Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
a disintegrin and metallopeptidase domain 19 (meltrin beta)
Synonyms:
Mltnb

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Adam19 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adam19 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... ORPHA:2041
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... OMIM:249670
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Pedal edema, Ho... ORPHA:99095
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Syncope, Heart murmur, Abnormal cardiovascular system phys... ORPHA:422
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Maternal diabetes, Patent ductus arteriosus, Pulmonary arter... ORPHA:1208
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Stroke, Tricuspid regurgitation, Left ventricular hypertrophy, Atr... OMIM:614022
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Arthrogryposis... OMIM:614262
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... ORPHA:228410
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Hypertension,... ORPHA:563
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary insufficiency, ... OMIM:619433
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect OMIM:618496
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dehydration, Dilated cardiomyopathy ORPHA:79159
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology ORPHA:2868
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Pulmonic stenosis, Abnormal heart valve morphology OMIM:126190
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... OMIM:609040
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation ORPHA:3449
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Anomalous pulmonary venous return, Atrial arrhythmia, Stroke, Systol... ORPHA:99105
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Patent ductus art... OMIM:618782
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Overriding aorta, Hydrops fetalis, Ventricular septal defect, Lymphedema, P... OMIM:601927
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi... OMIM:620067
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Patent ductus arteriosus, Hyper... OMIM:615382
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Situs inversus totalis, Ol... OMIM:615415
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... ORPHA:3093
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... OMIM:600996
Mcdonough Syndrome
Diastasis recti, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ventricular sept... OMIM:248950
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Tendon rupture, S... ORPHA:85451
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic ... OMIM:185500
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Atrial Standstill 2
Atrial arrhythmia, Stroke, Atrial standstill, Palpitations, Absent P wave, Vascular dilatation, A... OMIM:615745
Diaphragmatic Hernia 4, With Cardiovascular Defects
Diaphragmatic eventration, Aplasia of the left hemidiaphragm, Ventricular septal defect, Pulmonar... OMIM:620025
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Sarcosinemia
Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy ORPHA:3129
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Noonan Syndrome 11
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:618499
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Tricuspid regurgitation, Dysplastic pulmonary valve, Mitral valve prolapse,... OMIM:612863
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... OMIM:615616
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... ORPHA:99094
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Skeletal muscle atrophy, Atrial septal defect, Coarctation of aorta OMIM:614300
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Hydrops fe... OMIM:212093
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pulmonary arterial... ORPHA:2414
Craniofaciofrontodigital Syndrome
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... ORPHA:363705
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
8p23.1 deletion syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricular canal defect, Cryptorchid... DECIPHER:39
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Foot dorsiflexor weak... ORPHA:477817
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Limb hypertonia, Perimembranous ventricular septal ... OMIM:619170
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Dehydration, Aortic valve stenosis OMIM:143880
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... OMIM:253300
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Stroke, Systolic heart murmur, Ped... ORPHA:99103
Cardiomyopathy, Dilated, 2E
Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis OMIM:261560
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... OMIM:615355
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... ORPHA:99104
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... ORPHA:555874
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Storm Syndrome
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... OMIM:185069
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... ORPHA:324410
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... OMIM:619149
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... ORPHA:860
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:638
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy ORPHA:369847
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Mitral valve prolapse, Gastrointestinal hemorrhage, Gast... OMIM:193400
