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Gene: Smad7 MGI:1100518

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

SMAD family member 7

Synonyms:

Madh7

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 Smad7 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 Smad7 (1 diseases)
Human diseases predicted to be associated with Smad7 (1177 diseases)

The table below shows human diseases associated to Smad7 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Colorectal Cancer, Susceptibility To, 3		Colon cancer	OMIM:612229

The table below shows human diseases predicted to be associated to Smad7 by phenotypic similarity.

Disease	Matching phenotypes	Source
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602087
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave...	ORPHA:90064
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila...	ORPHA:2041
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi...	ORPHA:49827
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the...	OMIM:620236
Syngnathia	Cleft palate	OMIM:119550
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo...	OMIM:615779
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis	OMIM:616622
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG, Muscular dystrophy	OMIM:309930
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate	OMIM:261800
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu...	ORPHA:99050
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Cardiomyopathy, Dilated, 1B	Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con...	OMIM:600884
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism	ORPHA:1074
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio...	OMIM:618052
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr...	OMIM:616276
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu...	ORPHA:45452
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper...	OMIM:613243
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej...	OMIM:612422
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn...	ORPHA:563
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Nathalie Syndrome	Abnormal EKG, Skeletal muscle atrophy	OMIM:255990
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276556
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
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
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E...	OMIM:300696
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we...	ORPHA:1177
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Hb Bart'S Hydrops Fetalis	Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Pallor, Oligohydramnios	ORPHA:163596
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276575
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
American Trypanosomiasis	Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythm...	ORPHA:3386
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276580
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Sonoda Syndrome	Ventricular septal defect, Narrow mouth	OMIM:270460
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Sprengel Deformity	Torticollis, Cleft palate, Short neck	ORPHA:3181
Congenital Aortic Valve Stenosis	Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pu...	OMIM:249670
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy, Pallor	OMIM:613561
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora...	ORPHA:980
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag...	OMIM:608978
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S...	OMIM:126320
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
Mmep Syndrome	Cryptorchidism, Median cleft lip, Ventricular septal defect, Orofacial cleft	ORPHA:3434
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypoplasia of the ...	ORPHA:3099
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete...	ORPHA:1329
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophi...	ORPHA:251071
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopi...	ORPHA:2476
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural effusion, Bra...	ORPHA:330001
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Atrial Fibrillation, Familial, 15	Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu...	OMIM:615770
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At...	OMIM:306955
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Pedal edema, Ri...	ORPHA:422
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hypertrophic cardiomyo...	OMIM:618815
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Nemaline Myopathy 9	High palate, Ventricular septal defect, Cleft palate	OMIM:615731
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block...	OMIM:310300
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ...	ORPHA:99125
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Short neck, N...	OMIM:617022
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Exaggerated cupid's bow, Deep philtrum, Patent ductus arteriosus, High...	ORPHA:261120
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Diabetic Embryopathy	Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ...	ORPHA:1926
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Grange Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp...	ORPHA:79094
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e...	OMIM:540000
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Scimitar Syndrome	Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing...	ORPHA:185
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Left ventricular hypertrophy, Ventricular hypertrophy, Bradycardia, Congestive heart failure	OMIM:619048
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Transposition of the great arteries, Neonatal death, Atrioventricul...	OMIM:314390
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate...	OMIM:270100
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Abno...	ORPHA:1041
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus...	OMIM:601927
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Familial Isolated Restrictive Cardiomyopathy	Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi...	ORPHA:75249
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Acitretin/Etretinate Embryopathy	Conotruncal defect, Hypoplasia of the thymus, High palate, Atrioventricular canal defect, Median ...	ORPHA:40366
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac...	OMIM:619040
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A...	ORPHA:1677
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Patent du...	OMIM:612561
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement...	ORPHA:57777
Fetal Minoxidil Syndrome	Umbilical hernia, Ventricular septal defect, Cryptorchidism	ORPHA:1918
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he...	OMIM:243150
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition...	OMIM:201000
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m...	OMIM:253800
Propionic Acidemia	Cardiomyopathy, Arrhythmia	ORPHA:35
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia, Camptodactyly	OMIM:618453
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension	ORPHA:3222
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A...	OMIM:614702
Heart Defects, Congenital, And Other Congenital Anomalies	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ...	OMIM:600001
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Muscular Dystrophy, Progressive Pectorodorsal	Scapular winging, Arrhythmia, Shoulder girdle muscle weakness, Muscular dystrophy	OMIM:310095
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Leber Hereditary Optic Neuropathy	Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Holzgreve Syndrome	Hypoplastic left heart, Cleft palate, Cleft upper lip	OMIM:236110
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, Low posterior hairline, Lim...	OMIM:214300
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Catel-Manzke Syndrome	Ventricular septal defect, Cleft palate, Glossoptosis, Atrial septal defect, Oral synechia	ORPHA:1388
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Increased variability in muscle fiber diameter, Bradycardia, Neonatal death, Weakness of facial m...	OMIM:620265
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala...	OMIM:613870
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:94080
Beta-Thalassemia	Hypertrophic cardiomyopathy, Pallor, Skin ulcer	ORPHA:848
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis	OMIM:618624
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Cleft palate, Webbed neck, Hydranencephaly, Truncus arteriosus	OMIM:601355
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi...	ORPHA:228410
Hemochromatosis, Type 2A	Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:602390
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Isolated Anencephaly	Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor	ORPHA:276608
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Webbed neck, Pleural effusio...	OMIM:615355
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio...	ORPHA:85443
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations, Pallor	ORPHA:324575
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Immunodeficiency 9	Stomatitis, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios...	ORPHA:363705
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula...	OMIM:212138
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Mitral valve pr...	ORPHA:230839
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi...	ORPHA:1354
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Dextrocardia	Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion, ...	ORPHA:1666
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ...	OMIM:249270
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S...	OMIM:608227
Diprosopus	Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate	ORPHA:1681
