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Gene: Mrtfb MGI:3050795

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myocardin related transcription factor B
Synonyms:
Gt4-1,  MRTF-B,  Mkl2,  Mrtfb

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 Mrtfb mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... OMIM:620294
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extrac... ORPHA:229
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Cardiomyopathy, Dilated, 1Ff
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613286
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor... OMIM:617478
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Cardiomyopathy, Dilated, 1B
Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra... OMIM:600884
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
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
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure, Death in infancy OMIM:212080
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm ORPHA:261102
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck OMIM:601355
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Scimitar Syndrome
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... ORPHA:185
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Periventricular Nodular Heterotopia
Aortic regurgitation, Patent ductus arteriosus, Abnormal bleeding, Aortic aneurysm ORPHA:98892
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Congenital Gerbode Defect
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... ORPHA:99095
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Atrial fibrillation OMIM:616166
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... OMIM:601927
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... ORPHA:980
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, Abnormal aortic morphology, Webbed neck, Truncus arteriosus ORPHA:2516
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon... OMIM:618845
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... OMIM:616589
Fibromuscular Dysplasia, Arterial
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... OMIM:135580
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Aortic Valve Disease 2
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... OMIM:614823
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Respiratory insufficiency, V... ORPHA:2924
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ... ORPHA:3426
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Takayasu Arteritis
Myocardial infarction, Vascular dilatation, Vasculitis, Arterial stenosis, Ascending tubular aort... ORPHA:3287
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Aneurysm Of Interventricular Septum
Vascular dilatation OMIM:105805
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Abnormal onset of bleeding, Stroke, Cerebral ischemia ORPHA:3325
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Telangiectasia, Hereditary Benign
Diffuse telangiectasia, Vascular dilatation OMIM:187260
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Spontaneous pneumothorax, Chronic pulmonary obstruction, Ascending tubular ... OMIM:619825
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... OMIM:618052
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Igg4-Related Aortitis
Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morphology, Ascending tubular aorta aneury... ORPHA:449400
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... OMIM:620067
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Pulmonary embolism, Venous ... ORPHA:90308
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... ORPHA:2326
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Combined Oxidative Phosphorylation Deficiency 17
Death in infancy, Hypertrophic cardiomyopathy, Congestive heart failure, Death in childhood OMIM:615440
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... OMIM:126320
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Congenital Disorder Of Glycosylation, Type Ih
Edema, Short neck, Patent ductus arteriosus, Perimembranous ventricular septal defect, Camptodact... OMIM:608104
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong... OMIM:614473
Microphthalmia, Syndromic 9
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Coarctation of aort... OMIM:601186
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... OMIM:265380
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Increased QRS voltage, Heart mur... ORPHA:3093
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... OMIM:175050
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction, Premature coronary artery atherosc... OMIM:615703
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection, Aortic valve stenosis OMIM:618496
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck OMIM:615583
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Heart And Brain Malformation Syndrome
Polyhydramnios, Ventricular septal defect, Interrupted aortic arch OMIM:616920
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... OMIM:300845
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Rin2 Syndrome
Umbilical hernia, Bruising susceptibility, Aortic aneurysm ORPHA:217335
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... OMIM:600001
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas... OMIM:614876
Peripartum Cardiomyopathy
Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn... ORPHA:563
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Low posterior hairline, ... OMIM:220210
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Low posterior hairline, Joint contracture of... OMIM:179613
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... ORPHA:275766
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T... OMIM:192430
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Emanuel Syndrome
Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Truncus arteriosus, Delayed e... OMIM:609029
Sandhoff Disease
Cherry red spot of the macula, Congestive heart failure ORPHA:796
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation OMIM:226100
Non-Involuting Congenital Hemangioma
Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie... ORPHA:141179
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Acrocardiofacial Syndrome
Death in infancy, Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal... ORPHA:2008
Temtamy Syndrome
Aortic regurgitation, Aortic aneurysm OMIM:218340
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of the great arteri... OMIM:617877
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Stroke, Bacterial endocardit... ORPHA:1054
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Cardiac Valvular Dysplasia 1
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... OMIM:212093
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta OMIM:601612
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Stroke-like episode, Abnormal left vent... OMIM:540000
Loeys-Dietz Syndrome 6
