Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Tll1 MGI:106923

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

tolloid-like

Synonyms:

Tll-1, b2b2476Clo

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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 Tll1 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.

Human diseases associated with Tll1 (3 diseases)
Human diseases predicted to be associated with Tll1 (1307 diseases)

The table below shows human diseases associated to Tll1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped...	ORPHA:99103
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087

The table below shows human diseases predicted to be associated to Tll1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I...	OMIM:611880
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec...	OMIM:270100
Genitopalatocardiac Syndrome	Right aortic arch, Ventricular septal defect, Transposition of the great arteries, Double outlet ...	OMIM:231060
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei...	OMIM:613854
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic...	OMIM:613255
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he...	ORPHA:3400
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Cardiomyopathy, Dilated, 1B	Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Vascular dilatation, Im...	OMIM:600884
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr...	OMIM:613286
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,...	ORPHA:860
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Atrial Septal Defect 2	Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def...	OMIM:607941
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Secundum atrial septal defect	OMIM:620203
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp...	ORPHA:1330
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok...	ORPHA:1457
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Dilatation of the cerebr...	ORPHA:615
Scimitar Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At...	ORPHA:185
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Pallor, Ventricular septal defect, Stroke, Paroxysmal atrial tachycardi...	ORPHA:49827
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
Cranioacrofacial Syndrome	Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Right Atrial Isomerism	Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr...	OMIM:208530
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o...	OMIM:217095
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran...	OMIM:606217
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Prolonged bleeding time, Congestive heart...	ORPHA:90308
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Ventricular septal defect, Overriding aorta, Atrial septal defect, Hydrocele testis, Patent ductu...	OMIM:601927
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped...	ORPHA:2299
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Tetralogy of Fallot, Cryptorchidism, Persistent left superior vena cava, Overriding aorta, Double...	ORPHA:3304
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Nemaline Myopathy 9	Nemaline bodies, Ventricular septal defect, High palate, Arthrogryposis multiplex congenita, Clef...	OMIM:615731
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:617992
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca...	OMIM:619371
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect	OMIM:619608
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Congenital Gerbode Defect	Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en...	ORPHA:99095
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus...	OMIM:618845
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:614432
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ...	OMIM:618719
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Hepatomega...	OMIM:115197
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Narrow palate, Ventricular septal defect, Cardiom...	OMIM:617022
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Neurocardiofaciodigital Syndrome	Tetralogy of Fallot, Double inlet left ventricle, Atrial septal defect, Patent ductus arteriosus	OMIM:619869
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm...	ORPHA:154
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val...	ORPHA:1880
Ciliary Dyskinesia, Primary, 53	Polysplenia, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persi...	OMIM:620642
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Aneurysm Of Interventricular Septum	Vascular dilatation, Abnormal ventricular septum morphology	OMIM:105805
Distal 7Q11.23 Microdeletion Syndrome	Patent ductus arteriosus, Atrial septal defect	ORPHA:254351
Eng-Strom Syndrome	Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor...	ORPHA:99050
Mesoaxial Hexadactyly And Cardiac Malformation	Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:249670
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect, Hydrocele testis	OMIM:620062
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric...	OMIM:314400
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Hepatic bridging fibrosis, Portal inflammation, Ventricular septal defect, Elevated circulating a...	OMIM:613759
Whim Syndrome 2	Tetralogy of Fallot, Chronic neutropenia	OMIM:619407
Double Outlet Right Ventricle	Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Intestinal malrota...	ORPHA:3426
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve...	ORPHA:477817
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Birk-Aharoni Syndrome	Muscular ventricular septal defect, Cryptorchidism, Macrocytic anemia	OMIM:620071
Endocardial Fibroelastosis	Endocardial fibroelastosis, Restrictive cardiomyopathy, Congestive heart failure	ORPHA:2022
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas...	OMIM:619048
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio...	ORPHA:90064
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n...	OMIM:613426
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox...	OMIM:253300
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re...	ORPHA:99105
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav...	ORPHA:45453
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Intestinal malrotation, Dextrotransposition of the grea...	OMIM:619657
Transaldolase Deficiency	Premature skin wrinkling, Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctat...	ORPHA:101028
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ...	OMIM:220210
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Fanconi Anemia, Complementation Group Q	Primum atrial septal defect, Biliary atresia	OMIM:615272
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction...	OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Arterial calcification, Congestive heart failure, Tricuspid...	OMIM:614473
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu...	OMIM:616749
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar...	ORPHA:363705
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Oligohydramnios, Pallor, Hepatomegaly, Polyhydramnios, Hydrops fetalis,...	ORPHA:163596
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Cardiomyopathy, Familial Hypertrophic, 26	Atrioventricular block, Left anterior fascicular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic...	ORPHA:2248
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Cirrhotic Cardiomyopathy	Pulmonary edema, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Hepatomegaly, Fourth he...	ORPHA:57777
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effusion, Pulmonary arterial ...	ORPHA:2414
Recombinant Chromosome 8 Syndrome	Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe...	OMIM:179613
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Patent d...	ORPHA:980
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve...	OMIM:306955
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Unbalanced atrioventricular canal defect, Cholestasis, ...	OMIM:619534
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
Fetal Minoxidil Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:1918
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At...	ORPHA:3384
Combined Oxidative Phosphorylation Deficiency 23	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:616198
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly, High...	OMIM:618804
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Polysplenia, Atrioventricular canal defect, ...	OMIM:605376
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m...	ORPHA:1354
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ...	ORPHA:261243
Laubry-Pezzi Syndrome	Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul...	ORPHA:99094
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Fadd-Related Immunodeficiency	Hepatic fibrosis, Pulmonary artery atresia, Decreased liver function, Ventricular septal defect	ORPHA:306550
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Perimembranous ventricular septal...	OMIM:611376
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Ventricular septal defect	OMIM:614876
Feingold Syndrome Type 2	Jejunal atresia, Ventricular septal defect	ORPHA:391646
Atrial Septal Defect 4	Coarctation of aorta, Atrial septal defect, Patent foramen ovale	OMIM:611363
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Paten...	OMIM:126320
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Indomethacin Embryofetopathy	Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis	ORPHA:1909
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:615440
Adams-Oliver Syndrome 4	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:615297
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Elevated circula...	OMIM:620609
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Grange Syndrome	Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a...	ORPHA:79094
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy	OMIM:226100
Feingold Syndrome 2	Intestinal atresia, Ventricular septal defect	OMIM:614326
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Decreased circulating T4 concentration, Cryptorchidism, Perimembranou...	OMIM:608104
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes...	ORPHA:3405
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Velopharyngeal insufficiency, Abnormal heart morphology, Muscular ventricular septal defect, Peri...	ORPHA:363444
Congenital Myopathy 11	Elevated circulating hepatic transaminase concentration, Patent foramen ovale, Atrial septal defe...	OMIM:619967
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect	OMIM:235750
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate...	OMIM:616276
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges...	OMIM:613313
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Stroke-like episode, Left ventricular hypertrophy, Arrhythmia, Wolff-Pa...	OMIM:540000
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula...	OMIM:600001
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect, Median cleft palate, Hypoplasia of the thymus,...	ORPHA:40366
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, High palate, Atrial septal defect	OMIM:618354
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Idiopathic Pulmonary Arterial Hypertension	Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res...	ORPHA:275766
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,...	OMIM:617877
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis, High palate	OMIM:618205
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	ORPHA:228190
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:206546
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl...	OMIM:619313
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Congestive heart failure, Abnormal heart morphology, Hypertrophic cardi...	ORPHA:70472
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Multiple muscular ventricular septal defects, Aortic aneurysm, Limb hypertonia, Atrial septal def...	OMIM:620070
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Elevated circulating aspartate aminotransferase...	OMIM:610198
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:613561
Aortic Aneurysm, Familial Thoracic 9	Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm, ...	OMIM:616166
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:608099
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Adrenal insufficiency, Pulmonic stenosis, Ventricular septal defect	ORPHA:251076
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Mass Syndrome	Ascending aortic dissection, Striae distensae, Aortic aneurysm, Mitral valve prolapse	OMIM:604308
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification...	OMIM:208000
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Elevated circulating aspar...	OMIM:212140
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Arteriovenous malformation, Chylothorax, Abnormal bleeding, Lymphedema, Abnormal heart...	ORPHA:137667
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysgenesis	OMIM:615542
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit...	OMIM:614262
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t...	OMIM:618300
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
American Trypanosomiasis	Periorbital edema, Cardiomyopathy, Congestive heart failure, Pallor, Hepatomegaly, Arrhythmia, My...	ORPHA:3386
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation	ORPHA:1110
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hepatomega...	OMIM:618234
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Stroke, Heart murmur, Dil...	ORPHA:1054
Aortic Valve Disease 3	Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi...	OMIM:618496
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Redundant skin, Congestive heart failure	OMIM:301021
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather...	OMIM:132900
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri...	OMIM:612561
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Aortic regurgitation, Aortic root aneurysm, Aortic dissection...	ORPHA:229
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of ...	ORPHA:1166
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Cleft palate, Ventricular septal defect	OMIM:601355
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Catel-Manzke Syndrome	Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Glossoptosis, Cleft palate	ORPHA:1388
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Trun...	OMIM:601186
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,...	ORPHA:367
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Biventricular hypertrophy, H...	OMIM:255160
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Arrhythmia, Cirrhosis, Hepatome...	OMIM:602390
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism,...	OMIM:615524
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Cardiomegaly, Hepatomegaly, Hydrops fetalis	OMIM:269920
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur...	ORPHA:330001
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu...	ORPHA:2326
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,...	OMIM:611126
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus	OMIM:604381