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ...	ORPHA:1780
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Cryptorchidism, Cleft palate, Tooth agenesis, Abnormal aortic morpholo...	ORPHA:1166
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Thick up...	OMIM:619717
Symmetrical Thalamic Calcifications	Arrhythmia, Polyhydramnios	ORPHA:1314
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent duc...	OMIM:618652
Idiopathic Pulmonary Hemosiderosis	Heart murmur, Pallor, Diffuse alveolar hemorrhage, Cardiomegaly	ORPHA:99931
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
Dystonia 23	Arrhythmia, Torticollis	OMIM:614860
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal jugular vein morphology, Edema of the dorsum of feet, Increased...	ORPHA:275766
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Hec Syndrome	Cardiomyopathy, Arrhythmia, Polyhydramnios, Endocardial fibroelastosis	ORPHA:2119
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ectopic anus, Short philtrum	ORPHA:94066
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy...	OMIM:607598
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Perianal abscess, ...	OMIM:612541
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val...	ORPHA:3405
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Congenital Sialidosis Type 2	Abnormal EKG, Edema, Telangiectasia, Abnormal heart morphology, Cherry red spot of the macula, As...	ORPHA:93400
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia	OMIM:614654
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left atrium, Cleft...	OMIM:615524
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ...	ORPHA:3426
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste...	OMIM:617478
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph...	OMIM:614302
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart failure, Flexion c...	ORPHA:1194
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,...	OMIM:617021
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Ventricular septal defect	OMIM:614876
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, Leukopenia, Lymphopenia	OMIM:620210
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re...	OMIM:619167
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia, Pallor	ORPHA:90037
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hypertrophic car...	OMIM:615279
Li-Campeau Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypothyroidism, Long philtru...	OMIM:619189
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	ORPHA:3449
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria...	OMIM:612946
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Benign Paroxysmal Torticollis Of Infancy	Torticollis, Pallor	ORPHA:71518
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ...	ORPHA:861
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Evans Syndrome	Pallor, Syncope, Epistaxis, Petechiae	ORPHA:1959
Optic Atrophy 1	Pallor	OMIM:165500
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura...	OMIM:617397
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper...	OMIM:618775
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Abno...	ORPHA:401935
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia	OMIM:606069
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ...	OMIM:615084
Noonan Syndrome 5	Polyhydramnios, Webbed neck, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic ca...	OMIM:611553
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo...	OMIM:609286
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, High palate	OMIM:609654
Lambert Syndrome	Wide mouth, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Macular edema, Abnormal left ventricular function, Cardiomyop...	ORPHA:892
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Singleton-Merten Syndrome 2	Aortic valve calcification, Aortic valve stenosis, Psoriasiform lesion, Arrhythmia	OMIM:616298
Tyshchenko Syndrome	Ventricular septal defect, Supernumerary nipple, High, narrow palate, Cryptorchidism, Narrow pala...	OMIM:615102
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric...	ORPHA:97214
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arterioveno...	ORPHA:624
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong...	OMIM:614473
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas...	OMIM:603554
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generalized amyotrophy, Arrhythmia	OMIM:616516
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Hypogonadotropic hypogonadism, Cleft palate, Cryptorchidism	OMIM:612370
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten...	OMIM:179613
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Adams-Oliver Syndrome 6	Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension	OMIM:616589
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Short neck, High, narrow palate, Cleft palate, Abnormal aortic morphol...	ORPHA:2516
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Cleft palat...	ORPHA:2345
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Open mouth, Ventricular septal defect	OMIM:616816
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Hemochromatosis, Type 1	Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Pleural effusion, Arrhyth...	OMIM:235200
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death	ORPHA:156
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Peripheral pulmonary artery stenosis, Ventricular septal defect, Pulmonary artery stenosis, Dry s...	OMIM:280000
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruption of permanent tee...	OMIM:618506
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Oligodontia, Atria...	OMIM:618330
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Atelis Syndrome 1	Ventricular septal defect, Carious teeth, Thrombocytopenia, Leukopenia, High palate, Long philtru...	OMIM:620184
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum	ORPHA:398156
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Thoracoabdominal Syndrome	Patent ductus arteriosus, Transposition of the great arteries, Congenital diaphragmatic hernia, E...	OMIM:313850
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla...	OMIM:220210
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f...	OMIM:301500
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Hypoplasia of the thymus, Cleft palate, Abnormal heart morphology	OMIM:214110
Syndromic Diarrhea	Lymphopenia, Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Gastritis, Increa...	ORPHA:84064
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia	ORPHA:157973
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular...	ORPHA:70591
Chime Syndrome	Ventricular septal defect, Erythema, Tetralogy of Fallot, Skin ulcer, Transposition of the great ...	ORPHA:3474
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal hear...	ORPHA:398124
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P...	ORPHA:26793
Transaldolase Deficiency	Pancytopenia, Ventricular septal defect, Short neck, Thrombocytopenia, Deep philtrum, Patent duct...	OMIM:606003
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Primary Lateral Sclerosis, Juvenile	Spasticity of facial muscles, Pallor	OMIM:606353
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor	ORPHA:90036
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip, Anterior...	OMIM:601357
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Cln3 Disease	Left ventricular hypertrophy, T-wave inversion, Bradycardia	ORPHA:228346
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect	OMIM:235750
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Myocarditis, Congestive ...	ORPHA:206569
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Shor...	OMIM:232300
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia	ORPHA:99944
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f...	ORPHA:352447
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:276621
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d...	OMIM:619769
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Noonan Syndrome 9	Webbed neck, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Macroglossia,...	OMIM:615668
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia, Pallor	ORPHA:90033
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Vasculitis, ...	ORPHA:33226
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios...	ORPHA:284169
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Low-output ...	ORPHA:565612
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor	OMIM:609053
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Pedal edema, Pleural effusion, Hypotension, Arrhythmia, Pulmonary edema	ORPHA:188
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Cleft palate, Cleft upper lip	OMIM:614402
Necrotizing Enterocolitis	Shock, Edema, Abnormal heart morphology, Bradycardia, Hypotension, Ascites	ORPHA:391673
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Downturned cor...	OMIM:618067
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia	OMIM:615550
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T...	ORPHA:2131
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Pallor, Lymphedema	ORPHA:3226
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Short neck, Cryptorchidism, Patent ductus arteriosu...	OMIM:612938
8Q12 Microduplication Syndrome	Ventricular septal defect, Narrow mouth, Everted lower lip vermilion, Long philtrum, Atrial septa...	ORPHA:228399
Skraban-Deardorff Syndrome	Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee...	OMIM:617616
3-Hydroxy-3-Methylglutaric Aciduria	Cardiac arrest, Edema, Dilated cardiomyopathy, Dehydration, Pallor, Hypotension	ORPHA:20
Dominant Beta-Thalassemia	Hypoplasia of the musculature, High-output congestive heart failure, Dilated cardiomyopathy, Skin...	ORPHA:231226
Tetraamelia Syndrome 2	Absent nipple, Ventricular septal defect, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankylo...	OMIM:618021
