Mitral Valve Prolapse 2 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:610840 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... |
OMIM:614676 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... |
OMIM:314400 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Storm Syndrome |
|
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... |
OMIM:185069 |
Mitral Valve Prolapse 1 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:157700 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology |
ORPHA:2868 |
Optic Atrophy 8 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:616648 |
Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... |
ORPHA:228410 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral valve prolapse, Hypertension, Mitral regurgitation |
OMIM:173900 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Mitral valve prolapse, Atrial fibrillation |
OMIM:616166 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse, Azoospermia |
ORPHA:2183 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Mitral val... |
OMIM:212093 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Mitral valve prolapse, Aortic regurgitation, Mitral regurgitation |
OMIM:225320 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse |
OMIM:211960 |
Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse |
ORPHA:2233 |
Cardiospondylocarpofacial Syndrome |
|
Mitral valve prolapse, Mitral regurgitation |
ORPHA:3238 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse |
OMIM:225310 |
Mass Syndrome |
|
Mitral valve prolapse |
OMIM:604308 |
Pseudoxanthoma Elasticum |
|
Mitral stenosis, Angina pectoris, Intermittent claudication, Restrictive cardiomyopathy, Weak pul... |
OMIM:264800 |
Camurati-Engelmann Disease, Type 2 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:606631 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Atri... |
ORPHA:324410 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Mitral valve prolapse, Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:230839 |
Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Mitral regurgitation, Tetralogy of Fallot, Ventricular septal defect, Mitra... |
OMIM:612561 |
Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Aortic valve stenosis, Mitral valve prolapse, Gastrointestinal hemorrhage, Epis... |
OMIM:193400 |
Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Mitral valve prolapse, Dilated cardiomyopathy, Left ventricular systolic dysfunction |
OMIM:145350 |
Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia |
ORPHA:2248 |
Marfanoid Habitus With Situs Inversus |
|
Pulmonic stenosis, Mitral valve prolapse, Aortic regurgitation, Situs inversus totalis |
OMIM:609008 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Mitral valve prolapse, Patent foramen ovale, Mitral regurgitation |
OMIM:615539 |
Dental Anomalies And Short Stature |
|
Mitral valve prolapse |
OMIM:601216 |
Stickler Syndrome Type 1 |
|
Mitral valve prolapse |
ORPHA:90653 |
Central Core Disease |
|
Mitral valve prolapse |
ORPHA:597 |
Classic Multiminicore Myopathy |
|
Mitral valve prolapse, Right ventricular failure, Congestive heart failure, Right ventricular hyp... |
ORPHA:324604 |
Cardiomyopathy, Dilated, 2E |
|
Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
Fragile X Syndrome |
|
Mitral valve prolapse |
OMIM:300624 |
Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
Ebstein Anomaly |
|
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... |
OMIM:224700 |
Fragile X Syndrome |
|
Mitral valve prolapse |
ORPHA:908 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral valve prolapse, Gastrointestinal... |
OMIM:177850 |
Cap Myopathy |
|
Mitral valve prolapse, Sinus tachycardia, Reduced systolic function |
ORPHA:171881 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Dysplastic pulmonary valve, Mitral valve prolapse,... |
OMIM:612863 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
Geleophysic Dysplasia 2 |
|
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Mitral regurgitation, Mitral valve pr... |
OMIM:614185 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Mitral valve prolapse |
ORPHA:98 |
Frank-Ter Haar Syndrome |
|
Mitral valve prolapse |
ORPHA:137834 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Mitral valve prolapse, Quadricuspid aortic valve |
OMIM:606408 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology |
ORPHA:1277 |
Pseudoxanthoma Elasticum |
|
Angina pectoris, Telangiectasia of the skin, Restrictive cardiomyopathy, Sudden cardiac death, Re... |
ORPHA:758 |
Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... |
ORPHA:1880 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Bundle branch block, Atrio... |
ORPHA:500 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Mitral valve prolapse |