Dk1-Cdg	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart...	ORPHA:91131
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou...	OMIM:618316
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Ventricular septal defect	OMIM:209770
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia	ORPHA:276556
Mmep Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:3434
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Increased serum...	OMIM:618901
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped...	ORPHA:99103
Morbid Obesity And Spermatogenic Failure	Premature coronary artery atherosclerosis, Congestive heart failure, Hepatic steatosis, Hypertens...	OMIM:615703
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ...	ORPHA:371428
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v...	OMIM:611705
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ectopic anus, Cleft palate, Ventricular septal defect	ORPHA:2476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Cleft palate	ORPHA:217
8p23.1 deletion syndrome	Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect	DECIPHER:39
Sandhoff Disease	Hepatomegaly, Congestive heart failure, Cherry red spot of the macula	ORPHA:796
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Leukocytosis, Autoimmune hem...	OMIM:243150
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Congestive heart failure	ORPHA:324588
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse	ORPHA:2868
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia	ORPHA:276575
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Redundant...	OMIM:618652
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra...	OMIM:108800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia	ORPHA:276580
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Mitral Valve Prolapse 1	Striae distensae, Mitral regurgitation, Mitral valve prolapse	OMIM:157700
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure...	OMIM:235200
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Cardiomyopathy, Congestive heart failure, Oligohydramnios, Patent ...	OMIM:616866
Cyclic Vomiting Syndrome	Pallor, Cardiomyopathy	OMIM:500007
Desminopathy	Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Suprave...	ORPHA:98909
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Polyhydramnios, Atrial septal defect, Congestive heart failure	ORPHA:500533
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ...	OMIM:615067
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin, Prominent superficial veins, Hepatic hemang...	ORPHA:141179
Mulibrey Nanism	Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Hydrops ...	OMIM:253250
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Bruising susceptibility, Mitral valve prolapse, Stroke, Arrhythmia, ...	ORPHA:230839
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Double ...	OMIM:614886
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Cleft palate, Ventricular septal defect	OMIM:616898
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death	OMIM:601612
Meacham Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep...	OMIM:608978
Rheumatic Fever	Epistaxis, Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, A...	ORPHA:3099
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Criss-Cross Heart	Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep...	ORPHA:1461
Methimazole Embryofetopathy	Abnormality of the thyroid gland, Abnormal aortic morphology, Ventricular septal defect, Coarctat...	ORPHA:1923
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A...	ORPHA:363618
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Partial atrioventricular canal defect, Hepatic steatosis, Ventricular sep...	OMIM:615996
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis...	OMIM:609008
Sotos Syndrome	High, narrow palate, Narrow palate, Muscular ventricular septal defect, Cryptorchidism, Ventricul...	OMIM:117550
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Noonan Syndrome 12	Tetralogy of Fallot, Supravalvular aortic stenosis, Polyhydramnios, Ventricular septal defect	OMIM:618624
Congenital Tracheomalacia	Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti...	ORPHA:95430
Mitral Valve Prolapse 2	Mitral regurgitation, Mitral valve prolapse	OMIM:607829
Mitral Valve Prolapse 3	Mitral regurgitation, Mitral valve prolapse	OMIM:610840
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Cryptorchidism, Myopathy, Ventricular septal defect	OMIM:616816
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Dextrocardia	OMIM:106700
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Oligohydram...	ORPHA:2729
Linear Skin Defects With Multiple Congenital Anomalies 1	Colonic atresia, Anteriorly placed anus, Congenital diaphragmatic hernia, Histiocytoid cardiomyop...	OMIM:309801
Chromosome 9P Deletion Syndrome	High, narrow palate, Narrow palate, Ventricular septal defect, Perimembranous ventricular septal ...	OMIM:158170
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Hypertrophic cardiomyopathy, Oligohydramnios, Abnormal pulmonary valve ...	ORPHA:1194
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating hepatic transaminase concentration, Redundant neck skin, Ventricular septal ...	OMIM:301056
Fabry Disease	Lymphedema, Congestive heart failure, Transient ischemic attack, Ventricular septal hypertrophy, ...	OMIM:301500
Hadziselimovic Syndrome	Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Anal atresia, Atrial sep...	OMIM:612946
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect	OMIM:217085
14Q11.2 Microdeletion Syndrome	High palate, Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Truncus arter...	OMIM:617478
Hereditary Butyrylcholinesterase Deficiency	Abnormality of the liver, Abnormal circulating enzyme concentration or activity, Myocardial infar...	ORPHA:132
Dilated Cardiomyopathy With Ataxia	Diaphragmatic eventration, Dilated cardiomyopathy, Bilateral cryptorchidism, Muscular ventricular...	ORPHA:66634
Von Willebrand Disease, Type 1	Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged...	OMIM:193400
Ciliary Dyskinesia, Primary, 37	Right aortic arch, Situs inversus totalis, Dextrocardia	OMIM:617577
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Low-output congestive heart failure	ORPHA:91130
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin, Prominent superficial veins, Hepatic hemang...	ORPHA:141184
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesophageal fistula, Esoph...	OMIM:619227
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Pulmonary edema, Ventricular fibrillation, Increased myocardial glycog...	OMIM:261740
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Coarctation of aorta, Cleft palate	OMIM:620210
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc...	ORPHA:732
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior...	ORPHA:244
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, P...	OMIM:615355
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Beta-Thalassemia	Cholelithiasis, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy, Pallor, Hepatomegaly	ORPHA:848
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa...	ORPHA:1913
Wolcott-Rallison Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Abnormal...	ORPHA:1667
Intellectual Developmental Disorder, Autosomal Recessive 47	Mitral valve prolapse	OMIM:616193
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Ret...	OMIM:615550
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ...	ORPHA:324410
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Palmoplantar scaling...	OMIM:605676
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Elevated circu...	ORPHA:99901
Hydrops Fetalis, Nonimmune	Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:236750
Tetralogy Of Fallot	Tetralogy of Fallot	ORPHA:3303
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral valve pro...	ORPHA:228410
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Xk Aprosencephaly Syndrome	Anal atresia, Atrial septal defect, Ventricular septal defect	ORPHA:3469
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa...	OMIM:612158
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Li-Campeau Syndrome	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:619189
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de...	OMIM:616652
Phenobarbital Embryopathy	Tetralogy of Fallot, Abnormal mitral valve morphology	ORPHA:1919
Aortic Valve Disease 2	Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa...	OMIM:614823
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Retinal hemorrhage, Mitral v...	OMIM:177850
Maternal Phenylketonuria	Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect...	ORPHA:2209
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ectopic anus, Cleft palate, Ventricular septal defect	ORPHA:94066
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:261183
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, C...	ORPHA:2516
Classic Multiminicore Myopathy	Right ventricular failure, Right ventricular hypertrophy, Mitral valve prolapse, Congestive heart...	ORPHA:324604
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:618330
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure	ORPHA:1349
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Renal Tubular Dysgenesis	Tetralogy of Fallot, Oligohydramnios, Polyhydramnios	ORPHA:3033
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Congestive heart failure	OMIM:606703
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Petechiae, Striae distensae, Bruising susceptibility, Mitral valve prolapse	OMIM:225310
14Q24.1Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P...	ORPHA:401935
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ...	ORPHA:392
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu...	ORPHA:66529
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Dry skin, Oligohydramnios, Mitral sten...	ORPHA:163956
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormal cerebral vascular morphology, B...	ORPHA:758
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Tet...	ORPHA:210122
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Pallor	ORPHA:46532
Ehlers-Danlos Syndrome, Hypermobility Type	Striae distensae, Mitral valve prolapse	OMIM:130020
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Immunodeficiency 42	Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Catel-Manzke Syndrome	Bifid uvula, Cryptorchidism, Ventricular septal defect, Overriding aorta, Coarctation of aorta, D...	OMIM:616145
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery...	ORPHA:90065
Adams-Oliver Syndrome 6	Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Truncus arteriosus, Ventricular s...	OMIM:616589
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardiomyopathy, Abnormal hear...	OMIM:230500
Short Stature-Wormian Bones-Dextrocardia Syndrome	Patent ductus arteriosus, Dextrocardia	ORPHA:2863
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Atrial septal defect, Tachycardia, Hypertension, Patent ductus arteriosus	OMIM:613870
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Contracture of...	OMIM:618223
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Arrhythmia, Atrial sep...	OMIM:249270
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Myopathy, Neutropenia, High palate, Patent ductu...	OMIM:612541
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Transposition ...	OMIM:314390
Combined Oxidative Phosphorylation Deficiency 28	Polyhydramnios, Congestive heart failure	OMIM:616794
Pericardial And Diaphragmatic Defect	Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal...	ORPHA:2847
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Cardiomegaly, Hepatomegaly, Heart murmur	ORPHA:99931
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Apert Syndrome	Bifid uvula, Cryptorchidism, Ventricular septal defect, Overriding aorta, Ectopic anus, Esophagea...	OMIM:101200
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Micronodular cirrhosis, Congestive heart ...	ORPHA:139507
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Interrupted aortic arch, Aplasia/Hypoplasia of the thymus, Tetralogy of F...	ORPHA:1727
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Cardiomegaly, Arrhythmia, Reduced phytanic acid oxidase...	OMIM:266500
Pparg-Related Familial Partial Lipodystrophy	Prominent veins on trunk, Congestive heart failure, Hypertrophic cardiomyopathy, Atherosclerosis,...	ORPHA:79083
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Redundant s...	OMIM:123700
Cednik Syndrome	Stroke, Congestive heart failure	ORPHA:66631
Down Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten...	OMIM:190685
Tyshchenko Syndrome	High, narrow palate, Narrow palate, Supernumerary nipple, Cryptorchidism, Ventricular septal defe...	OMIM:615102
Familial Isolated Restrictive Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Peripheral edema, Mitral regurgitation, Pul...	ORPHA:75249
Halperin-Birk Syndrome	Perimembranous ventricular septal defect, Flexion contracture, Congenital diaphragmatic hernia, H...	OMIM:618651
Giant Cell Arteritis	Vasculitis, Epistaxis, Hepatic failure, Aortic dissection, Double outlet right ventricle with sub...	ORPHA:397
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral stenosis, Mi...	OMIM:616564
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Oligohydr...	OMIM:606003
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:618974
Hoxha-Aliu Syndrome	Perimembranous ventricular septal defect, High palate, Atrial septal defect, Contracture of the p...	OMIM:620662
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:618948
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hepatic cysts, Mitral regurgitation, Cerebral berry aneurysm, Mitral valve prolapse, Hypertension	OMIM:173900
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Atrial septal defect, Pulmonic stenosis	OMIM:618499
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Redundan...	OMIM:618164
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Prolonged bleeding t...	OMIM:618280
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Muscular ventricular septal defect, Intrinsic hand muscle atrophy, Hypothyroidism	OMIM:618569
Noonan Syndrome 9	Prolonged prothrombin time, Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Eosinophilic infiltration of the esophagus, Multiple muscular ventricular septal defects, Pulmoni...	OMIM:615508
Amoebiasis Due To Entamoeba Histolytica	Elevated circulating hepatic transaminase concentration, Congestive heart failure, Abnormal peric...	ORPHA:67
Weill-Marchesani Syndrome	Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect	ORPHA:3449
Delpire-Mcneill Syndrome	Tracheoesophageal fistula, Ventricular septal defect	OMIM:619083
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Atherosclerosis, Hepatic steatosis, Corona...	ORPHA:2348
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart...	OMIM:609015
Syndromic Diarrhea	Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia...	ORPHA:84064
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Seckel Syndrome 10	Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas...	OMIM:617253
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:94080