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia	ORPHA:228305
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion...	OMIM:618974
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis	ORPHA:3191
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia, Facial palsy	ORPHA:772
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequence, Cleft palate, Anteriorly...	OMIM:619980
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Hyposegmenta...	OMIM:169400
Ogden Syndrome	Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cutis laxa, Cardiogenic shock,...	ORPHA:276432
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Hemoglobin D Disease	Pallor	ORPHA:90039
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer...	ORPHA:436252
Hereditary Spherocytosis	Restrictive cardiomyopathy, Pallor, Skin ulcer	ORPHA:822
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Filippi Syndrome	Ventricular septal defect, Cryptorchidism, Thin vermilion border, Short philtrum, Hypodontia, Mic...	OMIM:272440
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septa...	OMIM:612474
Holoprosencephaly 11	Cleft lip, Polysplenia, Cleft palate	OMIM:614226
Noonan Syndrome 10	Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Mitral valve ...	OMIM:616564
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Ascending aorta hypoplasia, Flexion contracture, Knee flexion contracture, Facial ...	OMIM:619503
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Breath-Holding Spells	Pallor	OMIM:607578
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Serkal Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios	ORPHA:139466
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, No...	ORPHA:1335
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Oral ulcer, Lymph...	OMIM:602450
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ...	ORPHA:85446
22Q11.2 Deletion Syndrome	Short neck, Abnormal aortic arch morphology, Short philtrum, Hypoplasia of the thymus, Atrial sep...	ORPHA:567
Carpenter Syndrome 2	Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Knee fle...	OMIM:614976
Pulmonary Arteriovenous Malformation	Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangiectasia, Pulmon...	ORPHA:2038
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Cleft palate, Bile duct proli...	OMIM:611134
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Increased serum...	OMIM:618901
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,...	OMIM:600987
Restrictive Dermopathy	Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Polyhydramnios, Patent ductus...	ORPHA:1662
Burn-Mckeown Syndrome	Ventricular septal defect, Cleft upper lip, Cleft palate, Thin vermilion border, Short philtrum, ...	OMIM:608572
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
15Q14 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt...	ORPHA:261190
Suleiman-El-Hattab Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Thick lower lip vermilion, W...	OMIM:618950
Methimazole Embryofetopathy	Ventricular septal defect, Abnormality of the thyroid gland, Esophageal atresia, Tracheoesophagea...	ORPHA:1923
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Short philt...	OMIM:188400
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Beta-Thalassemia Major	Hypoplasia of the musculature, High-output congestive heart failure, Dilated cardiomyopathy, Skin...	ORPHA:231214
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Increased nuchal transl...	OMIM:618494
Sepsis In Premature Infants	Tachycardia, Edema, Pallor, Bradycardia, Hypotension, Petechiae, Purpura	ORPHA:90051
Woods Syndrome	Thin vermilion border, Ventricular septal defect, Supernumerary nipple	OMIM:615236
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Hydrops fetalis, Myopathy, Arrh...	OMIM:609015
Congenital Rubella Syndrome	Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Type I diabe...	ORPHA:290
Char Syndrome	Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti...	ORPHA:46627
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased nuchal translucency, W...	OMIM:617635
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli...	ORPHA:3260
Refractory Anemia With Excess Blasts	Palpitations, Anemic pallor, Retinal hemorrhage, Pedal edema	ORPHA:86839
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest...	ORPHA:2326
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Post...	ORPHA:75389
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Pate...	OMIM:605275
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thickened nuchal skin fold, Thin upper lip vermilion, Ventricular septal defect, Patent ductus ar...	OMIM:220500
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Parachute mitral va...	OMIM:618316
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Pallor	ORPHA:75564
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Trigonocephaly With Short Stature And Developmental Delay	High palate, Ventricular septal defect, Broad alveolar ridges	OMIM:314320
Agel Amyloidosis	Facial palsy, Edema, Xerostomia, Cutis laxa, Cardiomyopathy, Blepharochalasis, Arrhythmia, Dry sk...	ORPHA:85448
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia, Dry skin	OMIM:610768
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Glutamine Deficiency, Congenital	Erythema, Flexion contracture, Bradycardia, Camptodactyly, Neonatal death	OMIM:610015
Neu-Laxova Syndrome 1	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Transposition of...	OMIM:256520
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Vascular ring, Mitr...	OMIM:603387
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Bradycardia, Hypotension, Pulmonary edema	ORPHA:70587
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymus...	OMIM:613177
Idiopathic Congenital Hypothyroidism	Facial edema, Macroglossia, Bradycardia	ORPHA:95717
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:29072
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia	ORPHA:42
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Broad secondary alveolar ridge, High palate, Ventricular septal defect	ORPHA:3369
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, P...	ORPHA:2519
Costello Syndrome	Ventricular septal defect, Redundant skin, Polyhydramnios, Lack of skin elasticity, Mitral valve ...	ORPHA:3071
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Pallor	ORPHA:263455
Joubert Syndrome 18	Lobulated tongue, Occipital encephalocele, Ventricular septal defect, Cleft palate	OMIM:614815
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upp...	OMIM:614294
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl...	OMIM:616897
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Roifman Syndrome	Noncompaction cardiomyopathy, Thin upper lip vermilion, Ventricular septal defect, Eosinophilia, ...	OMIM:616651
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios	OMIM:263630
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, I...	OMIM:618870
Nephrotic Syndrome, Type 11	Ventricular septal defect, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, Smooth p...	OMIM:616730
Eec Syndrome	Abnormal dental enamel morphology, Decreased response to growth hormone stimulation test, Carious...	ORPHA:1896
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Recombinant 8 Syndrome	Ventricular septal defect, Cleft upper lip, Abnormality of the dentition, Cryptorchidism, Patent ...	ORPHA:96167
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Scorpion Envenomation	Bundle branch block, Tachycardia, Pulmonary edema, Cardiac conduction abnormality, Edema, Myocard...	ORPHA:466677
Keutel Syndrome	Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
Primary Myelofibrosis	Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura	ORPHA:824
Microphthalmia, Syndromic 9	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic...	OMIM:601186
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thickened nuchal skin fold, Thin upper lip vermilion, Redundant neck skin, Ventricular septal def...	OMIM:235255
Liddle Syndrome	Hypertension, Arrhythmia, Cerebral ischemia	ORPHA:526
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham...	OMIM:174300
Aase-Smith Syndrome I	Open mouth, Ventricular septal defect, Cleft palate	OMIM:147800
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo...	OMIM:121050
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Po...	OMIM:312870
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm...	OMIM:192430
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Flexion contracture, Erythema, Retinal hemorrhage, Hypert...	OMIM:614653
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Camptodactyly, Atrial sept...	OMIM:301039
Fraser Syndrome 2	Intestinal malrotation, Short neck, Rectal atresia, Hypoplasia of the thymus, Narrow mouth, Anal ...	OMIM:617666
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block	OMIM:530000
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Carnitine Palmitoyltransferase I Deficiency	Arrhythmia, Cardiomegaly	OMIM:255120
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr...	ORPHA:251274
Kagami-Ogata Syndrome	Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Flexion con...	OMIM:608149
Chromosome 2Q37 Deletion Syndrome	Arrhythmia, Subvalvular aortic stenosis	OMIM:600430
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Cleft lip, Cryptorchidism, Cleft palate, Pulmonic stenosis, ...	OMIM:619123
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect	OMIM:613730
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Neonatal death, Atrial septal defe...	OMIM:265380
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Arrhythmia, Camptodactyly of finger	ORPHA:2928
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Short neck, Cleft palate, Lo...	OMIM:615583
Isolated Atp Synthase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Ventricular septal defect, Non-midline cleft lip, Cleft palate, Poly...	ORPHA:1770
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Diastema, Cryptorchid...	ORPHA:329224
