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, Dupuytren contracture, Ventricular septal defect OMIM:122850
Coronary Arterial Fistula
Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat... ORPHA:2041
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... OMIM:614980
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... OMIM:249670
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... OMIM:253700
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Congenital Gerbode Defect
Pedal edema, Systolic heart murmur, Palpitations, Peripheral edema, Elevated right atrial pressur... ORPHA:99095
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Patent ductus arteriosus, Anomalous origin of left pulmonary artery from ascending aorta, Arteria... ORPHA:99050
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Partial Atrioventricular Septal Defect
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... ORPHA:1330
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Patent ductus arteriosus, Maternal diabetes, Abnormal tricuspid valve morphology, Pulmonary arter... ORPHA:1208
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Pedal edema, Heart murmur, Elevated jugular venous pressure, Syn... ORPHA:422
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... OMIM:614022
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Aortic Valve Disease 3
Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Polyvalvular Heart Disease Syndrome
Mitral valve prolapse, Abnormal heart valve morphology, Arrhythmia, Aortic valve stenosis, Pulmon... ORPHA:228410
Peripartum Cardiomyopathy
Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Peripheral edema, Elevated jugul... ORPHA:563
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... ORPHA:1686
Aorta Coarctation
Pulmonary arterial hypertension, Aortic valve atresia, Patent ductus arteriosus, Perimembranous v... ORPHA:1457
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy, Dehydration ORPHA:79159
Aortic Valve Disease 2
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... OMIM:614823
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... OMIM:616201
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
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
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Atrial septal defec... OMIM:614262
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... OMIM:609040
Atrial Septal Defect, Sinus Venosus Type
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Palpitations, ... ORPHA:99105
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... OMIM:618782
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ... OMIM:601927
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Aortic Arch Interruption
Patent ductus arteriosus, Double outlet right ventricle, Aortic valve atresia, Abnormal ascending... ORPHA:2299
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Hydrops fetalis, Pulmonary insufficiency, Ascites, Pulmonic stenosis,... OMIM:619433
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... ORPHA:1209
Cardiac Valvular Dysplasia 1
Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aortic arch wi... OMIM:212093
Nephronophthisis 16
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve steno... OMIM:615382
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertrophic car... OMIM:620135
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis ORPHA:2871
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i... OMIM:620067
Congenital Aortic Valve Stenosis
Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... ORPHA:3093
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormality of the pulmonary artery,... ORPHA:1354
Arrhythmogenic right ventricular dysplasia, familial, 2
Effort-induced polymorphic ventricular tachycardia, Dilatation of the ventricular cavity, Right v... OMIM:600996
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Left ventricular outflow tract obstruction, Right aortic arch, Hyp... OMIM:613854
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... ORPHA:85451
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Imperforate tricuspid valve, Patent ductus arteriosus, Right bundle branch ... ORPHA:1880
Atrial Standstill 2
Dilatation of the ventricular cavity, Vascular dilatation, Atrial standstill, Stroke, Atrial card... OMIM:615745
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Pulmonary artery ... OMIM:185500
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, Aortopulmonary window, Ventricular septal defect, Diaphragmatic eventration... OMIM:620025
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... ORPHA:216694
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ... OMIM:615616
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:618719
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Supravalvular aorti... ORPHA:1461
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect OMIM:618499
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Patent foramen ovale, Patent ductus arteriosus, Right ventric... ORPHA:99094
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Recurrent lower respiratory tract infections, Limb hypertonia, Perimembranous ventr... OMIM:619170
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... ORPHA:3304
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... OMIM:220210
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Persistent fetal circulation, Mitral valve prolapse, Atrial septal defe... OMIM:612863
Craniofaciofrontodigital Syndrome
Polyhydramnios, Abnormal cerebral vascular morphology, Pericardial effusion, Persistent fetal cir... ORPHA:363705