Feingold Syndrome Type 1	Interrupted aortic arch, Duodenal atresia, Abnormal heart morphology, Multiple muscular ventricul...	ORPHA:391641
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,...	ORPHA:2306
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert...	ORPHA:3342
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va...	ORPHA:284169
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft palate, Ventricular septal defect	OMIM:214300
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Skeletal muscle atrophy, Splenomegaly, Protruding tongue, Perimemb...	OMIM:608779
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Erythema, Skin ulcer, Congestive heart failur...	ORPHA:727
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Ventricular septal defect, Atrial septal defect, Stillbirth, Polyhydramnios	OMIM:263630
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Linear Skin Defects With Multiple Congenital Anomalies 2	Tetralogy of Fallot, Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect	OMIM:300887
Diabetic Embryopathy	Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular...	ORPHA:1926
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Complete atrioventricular canal defect	OMIM:619142
Lambert Syndrome	Cholestasis, Jaundice, Intrahepatic biliary atresia, Ventricular septal defect	ORPHA:1296
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Optic Atrophy 8	Mitral regurgitation, Mitral valve prolapse	OMIM:616648
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Viral hepatitis, Congestive heart failure, Abnormal hear...	ORPHA:91139
Stuve-Wiedemann Syndrome 2	Neonatal death, Pulmonary arterial hypertension, Stillbirth, Congestive heart failure	OMIM:619751
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect	OMIM:616277
Tetraamelia Syndrome 2	Absent nipple, Ankyloglossia, Ventricular septal defect, Hypoplastic pulmonary veins, Glossoptosi...	OMIM:618021
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog...	ORPHA:183
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Cryptorchidism, Protruding tongue, Ventricular septal defect, Perimembranous vent...	OMIM:301040
Double Outlet Left Ventricle	Systolic heart murmur, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmona...	ORPHA:3427
Kawasaki Disease	Vasculitis, Hepatitis, Double outlet right ventricle with subpulmonary ventricular septal defect ...	ORPHA:2331
Peroxisome Biogenesis Disorder 2A (Zellweger)	Joint contracture of the hand, Abnormal heart morphology, Cryptorchidism, Hypoplasia of the thymu...	OMIM:214110
Trigonocephaly With Short Stature And Developmental Delay	High palate, Ventricular septal defect	OMIM:314320
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left vent...	OMIM:620646
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Congenital Rubella Syndrome	Abnormality of the pulmonary artery, Ventricular septal defect, Atrial septal defect, Hepatomegal...	ORPHA:290
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Atrioventricular canal defect, Tricuspid regurgitation, Abnormal aortic valve morphology, Bicuspi...	ORPHA:1120
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Dextrocardia, Ventricular septal defect	OMIM:616037
Alagille Syndrome 2	Cholestatic liver disease, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Cholestasis...	OMIM:610205
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Co...	ORPHA:3097
Diamond-Blackfan Anemia 5	Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia	OMIM:612528
Dextrocardia	Abnormal EKG, Abnormal heart morphology, Situs inversus totalis, Abnormality of the pulmonary art...	ORPHA:1666
Alpha-Thalassemia	Generalized edema, Cholelithiasis, Congestive heart failure, Hepatosplenomegaly, Pleural effusion...	ORPHA:846
Short Stature And Facioauriculothoracic Malformations	High palate, Cleft palate, Ventricular septal defect	OMIM:609654
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Congestive heart failure, Dilatation of the ventricular cav...	ORPHA:90349
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl...	OMIM:300400
Alg12-Cdg	Biventricular hypertrophy, Muscular ventricular septal defect, Intestinal malrotation, Cryptorchi...	ORPHA:79324
Fanconi Anemia, Complementation Group I	Pallor, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:609053
Monosomy 18Q	Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ...	ORPHA:1600
Aase-Smith Syndrome I	Flexion contracture, Cleft palate, Ventricular septal defect	OMIM:147800
Cap Myopathy	Reduced systolic function, Aortic root aneurysm, Sinus tachycardia, Mitral valve prolapse	ORPHA:171881
Chromosome 5Q12 Deletion Syndrome	Hypotension, Increased nuchal translucency, Patent foramen ovale, Ventricular septal defect, Atri...	OMIM:615668
Trigonocephaly-Short Stature-Developmental Delay Syndrome	High palate, Ventricular septal defect	ORPHA:3369
Atelis Syndrome 1	Leukopenia, Ventricular septal defect, Hypothyroidism, Atrial septal defect, Thrombocytopenia, An...	OMIM:620184
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Dilated cardiomyopathy, Edema, Ventricular septal defect	OMIM:607598
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Dextrocardia, Ventricular septal defect	OMIM:618067
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Arterial dissection, Abnormal bleeding, Aortic dissection, Abnormal venous morphology, Congestive...	ORPHA:1900
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Hypertensio...	OMIM:613834
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure, Arteriovenous malformation, Excessive wrinkled skin, Venous insufficiency	ORPHA:137608
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Bruising susceptibility, Mitral regurgitation, Mitral valve prolapse	OMIM:225320
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Portal hypertension, Joint swelling, Cardiomegaly, Arrh...	ORPHA:465508
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept...	OMIM:601808
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Dextrocardia	OMIM:614679
Waldenström Macroglobulinemia	Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ...	ORPHA:33226
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Abnormal heart morphology, Oligohydramnios, Increased nuchal translucency, Patent foramen ovale, ...	OMIM:618494
Hutchinson-Gilford Progeria Syndrome	Premature coronary artery atherosclerosis, Congestive heart failure, Angina pectoris, Precocious ...	OMIM:176670
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:614576
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Cardiomyopathy, Conge...	ORPHA:52430
Gm1 Gangliosidosis	Cardiomyopathy, Cherry red spot of the macula, Abnormal heart morphology, Congestive heart failur...	ORPHA:354
Combined Immunodeficiency-Enteropathy Spectrum	Type I diabetes mellitus, Jejunoileal ulceration, Intestinal malrotation, Autoimmune hemolytic an...	ORPHA:436252
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi...	OMIM:619910
Charge Syndrome	Lymphopenia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial septal defect, H...	OMIM:214800
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus...	ORPHA:555877
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Duodenal atresia, Median cleft palate, Patent foramen ovale, Ventricular ...	OMIM:301043
Deafness-Lymphedema-Leukemia Syndrome	Bruising susceptibility, Lymphedema, Pallor, Hepatomegaly, Intracranial hemorrhage, Prolonged ble...	ORPHA:3226
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Dextrocardia	OMIM:611884
Boudin-Mortier Syndrome	Elevated alkaline phosphatase of bone origin, Aortic root aneurysm, Mitral valve prolapse	OMIM:619543
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Mitral valve prolapse	OMIM:211960
Lessel-Kreienkamp Syndrome	Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm...	OMIM:619149
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot, Anal atresia, Cryptorchidism	ORPHA:1381
Fumarase Deficiency	Perimembranous ventricular septal defect, High palate, Polycythemia, Necrotizing enterocolitis	OMIM:606812
Ectopia Lentis 1, Isolated, Autosomal Dominant	Striae distensae, Aortic root aneurysm, Mitral valve prolapse	OMIM:129600
Familial Idiopathic Dilatation Of The Right Atrium	Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Abnormal jugular vein mo...	ORPHA:1677
Congenital Generalized Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Cirrhosis, Prominent su...	ORPHA:528
Immune-Mediated Necrotizing Myopathy	Myocarditis, Palpitations, Raynaud phenomenon, Congestive heart failure	ORPHA:206569
Evans Syndrome	Epistaxis, Bruising susceptibility, Pallor, Petechiae, Syncope, Jaundice	ORPHA:1959
Muscular Dystrophy, Duchenne Type	Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia	OMIM:310200
Camurati-Engelmann Disease, Type 2	Elevated circulating alkaline phosphatase concentration, Mitral regurgitation, Mitral valve prolapse	OMIM:606631
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Mitral regurgitation, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:301039
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat...	OMIM:614921
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Tricuspid regurgitation, Coarctation of aorta, Dextrocardia	OMIM:618929
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Congenital diaphrag...	OMIM:301022
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615279
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Situs inversus totalis, Hepatic cysts, Elevated circula...	OMIM:613095
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Bilateral cryptorchidism, Muscle f...	OMIM:619542
Meckel Syndrome 14	Hepatic fibrosis, Tricuspid regurgitation, Oligohydramnios, Increased nuchal translucency, Mitral...	OMIM:619879
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Cleft palate	OMIM:243440
Skraban-Deardorff Syndrome	Right aortic arch, Cleft palate, Ventricular septal defect	OMIM:617616
Meckel Syndrome, Type 7	Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Oligohydramnios, Situs...	OMIM:267010
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Dextrocardia	OMIM:618063
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Mitral regurgitation, Atrial septal defect, Vascular ring, Ventricular septal defect	OMIM:603387
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl...	OMIM:620454
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ...	ORPHA:97214
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect	OMIM:618142
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Mitral valve prolapse	ORPHA:2233
Woods Syndrome	Supernumerary nipple, Ventricular septal defect	OMIM:615236
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At...	OMIM:224700
Pseudotrisomy 13 Syndrome	Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s...	OMIM:264480
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se...	OMIM:153400
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:26791
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Neonatal death, Ventricular septal defect	OMIM:613730
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Developmental And Epileptic Encephalopathy 18	Polyhydramnios, Aortic regurgitation, Oligohydramnios, Atrial septal defect	OMIM:615476
Maternal Uniparental Disomy Of Chromosome X	Predominantly lower limb lymphedema, Hepatic failure, Congestive heart failure	ORPHA:261519
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat...	OMIM:208085
Transketolase Deficiency	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,...	ORPHA:488618
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Hepatosplenomegaly, Mitral regurgitation, Mitral valve prolapse, R...	ORPHA:309155
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary...	OMIM:265380
Joubert Syndrome 18	Camptodactyly, Lobulated tongue, Cleft palate, Ventricular septal defect	OMIM:614815
Serkal Syndrome	Malrotation of small bowel, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormali...	ORPHA:139466
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Ectopic anus, Anal atresia, Cleft palate	ORPHA:2345
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Pallor	ORPHA:75563
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation...	ORPHA:91387
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Ascites, ...	OMIM:617397
Atrial Septal Defect 9	Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect	OMIM:614475
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Atrioventricular canal defect, Bundle branch block, Abnormal pulmona...	ORPHA:500
Phace Association	Arterial stenosis, Congenital hypothyroidism, Ventricular septal defect, Lingual thyroid, Coarcta...	OMIM:606519
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Tetralogy of Fallot, Hypogonadism, Cryptorchidism, Ventricular septal defect,...	ORPHA:3306
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Combined Oxidative Phosphorylation Deficiency 22	Pulmonary arterial hypertension, Congestive heart failure	OMIM:616045
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Palpitations, Abnorm...	ORPHA:565612
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Lower limb hypertonia, High palate, Ventricular septal...	OMIM:619995
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothyroidism, Cryptorchidism, Ventricular septal defect	OMIM:619908
Prune Belly Syndrome	Volvulus, Tetralogy of Fallot, Decreased testicular size, Intestinal malrotation, Cryptorchidism,...	ORPHA:2970
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Ede...	ORPHA:20
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Aortic regurgitation, ...	ORPHA:402075
Lymphedema-Hypoparathyroidism Syndrome	Lymphedema, Mitral valve prolapse, Pulmonary lymphangiectasia	OMIM:247410
Hydrocephalus-Obesity-Hypogonadism Syndrome	Mitral valve prolapse	ORPHA:2183
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Mitral regurgitat...	ORPHA:746
Chromosome 6Q24-Q25 Deletion Syndrome	Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ...	OMIM:612863
Keutel Syndrome	Pulmonary artery stenosis, Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:85202
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect...	ORPHA:508498
Hyperinsulinism Due To Hnf1A Deficiency	Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia	ORPHA:324575
Poland Syndrome	Dextrocardia	OMIM:173800
Scorpion Envenomation	Erythema, Cardiogenic shock, Prominent U wave, Increased circulating lactate dehydrogenase concen...	ORPHA:466677
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Dextrocardia	ORPHA:2257
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Redundant neck skin, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal de...	ORPHA:2519
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent left superior ...	OMIM:618775
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Atherosclerosis, Hypertrophic cardiomyopathy, Congestive he...	ORPHA:280365
Noonan Syndrome 2	Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increased nuchal tran...	OMIM:605275
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Patent foramen ovale, Mitral regurgitation, Mitral valve prolapse	OMIM:615539
Loeys-Dietz Syndrome 4	Aortic root aneurysm, Aortic dissection, Bruising susceptibility, Arterial tortuosity, Dilatation...	OMIM:614816
Acute Myelomonocytic Leukemia	Abnormal bleeding, Pallor	ORPHA:517