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Oligohydramnios, Congenital diaphragmatic hernia ORPHA:139466
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy OMIM:614676
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Lower limb muscle weakness, Dilatation of the ventricular cavity, Distal lower limb muscle weakne... ORPHA:363623
Catel-Manzke Syndrome
Coarctation of aorta, Camptodactyly, Ventricular septal defect, Dextrocardia, Cryptorchidism, Ove... OMIM:616145
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... ORPHA:210122
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Right ventricular dilatation, Tricus... OMIM:619705
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Diastasis re... OMIM:265380
Familial Bicuspid Aortic Valve
Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... ORPHA:402075
Mungan Syndrome
Pulmonic stenosis, Tricuspid regurgitation, Perimembranous ventricular septal defect OMIM:611376
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, ... OMIM:609029
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... ORPHA:284169
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Abnormal left ventricular function, Stroke, Posterior cerebral artery sten... OMIM:132900
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic regurgitation, Aortic ro... OMIM:609008
Craniosynostosis 1
Systolic heart murmur, Aortic valve stenosis OMIM:123100
Congenital Disorder Of Glycosylation, Type Ih
Neonatal death, Camptodactyly, Patent ductus arteriosus, Edema, Oligohydramnios, Perimembranous v... OMIM:608104
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Transposition of the great arteries, ... OMIM:617877
Klippel-Trénaunay Syndrome
Atrial septal defect, Peripheral arteriovenous fistula, Hydrops fetalis, Pulmonary embolism, Pate... ORPHA:90308
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomyopathy ORPHA:1909
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Tyshchenko Syndrome
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect OMIM:615102
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardi... OMIM:617022
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonic stenosis, Skeletal muscle atrophy, Aortic valve stenosis, Flexion contracture ORPHA:75496
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation OMIM:114065
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... OMIM:600001
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Situs inversus totali... OMIM:267010
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morphology, ... ORPHA:3405
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Coarctatio... ORPHA:3426
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta OMIM:616559
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... ORPHA:7
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Cryptorchidism, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Mend Syndrome
Aortic valve stenosis OMIM:300960
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... ORPHA:99147
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... OMIM:614954
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Enthesitis-Related Juvenile Idiopathic Arthritis
Thickened Achilles tendon, Mitral valve prolapse, Aortic regurgitation, Dilatation of the ventric... ORPHA:85438
Arterial Tortuosity Syndrome
Telangiectases of the cheeks, Aortic valve stenosis, Congenital diaphragmatic hernia, Flexion con... OMIM:208050
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... ORPHA:2306
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral re... OMIM:616564
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, C... OMIM:619343
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Hypertension, Pulmonary ar... OMIM:613355
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:615297
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallo... OMIM:610205
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Flexion contracture, Pulmonic stenosis, Ventricular septal... OMIM:608149
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Left-to-right shunt, Muscular ventricular septal defect, Camptodactyly, Pat... ORPHA:363444
Noonan Syndrome 3
Tricuspid valve prolapse, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Pol... OMIM:609942
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... OMIM:600987
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... OMIM:314400
Noonan Syndrome 5
Atrial septal defect, Pulmonic stenosis, Arrhythmia, Polyhydramnios, Hypertrophic cardiomyopathy OMIM:611553
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:2701
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Noonan Syndrome 6
Pulmonic stenosis, Polyhydramnios, Hypertrophic cardiomyopathy, Edema OMIM:613224
Noonan Syndrome 2
Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctat... OMIM:605275
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Ventricular Septal Defect 3
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Pulmonary artery stenosis OMIM:614432
Emanuel Syndrome
Multiple joint contractures, Aortic valve stenosis, Atrial septal defect, Congenital diaphragmati... ORPHA:96170
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Bicuspid aortic valve, Aortic valve stenosis OMIM:243310
Cardiofaciocutaneous Syndrome 4
Pulmonic stenosis, Polyhydramnios, Ventricular septal hypertrophy, Abnormal aortic valve morphology OMIM:615280
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Biventricular hypertrophy OMIM:250951