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Mitral regurgi...	ORPHA:746
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Eryth...	ORPHA:727
Thrombotic Thrombocytopenic Purpura	Arrhythmia, Stroke, Myocardial infarction	ORPHA:54057
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Intestinal malrotation, Protruding tongue, Cryptorchidism, Patent duct...	OMIM:300963
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac...	ORPHA:70
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Limb joint contracture, Bradycardia	OMIM:619814
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Short neck, Cryptorchidism, Abnormal heart morphology, Downturned corn...	ORPHA:369891
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath...	OMIM:614921
Beta-Ketothiolase Deficiency	Edema, Dehydration, Hypertension, Pallor, Hypotension	ORPHA:134
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Deep...	ORPHA:404440
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Polyhydramnios, Centrally nucleated s...	OMIM:620351
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, EMG: myopathic abnormalities, Stroke, ...	ORPHA:480864
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Sm...	OMIM:105650
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Intestinal malrotation, Short neck, ...	ORPHA:7
Prune Belly Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A...	ORPHA:2970
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla...	OMIM:618280
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate, Adrenal gland agen...	OMIM:611812
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Joint contracture of the 5th finger, Bradycardia, Atrioventricular block	OMIM:614407
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Skin ulcer, Cerebral ischemia, Aortic ...	ORPHA:397
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart	OMIM:618142
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Cutis ...	OMIM:123700
Periventricular Nodular Heterotopia 7	Ventricular septal defect, Dental crowding, Cryptorchidism, Pierre-Robin sequence, Cleft palate, ...	OMIM:617201
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conic...	OMIM:106260
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:618348
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Bile duct proliferation	OMIM:611561
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Ventricular septal defect, Smooth philtrum	OMIM:602501
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Downturned corners of mouth, Ventricular septal defect, Short philtrum, Short neck	ORPHA:93267
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Supernumerary ni...	OMIM:612530
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Emanuel Syndrome	Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Truncus arteriosus, Dental cr...	OMIM:609029
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Sup...	OMIM:618164
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, EMG: myopathic abnormalities, Viral infec...	ORPHA:57
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductu...	ORPHA:500159
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopath...	ORPHA:465508
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Deep philtrum, Pyloric ...	ORPHA:435638
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Abnormal left ventricular functio...	OMIM:301056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ...	OMIM:615351
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Non-midline cleft lip, Meningoc...	ORPHA:1908
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia	OMIM:616949
Carnitine-Acylcarnitine Translocase Deficiency	Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Pallor	ORPHA:348
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect	OMIM:615879
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Trisomy 13	Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P...	ORPHA:3378
Fumarase Deficiency	Ascites, Perimembranous ventricular septal defect, Pallor, Polyhydramnios	OMIM:606812
Lymphatic Malformation 5	Hypoplasia of lymphatic vessels, Cleft palate	OMIM:153200
Lujo Hemorrhagic Fever	Shock, Generalized edema, Facial edema, Myocarditis, Periorbital edema, Subconjunctival hemorrhag...	ORPHA:319213
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Precocious puberty, Cryptorchidism, High palate, Short philtrum, Hypog...	ORPHA:3306
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Carious teeth, Velopharyngeal insufficiency, Patent ductus arteriosus,...	OMIM:613680
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Pallor	OMIM:600462
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Emanuel Syndrome	Delayed eruption of teeth, Redundant neck skin, Ventricular septal defect, Truncus arteriosus, De...	ORPHA:96170
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth...	ORPHA:254346
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology	ORPHA:254534
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect, Polyhydramnios	ORPHA:2256
Dravet Syndrome	Pallor	ORPHA:33069
Noonan Syndrome 4	Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Webbed neck, Atrial septal defect, ...	OMIM:610733
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Arrhythmia, Mildly reduced left ventricular ejection fraction	OMIM:618098
Friedreich Ataxia 2	Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge...	OMIM:601992
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri...	OMIM:612562
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hyp...	OMIM:617506
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc...	ORPHA:2331
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Thick lower lip vermi...	OMIM:618027
Fabry Disease	Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori...	ORPHA:324
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Macroglossia, Dry skin, Bradycardia	ORPHA:226313
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Congestive heart failure, Rhabdomyolysis, Abnormal hea...	ORPHA:26791
Imerslund-Gräsbeck Syndrome	Tachycardia, Pallor	ORPHA:35858
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Ventricular septal defect, Increased overbite	OMIM:618504
Beta-Thalassemia Intermedia	High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer	ORPHA:231222
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus, Absent pulm...	OMIM:600460
Kury-Isidor Syndrome	Tented upper lip vermilion, Ventricular septal defect, Short neck, High palate, Widely spaced tee...	OMIM:619762
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Short neck, Cryptorchidism, P...	OMIM:244300
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Pate...	ORPHA:457193
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Palpitations, Hypotensi...	ORPHA:100078
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Dehydration, Syncope, Orthostatic syncope	ORPHA:230
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Pleural effusion, Reduced left ventricular ejection fra...	ORPHA:542323
Sheehan Syndrome	Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin	ORPHA:91355
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Increased nuchal translucency, ...	ORPHA:453499
Chromosome 18Q Deletion Syndrome	U-Shaped upper lip vermilion, Thin upper lip vermilion, Absence of the pulmonary valve, Ventricul...	OMIM:601808
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor	OMIM:615631
Ataxia-Telangiectasia	Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplas...	OMIM:208900
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Short neck, Patent ductus arteriosus, Cleft palate, High palate	ORPHA:52055
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dental crowding, Cleft upper lip, Short ne...	OMIM:612582
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia	OMIM:619909
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Edema, Periorbital edema, Myocar...	ORPHA:221
Vater/Vacterl Association	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr...	OMIM:192350
Chromosome 9P Deletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Short neck, High, narrow palate, Deep philtr...	OMIM:158170
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Bradycardia, Limb hypertonia	OMIM:614498
Typhoid	Gastrointestinal hemorrhage, Arrhythmia, Epistaxis, Cardiac arrest	ORPHA:99745
Congenital Disorder Of Glycosylation, Type Iil	Peau d'orange, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Dry skin	OMIM:614576
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ...	ORPHA:2306
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Dental crowding, Intestinal malrotation, Carious teeth, Cryptorchidism...	OMIM:617602
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia	OMIM:617450
Mgat2-Cdg	Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ...	ORPHA:79329
Insulin-Like Growth Factor I, Resistance To	Thin upper lip vermilion, Diabetes mellitus, Ventricular septal defect, Narrow mouth, Webbed neck...	OMIM:270450
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta...	ORPHA:444072
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Pallor, Hypotension	ORPHA:98849
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogenic shock, ...	ORPHA:31824
Infection-Related Hemolytic Uremic Syndrome	Edema, Myocarditis, Hypertension, Pleural empyema, Pallor, Hypertensive crisis, Generalized edema	ORPHA:544482
Cat Eye Syndrome	Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis...	OMIM:115470
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Coarctation of aorta, Atrial...	ORPHA:2008
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus arteriosus, Orofacia...	ORPHA:2328
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am...	ORPHA:66634
Opitz Gbbb Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cleft upper lip, Rectourethral fistula, Cryp...	OMIM:300000
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morph...	ORPHA:124
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy, Stroke-like episode	OMIM:619272