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... ORPHA:2414
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Peripheral edema, Abnormal P wa... ORPHA:99106
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Atrial Septal Defect, Ostium Secundum Type
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular functi... ORPHA:99103
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy OMIM:619492
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular dilatation, Unroofed co... ORPHA:99104
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... OMIM:253300
Noonan Syndrome 8
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Left ventricular hypertrophy... OMIM:615355
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Oligohydramnios, Hypertrophic cardiomyopathy, Situs inversus totalis, Stillbi... OMIM:615415
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... OMIM:618780
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... ORPHA:555874
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra... ORPHA:324410
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... OMIM:224700
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... ORPHA:860
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... OMIM:179613
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Myopathy, Right ventricular dilatation ORPHA:369847
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy, Right ventric... ORPHA:369840
Lessel-Kreienkamp Syndrome
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Pulm... OMIM:619149
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615279
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Dilatation of the ventricular cavity, Lower limb muscle weakness, Proximal muscle weakness in upp... ORPHA:363623
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:614676
Von Willebrand Disease, Type 1
Mitral valve prolapse, Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, A... OMIM:193400
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Atrioventricular canal defect, Pulmonary valve atresia, Patent d... ORPHA:210122
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
Serkal Syndrome
Pulmonic stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Oligohydramnios ORPHA:139466
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Heart murmur, Bicuspid aortic valve, Abnormal left ventricular outflow trac... ORPHA:402075
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Right ventricular dilatation, Tricus... OMIM:619705
Truncus Arteriosus
Truncus arteriosus, Tachycardia, Pulmonary artery stenosis, Ventricular septal defect, Interrupte... ORPHA:3384
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Atrioventricular canal defect, Nonimmune hydrops fetalis, Pulmonary artery dilata... OMIM:265380
Temple-Baraitser Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:611816
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Aortopulmonary collateral arter... OMIM:208530
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Mitral valve prolapse, Aortic regurgitation, Situs inversus totalis, Persis... OMIM:609008
Mungan Syndrome
Tricuspid regurgitation, Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:611376
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur OMIM:123100
Cardiomyopathy, Dilated, 1Y
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... OMIM:611878
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... ORPHA:284169
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect OMIM:618205
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Perimembranous ventricular septal defect, Camptodactyly, Oligohydramnio... OMIM:608104
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Congestive heart failure, Atrial s... ORPHA:90308
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve stenosis, Aortic valve calcification OMIM:114065
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Flexion contracture, Skeletal muscle atrophy, Pulmonic stenosis ORPHA:75496
Indomethacin Embryofetopathy
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Cardiomyopathy ORPHA:1909
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... OMIM:619702
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Paroxysmal supraventricular tachycardia, Arrhythmia, Tr... OMIM:617877
Tyshchenko Syndrome
Polyhydramnios, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615102
Emanuel Syndrome
Patent ductus arteriosus, Ventricular septal defect, Truncus arteriosus, Torticollis, Atrial sept... OMIM:609029
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Ventricular septal defect, Abnormal ... ORPHA:3405
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Patent foramen ovale, Absent gallbladder, Pancreatic hypoplasia, Truncu... OMIM:600001
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Coarc... ORPHA:3426
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta OMIM:616559
Meckel Syndrome, Type 7
Patent ductus arteriosus, Atrial septal defect, Oligohydramnios, Situs inversus totalis, Aortic v... OMIM:267010
3C Syndrome
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Atria... ORPHA:7
Acquired Von Willebrand Syndrome
Hypotension, Intracranial hemorrhage, Epistaxis, Aortic regurgitation, Melena, Mitral regurgitati... ORPHA:99147
Singleton-Merten Syndrome 2
Aortic valve stenosis, Aortic valve calcification, Arrhythmia OMIM:616298
Enthesitis-Related Juvenile Idiopathic Arthritis
Dilatation of the ventricular cavity, Thickened Achilles tendon, Mitral valve prolapse, Aortic re... ORPHA:85438