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Patent foramen ovale,... OMIM:616028
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Congenital diaphragmatic hernia, Flexion contracture, Emphysema ORPHA:171719
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small thenar eminence, Camptodactyly, Mitral valve prolapse, Small... OMIM:211960
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal systemic arterial morphology, Vascular dilatation,... ORPHA:90349
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Atrial septal defect ORPHA:1388
Microphthalmia, Syndromic 9
Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, Single ventricle, Diaph... OMIM:601186
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... ORPHA:597
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hy... OMIM:611812
Geleophysic Dysplasia 2
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Mitral regurgitation, Mitral valve pr... OMIM:614185
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right atrial enlargement, Abnormal left ventricular function, Abnormal T-wave, Rig... ORPHA:70591
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve calcification,... ORPHA:363618
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hy... OMIM:615524
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic valve stenosis, Aortic regurgit... OMIM:619698
Distal Monosomy 19P13.3
Tricuspid valve prolapse, Ventricular septal defect, Pulmonary valve atresia ORPHA:96129
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Pulmonary artery aneurysm, Ascending aortic dissecti... OMIM:609192
Monosomy 18Q
Absence of the pulmonary valve, Aortic valve stenosis, Secundum atrial septal defect, Dysplastic ... ORPHA:1600
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Heterotaxy, Visceral, 1, X-Linked
Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double outlet right ventr... OMIM:306955
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal defect OMIM:618804
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Atrial septal defect ORPHA:3469
Myopathy, Congenital, Nonprogressive
Atrial septal defect, Weakness of facial musculature, Polyhydramnios, Patent ductus arteriosus, P... OMIM:619967
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Costello Syndrome
Macroglossia, Pulmonic stenosis, Thickened Achilles tendon, Ventricular septal defect, Polyhydram... ORPHA:3071
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... OMIM:618280
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Edema, Te... ORPHA:101028
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect, Camptodactyly ORPHA:459061
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... OMIM:601808
Gaucher Disease, Type I
Aortic valve stenosis, Mitral regurgitation, Hypertension, Pulmonary arterial hypertension, Epist... OMIM:230800
Thymic Aplasia With Fetal Death
Stillbirth, Abnormality of the endocrine system, Pulmonary hypoplasia, Truncus arteriosus OMIM:274210
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Noonan Syndrome With Multiple Lentigines
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Bundle branch block, Atrio... ORPHA:500
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Anterior pituitary agenesis, Atrial septal defect, Congenital diaphr... ORPHA:2255
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
3P25.3 Microdeletion Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Kne... ORPHA:435638
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Joint contracture of the 4th finger, Pulmonic stenosis, Small thenar eminence, Joint contracture ... OMIM:618914
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Hydranencephaly
Antenatal intracerebral hemorrhage, Dilatation of the ventricular cavity, Abnormal cerebral arter... ORPHA:2177
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Dilated cardiomyopathy, Vascular dilat... OMIM:600884
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... ORPHA:615
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Coarctation of aorta, Te... ORPHA:96147
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Pa... ORPHA:2847
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Intellectual Developmental Disorder, Autosomal Dominant 45
Pulmonic stenosis, Heart murmur OMIM:617600
Eisenmenger Syndrome
Bacterial endocarditis, Stroke, Atrial septal defect, Atrioventricular canal defect, Tetralogy of... ORPHA:97214
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Abnormal heart morphology, Congenital diaphragmatic hernia, Emphysema OMIM:614100
Camurati-Engelmann Disease, Type 2
Hip contracture, Mitral valve prolapse, Hypogonadism, Knee flexion contracture, Delayed puberty, ... OMIM:606631
Noonan Syndrome 4
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Polyhydramnios, Hypertrophic ... OMIM:610733
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Tetralogy of Fallot, Ventricular ... OMIM:617478
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tortuosity, Mitral valve prolapse, Aort... OMIM:610168
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Pulmo... OMIM:100300
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Patent... OMIM:277600
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Abnormality of the pulmonary artery ORPHA:1131
Stiff Skin Syndrome
Bicuspid aortic valve, Elbow flexion contracture, Knee flexion contracture, Camptodactyly OMIM:184900
Classical-Like Ehlers-Danlos Syndrome Type 1