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Cryptorchidism, Thick lower lip vermilion, Submucous cleft hard palate...	OMIM:619103
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe...	OMIM:613327
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Ventricular septal defect, Malabsorption, Cryptorchidism, Patent ductus ar...	ORPHA:452
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Ventricular septal defect, Short neck, Cryptorchidism, High palate, Lon...	OMIM:617452
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Webbe...	OMIM:609942
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Patent ductus arter...	ORPHA:354
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital muscular torticollis, Ventricular septal defect, Bicuspid ao...	ORPHA:457279
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Macroorchidism, Ventricular septal defect, Dental crowding, Deep philtr...	OMIM:309520
Esophageal Atresia	Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Pallor, Tetralogy of Fallot	ORPHA:1199
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum...	ORPHA:1071
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Short neck, Cleft lip, Patent ductus arterios...	OMIM:616894
Spondylo-Ocular Syndrome	Ventricular septal defect, Short neck, Low posterior hairline, Webbed neck, Thin vermilion border...	ORPHA:85194
Familial Thyroid Dyshormonogenesis	Facial edema, Macroglossia, Bradycardia	ORPHA:95716
Mckusick-Kaufman Syndrome	Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Cleft...	ORPHA:2473
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Short neck, Cryptorchid...	ORPHA:1655
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve	OMIM:617751
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Patent ductus arteriosus, Varicose veins, Webbed neck, Arrhy...	ORPHA:33001
Congenital Dyserythropoietic Anemia Type Iii	Melena, Pallor	ORPHA:98870
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus	OMIM:617516
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef...	OMIM:615849
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
19P13.3 Microduplication Syndrome	Ventricular septal defect, Unilateral cryptorchidism, Precocious puberty, Cleft palate, Thick ver...	ORPHA:447980
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin upper lip vermilion, Redundant neck skin, Short lingual frenulum, Ventricular septal defect,...	OMIM:617360
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he...	ORPHA:488618
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Abnormal vena cava morphology, Double outlet...	ORPHA:163956
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Ventricular septal defect, Orofacial cleft	OMIM:615630
Spinocerebellar Ataxia, Autosomal Recessive 33	Arrhythmia	OMIM:620208
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm,...	OMIM:616652
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Facial palsy, Edema, Quadriceps muscle weakness, Dilated cardiomyopathy, Rag...	ORPHA:254892
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval, Skeletal muscle atrophy	OMIM:312750
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Patent ductus arteriosus, O...	OMIM:617061
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertension, Arrhythmia, Neonatal death, Hypertrophic cardiomyopathy, Oligohydramnios	OMIM:614052
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Arrhythmia, Cardiac arrest	ORPHA:168593
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Cardiomyopathy, Macrogl...	ORPHA:258
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Reticulocytopenia, Cleft ...	OMIM:613309
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymph...	OMIM:235510
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cleft upper lip, Comp...	OMIM:264480
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Ventricular septal defect, Heart murmur	ORPHA:166035
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Monosomy 22	Aplasia of the thymus, Short neck, Hypochromic microcytic anemia, Hepatosplenomegaly, Thin vermil...	ORPHA:96123
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
Lyme Disease	Joint swelling, Arrhythmia, Atrioventricular block	ORPHA:91546
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Short neck, Bilateral cryptorchidism, Patent ductus arteriosus, High p...	OMIM:300472
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, Hydrocele test...	OMIM:145420
3Q29 Microduplication Syndrome	Ventricular septal defect, Abnormality of the dentition, Short neck, Deep philtrum, Cleft palate,...	ORPHA:251038
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Legionnaires Disease	Pericarditis, Myocarditis, Endocarditis, Hypotension, Arrhythmia	ORPHA:549
Diaphragmatic Hernia 4, With Cardiovascular Defects	Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhyd...	OMIM:620025
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Short neck, Cryptorchidism, Pa...	OMIM:130720
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Arterial tortuosity, Oligohydramnios, Cutis laxa, Aortic root an...	OMIM:614437
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Thin upper lip vermilion, Ventricular septal defect, Short neck, Cryptorchidism, High palate, Lon...	ORPHA:505237
D-Glyceric Aciduria	Patent ductus arteriosus, Bradycardia	OMIM:220120
Brachydactyly, Type B1	Joint contracture of the hand, Ventricular septal defect, Camptodactyly	OMIM:113000
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Heart-Hand Syndrome Type 2	Arrhythmia	ORPHA:1350
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short neck, Cryptorch...	OMIM:610759
Degcags Syndrome	Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Patent ductus ...	OMIM:619488
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow...	OMIM:602782
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Short neck, Esophagea...	OMIM:300514
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect, Arthrogryposis mul...	OMIM:208085
Trisomy 1Q	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern...	ORPHA:261344
Gitelman Syndrome	Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdomyolysis, Low-to-normal bl...	ORPHA:358
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect, Hypothyroidism	OMIM:619908
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Cleft upper lip, Cr...	ORPHA:261236
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar...	ORPHA:99827
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Pulmonary artery stenosis, Abnormal pulmonary valve morphology, ...	ORPHA:667
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Leber Optic Atrophy	Myopathy, Arrhythmia, Central retinal vessel vascular tortuosity	OMIM:535000
Heart And Brain Malformation Syndrome	Ventricular septal defect, High, narrow palate, Cleft lip, Thick lower lip vermilion, Everted low...	OMIM:616920
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Intestinal malrotation,...	ORPHA:99776
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Anemic pallor, Edema	ORPHA:329971
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Myopathy With Extrapyramidal Signs	Tented upper lip vermilion, Ventricular septal defect, Short neck, Splenomegaly, Leukocytosis	OMIM:615673
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosu...	OMIM:617159
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of upper lip vermillion, Ventricular septal defect, Dental crowding, Abnormality of t...	ORPHA:251028
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta...	ORPHA:261494
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Atrial septal defect, Arrhythmia, Patent foramen ovale	OMIM:619184
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop...	ORPHA:682
Tay-Sachs Disease	Cherry red spot of the macula, Pallor	OMIM:272800
Pituitary Apoplexy	Hypertension, Pallor, Hypotension	ORPHA:95613
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta...	ORPHA:2876
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia, Vascular dilatation	ORPHA:221098
Lateral Meningocele Syndrome	Ventricular septal defect, Dental crowding, Short neck, High, narrow palate, Cryptorchidism, Meni...	ORPHA:2789
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Cryptorchidism, Thrombocytopenia, Dilated cardiomyopathy, Wide mouth, ...	ORPHA:261250
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
19Q13.11 Microdeletion Syndrome	Dry skin, Ventricular septal defect, Thin skin	ORPHA:217346
Renal Agenesis	Hypertension, Ventricular septal defect, Oligohydramnios	ORPHA:411709
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Down Syndrome	Redundant neck skin, Atrial septal defect, Atrioventricular canal defect, Hypothyroidism, Patent ...	OMIM:190685
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Pallor	OMIM:605549
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth	OMIM:618798
Tetanus	Hypertension, Tachycardia, Bradycardia	ORPHA:3299
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Precocious puberty, High, n...	OMIM:619312
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cleft upper lip, Pyloric stenosis, Patent ductu...	OMIM:610443
Familial Isolated Hypoparathyroidism	Myopathy, Arrhythmia	ORPHA:2238
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion contracture, ...	OMIM:608836
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Ventricular septal defect, Vascular dilatation	OMIM:219730
Rabson-Mendenhall Syndrome	Enlarged ovaries, Ventricular septal defect, Dental crowding, Abnormality of the dentition, Preco...	ORPHA:769
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect	OMIM:614424
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont...	OMIM:608328
Senior-Loken Syndrome 8	Pallor, Vascular dilatation	OMIM:616307
Holoprosencephaly 13, X-Linked	Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palat...	OMIM:301043
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Irida Syndrome	Pallor	ORPHA:209981
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ...	OMIM:300855