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... OMIM:614954
Meacham Syndrome
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... ORPHA:3097
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Hypoplasia of the thymus, Ventricular septal defe... OMIM:617022
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspid aortic valve, Hypertension, A... OMIM:613355
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:615297
Noonan Syndrome 10
Patent ductus arteriosus, Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left... OMIM:616564
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Alagille Syndrome 2
Hypertension, Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pu... OMIM:610205
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... OMIM:616749
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... OMIM:619343
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Coarctation of aorta, Hy... OMIM:618164
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defec... OMIM:600987
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... ORPHA:2306
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Polyhydramnios, Patent ductus arteriosus, Flexion contracture, D... OMIM:608149
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Aortic valve stenosis, Hypoplastic left heart, Atrial septal defect OMIM:617660
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Scimitar Syndrome
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Hypoplasia of the diaphragm, Abnormal ven... ORPHA:185
Noonan Syndrome 3
Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Ventricular septal defect, Mitral... OMIM:609942
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... OMIM:314400
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Perimembranous ventricular septal defect, Left-to-right shunt, Camptoda... ORPHA:363444
Developmental Delay, Language Impairment, And Ocular Abnormalities
Contracture of the proximal interphalangeal joint of the 5th finger, Facial telangiectasia, Pulmo... OMIM:620141
Noonan Syndrome 5
Polyhydramnios, Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Biventricular hypertrophy OMIM:250951
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Geleophysic Dysplasia 2
Pulmonary arterial hypertension, Mitral stenosis, Mitral valve prolapse, Mitral regurgitation, Tr... OMIM:614185
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Pulmonary artery atresia, Secundum atrial... OMIM:108900
Central Core Disease
Multiple joint contractures, Mitral valve prolapse, Central core regions in muscle fibers, Type 1... ORPHA:597
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Bilateral lung agenesis, Adrenal gland agenesis, Pulmonary hypoplasia,... OMIM:611812
Left Ventricular Noncompaction 1
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Noonan Syndrome 6
Polyhydramnios, Pulmonic stenosis, Edema, Hypertrophic cardiomyopathy OMIM:613224
Emanuel Syndrome
Patent ductus arteriosus, Ventricular septal defect, Truncus arteriosus, Multiple joint contractu... ORPHA:96170
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:614432
Cardiofaciocutaneous Syndrome 4
Polyhydramnios, Abnormal aortic valve morphology, Pulmonic stenosis, Ventricular septal hypertrophy OMIM:615280
Nemaline Myopathy 9
Polyhydramnios, Nemaline bodies, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:615731
Noonan Syndrome 2
Patent ductus arteriosus, Polyhydramnios, Atrioventricular canal defect, Abnormal coronary artery... OMIM:605275
Aorto-Ventricular Tunnel
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Heart murmur, Congesti... ORPHA:3400
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Abnormal heart valve morphology, Emphysema ORPHA:171719
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Patent foramen ovale, Right ventricular hypertrophy, Right atria... OMIM:616028
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Mitral valve prolapse, Camptodactyly, Small hypothenar eminence, S... OMIM:211960
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Pulmonary hypoplasia, Congenital diaphragmati... OMIM:615524
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... OMIM:618845
Monosomy 18Q
Patent ductus arteriosus, Absence of the pulmonary valve, Left-to-right shunt, Secundum atrial se... ORPHA:1600
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Polyhydramnios, Atrioventricular canal defect, Right atrial isomeris... OMIM:306955
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Loeys-Dietz Syndrome 1
Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatation of the duct... OMIM:609192
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Diaphragmatic eventratio... OMIM:601186
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Ventricular hypertrophy, Aortic atherosclerotic lesion, Intracranial hemorr... ORPHA:363618
Gaucher Disease, Type I
Pulmonary arterial hypertension, Hypertension, Epistaxis, Mitral regurgitation, Aortic valve sten... OMIM:230800
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Distal Monosomy 19P13.3
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Catel-Manzke Syndrome
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect ORPHA:1388
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Congenital Myopathy 11
Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Atrial septal defect, Weakness of... OMIM:619967
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Camptodactyly, Perimembranous ventricular septal defect OMIM:618804
Mucopolysaccharidosis, Type X
Aortic regurgitation, Aortic valve stenosis, Thickened aortic valve cusp, Left ventricular hypert... OMIM:619698
