect, Progeroid facial appearance, Patent ductus arteriosus, Hypoplastic aor... |
ORPHA:2962 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect |
ORPHA:2345 |
Ververi-Brady Syndrome |
|
Transposition of the great arteries, Microcephaly |
OMIM:617982 |
Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Ventricular septal defect, Micrognathia, Microcephaly, Porencephalic cyst... |
ORPHA:1393 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... |
ORPHA:2473 |
Wrinkly Skin Syndrome |
|
Muscular ventricular septal defect, Atrial septal dilatation |
OMIM:278250 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Hypoplasia ... |
ORPHA:254346 |
Filippi Syndrome |
|
Ventricular septal defect, Microcephaly |
ORPHA:3255 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:363528 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Cyanosis |
ORPHA:159 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Cohen Syndrome |
|
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Mitral valve pr... |
ORPHA:193 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short metacarpal, Ventricular septal defect, Micrognathia, Macrocephaly, Short distal phalanx of ... |
OMIM:250410 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria... |
ORPHA:2637 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... |
ORPHA:1600 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pu... |
ORPHA:99106 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, Agenesis of corp... |
OMIM:613457 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Patent ductus arteriosus, Erythema, Flushing |
OMIM:259100 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Micr... |
OMIM:619268 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Ventricular septal defect, Cerebellar hypoplasia, Microcephaly |
OMIM:612530 |
Deafness-Craniofacial Syndrome |
|
Patent ductus arteriosus |
ORPHA:3241 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Mitral valve prolapse, Pulm... |
ORPHA:500 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal defect, Truncus a... |
ORPHA:2008 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Abnormal cerebral wh... |
ORPHA:457279 |
Zellweger Syndrome |
|
Ventricular septal defect, Microcephaly, Micrognathia, Macrocephaly, Polymicrogyria |
ORPHA:912 |
Silver-Russell Syndrome 3 |
|
Patent ductus arteriosus |
OMIM:616489 |
Distal Triplication 15Q |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology |
ORPHA:314588 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm |
OMIM:130720 |
Jacobsen Syndrome |
|
Ventricular septal defect, Micrognathia, Missing ribs, Microcephaly, Macular hypoplasia, Macrocep... |
OMIM:147791 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... |
OMIM:261740 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Microcephaly, Carious teeth, Small hand, Sh... |
OMIM:619229 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
Opitz Gbbb Syndrome |
|
Natal tooth, Ventricular septal defect, Micrognathia, Aplasia/Hypoplasia of the cerebellar vermis... |
ORPHA:2745 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Microcephaly, Thick corpus callosum, Macrocephaly, Hyperi... |
OMIM:617798 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Biparietal narrowing |
ORPHA:1770 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, Dental malocclus... |
OMIM:606232 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,... |
OMIM:610443 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Rhizomelia, Micrognathia, Microceph... |
ORPHA:818 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1790 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Chops Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve... |
OMIM:616368 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries |
OMIM:313850 |
Czech Dysplasia |
|
Osteochondroma |
OMIM:609162 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia of the skin, Cutis marmorata, Patent ductus arteriosus, Arterial stenosis, Arterio... |
ORPHA:1556 |
Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:605130 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Microcephaly, Hypoplasia of the maxilla, Small hand, Hypoplasia of the... |
OMIM:609460 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... |
OMIM:617506 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613309 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Short... |
ORPHA:2438 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
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Ventricular septal defect, Microcephaly, Small cerebral cortex, Hypoplasia of the corpus callosum... |
OMIM:617360 |
Mosaic Trisomy 16 |
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Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Abnormal heart morphol... |
ORPHA:1708 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
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Atrial septal defect, Patent ductus arteriosus |
ORPHA:397709 |
Orofaciodigital Syndrome Type 2 |
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Natal tooth, Micrognathia, Adactyly, Talon cusp, Central retinal vessel vascular tortuosity, Hypo... |
ORPHA:2751 |
Yunis-Varon Syndrome |