Contractural Arachnodactyly, Congenital	Aortic root aneurysm, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bic...	OMIM:121050
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Hepatosplenomegaly, Pallor, High-output con...	ORPHA:231226
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor	ORPHA:276608
Fragile X Syndrome	Mitral valve prolapse, Ascending tubular aorta aneurysm	ORPHA:908
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Congestive heart failure, Striae distensae, Mitral regurgitation, Ventricu...	OMIM:608328
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Hematochezia, Dilation of Virchow-Robin spaces, Oligohydra...	ORPHA:261311
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar...	OMIM:175050
Digeorge Syndrome	Ovarian cyst, Ventricular septal defect, High palate, Patent ductus arteriosus, High, narrow pala...	OMIM:188400
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Coarctat...	OMIM:600460
Formiminoglutamic Aciduria	Abnormal circulating enzyme concentration or activity, Atrial septal defect	ORPHA:51208
Ciliary Dyskinesia, Primary, 25	Situs inversus totalis, Dextrocardia	OMIM:615482
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Ventricular septal defect, Hiatus hernia, Atrial septal defect, Pate...	OMIM:619769
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li...	OMIM:300845
Glycogen Storage Disease Iv	Hepatic failure, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Bra...	OMIM:232500
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Peripheral pulmonary artery stenosis, Morgagni diaphragmatic hernia, Right vent...	OMIM:613177
Babesiosis	Hepatic failure, Congestive heart failure, Hepatomegaly, Jaundice, Myocardial infarction	ORPHA:108
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Hypertrophic cardiomyopathy, Redundant skin, Right bundle branch block,...	OMIM:617403
Distal Deletion 15Q	Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl...	ORPHA:1596
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:500159
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect	OMIM:113301
Warsaw Breakage Syndrome	Tetralogy of Fallot, High palate, Ventricular septal defect	OMIM:613398
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, Ventricular septal ...	OMIM:618870
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Hepatic failure, Elevated circulating hepatic transaminase concentration, Congestive heart failur...	OMIM:619355
Noonan Syndrome 3	Bruising susceptibility, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal d...	OMIM:609942
Frank-Ter Haar Syndrome	Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o...	OMIM:249420
Lymphatic Malformation 6	Facial edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lymphedema, Ascites, P...	OMIM:616843
Fetal Encasement Syndrome	Tetralogy of Fallot	OMIM:613630
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Hypertrophic cardiomyopathy, Atrial septal defect, Hepatomegaly, Macrov...	OMIM:617303
Hereditary Spherocytosis	Cholelithiasis, Restrictive cardiomyopathy, Skin ulcer, Pallor, Hepatomegaly, Jaundice	ORPHA:822
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Pulmonary embolism, Portal fibrosis, Angioedema, Congestive heart failure...	ORPHA:3260
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bifid uvula, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perim...	OMIM:612474
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Striae distensae, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral r...	OMIM:617168
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Rubinstein-Taybi Syndrome 1	Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Leukemia,...	OMIM:180849
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Secundum atrial septal defect, Increased mean corpuscular volume, Tetr...	OMIM:612562
Congenital Muscular Dystrophy Due To Lmna Mutation	Arrhythmia, Congestive heart failure	ORPHA:157973
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Cryptorchidism, Ventricular septal defect	ORPHA:2772
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Aortic root aneurysm, Bruising susceptibility, Abnormal heart valve morphol...	ORPHA:230851
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Overriding aorta, Absent gallbladder	ORPHA:3186
Ogden Syndrome	Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Torticoll...	OMIM:300855
Lymphatic Malformation 13	Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Nonimmune hydrops fetalis, Neona...	OMIM:620244
Hydrocephaly-Low Insertion Umbilicus Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return	ORPHA:2184
Pelger-Huet Anomaly	Giant platelets, Median cleft palate, Foot dorsiflexor weakness, Ventricular septal defect, Hypos...	OMIM:169400
Optic Atrophy 1	Pallor	OMIM:165500
Tetrasomy 15Q26	Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus	OMIM:614846
Costello Syndrome	Hypertrophic cardiomyopathy, Redundant skin, Mitral valve prolapse, Ventricular septal defect, La...	ORPHA:3071
Friedreich Ataxia	Hypertrophic cardiomyopathy, Decreased pyruvate carboxylase activity, Abnormal EKG, Congestive he...	OMIM:229300
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ...	ORPHA:251071
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Anomalous ...	ORPHA:99104
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Increased hepatic glycogen content, Cardiomyopathy, Congestive heart failure	OMIM:619259
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure	ORPHA:85446
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie...	OMIM:192430
Kagami-Ogata Syndrome	Ventricular septal defect, Hepatomegaly, Pulmonary arterial hypertension, Atrial septal defect, P...	OMIM:608149
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hepatosplenomegaly, Cleft soft palate, Cryptorchidism, Hip contracture, Ventricular septal defect...	OMIM:619503
Phaver Syndrome	Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta, Ventricular septal defect	ORPHA:2876
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Dermal translucency, Arterial rupture, Bruising susceptibility, Atrial septal defect	OMIM:619115
Marfan Syndrome	Arterial dissection, Aortic regurgitation, Aortic root aneurysm, Aortic dissection, Pulmonary art...	ORPHA:558
Oculoauriculofrontonasal Syndrome	Cleft palate, Ventricular septal defect	ORPHA:398156
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Elevated circulating aspartate aminotr...	OMIM:280000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Abnormal heart morphology, Hypertrophic cardiomyopathy, Tricuspid regur...	ORPHA:505248
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Increased circulating lactate dehydrogenase concentration, Hypertrophic cardiomyopathy, Abnormal ...	ORPHA:308552
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Ventricular septal defect	OMIM:601357
Pentalogy Of Cantrell	Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Congenital...	ORPHA:1335
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric...	OMIM:618773
Ehlers-Danlos Syndrome, Classic-Like, 2	Aortic root aneurysm, Bruising susceptibility, Redundant skin, Mitral valve prolapse, Carotid art...	OMIM:618000
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:619607
Mosaic Trisomy 9	Abnormal heart valve morphology, Endocardial fibroelastosis, Oligohydramnios, Ventricular septal ...	ORPHA:99776
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Hypertrophic cardiomyopathy, Protruding tongue, Cryptorchidism, Ventricular septal d...	OMIM:612938
Hemoglobin D Disease	Pallor	ORPHA:90039
Cardiospondylocarpofacial Syndrome	Mitral regurgitation, Mitral valve prolapse	ORPHA:3238
Central Core Disease	Mitral valve prolapse	ORPHA:597
Williams Syndrome	Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Myop...	ORPHA:904
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Abnormal bleeding, Hepatosplenomegaly,...	ORPHA:824
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Cryptorchidism, Ventricular septal defect, Camptodactyly, Asplenia...	OMIM:619123
Von Hippel-Lindau Disease	Macular edema, Cardiomyopathy, Palpitations, Pallor, Stroke, Arrhythmia, Myocarditis, Abnormal le...	ORPHA:892
Cardiofaciocutaneous Syndrome 2	Mitral valve prolapse	OMIM:615278
Spinal Arteriovenous Metameric Syndrome	Spinal arteriovenous malformation, Arteriovenous malformation, Congestive heart failure	ORPHA:53721
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Ritscher-Schinzel Syndrome 2	Pulmonary artery hypoplasia, Camptodactyly of finger, Intestinal malrotation, Cryptorchidism, Pro...	OMIM:300963
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Decreased testicular size, Congenital diaphragmatic hernia, P...	OMIM:157800
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Nephrotic Syndrome, Type 11	High palate, Dilated cardiomyopathy, Cleft palate, Ventricular septal defect	OMIM:616730
Holt-Oram Syndrome	Cleft soft palate, Hypoplasia of deltoid muscle, Mitral valve prolapse, Ventricular septal defect...	OMIM:142900
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Aganglion...	ORPHA:2473
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Ascites, Mitral regurgitation, Mitral valve prolapse, Pericarditis	ORPHA:2848
Acrocardiofacial Syndrome	Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular septal defect, Coarctation ...	ORPHA:2008
Fabry Disease	Atrioventricular block, Lymphedema, Hypertrophic cardiomyopathy, Bundle branch block, Transient i...	ORPHA:324
Diamond-Blackfan Anemia 1	Congestive heart failure, Elevated red cell adenosine deaminase activity, Pallor, Ventricular sep...	OMIM:105650
Orofaciodigital Syndrome V	Bifid uvula, Tetralogy of Fallot, Ankyloglossia, Hamartoma of tongue, Ventricular septal defect, ...	OMIM:174300
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Patent ductus arteriosus, Cryptorchidism, Ventricular septal defect	OMIM:218350
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Stroke, Congestive heart failure	ORPHA:3077
Beta-Thalassemia Major	Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Hepatosplenomegaly, Pallor, High-output con...	ORPHA:231214
Ehlers-Danlos Syndrome, Classic-Like, 1	Striae distensae, Bruising susceptibility, Quadricuspid aortic valve, Mitral valve prolapse	OMIM:606408
Ogden Syndrome	Cardiogenic shock, Ventricular septal defect, Pulmonary artery stenosis, Arrhythmia, Cutis laxa	ORPHA:276432
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Patent ductus arteriosus, Cryptorchidism, Ventricular septal defect	ORPHA:452
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticul...	OMIM:115470
Atransferrinemia	Abnormality of the liver, Congestive heart failure	OMIM:209300
Breath-Holding Spells	Pallor	OMIM:607578
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Dextrocardia	OMIM:606763
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Pallor, Congestive heart failure	ORPHA:90037
Carney Complex, Type 1	Cardiac myxoma, Congestive heart failure	OMIM:160980
Beaulieu-Boycott-Innes Syndrome	Velopharyngeal insufficiency, Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Abnormal heart morphology, Radial artery aplasia,...	ORPHA:124
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Abnormal heart valve morphology, Hepatosplenomegaly, Hepatomegaly, Decr...	OMIM:309900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Ventricular septal defe...	ORPHA:369929
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra...	ORPHA:2255
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent...	ORPHA:26793
Stickler Syndrome Type 1	Mitral valve prolapse	ORPHA:90653
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Situs inversus totalis, U...	OMIM:613686
Burn-Mckeown Syndrome	Bifid uvula, Ventricular septal defect, Atrial septal defect, Hypomimic face, Cleft palate	OMIM:608572
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat...	ORPHA:329224
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Abnormal heart morphology, Polyhydramnios, Ventricular septal defect	ORPHA:254534
Sifrim-Hitz-Weiss Syndrome	Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defe...	OMIM:617159
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect	ORPHA:75389
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Ventricular septal defect	OMIM:618504
22Q11.2 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Anal atresia...	ORPHA:567
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:276621
Immunodeficiency 9	Lymphopenia, Hypoplasia of the thymus, Myopathy, Abnormal natural killer cell count	OMIM:612782
Noonan Syndrome 13	Bruising susceptibility, Lymphedema, Dry skin, Mitral regurgitation, Mitral valve prolapse, Atria...	OMIM:619087
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Skin ulcer, Pallor, H...	ORPHA:507
Dental Anomalies And Short Stature	Mitral valve prolapse	OMIM:601216
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Vascular dilatation, Ventricular septal defect	OMIM:219730
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Cleft palate, Ventricular septal defect	OMIM:619895
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus, Atrial septal defect	OMIM:241310
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Dehydration, H...	ORPHA:31824
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Ventricular septal defect	OMIM:602501
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Hepatic fibrosis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase...	OMIM:615895
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Hepatitis, Medial calcification of large arteries, Dilatation of the cerebral artery, Congestive ...	ORPHA:391487
Trisomy X	Precocious puberty, Atrial septal defect, Ventricular septal defect	ORPHA:3375
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect	OMIM:617516
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect	OMIM:620511
Braddock-Carey Syndrome 1	Anteriorly placed anus, Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia, Campt...	OMIM:619980
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Mitra...	OMIM:619472
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Contractu...	OMIM:617201
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect	OMIM:617751
Fragile X Syndrome	Mitral valve prolapse	OMIM:300624
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Decreased methionine synthase activity, Atrial septal defect, Dextrocardia, Hepatomegaly, Patent ...	OMIM:277380
Acquired Idiopathic Sideroblastic Anemia	Hepatomegaly, Abnormal bleeding, Pallor, Congestive heart failure	ORPHA:75564
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Polyhydramnios, Ventricular septal defect	ORPHA:2256
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ...	OMIM:258900
Esophageal Atresia	Tetralogy of Fallot, Pallor, Ventricular septal defect, Coarctation of aorta, Polyhydramnios	ORPHA:1199
Werner Syndrome	Abnormal cerebral vascular morphology, Skin ulcer, Congestive heart failure, Atherosclerosis, Lac...	ORPHA:902
Roifman Syndrome	Splenomegaly, Hip contracture, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophi...	OMIM:616651
Mucolipidosis Type Iii Alpha/Beta	Aortic regurgitation, Mitral regurgitation, Right ventricular hypertrophy, Congestive heart failure	ORPHA:423461
Alg3-Cdg	Abnormal circulating enzyme concentration or activity, Decreased liver function, Cardiomyopathy, ...	ORPHA:79321