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Arterial Tortuosity Syndrome
Aortic tortuosity, Ventricular hypertrophy, Aortic root aneurysm, Flexion contracture, Ischemic s... OMIM:208050
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Camptodactyly, Atrial septal defect ORPHA:459061
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Maternal diabetes, Atrial septal defec... ORPHA:2248
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Costello Syndrome
Polyhydramnios, Thickened Achilles tendon, Ventricular septal defect, Mitral valve prolapse, Macr... ORPHA:3071
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Ventr... OMIM:601808
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Patent foramen ovale, Pancreatic hypoplasia, Neonatal insulin-dependent... ORPHA:2255
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Congenital diaphragmatic hernia, Abnormal cardiac septum morphology ORPHA:99811
Noonan Syndrome With Multiple Lentigines
Atrioventricular canal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dil... ORPHA:500
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Transaldolase Deficiency
Hydrops fetalis, Telangiectasia, Atrial septal defect, Coarctation of aorta, Edema, Biventricular... ORPHA:101028
Familial Atrial Myxoma
Pedal edema, Bacterial endocarditis, Vascular dilatation, Pulmonic valve myxoma, Heart murmur, Co... ORPHA:615
Isolated Right Ventricular Hypoplasia
Pedal edema, Patent foramen ovale, Right bundle branch block, Bidirectional shunt, Systolic heart... ORPHA:439
Xk Aprosencephaly Syndrome
Polyhydramnios, Ventricular septal defect, Atrial septal defect ORPHA:3469
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Vascular dilatation, Ventricular arrhythmia, Congestive heart ... OMIM:600884
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Joint contracture of the 5th finger, Joint contracture of the 4th finger, P... OMIM:618914
Intellectual Developmental Disorder, Autosomal Dominant 45
Pulmonic stenosis, Heart murmur OMIM:617600
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:615996
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Abnormal cardiac septum morphology, Macroglossia, Coarctation of aorta, Aorti... ORPHA:96147
Immunodeficiency 110 With Lymphoproliferation
Atrial septal defect OMIM:614868
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partia... ORPHA:2847
Atrial Septal Defect 9
Pulmonary arterial hypertension, Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Eisenmenger Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Aortopulmonary w... ORPHA:97214
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... ORPHA:2177
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pulmonic stenosis, Atrial septal defect OMIM:618282
Autosomal Recessive Cutis Laxa Type 1
Dilatation of the ventricular cavity, Abnormal cardiac ventricular function, Vascular dilatation,... ORPHA:90349
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Knee flexion contracture, Ventricular septal defect, Atrial septal defe... ORPHA:435638
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Abnormal heart morphology, Emphysema OMIM:614100
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery, Pulmonic stenosis, Abnormal mitral valve morphology ORPHA:1131
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Weill-Marchesani Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis,... OMIM:277600
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Ventricular septal defect, Truncus arteriosus, Interrupted aortic arch, At... OMIM:617478
Loeys-Dietz Syndrome 2
Ascending tubular aorta aneurysm, Aortic arch aneurysm, Camptodactyly, Ascending aortic dissectio... OMIM:610168
Noonan Syndrome 4
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Pul... OMIM:610733
Camurati-Engelmann Disease, Type 2
Knee flexion contracture, Hip contracture, Hypogonadism, Mitral valve prolapse, Delayed puberty, ... OMIM:606631
Trisomy 17P
Patent ductus arteriosus, Flexion contracture, Macroglossia, Hypoplastic left heart, Skeletal mus... ORPHA:261290
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve, Stroke, Cerebral hemorrhage OMIM:300049
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Stiff Skin Syndrome
Knee flexion contracture, Bicuspid aortic valve, Elbow flexion contracture, Camptodactyly OMIM:184900
Adams-Oliver Syndrome 1
Pulmonary arterial hypertension, Ventricular septal defect, Bicuspid aortic valve, Hypertension, ... OMIM:100300
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Abnormality of the pulmonary artery, Conge... ORPHA:1166
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Mitral valve prolapse, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse, Skeletal muscle atrophy, Precocious atherosclerosis, Stroke, Adrenal hypop... ORPHA:230839
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Dysplastic pulmonary valve OMIM:300958
Sneddon Syndrome
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Stroke, Facial palsy OMIM:182410
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Bicuspid aortic valve, Abnormal aortic v... ORPHA:1120
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis OMIM:212780
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Ventricular septal defect OMIM:615508
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Intracranial... ORPHA:251274
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect OMIM:613706
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect OMIM:619123