Non-Functioning Pituitary Adenoma	Pallor, Hypotension	ORPHA:91349
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia	ORPHA:228308
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Thyr...	OMIM:620186
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Carious teeth, Cryptorchidism, Thin vermilion border, Ap...	ORPHA:96097
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Short neck, Secundum atrial septal defect, Long neck, Cry...	OMIM:264090
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,...	OMIM:614609
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Ventricular septal defect	ORPHA:79243
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy	OMIM:610131
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Arrhythmia, Cerebral ischemia, Arteriovenous malformation	ORPHA:60040
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Prolonged QT interval, Coronary artery atherosclerosis, Ventr...	ORPHA:36913
Seckel Syndrome 9	Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Pulmonary artery hypo...	OMIM:616777
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Proteus-Like Syndrome	Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ova...	ORPHA:2969
Cold Agglutinin Disease	Pallor	ORPHA:56425
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Short neck, Orofacial cleft, Downturned corners of mouth, Abnormal tr...	ORPHA:1507
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft palate, Furrowed tongue, High palate...	OMIM:616449
Alagille Syndrome	Telangiectasia of the skin, Ventricular septal defect, Hypertension, Atrial septal defect, Periph...	ORPHA:52
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo...	ORPHA:289
Adenohypophysitis	Orthostatic hypotension, Pallor	ORPHA:95512
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor	OMIM:617675
De Barsy Syndrome	Decreased muscle mass, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ar...	ORPHA:2962
Filippi Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Thin vermilion border, Short phi...	ORPHA:3255
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:615471
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ...	ORPHA:352665
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale	OMIM:614961
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera...	OMIM:608670
Fanconi Anemia, Complementation Group E	Anemic pallor, Abnormal heart morphology	OMIM:600901
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Arrhythmia, Rhabdomyolysis, Myopathy	ORPHA:157
Pyruvate Kinase Deficiency Of Red Cells	Nonimmune hydrops fetalis, Pallor	OMIM:266200
Opitz Gbbb Syndrome	High palate, Atrial septal defect, Patent foramen ovale, Enlarged ovaries, Cleft lip, Patent duct...	ORPHA:2745
X Small Rings	Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Oligohyd...	ORPHA:96201
Distal Deletion 19P	Ventricular septal defect, Cleft palate, Short philtrum, Tricuspid valve prolapse, Umbilical hern...	ORPHA:96129
Familial Mediterranean Fever	Pericarditis, Myocardial infarction, Vasculitis, Erythema, Pedal edema, Arrhythmia, Ascites	ORPHA:342
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi...	OMIM:614114
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation	ORPHA:94125
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph...	OMIM:164280
Panhypophysitis	Orthostatic hypotension, Pallor	ORPHA:95513
Fanconi Anemia, Complementation Group N	Aplastic anemia, Ventricular septal defect, Short neck	OMIM:610832
Bohring-Opitz Syndrome	Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ...	OMIM:605039
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Myelofibrosis	Pallor, Purpura	OMIM:254450
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atresia, Patent foramen ova...	OMIM:620113
Ulnar-Mammary Syndrome	Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f...	ORPHA:3138
Chops Syndrome	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Cryptorchidism, Splenom...	OMIM:616368
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Arrhythmia, Camptodactyly of finger	ORPHA:3201
Prolactinoma	Pallor, Hypotension	ORPHA:2965
Cerebrocostomandibular Syndrome	Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi...	ORPHA:1393
Fanconi Anemia, Complementation Group A	Anemic pallor, Abnormal heart morphology	OMIM:227650
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Fanconi Anemia, Complementation Group C	Flexion contracture, Ventricular septal defect, Anemic pallor	OMIM:227645
Pagod Syndrome	Congenital diaphragmatic hernia, Sudden cardiac death, Situs inversus totalis, Pulmonary artery h...	ORPHA:991
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl...	OMIM:100300
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Ventricular septal defect, Abnormal dental...	ORPHA:1458
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, Eosinophilic infiltrati...	OMIM:615582
Weill-Marchesani Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor...	OMIM:277600
Sotos Syndrome	Ventricular septal defect, High, narrow palate, Muscular ventricular septal defect, Patent ductus...	OMIM:117550
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Bilateral cryptorchidism, C...	OMIM:300998
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Robinow Syndrome	Dental crowding, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Persistence of p...	ORPHA:97360
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect, Macrodontia, Protruding tongue, Diastema, Short neck, Gingival overgro...	OMIM:212066
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Cryptorchidism, Tracheoe...	ORPHA:77298
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle	OMIM:614886
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Thyroid hypoplasia, Ventricular septal defect, Thyroid agenesis, Cryptorchidi...	ORPHA:3047
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Arrhythmia, Dehydration	ORPHA:171876
Cerebrocostomandibular Syndrome	Anal stenosis, Ventricular septal defect, Cleft soft palate, Carious teeth, Cleft lip, Patent duc...	OMIM:117650
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Thyroiditis, Lymphad...	ORPHA:83471
Short Stature-Micrognathia Syndrome	High palate, Ventricular septal defect, Cleft palate, Cryptorchidism	OMIM:617164
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Protruding tongue, Diastema, Cryptorchidism, Thick lower lip vermilion...	OMIM:301040
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Syncope, Palpitations,...	OMIM:170390
Cohen Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the dent...	ORPHA:193
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Type 2 muscle fiber atrophy, Viral infection-i...	ORPHA:99845
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Ventricular septal defect	ORPHA:3078
Localized Scleroderma	Skeletal muscle atrophy, Raynaud phenomenon, Vasculitis, Flexion contracture, Erythema, Myopathy,...	ORPHA:90289
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Abnormal...	ORPHA:209905
Hamamy Syndrome	Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS...	OMIM:611174
Multiple Endocrine Neoplasia Type 2	Proximal amyotrophy, Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheo...	ORPHA:653
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Pallor	ORPHA:90045
Focal Dermal Hypoplasia	Telangiectasia of the skin, Ventricular septal defect, Congenital diaphragmatic hernia, Diastasis...	ORPHA:2092
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Short neck, Cryptorch...	OMIM:616145
Retinitis Pigmentosa 75	Pallor	OMIM:617023
C Syndrome	Ventricular septal defect, Accessory oral frenulum, Cryptorchidism, Patent ductus arteriosus, Wid...	OMIM:211750
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Distal 22Q11.2 Microdeletion Syndrome	Thin upper lip vermilion, Branchial fistula, Ventricular septal defect, High, narrow palate, Pylo...	ORPHA:261330
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Bilateral cr...	OMIM:613457
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Zellweger Syndrome	Thickened nuchal skin fold, Ventricular septal defect, Malabsorption, Pyloric stenosis, Cryptorch...	ORPHA:912
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ...	ORPHA:1519
Pallister-Hall Syndrome	Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Ventricular septal defect,...	OMIM:146510
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia	OMIM:273400
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia, Congenital foot contractures, Limb hypertonia	ORPHA:565624
Teebi-Shaltout Syndrome	Ventricular septal defect, High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Narrow mou...	OMIM:272950
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent d...	OMIM:300712
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, L...	OMIM:619306
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl...	OMIM:178110
Holoprosencephaly	Short neck, Abnormality of the spleen, Deep philtrum, Panhypopituitarism, Encephalocele, Bilatera...	ORPHA:2162
3Mc Syndrome 1	Ventricular septal defect, Dental crowding, Supernumerary nipple, Cleft upper lip, Cleft lip, Pat...	OMIM:257920
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Esophageal atresia, Deep philtrum, Cleft palate, Atrial septal defect	OMIM:610536
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of to...	OMIM:269860
Hardikar Syndrome	Atrial septal defect, Patent foramen ovale, Cleft soft palate, Patent ductus arteriosus, Partial ...	OMIM:301068
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Webbed neck, ...	OMIM:607721
Incontinentia Pigmenti	Pallor, Erythema, Retinal hemorrhage	OMIM:308300
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Rhabdomyolysis, Dry skin, ST segment depression, Hypotension, Abnormal T-w...	ORPHA:466650
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th...	OMIM:142900
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the...	OMIM:102700
Noonan Syndrome	Abnormal pulmonary valve morphology, Lymphedema, Pulmonary artery stenosis, Aplasia/Hypoplasia of...	ORPHA:648