Congenital Contractural Arachnodactyly	Aortic aneurysm, Mitral valve prolapse	ORPHA:115
Kapur-Toriello Syndrome	Tetralogy of Fallot, Intestinal malrotation, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2328
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Premature s...	ORPHA:90348
Loeys-Dietz Syndrome 2	Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr...	OMIM:610168
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Transposition of the great arteries, Cryptorchidism, Patent foramen ovale	OMIM:616789
Beta-Thalassemia Intermedia	Cholelithiasis, Skin ulcer, Decreased liver function, Hepatosplenomegaly, Abnormality of the live...	ORPHA:231222
Meckel Syndrome, Type 4	Cleft palate, Atrial septal defect, Bile duct proliferation, Ventricular septal defect	OMIM:611134
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ...	OMIM:603554
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, High, narrow palate, Tetralogy of Fallot, Atrioven...	ORPHA:7
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V...	OMIM:618619
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Ciliary Dyskinesia, Primary, 22	Situs inversus totalis, Dextrocardia	OMIM:615444
Microphthalmia, Syndromic 2	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent...	OMIM:300166
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Hypoplastic left heart, Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:2001
Marfan Syndrome	Aortic regurgitation, Mitral annular calcification, Aortic root aneurysm, Aortic dissection, Pulm...	OMIM:154700
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Stillbirth, Abnormal cardiac septum morphology, Single ventricle	OMIM:308050
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Cleft palate, Ventricular septal defect	ORPHA:261190
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	High palate, Patent ductus arteriosus, Cleft palate, Ventricular septal defect	ORPHA:52055
Parkes Weber Syndrome	Arteriovenous malformation, Abnormal bleeding, Vascular tortuosity, Skin ulcer, Venous malformati...	ORPHA:90307
Seckel Syndrome 9	Polyhydramnios, Pulmonary artery hypoplasia, Atrial septal defect, Ventricular septal defect	OMIM:616777
Thoracoabdominal Syndrome	Transposition of the great arteries, Patent ductus arteriosus, Ectopia cordis	OMIM:313850
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis, Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonary art...	OMIM:611812
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Lymphedema, Pancreatic lymphangiectasis, Ascites, Redundant neck skin, Ventricul...	OMIM:235255
Emanuel Syndrome	Aortic valve stenosis, Oligohydramnios, Truncus arteriosus, Ventricular septal defect, Atrial sep...	OMIM:609029
Ehlers-Danlos Syndrome, Classic Type, 1	Aortic root aneurysm, Bruising susceptibility, Mitral valve prolapse	OMIM:130000
Coffin-Siris Syndrome 7	Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Polyhydr...	OMIM:618027
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Patent foram...	OMIM:618748
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Jaundice, Pallor	OMIM:615631
Gaucher Disease, Type Iiic	Aortic valve calcification, Calcification of the aorta, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Shoulder flexion contracture, Tetralogy of Fallot, Muscular ventricular septal defect, Elbow flex...	OMIM:210710
Neonatal Marfan Syndrome	Abnormal cardiac ventricle morphology, Aortic root aneurysm, Tricuspid regurgitation, Mitral regu...	ORPHA:284979
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Jaundice, Pallor, Congestive heart failure	ORPHA:90033
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi...	OMIM:617506
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Facial telangiectasia, Mitral valve prolapse, Ventricular septal defect, Card...	OMIM:602782
Intellectual Developmental Disorder, Autosomal Dominant 47	Increased nuchal translucency, Ventricular septal defect	OMIM:617635
Filippi Syndrome	Cryptorchidism, Ventricular septal defect	OMIM:272440
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Mitral valve prolapse, Reduced cystathionine beta-synthase activity in culture...	OMIM:236200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Pancreatic hypoplasia, Contracture of the distal interphalangeal joint of the fin...	ORPHA:83617
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Ventricular septal...	ORPHA:1425
Sepsis In Premature Infants	Hypotension, Abnormal bleeding, Decreased liver function, Pallor, Petechiae, Jaundice, Bradycardi...	ORPHA:90051
Oculofaciocardiodental Syndrome	Peripheral pulmonary artery stenosis, Patent ductus arteriosus, Abnormal cardiac septum morpholog...	ORPHA:2712
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho...	OMIM:208540
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Abnormal cardiac septum morphology, Dextrocardia, Ventricular septal defect	OMIM:614294
Fanconi Anemia, Complementation Group B	Aplastic anemia, Duodenal atresia, Hypogonadism, Ventricular septal defect, Coarctation of aorta,...	OMIM:300514
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Right ventricular hypertro...	OMIM:614261
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Polyhydramnios, Ventricular septal defect	OMIM:616920
Aminopterin/Methotrexate Embryofetopathy	Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect	ORPHA:1908
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect	OMIM:617450
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Sinus tachycardia, Congestive heart fail...	ORPHA:525731
Erdheim-Chester Disease	Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Joint swelling, Abno...	ORPHA:35687
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration, Pallor	OMIM:613839
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Cardiomegaly, ...	OMIM:616897
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Pallor, Cholecystitis, Nonimmune hydrops ...	OMIM:266200
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Schimke Immuno-Osseous Dysplasia	Atherosclerosis, Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral i...	ORPHA:1830
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telan...	ORPHA:774
X Small Rings	Aortic root aneurysm, Oligohydramnios, Mitral stenosis, Ventricular septal defect, Bicuspid aorti...	ORPHA:96201
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
3P25.3 Microdeletion Syndrome	Coronary artery atherosclerosis, Ventricular septal defect, Atrial septal defect, Patent ductus a...	ORPHA:435638
Chromosome 6Pter-P24 Deletion Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial sept...	OMIM:612582
Proximal 16P11.2 Microdeletion Syndrome	Abnormal heart morphology, Abnormal aortic valve morphology, Atrial septal defect, Dextrocardia	ORPHA:261197
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Coarctation...	ORPHA:96147
Noonan Syndrome 14	Aortic regurgitation, Bruising susceptibility, Hypertrophic cardiomyopathy, Dry skin, Mitral valv...	OMIM:619745
Donnai-Barrow Syndrome	Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular septal defect	ORPHA:2143
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Pallor, Elevated circulating alkaline ph...	ORPHA:263455
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia, Dehydration	ORPHA:2131
Noonan Syndrome 4	Abnormal bleeding, Bruising susceptibility, Hypertrophic cardiomyopathy, Ventricular septal defec...	OMIM:610733
Mucopolysaccharidosis Type 1	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Abnormal aortic valve morphology, C...	ORPHA:579
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Arthrogryposis-like hand anomaly, Abnormal heart morphology, Cryptorchidism, Patent foramen ovale...	ORPHA:369891
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Mitral regurgitation, Atrial septal defect, Ventricular septal defect	OMIM:615879
Emanuel Syndrome	Aortic valve stenosis, Oligohydramnios, Redundant neck skin, Truncus arteriosus, Ventricular sept...	ORPHA:96170
Johanson-Blizzard Syndrome	Abnormal cardiac septum morphology, Dextrocardia, Edema	ORPHA:2315
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Autosomal Dominant Polycystic Kidney Disease	Aortic root aneurysm, Dilatation of the cerebral artery, Hepatic cysts, Mitral valve prolapse, Ab...	ORPHA:730
Geleophysic Dysplasia 1	Aortic valve stenosis, Congestive heart failure, Mitral stenosis, Lack of skin elasticity, Pulmon...	OMIM:231050
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Dahlberg-Borer-Newcomer Syndrome	Mitral valve prolapse, Lymphedema	ORPHA:1563
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension, Aortic root aneurysm, Mitral valve prolapse	ORPHA:449291
Osteogenesis Imperfecta, Type I	Aortic aneurysm, Bruising susceptibility, Mitral valve prolapse	OMIM:166200
Beck-Fahrner Syndrome	Cardiomegaly, High palate, Facial hypotonia, Ventricular septal defect	OMIM:618798
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Ventricular septal defect, Hepatomegaly	OMIM:615630
Senior-Loken Syndrome 8	Hepatic cysts, Intrahepatic bile duct dilatation, Pallor, Vascular dilatation	OMIM:616307
Thakker-Donnai Syndrome	Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Tracheoesophagea...	ORPHA:1780
Wrinkly Skin Syndrome	Hypoplasia of the musculature, Muscular ventricular septal defect, Cryptorchidism, Scapular wingi...	OMIM:278250
Brittle Cornea Syndrome 1	Palmoplantar cutis laxa, Mitral valve prolapse	OMIM:229200
Diamond-Blackfan Anemia 10	Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Macrocytic anemia, Ventricular se...	OMIM:613309
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Suleiman-El-Hattab Syndrome	Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, High palate	OMIM:618950
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Elevated circulating hepatic transaminase concentration, Pallor, Melena, Oral ...	ORPHA:98870
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:29072
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Mitral valve prolapse	ORPHA:98
Trisomy 13	Patent ductus arteriosus, Hydrops fetalis, Atrial septal defect, Ventricular septal defect	ORPHA:3378
Martsolf Syndrome 1	Cardiac arrest, Cardiomyopathy, Congestive heart failure	OMIM:212720
Congenital Heart Defects And Skeletal Malformations Syndrome	Aortic root aneurysm, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Ve...	OMIM:617602
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Reduced HMG-CoA lyase activity in cultured fibroblasts, Elevated circulating aspartate aminotrans...	OMIM:246450
Meester-Loeys Syndrome	Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Bruising susceptibility, Dila...	OMIM:300989
Recombinant 8 Syndrome	Tetralogy of Fallot, Redundant skin, Ventricular septal defect, Pulmonary artery stenosis, Atrial...	ORPHA:96167
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Dry skin, Tricuspid regurgitation, Congestive heart failure	ORPHA:508542
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Ventricular septal defect	ORPHA:96097
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Polycystic ovaries, Cleft palate, Ventricular septal defect	ORPHA:1770
Kapur-Toriello Syndrome	Joint contracture of the hand, Camptodactyly of finger, Intestinal malrotation, Cryptorchidism, V...	OMIM:244300
Trisomy 1Q	Increased nuchal translucency, Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Patent...	ORPHA:261344
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Patent ...	ORPHA:77298
Frank-Ter Haar Syndrome	Mitral valve prolapse	ORPHA:137834
Brachydactyly, Type B1	Camptodactyly, Joint contracture of the hand, Ventricular septal defect	OMIM:113000
Alstrom Syndrome	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart...	OMIM:203800
Galloway-Mowat Syndrome 7	High palate, Dilated cardiomyopathy, Cleft palate, Ventricular septal defect	OMIM:618348
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:145420
Kcnq2-Related Epileptic Encephalopathy	Cerebral edema, Facial erythema, Pallor	ORPHA:439218
Mgat2-Cdg	Abnormal bleeding, Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Reduced leve...	ORPHA:79329
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Cooper-Jabs Syndrome	Anteriorly placed anus, Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular sep...	ORPHA:1488
Bardet-Biedl Syndrome 17	Situs inversus totalis, Dextrocardia	OMIM:615994
Geleophysic Dysplasia 2	Aortic valve stenosis, Mitral stenosis, Mitral valve prolapse, Mitral regurgitation, Pulmonary ar...	OMIM:614185
Marfanoid-Progeroid-Lipodystrophy Syndrome	Aortic root aneurysm, Bruising susceptibility, Oligohydramnios, Mitral valve prolapse, Hypertension	OMIM:616914
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Beta-Ketothiolase Deficiency	Hypotension, Edema, Pallor, Hepatomegaly, Hypertension, Dehydration	ORPHA:134
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Pulmonary artery atresia, Paten...	OMIM:620113
Autosomal Recessive Malignant Osteopetrosis	Bruising susceptibility, Abnormal pulmonary valve morphology, Pallor, Pulmonary artery stenosis, ...	ORPHA:667
Fg Syndrome Type 1	Facial wrinkling, Mitral valve prolapse, Coarctation of aorta, Pulmonary arterial hypertension, A...	ORPHA:93932
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat...	OMIM:613795
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Intestinal malrotation, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Patent d...	ORPHA:457193
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Acute hepatic failure, Supraventricular tachycardia, H...	ORPHA:423
Dravet Syndrome	Pallor	ORPHA:33069
8P Inverted Duplication/Deletion Syndrome	Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, Tetralogy of Fallot, Dextrocardia	ORPHA:96092
Treacher-Collins Syndrome	Cryptorchidism, Glossoptosis, Hypoplasia of the thymus, Abnormality of the adrenal glands, Trache...	ORPHA:861
Fryns Syndrome	Abnormal aortic arch morphology, Tetralogy of Fallot, Abnormal aortic morphology, Abnormal cardia...	ORPHA:2059
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bifid uvula, Bilateral cryptorchidism, Ventricular septal defect, High palate, Patent ductus arte...	OMIM:300472
Leigh Syndrome	Hepatic failure, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal circulating enzy...	ORPHA:506
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas...	OMIM:610655
Alagille Syndrome	Peripheral pulmonary artery stenosis, Cholestasis, Reduced number of intrahepatic bile ducts, Ven...	ORPHA:52
Carpenter Syndrome 1	Precocious puberty, Joint contracture of the hand, Polysplenia, Tetralogy of Fallot, Cryptorchidi...	OMIM:201000
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Hepatic calcification, Pericar...	ORPHA:73224
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th...	ORPHA:449400
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Cryptorchidism, Ventricular septal defect, Atrial septal defect, High palate, Flexion contracture	OMIM:617452
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Xerostomia, Skin ulcer, Congestive heart failure, Telangiectasia of the skin...	ORPHA:220393
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:220500
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert...	OMIM:171300
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Cholestasis, Pleural effusion, Mitral valve prolapse, Pulmonary arterial...	OMIM:620233