Geleophysic Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Joint contracture of the hand, Mitral stenosi... OMIM:231050
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm, Ascending aortic dissection OMIM:604308
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... OMIM:612561
46,Xx Sex Reversal 5
Increased serum testosterone level, Ventricular septal defect, Secundum atrial septal defect, Hyp... OMIM:618901
Chromosome 9P Deletion Syndrome
Patent ductus arteriosus, Ventricular septal defect, Heart murmur, Perimembranous ventricular sep... OMIM:158170
Cat Eye Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... OMIM:115470
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... ORPHA:49827
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect OMIM:300887
Ileal Neuroendocrine Tumor
Hypotension, Arterial occlusion, Cardiogenic shock, Edema, Arrhythmia, Right ventricular failure,... ORPHA:100078
Jejunal Neuroendocrine Tumor
Hypotension, Arterial occlusion, Cardiogenic shock, Edema, Arrhythmia, Right ventricular failure,... ORPHA:100077
Classic Multiminicore Myopathy
Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Mitral valve prolapse,... ORPHA:324604
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:617044
Meacham Syndrome
Pulmonary hypoplasia, Aplasia of the left hemidiaphragm, Ventricular septal defect, Congenital al... OMIM:608978
Congenital Tricuspid Stenosis
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Congestive he... ORPHA:95459
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Alg9-Cdg
Hydrops fetalis, Ventricular septal defect, Pericardial effusion, Abnormal left ventricular outfl... ORPHA:79328
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect, Cryptorchidism OMIM:616816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Calf muscle hypertrophy, Congenital muscular dystrophy, Dilated cardiomyopat... OMIM:253800
Histiocytosis-Lymphadenopathy Plus Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Camptodactyly of finger, Facial telang... OMIM:602782
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial palsy, Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus, Abnormal tricuspid valve morphology, Abnormal cardiac septum morphology ORPHA:2412
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Hyperaldosteronism, Ventricular septal defect, Intracranial hemorrhage, ... ORPHA:369929
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Polyhydramnios, Double outlet right ventricle, Ventricular septal defect, Arthrogryposis multiple... OMIM:301056
Neonatal Marfan Syndrome
Aortic root aneurysm, Ascending tubular aorta aneurysm, Flexion contracture, Heart murmur, Mitral... ORPHA:284979
Li-Campeau Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:619189
Renal-Hepatic-Pancreatic Dysplasia 1
Patent ductus arteriosus, Atrial septal defect, Oligohydramnios, Situs inversus totalis, Aortic v... OMIM:208540
Anauxetic Dysplasia 1
Aortic valve stenosis, Elbow flexion contracture, Hip contracture, Macroglossia OMIM:607095
Cap Myopathy
Aortic root aneurysm, Increased variability in muscle fiber diameter, Generalized amyotrophy, Low... ORPHA:171881
Noonan Syndrome 14
Polyhydramnios, Mitral valve prolapse, Aortic regurgitation, Hypertrophic cardiomyopathy, Scapula... OMIM:619745
Down Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Double outlet right ventricle, Patent fo... OMIM:190685
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Dextrocardia, Abnormal tricuspid valve morphology ORPHA:1759
Monosomy 13Q34
Epistaxis, Common atrium, Hematochezia, Pulmonic stenosis ORPHA:96168
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Congenital diaphrag... OMIM:309801
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:618330
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Oligohydramnios, Arrhythmia OMIM:617021
Weill-Marchesani Syndrome 2
Patent ductus arteriosus, Ventricular septal defect, Elbow flexion contracture, Congestive heart ... OMIM:608328
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation, Atrial septal defect OMIM:613087
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... OMIM:613870
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Polyhydramnios, Lower-limb joint contracture, Dilatation of the ventricular cavity, Ventricular s... ORPHA:459070
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted aortic arch, Coarctation... ORPHA:2396
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Ascending tubular aorta aneurysm, Bicuspid aortic valve, Ascending aortic d... OMIM:619825
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... ORPHA:79094
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Bilateral lung agenesis, Abnormal cardiac septum morphology, Coarctatio... OMIM:601612
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Carpenter Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Joint contracture of the hand, Camptodactyly... OMIM:201000
10Q22.3Q23.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve, Macroglossia OMIM:614501
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Aortic aneurysm, Congestive heart failure, Coarctation of a... ORPHA:90348
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse, Hypogonadism, Abnormal testis morphology ORPHA:2233
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Familial Aortic Dissection
Aortic root aneurysm, Patent ductus arteriosus, Coronary artery atherosclerosis, Descending aorti... ORPHA:229
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis OMIM:616977
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Absence Of The Pulmonary Artery
Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Abnor... ORPHA:980