OMIM:247410 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:371428 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Mitral valve prolapse, Cardiomyopathy, Mitral regurgitation |
OMIM:258450 |
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Myxomatous mitral valve degeneration |
OMIM:130090 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Left ventricular hypertrophy, Mitral regurgitation... |
ORPHA:230851 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... |
ORPHA:860 |
Brittle Cornea Syndrome 1 |
|
Mitral valve prolapse |
OMIM:229200 |
Boudin-Mortier Syndrome |
|
Mitral valve prolapse |
OMIM:619543 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... |
ORPHA:95459 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Mitral valve prolapse, Myocardial infarction |
OMIM:236200 |
Noonan Syndrome 13 |
|
Mitral valve prolapse, Atrial septal defect, Mitral regurgitation |
OMIM:619087 |
Noonan Syndrome 10 |
|
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral re... |
OMIM:616564 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:3071 |
Dahlberg-Borer-Newcomer Syndrome |
|
Mitral valve prolapse |
ORPHA:1563 |
Cohen Syndrome |
|
Mitral valve prolapse |
OMIM:216550 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Mitral valve prolapse, Atrial septal defect |
OMIM:300986 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Mit... |
OMIM:121050 |
Spondyloocular Syndrome |
|
Mitral valve prolapse, Atrial septal defect |
OMIM:605822 |
Congenital Contractural Arachnodactyly |
|
Mitral valve prolapse |
ORPHA:115 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
Noonan Syndrome 14 |
|
Pulmonic stenosis, Mitral valve prolapse, Aortic regurgitation, Hypertrophic cardiomyopathy |
OMIM:619745 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology |
ORPHA:903 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Mitral valve prolapse |
ORPHA:2712 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mitral valve prolapse, Hypertension |
ORPHA:449291 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Abnormal... |
OMIM:616749 |
Noonan Syndrome 3 |
|
Tricuspid valve prolapse, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mit... |
OMIM:609942 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Mitral valve prolapse |
OMIM:130000 |
Stickler Syndrome, Type I |
|
Mitral valve prolapse |
OMIM:108300 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... |
ORPHA:99103 |
Fg Syndrome Type 1 |
|
Mitral valve prolapse, Pulmonary arterial hypertension, Atrial septal defect |
ORPHA:93932 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Mitral regurgitation, Hematochezia, Mitral valve prolapse, Telangiectasia, Epistaxis |
OMIM:175050 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mitral valve prolapse, Facial... |
OMIM:602782 |
Neonatal Marfan Syndrome |
|
Tricuspid valve prolapse, Abnormal cardiac ventricle morphology, Tricuspid regurgitation, Mitral ... |
ORPHA:284979 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Mitral valve prolapse, Hypertension |
OMIM:616914 |
Loeys-Dietz Syndrome 4 |
|
Mitral valve prolapse, Bicuspid aortic valve |
OMIM:614816 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Mitral valve prolapse |
OMIM:618874 |
Osteogenesis Imperfecta, Type I |
|
Mitral valve prolapse |
OMIM:166200 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Mitral valve prolapse |
OMIM:618000 |
8P11.2 Deletion Syndrome |
|
Mitral valve prolapse, Atrial septal defect, Azoospermia |
ORPHA:251066 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Mitral valve prolapse, Arterial rupture, Congestive heart failure |
ORPHA:1900 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... |
OMIM:245600 |
Brittle Cornea Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
Legius Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse, Paroxysmal atrial tachycardia |
ORPHA:137605 |
Autosomal Dominant Polycystic Kidney Disease |
|
Mitral valve prolapse, Hypertension |
ORPHA:730 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Mitral valve prolapse, Dilatation of the ventricular cavity, Aortic regurgitation, Abnormal heart... |
ORPHA:85438 |
Scimitar Syndrome |
|
Tricuspid atresia, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septa... |
ORPHA:185 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... |
ORPHA:555874 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Mitral valve prolapse |
OMIM:104350 |
Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Mitral regurgitation, Mitral valve prolapse, Aortic regurgitation, Hyperte... |
OMIM:611962 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Palpitations, Partial diaphragmatic... |
ORPHA:2847 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mitral valve prolapse, Dilated cardiomyopathy, Mitral regurgitation |
OMIM:607459 |