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Aarskog-Scott Syndrome	Congestive heart failure	ORPHA:915
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Supernumerary nipple, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect,...	ORPHA:457279
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Ventricula...	OMIM:620025
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Heart murmur, Abnormal vena cava morphology, Ventricular septal defect	ORPHA:166035
Isolated Anencephaly	Maternal diabetes, Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia	ORPHA:563609
Distal Triplication 15Q	Abnormal heart morphology, Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus	ORPHA:314588
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Erythema, Dry skin, Left ventricular hypertrophy, Atrial septal defect, Cerebral edema, Left-to-r...	OMIM:620510
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Redundant neck skin, V...	ORPHA:1655
Tay-Sachs Disease	Pallor, Cherry red spot of the macula	OMIM:272800
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:100300
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Aortic root aneurysm, Congestive heart failure, Abnormal heart morphology, Patent foramen ovale, ...	ORPHA:444077
Fanconi Anemia, Complementation Group E	Abnormal heart morphology, Anemic pallor, Bruising susceptibility	OMIM:600901
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Atrial septal defect, Mitral stenosis	OMIM:617660
Classical-Like Ehlers-Danlos Syndrome Type 2	Aortic root aneurysm, Bruising susceptibility, Prominent veins on trunk, Redundant skin, Mitral v...	ORPHA:536532
Degcags Syndrome	Cholestasis, Hepatosplenomegaly, Pallor, Patent foramen ovale, Ventricular septal defect, Persist...	OMIM:619488
Osteogenesis Imperfecta, Type Ii	Pulmonary insufficiency, Congestive heart failure, Nonimmune hydrops fetalis	OMIM:166210
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi...	OMIM:614114
Refractory Anemia With Excess Blasts	Abnormal bleeding, Palpitations, Anemic pallor, Retinal hemorrhage, Pedal edema	ORPHA:86839
Congenital Tracheal Stenosis	Hypoplastic left heart, Fetal ascites, Anomalous origin of left pulmonary artery from ascending a...	ORPHA:141127
De Barsy Syndrome	Prominent veins on trunk, Excessive wrinkled skin, Ventricular septal defect, Persistent left sup...	ORPHA:2962
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Abnormal heart morphology, Intestinal malrotation, Cryptorchidism, Ventricular septa...	ORPHA:404440
Wiskott-Aldrich Syndrome	Vasculitis, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, ...	ORPHA:906
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Gastrointestinal angiodysplasia, High-output congestive heart failure, Nasa...	OMIM:187300
Loeys-Dietz Syndrome 5	Bifid uvula, Aortic root aneurysm, Decreased muscle mass, Cleft soft palate, High palate, Patent ...	OMIM:615582
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Abnormal cerebral vascular morphology, Skin ul...	ORPHA:79474
Short Stature-Micrognathia Syndrome	Cryptorchidism, Ventricular septal defect, High palate, Cleft palate, Skeletal muscle hypertrophy	OMIM:617164
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Atrial septal defect, Mitral valve prolapse	OMIM:300986
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Pallor	OMIM:605549
Fructose-1,6-Bisphosphatase Deficiency	Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio...	ORPHA:348
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atrial septal defect, Ventricu...	OMIM:613001
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor	ORPHA:90036
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cardiomyopathy, Mitral regurgitation, Mitral valve prolapse	OMIM:258450
Fanconi Anemia, Complementation Group A	Abnormal heart morphology, Anemic pallor, Bruising susceptibility	OMIM:227650
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Ventricular septal defect, Macroorchidism, Atrial septal defect, High palate, Flexion contracture...	OMIM:309520
Leopard Syndrome 1	Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a...	OMIM:151100
Infection-Related Hemolytic Uremic Syndrome	Generalized edema, Hypertensive crisis, Pallor, Myocarditis, Pleural empyema, Hypertension, Edema	ORPHA:544482
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Limb joint contracture, High palate	ORPHA:505237
Avian Influenza	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:454836
Hamamy Syndrome	Mitral regurgitation, Prolonged QRS complex, Complete atrioventricular canal defect, Atrial septa...	OMIM:611174
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:617061
Mosaic Trisomy 16	Abnormal heart morphology, Ventricular septal defect, Single coronary artery origin, Coarctation ...	ORPHA:1708
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Aortic root aneurysm, Dry skin, Increased nuchal translucency, Ventricul...	OMIM:620654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno...	OMIM:253800
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation, Hepatic steatosis, Ventricular septal defect, Arrhyth...	ORPHA:254346
Ververi-Brady Syndrome	High palate, Transposition of the great arteries	OMIM:617982
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ...	OMIM:620024
8P11.2 Deletion Syndrome	Patent ductus arteriosus, Atrial septal defect, Mitral valve prolapse	ORPHA:251066
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Redundant skin, Neonatal death, Palmoplantar cutis laxa, Pulmonary arte...	OMIM:616482
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Pallor	OMIM:611590
Kury-Isidor Syndrome	High palate, Ventricular septal defect	OMIM:619762
Listeriosis	Arteritis, Liver abscess, Congestive heart failure, Cholecystitis, Stroke, Hepatic granulomatosis...	ORPHA:533
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Con...	ORPHA:14
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Congestive heart failure, Hepatic steatosis, Prolonged prothrombin time, Polyh...	OMIM:616271
3Q29 Microduplication Syndrome	Ventricular septal defect, Camptodactyly of toe, Ectopic anus, High palate, Cleft palate	ORPHA:251038
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Ventricular septal defect, Cirrhosis, Atria...	OMIM:301068
19P13.3 Microduplication Syndrome	Precocious puberty, Unilateral cryptorchidism, Cleft palate, Ventricular septal defect	ORPHA:447980
Myopathy With Extrapyramidal Signs	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular septal defect	OMIM:615673
Koolen-De Vries Syndrome	Aortic root aneurysm, Dry skin, Ventricular septal defect, Bicuspid aortic valve, Atrial septal d...	OMIM:610443
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Periorbital edema, Intestinal lymphangiectasia, Lymphedema, Pleural effusion, Ventricular septal ...	OMIM:235510
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Aortic root aneurysm, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic ...	OMIM:245600
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Increased iduronate ...	OMIM:252500
Graves Disease	Congestive heart failure	OMIM:275000
Cerebellar-Facial-Dental Syndrome	Ascending tubular aorta aneurysm, Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect	ORPHA:444072
Down Syndrome	Narrow palate, Secundum atrial septal defect, Polycythemia, Celiac disease, Tetralogy of Fallot, ...	ORPHA:870
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Ventricular arrhythmia, Palpitations, Pallor, Supraventric...	ORPHA:91347
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Tetralogy of Fallot, Absent gallbladder, Complete atrioventricular canal defect, Neonatal death	OMIM:617925
Pontocerebellar Hypoplasia, Type 8	Patent foramen ovale, Ventricular septal defect	OMIM:614961
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Hepatic failure, E...	ORPHA:100078
Fanconi Anemia, Complementation Group C	Anemic pallor, Bruising susceptibility, Ventricular septal defect	OMIM:227645
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Decreased liver function, Congestive heart failure, Hepatosplenomega...	ORPHA:85450
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Left ventricular hypertrophy, A...	OMIM:242840
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Congestive heart failur...	OMIM:617156
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cryptorchidism, Submucous cleft hard palate, Ventricular septal defect, Dysplastic pulmonary valv...	OMIM:619103
C Syndrome	Hepatomegaly, Cutis laxa, Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Distal Deletion 19P	Tricuspid valve prolapse, Pulmonary valve atresia, Cleft palate, Ventricular septal defect	ORPHA:96129
Tetrasomy 5P	Heart murmur, Pulmonary arterial hypertension, Redundant neck skin, Congestive heart failure	ORPHA:3309
Insulin-Like Growth Factor I, Resistance To	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, High palate, Diabetes mell...	OMIM:270450
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Abnormal heart morphology, Atrioventricular canal defect, Oligohydra...	ORPHA:508488
Ellis Van Creveld Syndrome	Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus totalis, Ventricul...	ORPHA:289
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Mitral valve prolapse	OMIM:104350
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect	OMIM:614424
Kleefstra Syndrome	Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Pulm...	ORPHA:261494
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Patent ductus arteriosus,...	OMIM:277600
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm...	OMIM:610978
Alzahrani-Kuwahara Syndrome	Coronary sinus enlargement, Dry skin, Patent foramen ovale, Ventricular septal defect, Pulmonary ...	OMIM:619268
Meier-Gorlin Syndrome 7	Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ...	OMIM:617063
Loeys-Dietz Syndrome 1	Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor...	OMIM:609192
Fanconi Anemia, Complementation Group D2	Abnormal heart morphology, Anemic pallor, Bruising susceptibility, Patent ductus arteriosus	OMIM:227646
Spondylo-Ocular Syndrome	Facial hypotonia, Ventricular septal defect	ORPHA:85194
Lateral Meningocele Syndrome	Decreased muscle mass, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Aortic a...	OMIM:130720
Coffin-Siris Syndrome 4	Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:614609
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Oligohydramnios, Patent...	OMIM:617402
Chops Syndrome	High, narrow palate, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Splenomegal...	OMIM:616368
Codas Syndrome	Extrahepatic biliary duct atresia, Ventricular septal defect	ORPHA:1458
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Pleural ...	ORPHA:453499
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Hepatic failure, Dilated cardiomyopathy, Anasarca, Thir...	OMIM:619573
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Dilation of Virchow-Robin spaces, Ventricular septal defect, Pulmonary artery stenosis, Atrial se...	OMIM:300998
Axenfeld-Rieger Syndrome, Type 3	Patent ductus arteriosus, Atrial septal defect	OMIM:602482
Cold Agglutinin Disease	Hepatomegaly, Pallor	ORPHA:56425
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormal heart morphology, Dilatation of the ventricular cavity, Aortic regurgitation, Mitral val...	ORPHA:85438
Mandibulofacial Dysostosis, Guion-Almeida Type	Esophageal atresia, Atrial septal defect, Cleft palate, Ventricular septal defect	OMIM:610536
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Atherosclerosis, Abnormal heart valve morpholo...	ORPHA:56
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Pleural effusion, Ca...	OMIM:182250
Chromosome 1Q41-Q42 Deletion Syndrome	Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect,...	OMIM:612530
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect	ORPHA:79243
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Dry skin, Supraventricular tachycardia, Cardiac myxoma, Palpebral edema...	OMIM:181270
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor	OMIM:600462
Marden-Walker Syndrome	Dextrocardia	OMIM:248700
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect	ORPHA:476126
Rere-Related Neurodevelopmental Syndrome	Abnormal heart morphology, Ventricular septal defect	ORPHA:494344
Kyphoscoliotic Ehlers-Danlos Syndrome	Subdural hemorrhage, Bruising susceptibility, Arterial rupture, Bicuspid aortic valve, Aortic ane...	ORPHA:536545
Thauvin-Robinet-Faivre Syndrome	Varicose veins, Pedal edema, Mitral valve prolapse, Ventricular septal defect	OMIM:617107
Feingold Syndrome 1	Interrupted aortic arch, Accessory spleen, Annular pancreas, Polysplenia, Duodenal atresia, Ventr...	OMIM:164280
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Paternal Uniparental Disomy Of Chromosome 6	Oligohydramnios, Ventricular septal defect, Cardiomegaly, Hepatomegaly, Patent ductus arteriosus,...	ORPHA:96191
Filippi Syndrome	Supernumerary nipple, Cryptorchidism, Ventricular septal defect	ORPHA:3255
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho...	OMIM:208900
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bifid uvula, Camptodactyly of finger, Atrioventricular canal defect, Cryptorchidism, Submucous cl...	ORPHA:3047
Mosaic Trisomy 1	Increased nuchal translucency, Ventricular septal defect, Hepatic agenesis, Coarctation of aorta,...	ORPHA:1692
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Polyhydramnios, Atrial septal defect, Redundant neck skin, Ventricular septal defect	OMIM:617360
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Pallor, Elevated hepatic iron concentration	OMIM:615234
Classical Ehlers-Danlos Syndrome	Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Dilatation of the cerebral ar...	ORPHA:287
Short-Rib Thoracic Dysplasia 12	Periportal fibrosis, Ascites, Patent foramen ovale, Ventricular septal defect, Neonatal death, He...	OMIM:269860
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatic fibrosis, Hepatic failure, Tetralogy of Fallot, Cholestasis, Ventri...	OMIM:222470
Knobloch Syndrome	Patent ductus arteriosus, Dextrocardia	ORPHA:1571
Cohen Syndrome	Mitral valve prolapse	OMIM:216550
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema, Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension	OMIM:614653
Trisomy 8P	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Abnormal left ventricle morphology, He...	ORPHA:264450
Opitz Gbbb Syndrome	Aortic root aneurysm, Abnormal heart morphology, Ankyloglossia, Congenital diaphragmatic hernia, ...	ORPHA:2745
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Neurooculorenal Syndrome	Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve prolapse, Dextroc...	OMIM:620305
Mycophenolate Mofetil Embryopathy	Coarctation of aorta, Hydrops fetalis, Ventricular septal defect	ORPHA:268249
Czeizel-Losonci Syndrome	Dextrocardia	ORPHA:2437
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Congestive heart failure	ORPHA:2505
Basel-Vanagaite-Smirin-Yosef Syndrome	Furrowed tongue, Ventricular septal defect, Atrial septal defect, High palate, Cleft palate	OMIM:616449
Renal Agenesis	Oligohydramnios, Hypertension, Ventricular septal defect	ORPHA:411709
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Absent gallbladder, Ventricular septal defect, Atrial septal defect, Hea...	ORPHA:163979