Angioosteohypertrophic Syndrome
Pulmonary embolism, Lymphedema, Congestive heart failure, Venous insufficiency, Peripheral arteri... ORPHA:2346
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618652
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, P... ORPHA:401935
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresi... OMIM:612946
Fetal Encasement Syndrome
Bilateral trilobed lung, Congenital diaphragmatic hernia, Tetralogy of Fallot OMIM:613630
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Mitral regurgitation, Intimal thickening in the coronary arteries OMIM:253010
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis OMIM:615802
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Subvalvular aortic stenosis, Increased variability in muscle fiber diameter, Knee flexion contrac... OMIM:619461
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... OMIM:613751
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... OMIM:601005
Duodenal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Edema, Arrhythmia, Right ventricular failure, Palpitations, Tricu... ORPHA:100076
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... ORPHA:91387
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Stillbirth, Ventricular septal defect, Atrial septal defect OMIM:263630
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Flexion contracture, Increased va... OMIM:616867
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogona... ORPHA:2183
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:618974
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Pulmonic stenosis, Camptodactyly, Aortic dissection, Varicose veins OMIM:618343
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular septal defect OMIM:618651
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Edema, Ventricular tachycardia, Cardiomyocyte h... OMIM:605676
Mitral Valve Prolapse 1
Mitral valve prolapse, Mitral regurgitation OMIM:157700
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Skeletal muscle atrophy, Congestive heart failure, Perimembranous ... OMIM:608779
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Polyhydramnios, Patent foramen ovale, Right bundle branch block, Patent duc... OMIM:617506
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Patent foramen ovale, Systolic heart murmur, Dilatation of the ventr... OMIM:619991
Watson Syndrome
Pulmonic stenosis OMIM:193520
Teebi-Shaltout Syndrome
Aortic valve stenosis, Camptodactyly, Ventricular septal defect OMIM:272950
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Patent ductus arteriosus, Wrist flexion contracture, Knee flexion contractu... OMIM:121050
Holt-Oram Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ... ORPHA:392
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Situs inversus totalis, Arrhythmia, Stroke, Card... OMIM:249270
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Hypoplasia of the musculature, Mitral regurgitation, Tricuspid valve pro... ORPHA:1101
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:1338
Mosaic Trisomy 20
Dysplastic tricuspid valve, Ventricular septal defect, Abnormal mitral valve morphology ORPHA:1724
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Lymphedema, Bicuspid aortic valve, Mitral regurgitation, Chylothorax, Aortic valv... OMIM:613563
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Peripheral arterial stenosis, V... OMIM:126320
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Polyhydramnios, Atrial septal defect, Oligohydramnios OMIM:615476
Kabuki Syndrome 2
Atrioventricular canal defect, Pulmonic stenosis, Atrial septal defect, Coarctation of aorta OMIM:300867
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Koolen-De Vries Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve,... OMIM:610443
Familial Cutaneous Collagenoma
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy ORPHA:53296
Marfan Syndrome
Aortic root aneurysm, Ascending tubular aorta aneurysm, Tricuspid regurgitation, Flexion contract... OMIM:154700
Optic Atrophy 8
Mitral valve prolapse, Mitral regurgitation OMIM:616648
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Pulmonary arterial hypertension, Ventricular hypertrophy, Camptodactyly of finger, Flexion contra... OMIM:143095
Coffin-Siris Syndrome 4
Patent ductus arteriosus, Mitral atresia, Ventricular septal defect, Macroglossia, Atrial septal ... OMIM:614609
Cardiospondylocarpofacial Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Dysplastic tricuspid valve... OMIM:157800
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Patent ductus arteriosus, Polyhydramnios, Ventricular septal defect, Oligohydramnios, Aortic regu... ORPHA:464311
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:610759
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Lymphedema, Camptodactyly, Pulmonic... OMIM:616737
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect, Ri... OMIM:231060
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... ORPHA:508498
Cerebrofacioarticular Syndrome
Pulmonic stenosis, Camptodactyly, Abnormal heart morphology, Lymphedema ORPHA:314679
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve OMIM:608980
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Patent foramen ovale, Bradycardia, Sick sinus syndrome OMIM:617182
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... ORPHA:1913
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... ORPHA:70474
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... ORPHA:261183
Ogden Syndrome