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Anemic pallor, Abnormal heart morphology	OMIM:227646
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Cleft lip, Patent duct...	OMIM:618454
Trichohepatoneurodevelopmental Syndrome	Ventricular septal defect, Dental crowding, Splenomegaly, Patent ductus arteriosus, Downturned co...	OMIM:618268
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Anal stenosis, Ventricular septal defect, Dental crowding, Intestinal malrotation, C...	OMIM:300373
Botulism	Arrhythmia, Xerostomia	ORPHA:1267
Costello Syndrome	Redundant neck skin, Ventricular septal defect, Rhabdomyosarcoma, Polyhydramnios, Achilles tendon...	OMIM:218040
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno...	ORPHA:97297
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious...	ORPHA:96191
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Inter...	ORPHA:163979
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Arrhythmia, Ascites	ORPHA:139411
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Mosaic Trisomy 1	Ventricular septal defect, Increased nuchal translucency, Thick lower lip vermilion, Cleft palate...	ORPHA:1692
Wolcott-Rallison Syndrome	Atrial septal defect, Double outlet right ventricle, Ascites, Dehydration	ORPHA:1667
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul...	OMIM:610978
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dehydration, Hypertension, Bradycardia, Hypotens...	ORPHA:94093
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl...	ORPHA:217085
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Camptodactyly of finger, Erythema, Hypotension, Skin vesicle, Arrhythmia	ORPHA:2135
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Short neck, Cryptorchidism, Deep philtrum, Cleft palate, Downturned co...	ORPHA:251014
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, High, narrow pala...	ORPHA:464738
Foodborne Botulism	Arrhythmia, Xerostomia	ORPHA:228371
Dysosteosclerosis	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology	ORPHA:1782
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Webbed ne...	ORPHA:261337
Mucopolysaccharidosis Type 2	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi...	ORPHA:580
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Macroglossia, Dry skin, Bradycardia	ORPHA:90674
Hypothyroidism Due To Tsh Receptor Mutations	Macroglossia, Bradycardia, Edema	ORPHA:90673
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl...	ORPHA:217093
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Congenital Tracheal Stenosis	Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct...	ORPHA:141127
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula...	OMIM:613001
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Cleft upper lip, ...	OMIM:122470
Mosaic Trisomy 16	Ventricular septal defect, Maternal diabetes, Large placenta, Patent ductus arteriosus, Abnormal ...	ORPHA:1708
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr...	OMIM:620024
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Sh...	ORPHA:466791
Noonan Syndrome 1	Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Chylothora...	OMIM:163950
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr...	OMIM:617063
Letterer-Siwe Disease	Pallor	OMIM:246400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Paten...	ORPHA:464311
Mosaic Trisomy 20	Ventricular septal defect, Cleft lip, Long neck, Dysplastic tricuspid valve, Cryptorchidism, Clef...	ORPHA:1724
Marburg Hemorrhagic Fever	Shock, Pericarditis, Tachycardia, Hypovolemia, Dehydration, Capillary leak, Subconjunctival hemor...	ORPHA:99826
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Trisomy 18	Ventricular septal defect, Spina bifida, Esophageal atresia, Non-midline cleft lip, Cryptorchidis...	ORPHA:3380
Alg9-Cdg	Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the musculature, P...	ORPHA:79328
Cerebellofaciodental Syndrome	Ventricular septal defect, Short neck, Cryptorchidism, Dental malocclusion, Mitral valve prolapse...	OMIM:616202
Fryns Syndrome	Tented upper lip vermilion, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotat...	OMIM:229850
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl...	OMIM:618748
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Facial palsy, Tetralogy o...	ORPHA:508498
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Increased nuchal ...	ORPHA:79345
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu...	OMIM:619534
Tbck-Related Intellectual Disability Syndrome	Tented upper lip vermilion, Ventricular septal defect, Decreased response to growth hormone stimu...	ORPHA:488632
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema	OMIM:606232
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Heart ...	OMIM:614866
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Pulmonary artery st...	OMIM:301030
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor, Hydrops fetalis, Dehydration	OMIM:557000
Encephalitis Lethargica	Upper limb muscle weakness, Bradycardia	ORPHA:83600
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia, Psoriasiform dermatitis	OMIM:106300
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventricular septal d...	ORPHA:2729
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect, Limb hypertonia	OMIM:609460
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Arrhythmia, Rhabdomyosarcoma, Lymphedema	ORPHA:2874
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Tetralogy of ...	OMIM:222470
Hajdu-Cheney Syndrome	Ventricular septal defect, Mitral stenosis, Intestinal malrotation, Abnormality of the dentition,...	ORPHA:955
Elliptocytosis 1	Pallor	OMIM:611804
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Facial palsy, Skin ulcer, Arrhythmia, Cerebral edema	ORPHA:68
Leptospirosis	Pericarditis, First degree atrioventricular block, Rhabdomyolysis, Retinal hemorrhage, Subconjunc...	ORPHA:509
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Diastema, Carious te...	OMIM:244450
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart...	ORPHA:506
Jacobsen Syndrome	Ventricular septal defect, Intestinal malrotation, Spina bifida, Short neck, Pyloric stenosis, Cr...	ORPHA:2308
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Secundum atrial septal ...	OMIM:249420
African Trypanosomiasis	Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular...	ORPHA:3385
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I...	ORPHA:79102
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy...	ORPHA:273
Microphthalmia, Syndromic 2	Oligodontia, Fused teeth, Atrial septal defect, Hypothyroidism, Bifid uvula, Persistence of prima...	OMIM:300166
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C...	ORPHA:373
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancrea...	OMIM:263520
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Aregenerative Anemia	Pallor	ORPHA:101096
Plague	Tachycardia, Edema, Hematemesis, Endocarditis, Skin ulcer, Hypotension, Arrhythmia, Dry skin	ORPHA:707
Oculodentodigital Dysplasia	Arrhythmia, Ventricular septal defect, Camptodactyly of finger	ORPHA:2710
Den Hoed-De Boer-Voisin Syndrome	Dry skin, Ventricular septal defect, Oligohydramnios	OMIM:619229
Donnai-Barrow Syndrome	Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:222448
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Polyhydramnios	OMIM:615503
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Ventricular septal defect, Adrenal hypoplasia, Protruding tongue, High, narr...	OMIM:214100
16P11.2P12.2 Microdeletion Syndrome	Arrhythmia, Tricuspid regurgitation, Camptodactyly of finger	ORPHA:261211
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Short neck, Diastema...	ORPHA:96121
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Coarctation of aorta	ORPHA:268249
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp...	OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Erythema, Mitra...	ORPHA:2556
Apert Syndrome	Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Esophageal atresia, Pylor...	OMIM:101200
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Dry skin, Hypotension	ORPHA:428
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter...	ORPHA:464306
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Deep p...	OMIM:613884
Orofaciodigital Syndrome Type 14	Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Short neck, Bilateral cr...	ORPHA:434179
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Aortic isthm...	OMIM:180849
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Arrhythmia, Redundant skin	OMIM:250220
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Patent ductus arteriosus, Bradycardia	OMIM:617248
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis	ORPHA:529962
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Trichothiodystrophy	Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Dry skin	ORPHA:33364
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:619575
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal tr...	ORPHA:3472
Orofaciodigital Syndrome Xiv	Natal tooth, Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Cleft lip, ...	OMIM:615948
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Cleft lip, Patent ductus arteriosus, Cryptorchidism, Furrowed tongue, ...	OMIM:616975
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, P...	ORPHA:1465
Oculodentodigital Dysplasia	Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger	OMIM:164200
Marshall-Smith Syndrome	Ventricular septal defect, Patent ductus arteriosus, Premature ventricular contraction, Hypertens...	OMIM:602535
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Wide mouth, Duodenal atresia	OMIM:617798
Duane-Radial Ray Syndrome	Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep...	OMIM:607323
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Arrhythmia	ORPHA:2878
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At...	OMIM:619472
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se...	OMIM:210710