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... OMIM:619656
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Patent ductus arteriosus, Muscular ventricular septal defect, Abnormal heart... ORPHA:363444
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ... ORPHA:3405
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Cardiomegaly, Myocardial infarction, Carotid artery calcification,... OMIM:208000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... ORPHA:2414
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Fragile X Syndrome
Ascending tubular aorta aneurysm, Sinusitis ORPHA:908
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie... ORPHA:141184
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly, Shor... OMIM:618804
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congesti... ORPHA:3342
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Infantile Sialic Acid Storage Disease
Cardiomegaly, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Death in childhood, Ascites OMIM:269920
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... ORPHA:363705
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Vascular ring, Mitral regurgitation, Atrial septal defect OMIM:603387
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Oligohydr... ORPHA:163596
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Dilatation of the ventricular c... OMIM:615745
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Emanuel Syndrome
Delayed eruption of teeth, Redundant neck skin, Ventricular septal defect, Truncus arteriosus, Pa... ORPHA:96170
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Snijders Blok-Campeau Syndrome
Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... OMIM:616276
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Abnormal circulating enzyme concentration or activity, Congestive heart failur... ORPHA:1900
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr... OMIM:306955
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arteriovenous malformation,... ORPHA:137667
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement... ORPHA:57777
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios ORPHA:1909
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Congestive hear... OMIM:255160
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Hydrocephalus, Cardiomegaly OMIM:300886
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Cough, Vasculitis, Cerebral ischemia, Aortic disse... ORPHA:397
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hy... OMIM:619751
Loeys-Dietz Syndrome 4
Torticollis, Arterial tortuosity, Pneumothorax, Ascending tubular aorta aneurysm, Aortic root ane... OMIM:614816
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Webbed neck, Atrial ... OMIM:618316
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Osteogenesis Imperfecta, Type I
Bruising susceptibility, Aortic aneurysm OMIM:166200
Pseudoxanthoma Elasticum
Thickened nuchal skin fold, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the s... ORPHA:758
Lambert Syndrome
Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia ORPHA:1296
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Stroke, Death in childhood, H... OMIM:611126
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Congenital Contractural Arachnodactyly
Aortic aneurysm ORPHA:115
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh... ORPHA:97339
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Loeys-Dietz Syndrome
Abnormal bleeding, Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissecti... ORPHA:60030
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Ventricular hypertrophy, Bradycardia, Congestive heart failure OMIM:619048
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot ORPHA:217
Macs Syndrome
Prolonged bleeding time, Dilation of Virchow-Robin spaces, Bronchiectasis, Umbilical hernia, Brui... OMIM:613075
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Aortic aneurysm OMIM:620070
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... ORPHA:228116
Chondrodysplasia, Blomstrand Type
Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctation of the aorta OMIM:215045
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy ORPHA:206546
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:608099
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Polyhydramnios OMIM:616794
Cutis Laxa, Autosomal Recessive, Type Ia
Vascular tortuosity, Ascending tubular aorta aneurysm, Umbilical hernia, Emphysema, Supravalvular... OMIM:219100
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... OMIM:176670
Butyrylcholinesterase Deficiency
Congestive heart failure, Myocardial infarction ORPHA:132
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double... OMIM:618164
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... ORPHA:90307
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Patent ductus arter... OMIM:619351
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... OMIM:264800
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Heart murmur, Coarctation of aorta, Hypertension, Asc... ORPHA:402075
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... OMIM:270100
Transaldolase Deficiency
Edema, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Telangiectasia, Atrial s... ORPHA:101028
Cednik Syndrome
Congestive heart failure, Stroke ORPHA:66631
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Heart murmur, Perimembranous ven... OMIM:158170
Seckel Syndrome 10
Elevated circulating aspartate aminotransferase concentration, Congestive heart failure, Elevated... OMIM:617253
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Vascular dilatation OMIM:614859
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios OMIM:615731
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Orthop... ORPHA:365
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Abnormal pulmonary valve morphology, Congestive heart failure, Abnormal aortic ... ORPHA:1194
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Hypertrophic cardiomy... ORPHA:330001
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Heart murmur, Intracranial he... ORPHA:163979
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Hemochromatosis, Type 2A
Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:602390
Alport Syndrome
Dyspnea, Renal glomerular foam cells, Stridor, Hypertension, Abnormal aortic morphology, Cough, A... ORPHA:63
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis OMIM:618624
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Myocardial infarction, Congestive heart failure, Hydrocephalus, Hypertension... ORPHA:90065
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Hydrocephalus, Interrupted aortic arch ORPHA:250989
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Persistent left superior vena cava, Pulmonic stenosis OMIM:609008
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Congestive heart failure, Patent ductus arteriosus, Cardiomyopathy... OMIM:616866
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Monosomy 18Q