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Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... |
ORPHA:3472 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Restrictive cardiomyopathy, Patent ductus arteriosus |
OMIM:615398 |
Meckel Syndrome 14 |
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Cyanosis, Single ventricle |
OMIM:619879 |
Congenital Disorder Of Glycosylation, Type Iia |
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Mandibular prognathia, Ventricular septal defect, Microcephaly, Cerebellar hypoplasia, Macrocepha... |
OMIM:212066 |
Congenital Disorder Of Glycosylation, Type Ig |
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Patent ductus arteriosus, Patent foramen ovale |
OMIM:607143 |
Coffin-Siris Syndrome 7 |
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Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Coffin-Siris Syndrome 4 |
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Ventricular septal defect, Mitral atresia, Microcephaly, Patent ductus arteriosus, Short phalanx ... |
OMIM:614609 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Ventricular septal defect, Short ribs, Macrocephaly |
OMIM:615503 |
Fucosidosis |
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Acrocyanosis, Vascular skin abnormality, Cardiomegaly |
ORPHA:349 |
17Q23.1Q23.2 Microdeletion Syndrome |
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Atrial septal defect, Patent ductus arteriosus |
ORPHA:261279 |
Orofaciodigital Syndrome Xiv |
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Microretrognathia, Natal tooth, Cerebellar vermis hypoplasia, Ventricular septal defect, Microgna... |
OMIM:615948 |
King-Denborough Syndrome |
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Ventricular septal defect |
OMIM:619542 |
Cantú Syndrome |
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Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
2Q31.1 Microdeletion Syndrome |
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Ventricular septal defect, Micrognathia, Microcephaly, Short foot, Short palm, Atrial septal defe... |
ORPHA:251014 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology |
OMIM:217980 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... |
OMIM:618775 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Atrial septal defect, Patent ductus arteriosus, Dextrocardia |
OMIM:277380 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Ventricular septal defect, Carious teeth, Coarctation of aorta, Aortic root aneurysm, Atrial sept... |
OMIM:617602 |
Tetrasomy 5P |
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Cyanosis |
ORPHA:3309 |
Chromosome 10Q26 Deletion Syndrome |
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Atrial septal defect, Patent ductus arteriosus |
OMIM:609625 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Ventricular septal defect, Micrognathia, Microcephaly, Aplasia of the distal phalanx of the 5th t... |
OMIM:608670 |
Sepsis In Premature Infants |
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Jaundice, Cyanosis, Petechiae, Purpura |
ORPHA:90051 |
Ventriculomegaly With Cystic Kidney Disease |
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Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Alagille Syndrome |
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Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Atrial septal defect, Peripheral... |
ORPHA:52 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Atrial septal defect, Patent ductus arteriosus, Bruising susceptibility |
OMIM:618162 |
Duane-Radial Ray Syndrome |
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Hypoplasia of the ulna, Short humerus, Optic disc hypoplasia, Ventricular septal defect, Absent t... |
OMIM:607323 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Encephalocele, Exencephaly |
ORPHA:2211 |
White-Sutton Syndrome |
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Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:616364 |
Eisenmenger Syndrome |
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Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal he... |
ORPHA:97214 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... |
OMIM:610168 |
Mucopolysaccharidosis-Plus Syndrome |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
OMIM:617303 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Ventricular septal defect, Microcephaly, Small hand, Ventricular septal hypertrophy, Abnormal cer... |
OMIM:614947 |
Robinow Syndrome, Autosomal Dominant 3 |
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Ventricular septal defect, Hypoplastic right heart, Micrognathia, Patent ductus arteriosus, Denta... |
OMIM:616894 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Cyanosis |
OMIM:619580 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Relative macrocephaly, Ventricular septal defect, Micrognathia, Microcephaly, Dental malocclusion... |
ORPHA:251028 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Ventricular septal defect, Thyroid lymphangiectasia, Micrognathia, Pancreatic lymphangiectasis, P... |
OMIM:235255 |
Chromosome 13Q14 Deletion Syndrome |