Stroke, Mitral valve prolapse, Adrenal hypoplasia, Skeletal muscle atrophy, Precocious atheroscle... ORPHA:230839
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Macroglossia, Flexion contracture, Patent ductus a... ORPHA:261290
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... ORPHA:1120
Periventricular Nodular Heterotopia 1
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Bicuspid aortic valve, Aortic valve stenosis, Macroglossia OMIM:614501
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventricular septal defect, Abnormality of t... ORPHA:1166
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Dysplastic pulmonary valve OMIM:300958
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac a... ORPHA:49827
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrioventricular canal defect OMIM:619123
Noonan Syndrome 7
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:613706
Sneddon Syndrome
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke OMIM:182410
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Cat Eye Syndrome
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Tetralogy of ... OMIM:115470
Diamond-Blackfan Anemia 6
Atrial septal defect, Mitral regurgitation, Tetralogy of Fallot, Ventricular septal defect, Mitra... OMIM:612561
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Chromosome 9P Deletion Syndrome
Atrial septal defect, Heart murmur, Ventricular septal defect, Patent ductus arteriosus, Perimemb... OMIM:158170
Mass Syndrome
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm OMIM:604308
46,Xx Sex Reversal 5
Increased serum testosterone level, Secundum atrial septal defect, Hypoplastic left heart, Aplasi... OMIM:618901
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... ORPHA:100078
Jejunal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... ORPHA:100077
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect OMIM:615508
Noonan Syndrome 14
Pulmonic stenosis, Polyhydramnios, Aortic regurgitation, Mitral valve prolapse, Scapular winging,... OMIM:619745
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:613458
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Atrial septal defect, Pulmonic stenosis, Camptodactyly of finger, ... OMIM:602782
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating ... ORPHA:251274
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:617044
Meacham Syndrome
Congenital alveolar dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Cardiac total ano... OMIM:608978
Alg9-Cdg
Torticollis, Hypoplasia of the musculature, Atrial septal defect, Tricuspid regurgitation, Hydrop... ORPHA:79328
Fetal Minoxidil Syndrome
Ventricular septal defect, Cryptorchidism ORPHA:1918
Geleophysic Dysplasia 1
Mitral stenosis, Aortic valve stenosis, Joint contracture of the hand, Tricuspid stenosis, Campto... OMIM:231050
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... ORPHA:324604
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial palsy, Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Abnormal cardiac ventricle morphology, Tricuspid regurgitation, Flexion... ORPHA:284979
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Abnormal left ventricular function, Pulmonic stenosis, Pulmonary a... OMIM:301056
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Flexion contracture, Tachycardia, Ventricular septal defect, Patent ductus ... OMIM:613870
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:2412
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Macroglossia, Atrioventricular canal defect,... OMIM:190685
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Epistaxis, Hematochezia ORPHA:96168
Anauxetic Dysplasia 1
Hip contracture, Aortic valve stenosis, Elbow flexion contracture, Macroglossia OMIM:607095
Mucopolysaccharidosis, Type Ivb
Intimal thickening in the coronary arteries, Aortic valve stenosis OMIM:253010
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Ventricular septal defect, Adrenal hyperplasia, Abnormal circulating ren... ORPHA:369929
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:619189
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Aortic valve stenosis, Neonatal death, Situs inversus totalis, Patent ductu... OMIM:208540
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Lower-limb joint contracture, Atrial septal defect, Pulmonary artery stenosis, Ventricular septal... ORPHA:459070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Flexion contracture, Pulmonic stenosis, Calf muscle hy... OMIM:253800
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Aortic valve stenosis, Chylothorax, Mitral regurgitation, Polyhydramnios, ... OMIM:613563
Cap Myopathy
Abnormal muscle fiber morphology, Increased variability in muscle fiber diameter, Lower limb amyo... ORPHA:171881
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Aortic valve stenosis, Coarctation of aorta, Interrupted aortic arch, P... ORPHA:2396
10Q22.3Q23.3 Microdeletion Syndrome
Tricuspid valve prolapse, Patent ductus arteriosus, Atrioventricular canal defect ORPHA:276413
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Oligohydramnios OMIM:617021
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Ascending aortic dissection, Vent... OMIM:608328
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology, Camptodactyly of finger ORPHA:1759
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Bilateral lung agenesis, Neonatal death, Coarctation of aorta... OMIM:601612
Grange Syndrome
Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis OMIM:616977
Carpenter Syndrome 1