Left-to-right shunt, Left aortic arch with right descending aorta and right ductus arteriosus, Pa... ORPHA:1600
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete... ORPHA:1329
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short neck, Tachypnea, Hypertension, Pulmonary arterial hypertension, Vascular dilatation OMIM:613320
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Stroke-like episode, Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal heart morpho... ORPHA:70472
Renal Tubular Dysgenesis
Tetralogy of Fallot, Polyhydramnios, Oligohydramnios ORPHA:3033
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy ORPHA:324588
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Epidermal Nevus Syndrome
Aortic aneurysm ORPHA:35125
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Atrial septal defect, Truncus... ORPHA:261330
Mulibrey Nanism
Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Pericardial constri... OMIM:253250
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Subcutaneou... ORPHA:109
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Abnormal aor... ORPHA:1166
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Interrup... OMIM:164280
Cap Myopathy
Aortic root aneurysm, Central hypoventilation, Reduced systolic function, Sinus tachycardia ORPHA:171881
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Dy... ORPHA:2038
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Hydrocephalus, Anoma... ORPHA:244
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Perlman Syndrome
Ascites, Polyhydramnios, Interrupted aortic arch, Edema OMIM:267000
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Gm1-Gangliosidosis, Type I
Death in infancy, Abnormal heart valve morphology, Short neck, Congestive heart failure, Dilated ... OMIM:230500
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Polyhydramnios, Coarctation of aorta ORPHA:1923
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Purpura, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:745
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Short neck, Patent ductus arteriosus, Pleural effusion... OMIM:615355
Fabry Disease
Transient ischemic attack, Angina pectoris, Myocardial infarction, Lymphedema, Congestive heart f... OMIM:301500
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation, Endoca... OMIM:212140
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Arrhythmia, Congestive heart failure ORPHA:157973
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Hydroceph... ORPHA:2306
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Congestive heart failure, Polyhydramnios ORPHA:500533
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular ta... OMIM:605676
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa... ORPHA:17
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Hepatomegaly, Elevated hepatic transaminase, Portal hyper... OMIM:216360
Alkaptonuria
Coronary artery calcification, Aortic aneurysm OMIM:203500
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Abnormal left ventricular functio... OMIM:301056
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Short neck, Secundum atrial septal defect, Congestive heart failure, Per... OMIM:608779
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Subcutaneous hem... ORPHA:743
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Gastritis, Familial Giant Hypertrophic
Vascular dilatation OMIM:137280
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Lateral Meningocele Syndrome
Short neck, Patent ductus arteriosus, Meningocele, Umbilical hernia, Aortic aneurysm OMIM:130720
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Recurrent pneumonia, Coarctation of aorta OMIM:616069
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Predominantly lower limb lymphedema, Low posterior hairline, Short neck ORPHA:261519
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Hydrocephalus OMIM:614886
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Spina... ORPHA:508498
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Patent duc... OMIM:618652
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... ORPHA:2876
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Pulmonic stenosis, Aortic dissection, Bruising susceptibility, Vascular dilatation OMIM:618343
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Hemochromatosis, Type 1
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia, Pleural effus... OMIM:235200
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vascular dilatation OMIM:617219
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Meester-Loeys Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... OMIM:300989
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation OMIM:619910
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Spontaneous pneumothorax, Arterial tortuosity, Descending thoracic aorta an... OMIM:610168
Diabetic Embryopathy
Ventricular septal defect, Hydrocephalus, Tetralogy of Fallot, Spinal dysraphism, Abnormality of ... ORPHA:1926
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
American Trypanosomiasis
Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia ORPHA:3386
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Mitral regurgitation ORPHA:83473
Boudin-Mortier Syndrome
Aortic root aneurysm, Elevated alkaline phosphatase of bone origin OMIM:619543
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Halperin-Birk Syndrome
Umbilical hernia, Perimembranous ventricular septal defect, Flexion contracture, Congenital diaph... OMIM:618651
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus OMIM:614846
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation ORPHA:53721
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect OMIM:613870
22Q11.2 Deletion Syndrome
Polyhydramnios, Short neck, Abnormal aortic arch morphology, Atrial septal defect, Spina bifida, ... ORPHA:567
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Autosomal Recessive Multiple Pterygium Syndrome
Neonatal respiratory distress, Low posterior hairline, Webbed neck, Umbilical hernia, Spina bifid... ORPHA:2990
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Noonan Syndrome 9
Ventricular septal defect, Short neck, Coarctation of aorta, Pulmonic stenosis, Webbed neck OMIM:616559
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... ORPHA:2847
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial tortuosity, Patent ductus arteriosus, Mitral ... ORPHA:284984
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy OMIM:606703
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... OMIM:613795
Analbuminemia
Hypotension, Patent ductus arteriosus, Edema, Oligohydramnios OMIM:616000
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Arteriovenous malformation ORPHA:137608
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia, Vascular dilatation ORPHA:221098
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Advanced eruption of teeth, Hypertrophic cardiomyopathy, Coronary arter... ORPHA:2348
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation OMIM:617056