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Ventricular septal defect, Absent septum pellucidum, Micrognathia, Patent foramen ovale, Hypoplas... |
OMIM:613884 |
Tarp Syndrome |
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Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Cyanosis |
ORPHA:2886 |
Distal Deletion 10Q |
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Atrial septal defect, Patent ductus arteriosus |
ORPHA:96148 |
Distal Deletion 19P |
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Hypoplasia of the maxilla, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve pr... |
ORPHA:96129 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Patent ductus arteriosus, Ventricular septal defect, Prolonged neonatal jaundice |
OMIM:214100 |
Takenouchi-Kosaki Syndrome |
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Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis |
OMIM:616737 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Ventricular septal defect, Micrognathia, Abnormally large globe, Pancreatic lymphangiectasis, Pul... |
ORPHA:1655 |
Orofaciodigital Syndrome V |
|
Agenesis of corpus callosum, Tetralogy of Fallot, Ventricular septal defect, Microcephaly |
OMIM:174300 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Atrial septal defect, Patent ductus arteriosus |
OMIM:618005 |
Fanconi Anemia, Complementation Group C |
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Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia |
OMIM:227645 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Microcephaly, Patent ductu... |
OMIM:618454 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Cyanosis |
ORPHA:488627 |
Tako-Tsubo Cardiomyopathy |
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Dilatation of the ventricular cavity, Coronary artery stenosis, Abnormal coronary artery morpholo... |
ORPHA:66529 |
Atrial Septal Defect, Ostium Secundum Type |
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Cyanosis, Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve ... |
ORPHA:99103 |
Van Esch-O'Driscoll Syndrome |
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Ventricular septal defect, Microcephaly, Pulmonary artery stenosis, Retrognathia, Cerebral atroph... |
OMIM:301030 |
Focal Dermal Hypoplasia |
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Telangiectasia of the skin, Ventricular septal defect, Patent ductus arteriosus, Erythema, Abnorm... |
ORPHA:2092 |
D-Glyceric Aciduria |
|
Patent ductus arteriosus |
OMIM:220120 |
Histiocytoid Cardiomyopathy |
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Stroke-like episode, Cyanosis, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Left ventricular hypertrophy, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:619148 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Ventricular septal defect, Hypoplasia of the maxilla, Broad skull, Patent ductu... |
OMIM:608328 |
Chime Syndrome |
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Ventricular septal defect, Aplastic clavicle, Supernumerary tooth, Tetralogy of Fallot, Aplasia/H... |
ORPHA:3474 |
Short-Rib Thoracic Dysplasia 12 |
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Natal tooth, Hypoplastic scapulae, Ventricular septal defect, Short toe, Patent ductus arteriosus... |
OMIM:269860 |
Syndromic Diarrhea |
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Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:84064 |
Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Micrognathia, Carious teeth, Microcephaly, Coarctation of aorta, Hypop... |
OMIM:244450 |
Robinow Syndrome |
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Ventricular septal defect, Micrognathia, Persistence of primary teeth, Missing ribs, Mesomelic ar... |
ORPHA:97360 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Hypoplasia of the pons, Mi... |
OMIM:616975 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, 10 pairs of ribs, Short humerus, Ventricular septal defect, Micrognathia, Cario... |
OMIM:117650 |
Doors Syndrome |
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11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Microcephaly, Delayed erupt... |
ORPHA:79500 |
Trichothiodystrophy |
|
Ventricular septal defect, Cerebral dysmyelination, Hypoplasia of mandible relative to maxilla, C... |
ORPHA:33364 |
Myhre Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Microcephaly, Pericardial effusion, Hypoplasia ... |
OMIM:139210 |
Mirage Syndrome |
|
Intracranial hemorrhage, Patent ductus arteriosus, Petechiae |
OMIM:617053 |
Esophageal Atresia |
|
Tetralogy of Fallot, Ventricular septal defect, Cyanosis, Coarctation of aorta |
ORPHA:1199 |
Tbck-Related Intellectual Disability Syndrome |
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Mandibular prognathia, 11 pairs of ribs, Ventricular septal defect, Microcephaly, Macrocephaly, P... |
ORPHA:488632 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Relative macrocephaly, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:300967 |
Tolchin-Le Caignec Syndrome |
|
Osteochondroma, Thick eyebrow, Hirsutism, Cardiac rhabdomyoma |
OMIM:618971 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Macrocephaly, Atrial sep... |
ORPHA:26793 |
Congenital Myasthenic Syndrome |