Torsade de pointes, Secundum atrial septal defect, Premature atrial contractions, Pulmonary arter... OMIM:300855
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, ... ORPHA:555877
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Viss Syndrome
Aortic tortuosity, Polyhydramnios, Ascending tubular aorta aneurysm, Carotid artery dilatation, C... OMIM:619472
Brittle Cornea Syndrome
Mitral valve prolapse, Camptodactyly, Pulmonic stenosis ORPHA:90354
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Myhre Syndrome
Patent ductus arteriosus, Ventricular septal defect, Pericardial effusion, Camptodactyly, Hyperte... OMIM:139210
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Contracture of the... OMIM:618223
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Ventricular septal defect, Dilated cardiomyopathy, Edema, Skeletal muscle atrophy... OMIM:607598
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... ORPHA:189439
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal right hemidiaphragm morphology, Ascending tubular aorta aneurysm, Flexion contracture, M... ORPHA:536471
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Common carotid artery aneurysm, Aortic... OMIM:613834
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Decreased muscle mass, Congestive heart failure, Atrial septal defect, Facial hyp... ORPHA:500533
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia OMIM:617450
7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Conge... ORPHA:96121
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Pulmonary arterial hypertension, Patent ductus arteriosus, Secundum atrial septal defect, Cor tri... OMIM:612541
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Camptodactyly of finger, Ventricular septal defect, Camptodactyly of to... ORPHA:261337
Cantu Syndrome
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... OMIM:239850
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Diaphragmatic eventration, Dilated cardiomyopathy, Congestive heart failure... OMIM:610198
Schuurs-Hoeijmakers Syndrome
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Abnormal cardiac septum mo... OMIM:615009
Microphthalmia, Syndromic 2
Patent ductus arteriosus, Double outlet right ventricle, Flexion contracture, Ventricular septal ... OMIM:300166
Loeys-Dietz Syndrome 3
Aortic tortuosity, Ventricular hypertrophy, Camptodactyly, Ascending aortic dissection, Thoracic ... OMIM:613795
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Ventricular septal defect, Vascular ring, Atrial septal defect, Mitral ... OMIM:603387
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Camptodactyly, Left ventricular hypertrophy, Pulmonic stenosis, Small t... OMIM:619148
Dyrk1A-Related Intellectual Disability Syndrome
Patent ductus arteriosus, Ventricular septal defect, Multiple joint contractures, Oligohydramnios... ORPHA:464306
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Arrhythmia, Membranous subvalvular aortic stenosis ORPHA:3191
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Peau d'orange, Cerebral hemorrhage, Premature occlusive vascular stenosis, Mi... OMIM:177850
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Atrial septal defect, Abnormal heart morphology, Joint contracture... ORPHA:352490
Autoimmune Polyendocrinopathy Type 1
Decreased circulating aldosterone level, Increased circulating cortisol level, Abnormal cerebral ... ORPHA:3453
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Atrial septal defect, Coarctation of aorta OMIM:615502
Leopard Syndrome 1
Subvalvular aortic stenosis, Third degree atrioventricular block, Bundle branch block, Mitral val... OMIM:151100
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:500159
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Aortic regurgitation, Hypertroph... OMIM:607721
Coffin-Siris Syndrome 7
Polyhydramnios, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Oligohydr... OMIM:618027
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Bicuspid aortic valve OMIM:176690
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Patent ductus arteriosus, Patent foramen ovale, Abnormal cardiac ventricular function, Ventricula... ORPHA:466791
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Macroglossia, Ventricular septal defect, Perimembranous ventricular septal defect OMIM:301040
Mosaic Variegated Aneuploidy Syndrome 1
Embryonal rhabdomyosarcoma, Pulmonic stenosis, Atrial septal defect, Oligohydramnios OMIM:257300
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm, Cryptorchidism ORPHA:261102
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Camptodactyly, Ventricular septal defect, Atrial septal defect OMIM:300963
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, Patent foramen ovale, Increased variability in muscle fiber diameter, F... OMIM:616866
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
16P12.1P12.3 Triplication Syndrome
Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology, Atrial septal defect ORPHA:485405
Pseudoxanthoma Elasticum
Retinal hemorrhage, Restrictive cardiomyopathy, Accelerated atherosclerosis, Mitral stenosis, Mit... OMIM:264800
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Mitral valve prolapse, Mitral regurgitation, Hypertension OMIM:173900
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Patent ductus arteriosus, Camptodactyly of finger, Vascular dilatation... ORPHA:284984
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Tbck-Related Intellectual Disability Syndrome
Diastasis recti, Ventricular septal defect, Macroglossia, Oligohydramnios, Skeletal muscle atroph... ORPHA:488632
