Cayler Cardiofacial Syndrome |
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Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
Lambert Syndrome |
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Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Mesoaxial Hexadactyly And Cardiac Malformation |
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Ventricular septal defect, Atrial septal defect, Torticollis, Short stature, Patent ductus arteri... |
OMIM:249670 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
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Abnormal tricuspid valve morphology, Patent ductus arteriosus |
ORPHA:1208 |
Patent Ductus Arteriosus 1 |
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Patent ductus arteriosus |
OMIM:607411 |
Patent Ductus Arteriosus 3 |
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Patent ductus arteriosus |
OMIM:617039 |
Verheij Syndrome |
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Branchial cyst, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect, S... |
OMIM:615583 |
Megabladder, Congenital |
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Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... |
OMIM:618719 |
Atrial Septal Defect 2 |
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Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
Neuronal Intestinal Pseudoobstruction |
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Natal tooth, Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:99811 |
X-Linked Mandibulofacial Dysostosis |
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Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Short stature, Pulmonic stenosis |
ORPHA:1131 |
Distal 7Q11.23 Microduplication Syndrome |
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Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele |
ORPHA:261102 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
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Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death |
OMIM:601612 |
Ventricular Septal Defect 3 |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Branchiogenic-Deafness Syndrome |
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Short stature, Branchial fistula, Branchial cyst |
OMIM:609166 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa... |
ORPHA:453499 |
Branchiootic Syndrome 3 |
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Branchial cyst |
OMIM:608389 |
Branchiogenic Deafness Syndrome |
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Short stature, Branchial fistula, Branchial cyst |
ORPHA:50815 |
Hypoplastic Left Heart Syndrome |
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Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Patent ductus arte... |
ORPHA:2248 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
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Severe postnatal growth retardation, Branchial cyst |
ORPHA:435938 |
Branchiootic Syndrome 1 |
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Branchial fistula |
OMIM:602588 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
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Tetralogy of Fallot, Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary v... |
ORPHA:2184 |
Autosomal Dominant Coarctation Of Aorta |
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Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:1455 |
Distal 22Q11.2 Microdeletion Syndrome |
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Branchial fistula, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect... |
ORPHA:261330 |
Holoprosencephaly |
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Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal pulmonary valv... |
ORPHA:2162 |
Thoracoabdominal Syndrome |
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Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Cystic hygroma, Anencephaly, ... |
OMIM:313850 |
Distal 22Q11.2 Microduplication Syndrome |
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Webbed neck, Branchial fistula, Ventricular septal defect, Low posterior hairline, Tricuspid valv... |
ORPHA:261337 |
Ciliary Dyskinesia, Primary, 52 |
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Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... |
ORPHA:352665 |
Branchiootorenal Syndrome 1 |
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Branchial fistula, Branchial cyst |
OMIM:113650 |
Bor Syndrome |
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Branchial cyst |
ORPHA:107 |
Branchiootic Syndrome |
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Branchial fistula |
ORPHA:52429 |
Oligomeganephronia |
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Secundum atrial septal defect, Branchial cyst |
ORPHA:2260 |
8Q24.3 Microdeletion Syndrome |
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Infancy onset short-trunk short stature, Branchial cyst, Abnormal heart morphology, Atrioventricu... |
ORPHA:508488 |
Aorta Coarctation |
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Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
Treacher-Collins Syndrome |
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Encephalocele, Branchial fistula, Patent ductus arteriosus |
ORPHA:861 |
Cardiac Diverticulum |
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Aortic valve stenosis, Tricuspid stenosis, Congenital defect of the pericardium, Umbilical hernia... |
ORPHA:1686 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Branchial anomaly |
ORPHA:466950 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Natal tooth, Branchial cyst, Intrauterine growth retardation, Patent foramen ovale, Atrial septal... |
OMIM:620186 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Heterotaxy, Visceral, 12, Autosomal |
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Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... |
OMIM:619702 |
Congenitally Corrected Transposition Of The Great Arteries |
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Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, Hydro... |
OMIM:164210 |
Branchiooculofacial Syndrome |
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Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Low posterior h... |
OMIM:113620 |
Witteveen-Kolk Syndrome |
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Short stature, Intrauterine growth retardation, Branchial fistula, Growth delay |
OMIM:613406 |