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Pulmonary edema, Prolonged QT interval, Atrial fibr...	ORPHA:31826
Restrictive Dermopathy	Transposition of the great arteries, Atrial septal defect, Dextrocardia, Scaling skin, Polyhydram...	ORPHA:1662
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Ventricu...	OMIM:178110
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Anemic pallor, Abnormal bleeding, Edema	ORPHA:329971
Phace Syndrome	Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo...	ORPHA:42775
Hunter-Macdonald Syndrome	Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicuspid aortic valve, Hyperte...	OMIM:611962
Craniofacioskeletal Syndrome	Interrupted aortic arch, Absent gallbladder, Ventricular septal defect, Atrial septal defect, Pat...	OMIM:300712
Brachytelephalangic Chondrodysplasia Punctata	Abnormal circulating enzyme concentration or activity, Ventricular septal defect, Pulmonary arter...	ORPHA:79345
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase activity,...	OMIM:277400
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect	ORPHA:3078
Joubert Syndrome With Ocular Defect	Dextrocardia	ORPHA:220493
ERI1-related disease	Abnormal heart morphology, Tricuspid regurgitation, Pulmonary arterial hypertension, Ventricular ...	OMIM:608739
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,...	OMIM:610759
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Elevated circulating hepatic transaminase concentration, Congestive heart f...	OMIM:619475
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Interrupted aortic arch, Abnormal aortic morphology, Tricuspid valve prola...	ORPHA:2396
19Q13.11 Microdeletion Syndrome	Dry skin, Ventricular septal defect	ORPHA:217346
Alagille Syndrome 1	Peripheral pulmonary artery stenosis, Hepatic failure, Elevated circulating hepatic transaminase ...	OMIM:118450
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Elevated gamma-glutamyltransferase level, Increased circulating lactate deh...	OMIM:614866
Myelofibrosis	Hepatomegaly, Purpura, Pallor	OMIM:254450
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Patent ductus arteriosus, Cephalohematoma, Atrial septal defect, Ventricular septal defect	OMIM:620558
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic root aneurysm, Bruising susceptibility, Oligohydramnios, Mitral valve prolapse, Stroke, Th...	ORPHA:536467
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hypotension, Elevated total serum tryptase, Pallor, Syncope, Hepatomegaly, Tachycardia	ORPHA:98849
Eec Syndrome	Xerostomia, Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Ante...	ORPHA:1896
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Pancreatic insufficiency, combined exocrine	Anasarca, Congestive heart failure	OMIM:260450
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Radio-Tartaglia Syndrome	Dry skin, Striae distensae, Ventricular septal defect	OMIM:619312
Pearson Marrow-Pancreas Syndrome	Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Pallor, Macro...	OMIM:557000
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Pulmonary artery atresi...	OMIM:616894
Friedreich Ataxia 2	Decreased pyruvate carboxylase activity, Muscular subvalvular aortic stenosis, Congestive heart f...	OMIM:601992
Hyperkalemic Periodic Paralysis	Arrhythmia, Congestive heart failure	ORPHA:682
Combined Oxidative Phosphorylation Deficiency 15	Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson...	OMIM:614947
Noonan Syndrome 1	Chylothorax, Abnormal bleeding, Bruising susceptibility, Lymphedema, Hypertrophic cardiomyopathy,...	OMIM:163950
Spondyloocular Syndrome	Lymphedema, Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve	OMIM:605822
Triosephosphate Isomerase Deficiency	Cholelithiasis, Congestive heart failure, Oligohydramnios, Cholecystitis, Prolonged neonatal jaun...	OMIM:615512
Generalized Pustular Psoriasis	Elevated circulating hepatic transaminase concentration, Pedal edema, Congestive heart failure	ORPHA:247353
Fraser Syndrome 2	Intestinal malrotation, Hypoplasia of the thymus, Anal atresia, Rectal atresia	OMIM:617666
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Pallor, Hepatomegaly, Jaundice	OMIM:194380
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Bruising susceptibility, Dilatation of the cerebral artery, Arterial...	OMIM:130050
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm, Atrial sept...	ORPHA:261330
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor	ORPHA:331206
Bohring-Opitz Syndrome	Narrow palate, Supernumerary nipple, Intestinal malrotation, Ventricular septal defect, Hyperecho...	OMIM:605039
Rabson-Mendenhall Syndrome	Precocious puberty, Insulin-resistant diabetes mellitus, Cardiomyopathy, Fasting hyperinsulinemia...	ORPHA:769
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Mitral atresia, Pulmonary artery stenosis, Aortic regurgitation, Abnormal cardiac septum morphology	ORPHA:140952
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Cryptorchidism, Ventricular septal def...	ORPHA:261250
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Elevated hep...	ORPHA:300298
Arthrogryposis, Distal, Type 12	Mitral valve prolapse	OMIM:620545
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Cleft p...	ORPHA:261236
Cerebellofaciodental Syndrome	Mitral valve prolapse, Ventricular septal defect	OMIM:616202
Chime Syndrome	Erythema, Skin ulcer, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresia, Tr...	ORPHA:3474
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Pallor	OMIM:246400
Opitz Gbbb Syndrome	Rectourethral fistula, Cryptorchidism, Ventricular septal defect, Anal atresia, High palate, Clef...	OMIM:300000
Lateral Meningocele Syndrome	High, narrow palate, High palate, Cryptorchidism, Ventricular septal defect	ORPHA:2789
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Premature coronary artery atherosclerosis, Abnormal tendon morphology, Aort...	ORPHA:391665
Imerslund-Gräsbeck Syndrome	Tachycardia, Abnormal bleeding, Pallor	ORPHA:35858
Brittle Cornea Syndrome	Pulmonic stenosis, Bruising susceptibility, Mitral valve prolapse	ORPHA:90354
Chromosome 14Q11-Q22 Deletion Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Unilate...	OMIM:613457
Fanconi Anemia, Complementation Group N	Aplastic anemia, Ventricular septal defect, Acute myeloid leukemia, Atrial septal defect, Anal at...	OMIM:610832
Phelan-Mcdermid Syndrome	Lymphedema, Palpebral edema, Patent ductus arteriosus, Ventricular septal defect	OMIM:606232
Zellweger Syndrome	Primary adrenal insufficiency, Cryptorchidism, Ventricular septal defect, High palate, Pyloric st...	ORPHA:912
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Elevated circulating hepatic transaminase concentration, Hypertrophic ca...	ORPHA:17
Ulnar-Mammary Syndrome	Camptodactyly of finger, Breast aplasia, Cryptorchidism, Ventricular septal defect, Hypoplastic n...	ORPHA:3138
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Left ventricular noncompaction, Left ventricular noncompaction cardiomyopath...	OMIM:300967
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Cryptorchidism, Ventricular septal defect	OMIM:620073
Incontinentia Pigmenti	Erythema, Skin ulcer, Congestive heart failure, Cerebral ischemia, Telangiectasia of the skin, Pu...	ORPHA:464
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medial calcification of large arteries, Retinal hemorrhage, Coronary art...	ORPHA:51608
Alg9-Cdg	Periportal fibrosis, Abnormal heart morphology, Tricuspid regurgitation, Oligohydramnios, Abnorma...	ORPHA:79328
Stickler Syndrome, Type I	Mitral valve prolapse	OMIM:108300
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm...	ORPHA:209905
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect,...	ORPHA:464738
Sheehan Syndrome	Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia	ORPHA:91355
Focal Dermal Hypoplasia	Erythema, Acute hepatic failure, Ventricular septal defect, Telangiectasia of the skin, Abnormal ...	ORPHA:2092
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Polyhydramnios, Ventricular septal defect	OMIM:615503
Elliptocytosis 1	Jaundice, Pallor	OMIM:611804
Specc1L-Related Hypertelorism Syndrome	Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defect, Patent ductus a...	ORPHA:1519
Donnai-Barrow Syndrome	Intestinal malrotation, Diaphragmatic eventration, Congenital diaphragmatic hernia, Ventricular s...	OMIM:222448
Costello Syndrome	Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Redundant neck ski...	OMIM:218040
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries, Venou...	ORPHA:2969
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Carpenter Syndrome 2	Tricuspid regurgitation, Situs inversus totalis, Cutis laxa, Transposition of the great arteries,...	OMIM:614976
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Mitral valve prolapse	OMIM:618874
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Pulmonary arterial hyperte...	OMIM:618454
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Pituitary Apoplexy	Hypotension, Hypertension, Pallor	ORPHA:95613
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:250989
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Aortic regurgitation, Oligohydramnios, Ventricular septal defect, Polyhydr...	ORPHA:464311
Non-Functioning Pituitary Adenoma	Hypotension, Pallor	ORPHA:91349
Kleefstra Syndrome 1	Macroglossia, Protruding tongue, Conotruncal defect, Cryptorchidism	OMIM:610253
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Ventricular septal defect, Prolonged neonatal jaundice, Hepatomegaly, Intrah...	OMIM:214100
Aregenerative Anemia	Abnormal bleeding, Bruising susceptibility, Pallor	ORPHA:101096
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Absent gallbladder, Patent foramen ovale, Abnormal mitral v...	ORPHA:3310
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Tricuspid regurgitation, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septa...	OMIM:620663
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Elevated circulating hepatic transaminase concentration, Congestive heart failure, Card...	OMIM:256040
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Prolonged neonatal jaundice, Jaundice, Pallor	OMIM:300908
Turnpenny-Fry Syndrome	Aortic regurgitation, Carotid artery tortuosity, Mitral valve prolapse, Tricuspid valve prolapse,...	OMIM:618371
Thrombocytopenia-Absent Radius Syndrome	Prolonged bleeding following circumcision, Tetralogy of Fallot, Atrioventricular canal defect, He...	OMIM:274000
Holoprosencephaly 1	Single ventricle	OMIM:236100
Coffin-Siris Syndrome	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Hepatoblastoma, Atrial...	ORPHA:1465
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Adenohypophysitis	Pallor, Orthostatic hypotension	ORPHA:95512
Cerebrocostomandibular Syndrome	Short hard palate, Glossoptosis, Cleft palate, Ventricular septal defect	ORPHA:1393
Van Esch-O'Driscoll Syndrome	Bifid uvula, Ventricular septal defect, Pulmonary artery stenosis, Hypogonadotropic hypogonadism,...	OMIM:301030
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Cryptorchidism, Duodenal atresia, Ventricular septal defect	OMIM:617798
Legius Syndrome	Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse	ORPHA:137605
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:619575
Diets-Jongmans Syndrome	Polyhydramnios, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect	OMIM:618846
Marden-Walker Syndrome	Abnormal anatomic location of the heart, Situs inversus totalis, Dextrocardia, Ventricular septal...	ORPHA:2461
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Prominent scalp veins, Cryptorchidism, Hypoplasia of the thymus, I...	OMIM:264090
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dry skin, Ventricular septal defect	OMIM:619306
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:619525
3Mc Syndrome 1	Conjunctival telangiectasia, Patent ductus arteriosus, Atrial septal defect, Ventricular septal d...	OMIM:257920
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec...	OMIM:607721
Panhypophysitis	Pallor, Orthostatic hypotension	ORPHA:95513
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Skeletal muscle atrophy, Decreased response to growth hormone stimulation te...	ORPHA:488632
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Absent nipple, Hydrocele testis, Ankyloglossia, Congenital hypothyroidism, Patent fo...	OMIM:620186
Cohen Syndrome	Mitral valve prolapse, Ventricular septal defect	ORPHA:193
Aceruloplasminemia	Abnormal circulating enzyme concentration or activity, Elevated hepatic iron concentration, Conge...	ORPHA:48818
Pallister-Hall Syndrome	Precocious puberty, Microglossia, Anteriorly placed anus, Decreased response to growth hormone st...	OMIM:146510
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Cerebrocostomandibular Syndrome	Anal stenosis, Anteriorly placed anus, Elbow flexion contracture, Cleft soft palate, Ventricular ...	OMIM:117650
Autosomal Dominant Hypocalcemia	Hypotension, Arrhythmia, Dry skin, Congestive heart failure	ORPHA:428
Shprintzen-Goldberg Craniosynostosis Syndrome	Aortic aneurysm, Mitral valve prolapse	OMIM:182212
Kaufman Oculocerebrofacial Syndrome	Coarctation of aorta, Atrial septal defect, Ventricular septal defect	OMIM:244450
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Decreased liver function, Elevated circulating alkaline phosphatase concentration...	OMIM:618268
Intellectual Developmental Disorder, X-Linked 112	Abnormal heart morphology, Bicuspid aortic valve, Right aortic arch	OMIM:301111
Codas Syndrome	Atrioventricular canal defect, Polyhydramnios, Atrial septal defect, Ventricular septal defect	OMIM:600373
Duane-Radial Ray Syndrome	Anal stenosis, Pectoralis hypoplasia, Ventricular septal defect, Aganglionic megacolon, Vascular ...	OMIM:607323
Doors Syndrome	Narrow palate, Congenital hypothyroidism, Adrenal hyperplasia, Double outlet right ventricle, Thr...	ORPHA:79500
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Varicose veins, Abnormal right ventricle morphology, Mitral valve prolapse, Ventricular septal de...	ORPHA:500095
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Polysplenia, Splenomegaly, Weakness of facial musculature, Ventricular septal d...	OMIM:619418
Vascular Ehlers-Danlos Syndrome	Mitral valve prolapse, Excessive wrinkled skin, Pulmonary artery aneurysm, Arteriovenous fistulas...	ORPHA:286
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Tricuspid valve prolapse, Palpebral edema, Pa...	ORPHA:261337
Limb Body Wall Complex	Abnormal heart morphology, Abnormality of the liver, Ventricular septal defect, Atrial septal def...	ORPHA:2369
Myhre Syndrome	Aortic valve stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Per...	OMIM:139210
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Supernumerary nipple, Submucous cleft soft palate, Submucous cleft hard palate, Ventricular septa...	ORPHA:1071
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se...	ORPHA:466791
Hydrolethalus Syndrome 1	Polyhydramnios, Stillbirth, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:236680
Teebi-Shaltout Syndrome	Aortic valve stenosis, High, narrow palate, Ventricular septal defect, Camptodactyly, Cleft palate	OMIM:272950