|
Cyanosis |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98914 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Sim... |
ORPHA:1465 |
Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Ventricular septal defect, Progeroid facial appearance, Poor wound h... |
OMIM:123700 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Ventricular septal defect, Malar flattening, Micrognathia |
ORPHA:2789 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:79329 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:618076 |
7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus after birth at term |
ORPHA:251061 |
Unilateral Polymicrogyria |
|
Cyanosis, Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology |
ORPHA:268943 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Ventricular septal defect, Micrognathia, Situs inversus totalis, Microceph... |
OMIM:309500 |
Fanconi Anemia, Complementation Group U |
|
Patent ductus arteriosus |
OMIM:617247 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Micrognathia, Microcephaly, Short thumb, Short toe... |
OMIM:164280 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Agenesis of corpus callosum, Ventricular septal defect, Microcephaly |
ORPHA:261236 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Aorti... |
ORPHA:96121 |
3Q29 Microdeletion Syndrome |
|
Patent ductus arteriosus, Subvalvular aortic stenosis |
ORPHA:65286 |
3Mc Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Conjunctival telangiec... |
OMIM:257920 |
Trisomy 18 |
|
Microretrognathia, Ventricular septal defect, Microcephaly, Anencephaly, Aplasia/Hypoplasia of th... |
ORPHA:3380 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Micrognathia, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aorta |
OMIM:614921 |
Sweeney-Cox Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:617746 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse |
ORPHA:251066 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Agenesis of cerebellar vermis, Micrognathia, Microcephaly, Short thumb, Cleft of ch... |
OMIM:113620 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Patent ductus arteriosus, Abnormal aortic valve morphology |
ORPHA:86818 |
Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus |
ORPHA:33001 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia, Dental malocclusion, Microcephaly |
ORPHA:2052 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Ventricular septal defect, Micromelia, Micrognathia, Patent ductus arteriosus, A... |
OMIM:256520 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage |
ORPHA:369929 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Microcephaly, Aortic aneurysm, Short palm, Atrial septal defect, Malar... |
ORPHA:261330 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, Microp... |
ORPHA:306542 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Aortic valve stenosis, Ventricular septal defect, Microcephaly |
OMIM:272950 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch |
ORPHA:250989 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Mitral valve prolapse |
OMIM:104350 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Absent septum pellucidum, Micrognathia, Situs inversus t... |
ORPHA:2461 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Cerebral calcification, Short hallux, Short thumb, Shorteni... |
OMIM:245150 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Ventricular septal defect, Micrognathia, Partial agenesi... |
OMIM:300373 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612541 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Microcephaly, Broad skull, Patent ductus arteriosus, Intracranial hemo... |
ORPHA:163979 |
Marshall-Smith Syndrome |
|
Microretrognathia, Prominence of the premaxilla, Ventricular septal defect, Optic nerve hypoplasi... |
OMIM:602535 |
Gorlin-Chaudhry-Moss Syndrome |
|
Patent ductus arteriosus |
ORPHA:2095 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:603467 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect, Oxygen desaturation on exertion, Hypoxemia |
OMIM:610978 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta |
OMIM:617260 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Microcephaly, Agenesis of corpus callosum, Abnormal cardiac septum mor... |
ORPHA:209905 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Micrognathia, Microcephaly, Increased axial length of the globe, Right... |
ORPHA:513456 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:300968 |
Desmosterolosis |
|
Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:35107 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Ventricular septal defect, Micrognathia, Pulmonary artery stenosis, Fi... |
OMIM:258315 |
Pulmonary Alveolar Microlithiasis |
|
Mitral valve calcification, Cyanosis, Calcification of the aorta, Hypoxemia, Oxygen desaturation ... |
ORPHA:60025 |
Multiple Osteochondromas |
|
Osteochondroma, Chondrosarcoma, Rib exostoses, Scapular exostoses |
ORPHA:321 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Micrognathia, Dysplastic tricuspid valve, Abnormal mitral valve morpho... |
ORPHA:1724 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Prominent superficial blood vessels, Mitral ... |