Shprintzen-Goldberg Syndrome |
|
Mitral valve prolapse, Abnormal aortic valve morphology, Mitral regurgitation |
ORPHA:2462 |
Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave |
ORPHA:444072 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Atrial septal defect, Tricuspid regurgitation, Mitral valve prolapse, Aortic regurgitation, Biven... |
OMIM:617402 |
Frontometaphyseal Dysplasia 1 |
|
Mitral valve prolapse, Cor pulmonale |
OMIM:305620 |
Frank-Ter Haar Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Secundum atrial septal defect, Ventricular s... |
OMIM:249420 |
Marfan Syndrome |
|
Tricuspid valve prolapse, Mitral annular calcification, Bicuspid aortic valve, Tricuspid regurgit... |
OMIM:154700 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Hypertension |
ORPHA:1192 |
Rheumatic Fever |
|
Abnormal mitral valve morphology, Endocarditis, Abnormal aortic valve morphology, Myocarditis, Ar... |
ORPHA:3099 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Mitral valve prolapse |
ORPHA:508533 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Mitral valve prolapse, Pericardial effusion |
ORPHA:536532 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Mitral valve prolapse |
OMIM:182212 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Mitral valve prolapse |
OMIM:259600 |
Melnick-Needles Syndrome |
|
Tricuspid valve prolapse, Mitral valve prolapse, Pulmonary arterial hypertension |
OMIM:309350 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Tricuspid regurgitation, Mitral reg... |
ORPHA:2556 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Mitral valve prolapse |
ORPHA:369950 |
Polymyositis |
|
Abnormal mitral valve morphology, Arrhythmia, Vasculitis, Myocardial infarction, Abnormal atriove... |
ORPHA:732 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Tricuspid valve prolapse, Atrial septal defect, Tricuspid regurgitation, Mitral regurgitation, Mi... |
OMIM:601776 |
Turnpenny-Fry Syndrome |
|
Tricuspid valve prolapse, Mitral valve prolapse, Aortic regurgitation, Atrial septal defect |
OMIM:618371 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Mitral valve prolapse |
ORPHA:536467 |
Marfan Syndrome |
|
Mitral valve prolapse, Mitral valve calcification, Congestive heart failure |
ORPHA:558 |
Loeys-Dietz Syndrome 1 |
|
Mitral valve prolapse, Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect |
OMIM:609192 |
Costello Syndrome |
|
Atrial septal defect, Pulmonic stenosis, Arrhythmia, Ventricular septal defect, Mitral valve prol... |
OMIM:218040 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Abnormal right ventricle morphology |
ORPHA:500095 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Atrial septal defect, Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Mitral ... |
ORPHA:363700 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Mitral valve calcification, Cardiomegaly |
OMIM:231005 |
Microphthalmia, Syndromic 2 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ve... |
OMIM:300166 |
Williams Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrial septal defect, Supravalvular ao... |
ORPHA:904 |
Classical Ehlers-Danlos Syndrome |
|
Tricuspid valve prolapse, Abnormal heart valve physiology, Orthostatic hypotension, Mitral regurg... |
ORPHA:287 |
Heterotaxy, Visceral, 1, X-Linked |
|
Double outlet right ventricle, Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Atr... |
OMIM:306955 |
Rubinstein-Taybi Syndrome 1 |
|
Atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Mitral valve prolapse, P... |
OMIM:180849 |
Atypical Werner Syndrome |
|
Telangiectasia of the skin, Aortic valve calcification, Aortic valve stenosis, Mitral valve prola... |
ORPHA:79474 |
3C Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... |
ORPHA:7 |
Osteogenesis Imperfecta |
|
Mitral valve prolapse, Aortic regurgitation, Abnormal endocardium morphology, Cerebral hemorrhage |
ORPHA:666 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis |
OMIM:617660 |
Leopard Syndrome 3 |
|
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Tetralogy of Fallot |
OMIM:613707 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Mitral regurgitation, Myxomatous ... |
OMIM:194050 |
Loeys-Dietz Syndrome 3 |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mit... |
OMIM:613795 |
Stickler Syndrome |
|
Mitral valve prolapse, Arrhythmia |
ORPHA:828 |
Loeys-Dietz Syndrome 2 |
|
Mitral valve prolapse, Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect |
OMIM:610168 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Hemothorax, Recurrent intrapulmonary hemorrhage, Mitral valve prolapse, Arterial rupture, Diffuse... |
OMIM:130050 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Subvalvular aortic stenosis |
OMIM:619461 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