Robinow Syndrome	Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta, Pulmonary valve atres...	ORPHA:97360
Prolactinoma	Hypotension, Pallor	ORPHA:2965
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Tricuspid regurgitation, Ventricular septal defect, Atrial septal defect, Hydro...	OMIM:263520
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Pallor	OMIM:301310
Den Hoed-De Boer-Voisin Syndrome	Dry skin, Oligohydramnios, Ventricular septal defect	OMIM:619229
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Supernumerary nipple, Patent ductus arteriosus, Cleft palate, Ventricular septal defect	OMIM:106260
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Bruising susceptibility, Congestive heart failure, Arterial rupture,...	OMIM:225400
Shprintzen-Goldberg Syndrome	Mitral regurgitation, Abnormal aortic valve morphology, Mitral valve prolapse	ORPHA:2462
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:352665
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Ventricular septal defect, Hyp...	OMIM:245150
Neuroblastoma	Abnormal bleeding, Increased circulating lactate dehydrogenase concentration, Anemic pallor, Hype...	ORPHA:635
Constricting Bands, Congenital	Ectopia cordis	OMIM:217100
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Osteopathia Striata With Cranial Sclerosis	Bifid uvula, Joint contracture of the hand, Anal stenosis, Intestinal malrotation, Ventricular se...	OMIM:300373
Hajdu-Cheney Syndrome	Aortic valve stenosis, Skin ulcer, Dry skin, Mitral stenosis, Ventricular septal defect, Hepatome...	ORPHA:955
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Type 2 muscle fiber predominance, Congenital contracture, Thymus hyperplasia, Type 1 muscle fiber...	OMIM:619036
Cornelia De Lange Syndrome 6	Atrioventricular canal defect, Pulmonary artery atresia, Ventricular septal defect	OMIM:620568
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Oligohydramnios, Ventricular septal defect, Patent d...	ORPHA:464306
Incontinentia Pigmenti	Retinal hemorrhage, Erythema, Pallor	OMIM:308300
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Bruising susceptibility, Tricuspid regurgitation, Mitral regurgitation, Mit...	OMIM:601776
Carney Complex	Bruising susceptibility, Congestive heart failure, Dilatation of the cerebral artery, Striae dist...	ORPHA:1359
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Coarctation of aorta, Right aortic arch	OMIM:140850
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Cryptorchidism, Ventricular septal defect, High palate, Cleft palate	ORPHA:251028
Frontometaphyseal Dysplasia 1	Cor pulmonale, Mitral valve prolapse	OMIM:305620
Trisomy 18	Narrow palate, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Ventricu...	ORPHA:3380
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Increased nuchal translucency, Renova...	ORPHA:3472
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ...	ORPHA:353281
Neu-Laxova Syndrome 1	Generalized edema, Patent foramen ovale, Ventricular septal defect, Neonatal death, Transposition...	OMIM:256520
Microphthalmia With Linear Skin Defects Syndrome	Erythema, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral re...	ORPHA:2556
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Patent d...	ORPHA:96121
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Atrioventricular canal defect, Polyhydramnios, Coarctation of aorta, Hepatomegaly, Patent ductus ...	OMIM:617088
Autosomal Recessive Robinow Syndrome	Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal tricuspid valve morphology, Ab...	ORPHA:1507
Hypermobile Ehlers-Danlos Syndrome	Arterial dissection, Epistaxis, Aortic root aneurysm, Bruising susceptibility, Striae distensae, ...	ORPHA:285
Mosaic Trisomy 20	Cryptorchidism, Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal ...	ORPHA:1724
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Submucous cleft soft palate, Ventricular septal d...	OMIM:608670
Floating-Harbor Syndrome	Mesocardia, Coarctation of aorta, Atrial septal defect, Persistent left superior vena cava	OMIM:136140
Holoprosencephaly	Tetralogy of Fallot, Panhypopituitarism, Abnormality of the spleen, Abnormal pulmonary valve morp...	ORPHA:2162
Monosomy 22	Contractures of the large joints, Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcyt...	ORPHA:96123
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Dilated cardiomyopathy, Mitral regurgitation, Mitral valve prolapse	OMIM:607459
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cerebral hemorrhage, Patent ductus arteriosus, Ventricular septal defect	OMIM:616682
Floating-Harbor Syndrome	Tetralogy of Fallot, Mesocardia, Persistent left superior vena cava, Coarctation of aorta, Atrial...	ORPHA:2044
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Abnormal aortic arch morphology, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Redundant neck ...	ORPHA:96334
Melnick-Needles Syndrome	Tricuspid valve prolapse, Pulmonary arterial hypertension, Mitral valve prolapse, Stillbirth	OMIM:309350
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral valve prolap...	ORPHA:363700
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect	OMIM:609460
Larsen Syndrome	Aortic aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:150250
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Abnorma...	ORPHA:251014
Williams-Beuren Syndrome	Peripheral pulmonary artery stenosis, Coronary artery stenosis, Myxomatous mitral valve degenerat...	OMIM:194050
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Congenital Disorder Of Glycosylation, Type Iia	Protruding tongue, Ventricular septal defect	OMIM:212066
Holoprosencephaly 2	Single ventricle	OMIM:157170
Osteogenesis Imperfecta	Arterial dissection, Aortic regurgitation, Aortic root aneurysm, Aortic dissection, Bruising susc...	ORPHA:666
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Polyhydramnios, Hepatomegaly, Mitral valve prolapse	ORPHA:508533
Fryns Syndrome	Joint contracture of the hand, Meckel diverticulum, Polysplenia, Intestinal malrotation, Cryptorc...	OMIM:229850
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu...	ORPHA:3385
Renpenning Syndrome 1	Joint contracture of the hand, Tetralogy of Fallot, Decreased testicular size, Situs inversus tot...	OMIM:309500
Microphthalmia, Syndromic 3	Cryptorchidism, Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Ant...	OMIM:206900
Jacobsen Syndrome	Aortic valve stenosis, Hypoplastic left heart, Bone marrow hypocellularity, Annular pancreas, Int...	ORPHA:2308
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Mitral valve prolapse, Wolff-Parkinson-White syndrome	ORPHA:369950
Cornelia De Lange Syndrome 1	High, narrow palate, Elbow flexion contracture, Congenital diaphragmatic hernia, Cryptorchidism, ...	OMIM:122470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c...	OMIM:102700
Marshall-Smith Syndrome	Ventricular septal defect, Premature ventricular contraction, Pulmonary arterial hypertension, At...	OMIM:602535
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Coombs-positive hem...	ORPHA:83471
Johanson-Blizzard Syndrome	Generalized edema, Elevated gamma-glutamyltransferase level, Dilated cardiomyopathy, Intrahepatic...	OMIM:243800
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, High palate	OMIM:613884
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Mi...	OMIM:143095
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma, Neoplas...	ORPHA:653
Jacobsen Syndrome	Annular pancreas, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Thrombocytopen...	OMIM:147791
Multicentric Osteolysis, Nodulosis, And Arthropathy	Mitral valve prolapse	OMIM:259600
Omodysplasia 1	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect	OMIM:258315
Acrofacial Dysostosis 1, Nager Type	Velopharyngeal insufficiency, Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular s...	OMIM:154400
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Cardiomyopathy, Camptodactyly of finger, Supernumerary nipple, Polysplenia, ...	ORPHA:373
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Duodenal atresia, Furrowed tongue, Cryptorchidism, Patent foramen ovale, Ventri...	OMIM:616975
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Hamartoma of tongue, Ventricular septal defect, Aplasia of the epiglott...	ORPHA:434179
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Dilatation of the ventricular cavity, Ventricular septal defect, Pulmonary artery stenosis, Atria...	ORPHA:459070
Chromosome 16P13.3 Duplication Syndrome	Bifid uvula, Tetralogy of Fallot, Facial hypotonia, Cryptorchidism, Ventricular septal defect, At...	OMIM:613458
Koolen-De Vries Syndrome Due To A Point Mutation	Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Intr...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Intr...	ORPHA:363958
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ...	ORPHA:353277
Vater/Vacterl Association	Tetralogy of Fallot, Ventricular septal defect, Tracheoesophageal fistula, Transposition of the g...	OMIM:192350
Helsmoortel-Van Der Aa Syndrome	Abnormal heart morphology, Mitral regurgitation, Mitral valve prolapse, Atrial septal defect, Hea...	OMIM:615873
Poland Syndrome	Abnormality of the liver, Atrial septal defect, Dextrocardia	ORPHA:2911
You-Hoover-Fong Syndrome	Double aortic arch, Coarctation of aorta, Vascular ring	OMIM:616954
Trichothiodystrophy	High, narrow palate, Increased mean corpuscular hemoglobin concentration, Cardiomyopathy, Cryptor...	ORPHA:33364
Kabuki Syndrome 1	Anal stenosis, Anoperineal fistula, Intestinal malrotation, Congenital hypothyroidism, Cryptorchi...	OMIM:147920
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anomalous origin of left subclavian artery, Abnormal heart morphology, Patent foramen ovale, Vent...	ORPHA:438213
Orofaciodigital Syndrome Xiv	Anteriorly placed anus, Hamartoma of tongue, Cryptorchidism, Ventricular septal defect, Aplasia o...	OMIM:615948
Smith-Lemli-Opitz Syndrome	Atrioventricular canal defect, Abnormality of the gallbladder, Increased nuchal translucency, Ven...	ORPHA:818
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Atrial septal defect, Patent...	OMIM:617140
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorc...	OMIM:312870
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Pu...	OMIM:134780
Hajdu-Cheney Syndrome	Intestinal malrotation, Cryptorchidism, Ventricular septal defect, High palate, Patent ductus art...	OMIM:102500
Arboleda-Tham Syndrome	Secundum atrial septal defect, Upper eyelid edema, Ventricular septal defect, Atrial septal defec...	OMIM:616268
Hallermann-Streiff Syndrome	Congestive heart failure	ORPHA:2108
Mowat-Wilson Syndrome	Pyloric stenosis, Abnormal enteric ganglion morphology, Supernumerary nipple, Abnormal heart morp...	OMIM:235730
Chromosome 1P36 Deletion Syndrome, Distal	Dilated cardiomyopathy, Aortic root aneurysm, Tetralogy of Fallot, Patent foramen ovale, Ventricu...	OMIM:607872
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hypertrophic cardiomyopathy, Hepatic steatosis, Ventricular septal def...	OMIM:270400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Mitral regurgitation, Atrial septal defect, Ventricular septal defect	OMIM:271640
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her...	OMIM:301044
Pallister-Hall Syndrome	Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, Ventricular septal defect, Atrial...	ORPHA:672
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Ventricular septal defect, Pineal cyst, Lower-limb joint contracture, Cleft pa...	ORPHA:513456
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Abnormal heart morphology, Decreased response to growth hormone stimulatio...	ORPHA:268261
Acrofacial Dysostosis, Cincinnati Type	Pulmonary artery aneurysm, Bilateral cryptorchidism, Biventricular hypertrophy, Partial atriovent...	OMIM:616462
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Charge Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Aortic arch aneurysm, Abnormal aortic valve morphol...	ORPHA:138
Penile Agenesis	Cryptorchidism, Ventricular septal defect, Tracheoesophageal fistula, Maternal diabetes, Atrial s...	ORPHA:49
Perlman Syndrome	Interrupted aortic arch, Polyhydramnios, Edema, Ascites	OMIM:267000
Early Infantile Epileptic Encephalopathy	Precocious puberty, Cleft palate, Ventricular septal defect	ORPHA:1934
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Anal stenosis, Elbow flexion con...	OMIM:181450
Coffin-Siris Syndrome 1	Tetralogy of Fallot, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Ven...	OMIM:135900
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Townes-Brocks Syndrome 1	Anal stenosis, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Hypothyroidism, Tr...	OMIM:107480
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Alström Syndrome	Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Dilated cardiomyopathy, Hepatic failu...	ORPHA:64
Peters-Plus Syndrome	Ventricular septal defect, Biliary tract abnormality, Atrial septal defect, Polyhydramnios, Bilob...	OMIM:261540
Genitopatellar Syndrome	Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Cryptorchidism, Knee flexion c...	OMIM:606170
Wolf-Hirschhorn Syndrome	Precocious puberty, Accessory spleen, Malrotation of small bowel, Decreased muscle mass, Cryptorc...	OMIM:194190
Cornelia De Lange Syndrome	Volvulus, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular se...	ORPHA:199
Stickler Syndrome	Arrhythmia, Mitral valve prolapse	ORPHA:828
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Sotos Syndrome	Abnormal heart morphology, Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Prol...	ORPHA:821
Roberts-Sc Phocomelia Syndrome	Biliary tract abnormality, Ventricular septal defect, Atrial septal defect, Stillbirth, Polyhydra...	OMIM:268300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Proteus Syndrome	Arteriovenous malformation, Thymus hyperplasia, Decreased muscle mass, Diabetes insipidus, Myofib...	ORPHA:744
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:619522
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Redundant n...	OMIM:216340
Goodpasture Syndrome	Pulmonary hemorrhage, Pallor	OMIM:233450
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Bifid uvula, High palate, Ventricular septal defect	OMIM:620330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Patent d...	ORPHA:261552
Craniofacial Microsomia 1	Tetralogy of Fallot, Right aortic arch, Ventricular septal defect, Coarctation of aorta, Patent d...	OMIM:164210
Pallister-Killian Syndrome	Aortic valve stenosis, Hypertrophic cardiomyopathy, Polyhydramnios, Ventricular septal defect, Co...	OMIM:601803
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch	ORPHA:457284

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tll1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tll1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Inactivation of bone morphogenetic protein 1 (Bmp1) and tolloid-like 1 (Tll1) in cells expressing type I collagen leads to dental and periodontal defects in mice.	Journal of molecular histology (December 2016)	Tll1^{tm1a(EUCOMM)Wtsi}	PMC6635762

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tll1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Tll1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tll1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us