ORPHA:740 |
Lymphatic Malformation 13 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620244 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:600268 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Patent ductus arteriosus, Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic c... |
OMIM:610505 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect, Hypertrophic cardiomyo... |
ORPHA:505248 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Upper limb undergrowth, Aortic root aneurysm, L... |
ORPHA:96201 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Sacral lipoma |
OMIM:600145 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Supernumerary tooth, Patent ductus arteriosus, Coarctation of aorta, Short ribs, Short clavicles,... |
OMIM:617088 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Micrognathia, Cardiomegaly, Patent ductus arteriosus, Retrognathia |
ORPHA:96191 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arter... |
ORPHA:261337 |
Ivic Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:147750 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial dissection, Arterial tortuosity, Patent ductus arteriosus, Abnormal heart morphology, Di... |
ORPHA:284984 |
Hardikar Syndrome |
|
Ventricular septal defect, Jaundice, Partial anomalous pulmonary venous return, Patent ductus art... |
OMIM:301068 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Atrial septal defect, Aortic valve stenosis, Patent ductus arteriosus, Situs inversus totalis |
OMIM:208540 |
Alg9-Cdg |
|
Microretrognathia, Ventricular septal defect, Rhizomelia, Micrognathia, Pericardial effusion, Cer... |
ORPHA:79328 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Cerebral calcification, Ventricular septal defect, Abnormal dental enamel ... |
ORPHA:2710 |
Ethylene Glycol Poisoning |
|
Cyanosis, Renal tubular epithelial necrosis |
ORPHA:31826 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:614080 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Restrictive cardiomyopathy, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:369837 |
Feingold Syndrome |
|
Patent ductus arteriosus |
ORPHA:1305 |
Gm1-Gangliosidosis, Type Ii |
|
Patent ductus arteriosus |
OMIM:230600 |
Juvenile Polyposis Of Infancy |
|
Atrial septal defect, Patent ductus arteriosus, Subcutaneous lipoma, Abnormal heart morphology |
ORPHA:79076 |
Atelis Syndrome 2 |
|
Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Cyanosis |
OMIM:610913 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Ventricular septal defect, Microcephaly, Supernumerary tooth, Partial agenesis... |
ORPHA:434179 |
Hereditary Orotic Aciduria |
|
Patent ductus arteriosus |
ORPHA:30 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa... |
ORPHA:17 |
Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:618268 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Patent foramen ovale, Perip... |
ORPHA:280633 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Cyanosis |
OMIM:610921 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1051 |
Opitz Gbbb Syndrome |
|
Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly |
OMIM:300000 |
Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Micrognathia, Supernumerary tooth... |
ORPHA:1507 |
Loeys-Dietz Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Bruising s... |
ORPHA:60030 |
Pallister-Hall Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the aorta |
OMIM:146510 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale |
ORPHA:457395 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Mitral stenosis, Micrognathia, Absent frontal sinuses, Hypoplastic 5th... |
ORPHA:955 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Retinal arteriolar tortuosity, Pa... |
ORPHA:567 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect, Microcephaly |
OMIM:178110 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect |
ORPHA:464311 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... |
OMIM:615582 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Patent ductus arteriosus, Telangiectasia |
ORPHA:495818 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteochondroma, Sparse scalp hair, Bilateral cryptorchidism, Osteoma, Rib exostoses, Scapular exo... |
OMIM:150230 |
Prader-Willi Syndrome Due To Translocation |
|
Patent ductus arteriosus, Patent foramen ovale, Abnormal heart morphology |
ORPHA:177907 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cyanosis, Medial calcification of large arteries, Transient ischemic att... |
ORPHA:51608 |
Desmosterolosis |
|
Patent ductus arteriosus, Total anomalous pulmonary venous return |
OMIM:602398 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Cyanosis, Concentric hypertrophic cardiomyopathy |
OMIM:252010 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Partial agenesis of the corpus callosum, Coarctation of aorta, Atrioven... |
OMIM:619480 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Ventricular septal defect, Microcephaly, Hypoplasia of the corpus callosum, Ag... |
OMIM:619418 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Microcephaly, Primary microcephaly, Patent ductus arteriosus, Hypoplas... |