Atrial septal defect, Joint contracture of the hand, Pulmonic stenosis, Tetralogy of Fallot, Camp... OMIM:201000
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618652
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Angioosteohypertrophic Syndrome
Tricuspid valve prolapse, Telangiectasia of the skin, Peripheral arteriovenous fistula, Pulmonary... ORPHA:2346
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... OMIM:612946
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse, Abnormal testis morphology, Hypogonadism ORPHA:2233
Aortic Aneurysm, Familial Thoracic 12
Bicuspid aortic valve, Ascending aortic dissection, Aortic regurgitation, Aortic root aneurysm, A... OMIM:619825
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Congenital diaphragmatic hernia, Junctional ectopic tachycardia, Arrhythmia... OMIM:309801
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Mitral regurgitation, Coarctation of aorta, Aortic regurgit... ORPHA:90348
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... ORPHA:401935
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, P... ORPHA:980
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:229
Sc phocomelia syndrome
Hip contracture, Aortic valve stenosis, Knee flexion contracture OMIM:269000
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... OMIM:601005
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect OMIM:263630
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect OMIM:618223
Duodenal Neuroendocrine Tumor
Melena, Hematemesis, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitatio... ORPHA:100076
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:618974
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... ORPHA:91387
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Mitral stenosis, Weakness of facial musculature, Increased variability in muscle fiber diameter, ... OMIM:619461
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Pulmonic stenosis, Skeletal muscle atrophy, Secundum atrial septal defect OMIM:615802
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pol... OMIM:616867
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Tetralogy of Fallot OMIM:613630
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Flexion contracture OMIM:618651
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Mitral valve prolapse, Abnormality of the hypothalamus-pituitary ... ORPHA:2183
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Popov-Chang syndrome
Pulmonic stenosis, Hypertension OMIM:618428
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Mitral Valve Prolapse 1
Mitral valve prolapse, Mitral regurgitation OMIM:157700
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, M... OMIM:618052
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Arrhythmia, Ventricular septal defect, Situs inversus totalis, Card... OMIM:249270
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:601450
Liver Disease, Severe Congenital
Abnormal left ventricular function, Pulmonary edema, Atrial septal defect, Systolic heart murmur,... OMIM:619991
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Edema, Congestive hea... OMIM:605676
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Shashi-Pena Syndrome
Atrial septal defect OMIM:617190
Contractural Arachnodactyly, Congenital
Hip contracture, Bicuspid aortic valve, Atrial septal defect, Mitral regurgitation, Wrist flexion... OMIM:121050
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Hypoplasia of the musculature, Tricuspid regurgitation, Mitral regurgit... ORPHA:1101
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Pedal edema, Patent ductus arteriosus, S... OMIM:126320
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Watson Syndrome
Pulmonic stenosis OMIM:193520
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Atrial septal defect, Tricuspid regurgitation, Pulmonic ste... OMIM:617506
Mosaic Trisomy 20
Ventricular septal defect, Abnormal mitral valve morphology, Dysplastic tricuspid valve ORPHA:1724
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Teebi-Shaltout Syndrome
Ventricular septal defect, Aortic valve stenosis, Camptodactyly OMIM:272950
Kabuki Syndrome 2
Pulmonic stenosis, Atrial septal defect, Coarctation of aorta, Atrioventricular canal defect OMIM:300867
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Aortic valve stenosis, Ventricular septal defect, Polyhydramnios, ... ORPHA:464311
Marfan Syndrome
Tricuspid valve prolapse, Mitral annular calcification, Bicuspid aortic valve, Tricuspid regurgit... OMIM:154700
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Coarctation of aorta, Tetralogy of Fallot, ... ORPHA:508498
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Takenouchi-Kosaki Syndrome
Abnormal cardiac septum morphology, Pulmonic stenosis, Camptodactyly, Lymphedema, Patent ductus a... OMIM:616737
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular ma... OMIM:130090
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Pulmonar... OMIM:608406
Optic Atrophy 8
Mitral valve prolapse, Mitral regurgitation OMIM:616648
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... OMIM:610759
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Koolen-De Vries Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent... OMIM:610443
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:1338
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Cerebrofacioarticular Syndrome
Pulmonic stenosis, Lymphedema, Camptodactyly, Abnormal heart morphology ORPHA:314679