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Arrhythmia, Camptodactyly of finger	ORPHA:3220
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Larsen Syndrome	Ventricular septal defect, Cleft upper lip, Cryptorchidism, Cleft palate, Hypodontia, Atrial sept...	OMIM:150250
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Abnormal dental enamel morphology, Aganglionic megacolon, Abnormal den...	ORPHA:818
Chromosome 16P13.3 Duplication Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Short neck, Cryp...	OMIM:613458
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Hajdu-Cheney Syndrome	Ventricular septal defect, Intestinal malrotation, Short neck, Cryptorchidism, Patent ductus arte...	OMIM:102500
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Ventricular septal defect, Splenomegaly, Lymphadenopathy, High palate, Polysple...	OMIM:619418
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Eosinophilia, Spina bifida, Pancreatic cysts, Thrombocytopenia, Patent...	OMIM:274000
Zttk Syndrome	Absent gallbladder, Ventricular septal defect, Abnormality of the dentition, Patent ductus arteri...	OMIM:617140
Williams Syndrome	Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Abnormal cerebral vas...	ORPHA:904
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a...	ORPHA:353281
Holoprosencephaly 14	Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl...	OMIM:619895
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor...	ORPHA:444077
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios	OMIM:600373
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect...	OMIM:143095
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Spina bifida, Cleft lip, Myelomeningocele, Anencephaly,...	ORPHA:2369
Charge Syndrome	Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi...	OMIM:214800
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia, Edema, Dehydration	ORPHA:79404
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Coarctation of aorta, Webbed neck, Mus...	ORPHA:1772
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Arrhythmia	OMIM:171480
Keutel Syndrome	Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Peripher...	OMIM:245150
Jacobsen Syndrome	Ventricular septal defect, Short neck, Pyloric stenosis, Cryptorchidism, Annular pancreas, Atrial...	OMIM:147791
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Congestive heart failure, Flexion...	OMIM:256040
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P...	ORPHA:508488
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Submucous clef...	ORPHA:2461
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Varicose veins	OMIM:617107
Hypothyroidism, Congenital, Nongoitrous, 2	Macroglossia, Dry skin, Bradycardia	OMIM:218700
Diets-Jongmans Syndrome	Interrupted inferior vena cava with azygous continuation, Polyhydramnios, Ventricular septal defe...	OMIM:618846
Renpenning Syndrome 1	Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Situs inversus totalis, Cleft p...	OMIM:309500
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am...	OMIM:616268
Liver Disease, Severe Congenital	Pulmonary edema, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Patent ductus ...	OMIM:619991
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Ventricular septal defect, Complete atrioventricular canal de...	OMIM:236680
Ivic Syndrome	Arrhythmia	ORPHA:2307
Pallister-Hall Syndrome	Adrenal hypoplasia, Gonadotropin deficiency, Atrial septal defect, Atrioventricular canal defect,...	ORPHA:672
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag...	ORPHA:363958
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Abnormality of the gingiva, Absent cupid'...	ORPHA:513456
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Partial anomalous pulmonary...	OMIM:301044
Wolf-Hirschhorn Syndrome	Accessory spleen, Ventricular septal defect, Cleft upper lip, Precocious puberty, Cryptorchidism,...	OMIM:194190
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Ventricular septal defect, Interphalangeal joint contracture of finger, Dias...	ORPHA:96334
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Dilatation of the ventricula...	ORPHA:459070
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,...	ORPHA:353277
Mowat-Wilson Syndrome	Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pulmonary artery sli...	OMIM:235730
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Polyhydramnios, Skeletal ...	ORPHA:800
Kabuki Syndrome 1	Hemolytic anemia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Premature the...	OMIM:147920
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Aganglionic megacolon, Cleft upper lip, Velopharyngeal insufficiency, ...	OMIM:154400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri...	OMIM:271640
Coffin-Siris Syndrome 1	Conical tooth, Short philtrum, High palate, Atrial septal defect, Microdontia, Spina bifida occul...	OMIM:135900
Microphthalmia, Syndromic 3	Ventricular septal defect, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Esophage...	OMIM:206900
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he...	ORPHA:268261
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Dental crowding, Aganglionic megacolon, Intestinal malrotation, Precoc...	OMIM:270400
Femoral-Facial Syndrome	Thin upper lip vermilion, Ventricular septal defect, Maternal diabetes, Cryptorchidism, Cleft pal...	OMIM:134780
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, ...	OMIM:607872
Woodhouse-Sakati Syndrome	Abnormal T-wave, Scaling skin	ORPHA:3464
Alagille Syndrome 1	Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def...	OMIM:118450
Yellow Fever	Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio...	ORPHA:99829
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m...	ORPHA:500095
Peters-Plus Syndrome	Short lingual frenulum, Bilobate gallbladder, Short neck, Anteriorly placed anus, Conical incisor...	OMIM:261540
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos...	OMIM:194050
Omodysplasia 1	Ventricular septal defect, Short neck, Cryptorchidism, Pulmonary artery stenosis, Long philtrum, ...	OMIM:258315
Cockayne Syndrome A	Hip contracture, Hypertension, Arrhythmia, Dry skin, Persistent left superior vena cava	OMIM:216400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed...	OMIM:619475
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Facial edema, Macroglossia, Bradycardia	ORPHA:226307
Ulnar-Mammary Syndrome	Elbow flexion contracture, Arrhythmia, Ventricular septal defect	OMIM:181450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Anomalous origin of l...	ORPHA:438213
Cornelia De Lange Syndrome	Delayed eruption of teeth, Ventricular septal defect, Intestinal malrotation, Short neck, Pyloric...	ORPHA:199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor, Muscular dystrophy	OMIM:253280
Goodpasture Syndrome	Pallor, Pulmonary hemorrhage	OMIM:233450
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Carious teeth, Spleno...	ORPHA:744
Congenital Disorder Of Glycosylation, Type Iiw	Ventricular septal defect, Microcytic anemia, Thrombocytopenia, Supernumerary tooth, Splenomegaly...	OMIM:619525
Woodhouse-Sakati Syndrome	Abnormal T-wave	OMIM:241080
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Arthrogryposis multiplex congenita, Arrhythmia	ORPHA:163746
Stickler Syndrome	Macroglossia, Skeletal muscle atrophy, Arrhythmia, Mitral valve prolapse	ORPHA:828
Cockayne Syndrome B	Hypertension, Arrhythmia, Dry skin	OMIM:133540
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aor...	ORPHA:285
Early Infantile Epileptic Encephalopathy	Precocious puberty, Umbilical hernia, Ventricular septal defect, Cleft palate	ORPHA:1934
Proboscis Lateralis	Ventricular septal defect, Agenesis of canine, Patent ductus arteriosus, Orofacial cleft, High pa...	ORPHA:141099
Johanson-Blizzard Syndrome	Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A...	OMIM:243800
Sarcoidosis	Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Heart block, Ventricula...	ORPHA:797
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Dental crowding, Cleft hard palate, Asplenia, Short philtrum, Abnormality ...	ORPHA:261552
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Ventricular septal defect, Carious teeth, Cryptorchidism, Patent ductus arteriosus, Downturned co...	OMIM:619522
Craniotubular Dysplasia, Ikegawa Type	Thick upper lip vermilion, Thick lower lip vermilion, Ventricular septal defect, Long philtrum	OMIM:619727
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Ca...	OMIM:216340
Penile Agenesis	Atrial septal defect, Ventricular septal defect, Oligohydramnios	ORPHA:49
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Cleft upper lip, Short neck, Cryptorchidism, Patent ...	OMIM:268300
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Thin upper lip vermilion, Ventricular septal defect, Short neck, High palate, Long philtrum, Umbi...	OMIM:620330
Pallister-Killian Syndrome	Tented upper lip vermilion, Short neck, Webbed neck, Anteriorly placed anus, Atrial septal defect...	OMIM:601803
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cl...	OMIM:164210
Genitopatellar Syndrome	Delayed eruption of teeth, Anal stenosis, Ventricular septal defect, Cryptorchidism, Malrotation ...	OMIM:606170
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Tracheoesophagea...	OMIM:107480
Sotos Syndrome	Hip contracture, Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, ...	ORPHA:821
Doors Syndrome	Double outlet right ventricle, Polyhydramnios	ORPHA:79500
Colorectal Cancer, Susceptibility To, 3	Colon cancer	OMIM:612229

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 Smad7

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 Smad7.

No publications found that use IMPC mice or data for Smad7.

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
Smad7^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, 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

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