ORPHA:464306 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Ventricular septal defect |
OMIM:611812 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Cardiomyopathy, Ischemic stroke, Vasculit... |
ORPHA:48435 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypoxemia, Patent ductus arteriosus |
ORPHA:2282 |
Hyperparathyroidism, Transient Neonatal |
|
Patent ductus arteriosus, Stroke |
OMIM:618188 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Bruising susceptibility, Abnormal heart morphology |
OMIM:227646 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Microcephaly, Aplas... |
OMIM:235730 |
Weaver Syndrome |
|
Patent ductus arteriosus |
OMIM:277590 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1519 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Micrognathia, Abnormal heart morphology, Mitral valve prola... |
ORPHA:363700 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Ventricular septal defect |
OMIM:243150 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Microretrognathia, Ventricular septal defect, Microcephaly, Dilatation of ... |
ORPHA:459070 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Microcephaly, Agenesis of maxillary lateral incisor, Short c... |
OMIM:309800 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Microgna... |
ORPHA:1071 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ... |
ORPHA:466791 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Patent ductus arteriosus, Bruising susceptibility, Aortic rupture |
OMIM:614557 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Disproportionate shortening of the tibia... |
OMIM:263520 |
Fanconi Anemia |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, A... |
ORPHA:84 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Ventricular septal defect, Micromelia, Micrognathia, Microcephaly, Hyp... |
OMIM:122470 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Ventricul... |
OMIM:134780 |
Leigh Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Ventricular septal d... |
ORPHA:506 |
Fryns Syndrome |
|
Microretrognathia, Ventricular septal defect, Short thumb, Hypoplasia of the optic tract, Hypopla... |
OMIM:229850 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Micrognathia, Macrogyria, Cerebellar hypoplasia, Atrial septal defect,... |
OMIM:614866 |
Poems Syndrome |
|
Pericardial effusion, Acrocyanosis |
ORPHA:2905 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata, Peripheral arterial stenosis |
OMIM:259900 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Atrial septal defect, Prominent superficial veins, Bicuspid ... |
OMIM:612289 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... |
OMIM:163950 |
Cranioectodermal Dysplasia 2 |
|
Patent ductus arteriosus, Ectodermal dysplasia, Atrial septal defect, Left ventricular hypertroph... |
OMIM:613610 |
Zttk Syndrome |
|
Relative macrocephaly, Ventricular septal defect, Hypoplasia of the maxilla, Dysplastic corpus ca... |
OMIM:617140 |
Knobloch Syndrome |
|
Patent ductus arteriosus, Dextrocardia |
ORPHA:1571 |
Frontometaphyseal Dysplasia 2 |
|
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:617137 |
Acrofacial Dysostosis, Cincinnati Type |
|
Patent ductus arteriosus |
OMIM:616462 |
Khan-Khan-Katsanis Syndrome |
|
Bilateral superior vena cava with no bridging vein, Patent foramen ovale, Patent ductus arteriosu... |
OMIM:618460 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Carious teeth, Supernumerary tooth... |
ORPHA:353281 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:213980 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Relative macrocephaly, Ventricular septal defect, Pulmonic stenosis, Macrocephaly, Atrial septal ... |
OMIM:607721 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Microcephaly, Dental ma... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Microcephaly, Dental ma... |
ORPHA:352665 |
Myasthenia Gravis |
|
Acrocyanosis |
ORPHA:589 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Cardiomegaly, Calcification of the aorta, Aortic aneurysm, Prolonged neonatal ja... |
ORPHA:51 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Abnormal basal ganglia MRI signal intensity, Ventricular septal d... |
ORPHA:672 |
Aymé-Gripp Syndrome |
|
Pericardial effusion, Pericarditis, Patent ductus arteriosus |
ORPHA:1272 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic root aneur... |
ORPHA:444077 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema, Vasculitis, Cutaneous photosensi... |
ORPHA:221 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620005 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten... |
OMIM:616268 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Microcephaly, Partial anomalous pulmonary venous return, Small hand, S... |
OMIM:301044 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:102500 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Cardiomyopathy, Atrial septal defect, Advanced ... |
ORPHA:769 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Mitral valve prolapse, Aortic root aneurysm, Dil... |
ORPHA:287 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Pulmonary artery dilatation, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inve... |