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Knee flexion contracture, ... OMIM:603387
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve OMIM:608980
Cardiospondylocarpofacial Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, Mitral... OMIM:157800
Leigh Syndrome With Cardiomyopathy
Pulmonic stenosis, Mitral regurgitation, Dilated cardiomyopathy, Cardiac conduction abnormality, ... ORPHA:70474
Ogden Syndrome
Ventricular septal defect, Cardiomegaly, Torsade de pointes, Peripheral pulmonary artery stenosis... OMIM:300855
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Neonatal death, Truncus arteriosus OMIM:228940
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Mitral stenosis, Aortic valve stenosis, Tricuspid regurgitation, Flexion contracture, Tricuspid s... OMIM:143095
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Viss Syndrome
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Ventricular septal defe... OMIM:619472
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... OMIM:613834
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Tricuspid regurgitation, Macroglossia, Camptodactyly of toe, Camptodact... ORPHA:261337
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Polyhydramnios, Facial hypotonia, Decreased muscle mass, Congestive heart f... ORPHA:500533
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Arthrogryposis multiplex conge... OMIM:607598
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, Torticollis, Atrial septal defect, Polyhydramnios, Aortic regurgitation... OMIM:618371
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Pulmonic stenosis, Mitral regurgitation, Cor triatriatum, Patent d... OMIM:612541
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi... ORPHA:189439
Myhre Syndrome
Generalized muscle hypertrophy, Atrial septal defect, Aortic valve stenosis, Skeletal muscle hype... OMIM:139210
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Ehlers-Danlos Syndrome, Classic-Like
Mitral valve prolapse, Muscle fiber splitting, Quadricuspid aortic valve, Proximal amyotrophy OMIM:606408
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Joint contracture of the hand, Joint contracture of the 5th finger, Arthrog... ORPHA:352490
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse, Camptodactyly ORPHA:90354
Schuurs-Hoeijmakers Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Patent ductus arteriosus, Patent foram... OMIM:615009
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Atrial septal defect, Ventricular septal ... ORPHA:96121
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... OMIM:239850
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral regurgitation, Camptodactyly, Mitral valve prolapse, Patent foramen ovale, Facial hypotonia OMIM:615539
Cardiomyopathy, Familial Hypertrophic, 4
Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block, Vent... OMIM:115197
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta OMIM:615502
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonic stenosis, Left ventricular hypertrophy, Small thenar eminence, Camptodactyly, Patent duc... OMIM:619148
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Aortic tortuosity, Subarachnoid hemorrhage, Dilatation of the sinus o... OMIM:613795
Microphthalmia, Syndromic 2
Double outlet right ventricle, Contracture of the proximal interphalangeal joint of the 3rd toe, ... OMIM:300166
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Aortic valve stenosis, Ventricular septal defect, Aortic regurgitati... ORPHA:464306
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Retinal hemo... OMIM:177850
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Atrial septal defect, Aortic valve stenosis, Flexion contracture, Pr... ORPHA:536471
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale,... ORPHA:500159
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Dysplastic pulmonary valve OMIM:619103
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Polyhydramnios, Aortic regurg... OMIM:607721
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Camptodactyly OMIM:300963
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm ORPHA:261102
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Legius Syndrome
Pulmonic stenosis, Mitral valve prolapse, Paroxysmal atrial tachycardia ORPHA:137605
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Atrial septal defect, Tricuspid regurgitation, Right ventricular hypertrophy, Left ventricular hy... ORPHA:466791
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Congenital Rubella Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Abnormality of the pul... ORPHA:290
Seizures-Scoliosis-Macrocephaly Syndrome
Polyhydramnios, Atrial septal defect ORPHA:466926
Pseudoxanthoma Elasticum
Mitral stenosis, Angina pectoris, Intermittent claudication, Stroke, Restrictive cardiomyopathy, ... OMIM:264800
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Ventricular septal defect, Perimembranous ventricular septal defect, Macroglossia OMIM:301040
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Patent foramen ovale, Oligohydr... OMIM:618027
Progeroid Short Stature With Pigmented Nevi
Bicuspid aortic valve, Aortic valve stenosis OMIM:176690
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Arrhythmia, Membranous subvalvular aortic stenosis ORPHA:3191
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Atrioventricular block, Abnormal P wave, Primum atrial septal defe... ORPHA:1329