Cardiofaciocutaneous Syndrome
Lymphedema, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart ... ORPHA:1340
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Fragile X Syndrome
Macroorchidism, Mitral valve prolapse, Ascending tubular aorta aneurysm ORPHA:908
Congenital Rubella Syndrome
Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular septal defect, Atrial ... ORPHA:290
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect OMIM:614261
Turnpenny-Fry Syndrome
Patent ductus arteriosus, Polyhydramnios, Mitral valve prolapse, Torticollis, Atrial septal defec... OMIM:618371
Developmental And Epileptic Encephalopathy 90
Limb hypertonia, Atrial septal defect OMIM:301058
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly, Coarctation of aorta, Dextrocardia, Cryptorchidism, Ove... OMIM:616145
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Left ventricular diastolic dysfunction, Atherosclerosis, Angina pectoris... ORPHA:740
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Abnormal circulat... ORPHA:404
Seizures-Scoliosis-Macrocephaly Syndrome
Polyhydramnios, Atrial septal defect ORPHA:466926
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral valve prolapse, Mitral regurgitation OMIM:225320
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Patent foramen ovale, Valvular pulmonary stenosis, Bicuspid aortic valve, Atrial septal defect, P... OMIM:300707
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting, Mitral valve prolapse, Quadricuspid aortic valve OMIM:606408
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Aortic aneurysm, Arthrogrypo... ORPHA:115
Williams Syndrome
Sudden cardiac death, Aortic arch aneurysm, Abnormal cardiac septum morphology, Abnormal carotid ... ORPHA:904
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... OMIM:618619
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Bicuspid aortic valve, Mit... OMIM:617168
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Coarctati... OMIM:618494
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale, Generalized amyotrophy, Pelvic girdle muscle weakness, Myopathy, Shoulder g... OMIM:615156
Frontometaphyseal Dysplasia 2
Patent ductus arteriosus, Patent foramen ovale, Decreased muscle mass, Hip contracture, Bicuspid ... OMIM:617137
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophi... ORPHA:75249
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Ventricular septal defect, Camptodactyly, Atrial septal defect, Mitral regu... OMIM:301039
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplastic right heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:618142
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral valve prolapse, Camptodactyly, Mitral regurgitation, Facial hypotonia OMIM:615539
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Prune Belly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Aplas... ORPHA:2970
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:618316
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Transaldolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Telangiectasia, Ventricular septal defect, Atrial... OMIM:606003
Fragile X Syndrome
Congenital macroorchidism, Mitral valve prolapse, Macroorchidism, postpubertal OMIM:300624
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Cardiomyopathy, Muscle fiber atrophy, Generalized... OMIM:258450
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:329224
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Mend Syndrome
Aortic valve stenosis, Abnormal heart morphology, Limb hypertonia ORPHA:401973
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect ORPHA:261295
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Charge Syndrome
Patent ductus arteriosus, Polyhydramnios, Double outlet right ventricle, Ventricular septal defec... OMIM:214800
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618870
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Ascending tubular aorta aneurysm, Truncus arteriosus, Perimembranous ve... OMIM:612474
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Bicuspid aortic valve, Ventricular septal defect OMIM:617751
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Bicuspid aortic valve, Atrial... ORPHA:353281
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortica... ORPHA:403
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Melnick-Needles Syndrome
Pulmonary arterial hypertension, Mitral valve prolapse, Stillbirth, Tricuspid valve prolapse OMIM:309350
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Aortic arch calcification, Muscle fiber atrophy, Congestive heart fa... OMIM:182250
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Distal arthrogryposis, Diastasis recti, Mitral valve prolapse, Atrial septal defect, Aortic regur... OMIM:601776
Okamoto Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ventricle morphology, ... ORPHA:2729
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Patent foramen ovale, Restrictive cardiomyopathy, Flexion contracture, Camptodactyly, Mitral regu... ORPHA:88630
Megalencephaly
Atrial septal defect ORPHA:2477
Feingold Syndrome Type 1
Patent ductus arteriosus, Interrupted aortic arch, Abnormal heart morphology, Multiple muscular v... ORPHA:391641
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve, Foot joint contracture OMIM:619641
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Arthrogry... OMIM:208085
Dohle Bodies And Leukemia
Secundum atrial septal defect, Lymphedema OMIM:223350
Right Pulmonary Artery, Anomalous Origin Of, Familial