OMIM:619534 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormally large globe, Microcephaly, Abnormal left ventricle morpholo... |
ORPHA:2729 |
Hunter-Macdonald Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Mitral valve prolapse |
OMIM:611962 |
Degcags Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Premature graying of hair, Persistent left s... |
OMIM:619488 |
Early Infantile Epileptic Encephalopathy |
|
Diffuse cerebral atrophy, Ventricular septal defect, Microcephaly, Diffuse white matter abnormali... |
ORPHA:1934 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Ventricular septal defect, Aplasia o... |
OMIM:181450 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Short thumb, Short toe, Atrial septal defect, Tetralogy ... |
OMIM:613458 |
Larsen Syndrome |
|
Short metacarpal, Ventricular septal defect, Short metatarsal, Atrial septal defect, Malar flatte... |
OMIM:150250 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Patent ductus arteriosus, Total anomalous pulmonary venous return, Abnormal heart morphology |
ORPHA:487796 |
Jacobsen Syndrome |
|
Ventricular septal defect, Missing ribs, Short toe, Cerebral atrophy, Coarctation of aorta, Hypop... |
ORPHA:2308 |
Ulnar-Mammary Syndrome |
|
Aplasia/Hypoplasia of the ulna, Ventricular septal defect, Absent hand, Short distal phalanx of f... |
ORPHA:3138 |
Tropical Endomyocardial Fibrosis |
|
Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Myocardial calcification... |
ORPHA:75565 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Severe photosensitivity, Coarctation of aort... |
OMIM:270400 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Ventricular septal defect, Microcephaly |
OMIM:259770 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Mitral valve pro... |
OMIM:194050 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:300990 |
Distal Deletion 12Q |
|
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Patent foramen ovale |
ORPHA:96149 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Patent ductus arteriosus |
OMIM:616300 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Cardiomyopathy, Patent ductus arteriosus, Aortic root aneurysm |
OMIM:135500 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Atrial septal defect, Pachygyria, Agenesis of corpus callosum, Patent fora... |
OMIM:607872 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Thoracic aortic aneurysm |
OMIM:619351 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:300868 |
Immunodeficiency 87 And Autoimmunity |
|
Atrial septal defect, Atrioventricular canal defect, Dilated cardiomyopathy, Biventricular hypert... |
OMIM:619573 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Hypoplastic scapulae, Ventricular septal defect, Micrognathia, Hypoplasia ... |
ORPHA:96334 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Carious teeth, Super... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Carious teeth, Super... |
ORPHA:353277 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Microcephaly, Supernumerary tooth... |
ORPHA:268261 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis |
OMIM:223900 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... |
ORPHA:438213 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Macrocephaly |
OMIM:619575 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Abnormal heart valve morphology, Patent ductus arteriosus, Dilated cardiomy... |
ORPHA:1606 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery ste... |
OMIM:118450 |
Liver Disease, Severe Congenital |
|
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... |
OMIM:619991 |
Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Macrocephaly, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Primary Hyperoxaluria |
|
Cardiomyopathy, Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Short metacarpal, Ventricular septal defect, Bicuspid aortic valve, Micrognathi... |
OMIM:271640 |
Meckel Syndrome, Type 1 |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Vascular dilatation, Coarctation of... |
OMIM:249000 |
3-Methylglutaconic Aciduria, Type Viii |
|
Patent ductus arteriosus, Jaundice |
OMIM:617248 |
Renal Agenesis |
|
Ventricular septal defect |
ORPHA:411709 |
Limb Body Wall Complex |
|
Ventricular septal defect, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Ap... |
ORPHA:2369 |
Turnpenny-Fry Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, ... |
OMIM:618371 |
Ctcf-Related Neurodevelopmental Disorder |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta, Prolonged neonatal jaundice |
ORPHA:363611 |
Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia of the clavicles, Dextrocardia, Micrognathia, Patent ductus arter... |
ORPHA:1662 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Short toe, Short foot, Cardiomyopathy, Macrocep... |
ORPHA:373 |
X-Linked Intellectual Disability, Armfield Type |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:85276 |
Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Ventricular septal defect, Absent septum pellucidum, Short hallux, Micrognathia, ... |
OMIM:194190 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis |
