Cayler Cardiofacial Syndrome |
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Patent ductus arteriosus, Tetralogy of Fallot, 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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Torticollis, Ventricular septal defect, Short stature, Patent ductus arteriosus, Pulmonic stenosi... |
OMIM:249670 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
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Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Verheij Syndrome |
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Branchial cyst, Short stature, Ventricular septal defect, Short neck, Growth delay, Intrauterine ... |
OMIM:615583 |
Megabladder, Congenital |
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Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Atrial Septal Defect 2 |
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Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
X-Linked Mandibulofacial Dysostosis |
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Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology |
ORPHA:1131 |
Neuronal Intestinal Pseudoobstruction |
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Natal tooth, Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:99811 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
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Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology |
OMIM:601612 |
Branchiogenic-Deafness Syndrome |
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Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Ventricular Septal Defect 3 |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Branchiootic Syndrome 3 |
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Branchial cyst |
OMIM:608389 |
Branchiogenic Deafness Syndrome |
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Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
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Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Branchiootic Syndrome 1 |
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Branchial fistula |
OMIM:602588 |
Hypoplastic Left Heart Syndrome |
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Mitral atresia, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect, Mitral st... |
ORPHA:2248 |
Autosomal Dominant Coarctation Of Aorta |
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Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Distal 22Q11.2 Microdeletion Syndrome |
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Branchial fistula, Short stature, Ventricular septal defect, Growth delay, Atrial septal defect, ... |
ORPHA:261330 |
Holoprosencephaly |
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Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... |
ORPHA:2162 |
Thoracoabdominal Syndrome |
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Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries, Ectopi... |
OMIM:313850 |
Distal 22Q11.2 Microduplication Syndrome |
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Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Low poster... |
ORPHA:261337 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:352665 |
Branchiootorenal Syndrome 1 |
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Branchial cyst, Branchial fistula |
OMIM:113650 |
Branchiootic Syndrome |
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Branchial fistula |
ORPHA:52429 |
Bor Syndrome |
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Branchial cyst |
ORPHA:107 |
Oligomeganephronia |
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Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
8Q24.3 Microdeletion Syndrome |
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Branchial cyst, Infancy onset short-trunk short stature, Short stature, Ventricular septal defect... |
ORPHA:508488 |
Treacher-Collins Syndrome |
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Encephalocele, Branchial fistula, Patent ductus arteriosus |
ORPHA:861 |
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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Branchial cyst, Natal tooth, Short stature, Atrial septal defect, Intrauterine growth retardation... |
OMIM:620186 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:610338 |
Heterotaxy, Visceral, 12, Autosomal |
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Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Patent ductus art... |
OMIM:619702 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran... |
OMIM:164210 |
Branchiooculofacial Syndrome |
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Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Intrauterine... |
OMIM:113620 |
Witteveen-Kolk Syndrome |
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Growth delay, Branchial fistula, Short stature, Intrauterine growth retardation |
OMIM:613406 |