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... OMIM:616866
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... ORPHA:371428
Fragile X Syndrome
Ascending tubular aorta aneurysm, Mitral valve prolapse, Macroorchidism ORPHA:908
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Mitral valve prolapse, Hypertension, Mitral regurgitation OMIM:173900
Frontometaphyseal Dysplasia 2
Hip contracture, Bicuspid aortic valve, Pulmonic stenosis, Camptodactyly, Patent ductus arteriosu... OMIM:617137
Congenital Contractural Arachnodactyly
Flexion contracture, Camptodactyly of finger, Mitral valve prolapse, Arthrogryposis multiplex con... ORPHA:115
Aneurysm-Osteoarthritis Syndrome
Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Camptodactyly of finger, A... ORPHA:284984
Tbck-Related Intellectual Disability Syndrome
Diastasis recti, Macroglossia, Pulmonic stenosis, Ventricular septal defect, Oligohydramnios, Ske... ORPHA:488632
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
16P12.1P12.3 Triplication Syndrome
Abnormal tricuspid valve morphology, Tachycardia, Atrial septal defect, Abnormal heart morphology ORPHA:485405
Weiss-Kruszka Syndrome
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Williams Syndrome
Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery morphology, Sudden cardiac de... ORPHA:904
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect OMIM:618142
Prune Belly Syndrome
Atrial septal defect, Aplasia of the abdominal wall musculature, Tetralogy of Fallot, Ventricular... ORPHA:2970
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse, Aortic regurgitation, Mitral regurgitation OMIM:225320
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:329224
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Abnormal mitral valve morphology, Stroke, Myocardial infarction, Ventricular hyp... ORPHA:740
Cardiofaciocutaneous Syndrome
Atrial septal defect, Pulmonic stenosis, Lymphedema, Abnormal heart valve morphology, Hypertrophi... ORPHA:1340
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Mitral regurgitation, Abdominal aortic aneurysm, Aortic arch aneurysm, Aor... OMIM:617168
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Transaldolase Deficiency
Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:606003
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect ORPHA:261295
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618870
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Dilated cardiomyopathy, Aortic regurgitation, Renovascular hypertension ORPHA:401923
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Camptodactyly, Ventricular septal defect, Aortic root... OMIM:301039
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Pulmon... ORPHA:75249
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus OMIM:617751
Developmental And Epileptic Encephalopathy 90
Limb hypertonia, Atrial septal defect OMIM:301058
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Decreased ci... OMIM:219080
Apert Syndrome
Ventricular septal defect, Overriding aorta OMIM:101200
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Megalencephaly
Atrial septal defect ORPHA:2477
Charge Syndrome
Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Pulmonic sten... OMIM:214800
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Muscle fiber atrophy, Weakness of facial musculature, EMG: myopathic abnor... OMIM:258450
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortica... ORPHA:404
Joubert Syndrome 18
Ventricular septal defect, Camptodactyly OMIM:614815
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Mend Syndrome
Limb hypertonia, Aortic valve stenosis, Abnormal heart morphology ORPHA:401973
Melnick-Needles Syndrome
Tricuspid valve prolapse, Mitral valve prolapse, Pulmonary arterial hypertension, Stillbirth OMIM:309350
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Diastasis recti, Atrial septal defect, Tricuspid regurgitation, Mitral ... OMIM:601776
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortica... ORPHA:403
17Q12 Microduplication Syndrome
Polyhydramnios, Atrial septal defect ORPHA:261272
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Coarctatio... ORPHA:353281
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Polyhydramnios, Atrial septal defect OMIM:611087
Fragile X Syndrome
Mitral valve prolapse, Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Transketolase Deficiency
Atrial septal defect, Abnormal coronary artery course, Ventricular septal defect, Patent ductus a... ORPHA:488618
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Right ventricular hypertrophy, Dehydration, Ventricular septal defect, Pate... OMIM:208085
Okamoto Syndrome
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Abnormal le... ORPHA:2729
Singleton-Merten Syndrome 1
Aortic valve calcification, Muscle fiber atrophy, Aortic valve stenosis, Tendon rupture, Aortic a... OMIM:182250
Leopard Syndrome 1
Bundle branch block, Pulmonic stenosis, Third degree atrioventricular block, Subvalvular aortic s... OMIM:151100
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Trichohepatoenteric Syndrome 1
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Aortic regurgi... OMIM:222470
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, Patent forame... OMIM:615474
Cardiofaciocutaneous Syndrome 1
Pulmonic stenosis, Polyhydramnios, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:115150
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Camptodactyly OMIM:618529
Dohle Bodies And Leukemia