OMIM:618426 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Intraventricular hemorrhage, Abno... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Intraventricular hemorrhage, Abno... |
ORPHA:363958 |
Costello Syndrome |
|
Ventricular septal defect, Micrognathia, Cerebral atrophy, Mitral valve prolapse, Pulmonic stenos... |
OMIM:218040 |
Roberts-Sc Phocomelia Syndrome |
|
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Micrognathia, Aplasia of the ul... |
OMIM:268300 |
Vater/Vacterl Association |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... |
OMIM:192350 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges ... |
OMIM:135900 |
17Q24.2 Microdeletion Syndrome |
|
Patent ductus arteriosus after birth at term, Pulmonic stenosis |
ORPHA:529962 |
Diets-Jongmans Syndrome |
|
Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, Thick corpus... |
OMIM:618846 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Patent ductus arteriosus |
OMIM:619934 |
Trichohepatoenteric Syndrome 1 |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:222470 |
Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Short metatarsal, Absent hallux, Pachygyria, Patent f... |
OMIM:216340 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Hypoplasia of the ulna, Short metacarpal, Delayed eruption of teeth, Ven... |
OMIM:143095 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve |
OMIM:613355 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Micrognathia, Microcephaly, Patellar aplasi... |
OMIM:606170 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v... |
ORPHA:500095 |
Treacher-Collins Syndrome |
|
Patent ductus arteriosus |
ORPHA:861 |
Peters-Plus Syndrome |
|
Short metacarpal, Ventricular septal defect, Rhizomelia, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:261540 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Short palm, Cerebellar vermis hypoplasia, Ventricular septal defect, Paten... |
OMIM:312870 |
Digeorge Syndrome |
|
Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, Recurrent sinusi... |
OMIM:188400 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... |
OMIM:614976 |
Knobloch Syndrome 2 |
|
Patent ductus arteriosus |
OMIM:618458 |
Craniotubular Dysplasia, Ikegawa Type |
|
Macrocephaly, Ventricular septal defect, Short palm |
OMIM:619727 |
Pitt-Hopkins Syndrome |
|
Acrocyanosis |
ORPHA:2896 |
Restrictive Dermopathy 1 |
|
Atrial septal defect, Prominent superficial blood vessels, Patent ductus arteriosus |
OMIM:275210 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect |
OMIM:614653 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:619841 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Ventricular septal defect, Optic nerve hypop... |
OMIM:620330 |
Peters Plus Syndrome |
|
Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ... |
ORPHA:709 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Supernumerary tooth, Tetralogy of Fallot, Ventricular septal defect, Micrognathia |
OMIM:619525 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis |
ORPHA:293987 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Patent ductus arteriosus |
ORPHA:1112 |
Kabuki Syndrome 1 |
|
Ventricular septal defect, Microcephaly, Micrognathia, Coarctation of aorta, Short 5th finger, At... |
OMIM:147920 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Large basal ganglia, ... |
ORPHA:261552 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Aplasia/Hypoplasia of the cerebellum, Micro... |
ORPHA:199 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Ventricular septal defect, Microcephaly, Carious teeth, Short thumb, Patent ductus arteriosus, Sh... |
OMIM:619522 |
Sotos Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic aneurysm, ... |
ORPHA:821 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus after birth at term, Abnormal heart morpholog... |
ORPHA:500150 |
Knobloch Syndrome 1 |
|
Patent ductus arteriosus |
OMIM:267750 |
Townes-Brocks Syndrome |
|
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... |
ORPHA:857 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Dilatation of the cerebral artery... |
OMIM:619475 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus |
ORPHA:480880 |
Cohen-Gibson Syndrome |
|
Patent ductus arteriosus |
OMIM:617561 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect |
ORPHA:436252 |
Townes-Brocks Syndrome 1 |
|
Ventricular septal defect, Microcephaly, Short metatarsal, Aplasia/Hypoplasia of the 3rd toe, Atr... |
OMIM:107480 |
Lacrimoauriculodentodigital Syndrome |
|
Patent ductus arteriosus |
ORPHA:2363 |
Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Ascending tubular aorta aneurysm, Acrocyanosis, Arterial dissection |
ORPHA:285 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Abnormal heart morpholog... |
ORPHA:2152 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
Pallister-Killian Syndrome |
|
11 pairs of ribs, Delayed eruption of teeth, Relative macrocephaly, Ventricular septal defect, Rh... |
OMIM:601803 |
Goodpasture Syndrome |
|
Cyanosis |
OMIM:233450 |
Johanson-Blizzard Syndrome |
|
Ventricular septal defect, Microcephaly, Situs inversus totalis, Dilated cardiomyopathy, Atrial s... |
OMIM:243800 |
Penile Agenesis |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49 |