Viss Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Right ventricular hypertrophy, Epidural hemo... |
OMIM:619472 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve calcification,... |
ORPHA:363618 |
X-Linked Mandibulofacial Dysostosis |
|
Pulmonic stenosis, Abnormal mitral valve morphology |
ORPHA:1131 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal mitral valve morphology |
ORPHA:1876 |
Noonan Syndrome 2 |
|
Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricu... |
OMIM:605275 |
Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Renovascular hypertension, Mitral valve prolapse, Internal hemorrhage... |
ORPHA:286 |
Alkaptonuria |
|
Aortic valve calcification, Mitral valve calcification, Myocardial infarction, Abnormal heart val... |
ORPHA:56 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Abnormal cardiac septum morphology, Aortic regurgitation, Mitral atresia |
ORPHA:140952 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Mitral valve calcification, Abnormal myocardium morphology, Abnormal ... |
ORPHA:77261 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Truncus ar... |
ORPHA:2008 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, Tetralogy of Fallot,... |
OMIM:618280 |
Geleophysic Dysplasia 1 |
|
Tricuspid stenosis, Mitral stenosis, Aortic valve stenosis, Congestive heart failure |
OMIM:231050 |
Mucolipidosis Type Ii |
|
Abnormal mitral valve morphology, Telangiectases of the cheeks, Abnormal atrioventricular valve p... |
ORPHA:576 |
Distal Monosomy 15Q |
|
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... |
ORPHA:1596 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect |
ORPHA:1292 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis |
ORPHA:96201 |
Coffin-Lowry Syndrome |
|
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... |
ORPHA:192 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Atr... |
OMIM:265380 |
Mucopolysaccharidosis, Type Vi |
|
Mitral stenosis, Tricuspid regurgitation, Mitral regurgitation, Pulmonary insufficiency, Sinus ta... |
OMIM:253200 |
Hutchinson-Gilford Progeria Syndrome |
|
Mitral stenosis, Abnormal mitral valve morphology, Aortic valve calcification, Angina pectoris, A... |
ORPHA:740 |
Alkaptonuria |
|
Aortic valve calcification, Mitral valve calcification |
OMIM:203500 |
X-Linked Intellectual Disability, Nascimento Type |
|
Mitral stenosis, Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, P... |
ORPHA:163956 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Mitral stenosis |
OMIM:617260 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Arrhythmia, Heart murmur, ... |
ORPHA:217085 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Mitral stenosis, Aortic valve stenosis, Tricuspid regurgitation, Tricuspid stenosis, Pulmonic ste... |
OMIM:143095 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Arrhythmia, Heart murmur, ... |
ORPHA:217093 |
Mucopolysaccharidosis Type 2 |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Arrhythmia, Abnormal heart... |
ORPHA:580 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Atrioventricular block, Abnormal aortic valve morphology, Reduc... |
ORPHA:581 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormal mitral valve morphology, Dysplastic tricuspid valve |
ORPHA:1724 |
Gaucher Disease |
|
Aortic valve calcification, Abnormal pericardium morphology, Mitral valve calcification, Abnormal... |
ORPHA:355 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormal mitral valve morphology |
ORPHA:1969 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Bacterial endocarditis, Aortic valve calcification, Mitral valve calcification, Spontaneous, recu... |
ORPHA:2072 |
Hajdu-Cheney Syndrome |
|
Mitral stenosis, Ventricular septal defect, Aortic valve stenosis |
ORPHA:955 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Tricuspid regurgitation, Left ventricular hypertrophy, Mitral regurgitation, Mitral valve calcifi... |
OMIM:619127 |
Pulmonary Alveolar Microlithiasis |
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Right ventricular failure, Mitral valve calcification, Increased pulmonary vascular resistance |
ORPHA:60025 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Double outlet right ventricle, Hypoplastic left heart, Muscular ventricular septal defect, Mitral... |
OMIM:619503 |
Okamoto Syndrome |
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Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Abnormal le... |
ORPHA:2729 |
Tetrasomy 9P |
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Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Raynaud phenomenon, Oligosp... |
ORPHA:3310 |
Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... |
OMIM:182250 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Oligospermia, Short sperm flagella |
OMIM:619102 |