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Polyhydramnios ORPHA:3469
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Short neck, Cardiomegaly, Secundum atrial septal defe... OMIM:300855
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
X-Linked Intellectual Disability, Nascimento Type
Broad neck, Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, L... ORPHA:163956
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Prominent veins on trunk, Hypertension, Hypertrophic cardiomyopathy, Co... ORPHA:79083
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Stillbirth, Edema, Pedal edema OMIM:152800
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Mitral regurgitation OMIM:301039
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida ORPHA:2476
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Congestive heart failure, Dilated... ORPHA:367
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Carotid artery stenosis, Short neck, Low posterior hairline, Aortic ... OMIM:618000
Classic Multiminicore Myopathy
Right ventricular failure, Congestive heart failure, Mitral valve prolapse, Limited neck flexion,... ORPHA:324604
Chromosome 18Q Deletion Syndrome
Short neck, Congestive heart failure, Patent ductus arteriosus, Asthma, Ascending tubular aorta a... OMIM:601808
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, Heart murmur, Hypoxemia, Ascending tubula... ORPHA:284979
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Ventricular septal defect, Short neck, Complete atri... ORPHA:508488
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal d... OMIM:619534
Kawasaki Disease
Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Jaundice, Hepatitis, Ascending t... ORPHA:2331
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Stroke ORPHA:3077
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Patent ductus arte... OMIM:606003
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Thoracic aortic aneurysm, Repeated pneumothoraces, Respiratory... ORPHA:536467
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Umbilical hernia, Bruising susceptibi... ORPHA:536545
Charge Syndrome
Aortic arch aneurysm, Delayed eruption of teeth, Polyhydramnios, Aqueductal stenosis, Patent duct... ORPHA:138
Down Syndrome
Thickened nuchal skin fold, Redundant neck skin, Ventricular septal defect, Complete atrioventric... OMIM:190685
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle, Ascites, Dehydration ORPHA:1667
Ehlers-Danlos Syndrome, Classic Type, 1
Umbilical hernia, Aortic root aneurysm, Bruising susceptibility, Recurrent sinusitis OMIM:130000
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Macroglossia, Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Ventricular septal defect OMIM:613730
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Arterial Tortuosity Syndrome
Aortic regurgitation, Carotid artery dissection, Pulmonary artery stenosis, Hypertension, Aortic ... OMIM:208050
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Redundant neck skin, Congestive heart failure, Dilatation of the ventricula... ORPHA:90348
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... ORPHA:774
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:3097
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic failure, Int... ORPHA:49566
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... OMIM:609040
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Raynaud phenomenon, Moyamoya phenomenon, Calcification of the aort... ORPHA:51
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Myocardial infarction, Hypertrophic cardiomyopathy, Pulmonic stenosis, Webbe... ORPHA:500
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Visceral Myopathy, Familial, With External Ophthalmoplegia
Vascular dilatation OMIM:277320
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Tuberous Sclerosis Complex
Respiratory distress, Hypertension, Respiratory failure, Pulmonary lymphangiomyomatosis, Internal... ORPHA:805
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jugular vein morp... ORPHA:1677
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Polyhydramnios, Hydrocephalus, Transposition of the great arteries, Neonatal death,... OMIM:314390
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Increased nuchal translucency, H... OMIM:615668
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts OMIM:263630
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Vascu... ORPHA:2637
Wells Syndrome
Vasculitis, Eosinophilia, Edema ORPHA:901
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly OMIM:266500
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... OMIM:613327
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Neonatal respiratory distress, Aortopulmonary collateral arteries, Aortopulmonary w... OMIM:620025
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Vascular dilatation, Congestive heart failure, Dilatation ... ORPHA:90349
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Loeys-Dietz Syndrome 1
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... OMIM:609192
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... OMIM:249270
Atransferrinemia
Congestive heart failure OMIM:209300
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Coarctation of aorta OMIM:620210
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy... ORPHA:99901
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm OMIM:309520
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... OMIM:614921
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Dilated cardiomyopathy, Ventricular septal defect, Edema OMIM:607598
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ... ORPHA:183
Gm1 Gangliosidosis
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Hydrops fetalis, A... ORPHA:354
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... ORPHA:261311
Digeorge Syndrome
Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Umbilical hernia, T... OMIM:188400
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ... OMIM:123700
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... ORPHA:97214
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia ORPHA:85446
Marfan Syndrome
Spontaneous pneumothorax, Congestive heart failure, Descending aortic dissection, Meningocele, Em... ORPHA:558
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Short neck, Muscular ventricular septal defect, Pate... OMIM:612474
Shprintzen-Goldberg Craniosynostosis Syndrome
Umbilical hernia, Aortic aneurysm OMIM:182212
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Abnormal atrioventricular conduction, Precocious atherosclerosis, Su... ORPHA:280365
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Short neck ORPHA:2001
7Q11.23 Microduplication Syndrome
Short neck, Patent ductus arteriosus, Tracheomalacia, Aortic valve stenosis, Aortic aneurysm ORPHA:96121
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... ORPHA:210122
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4t... OMIM:618223
Mucopolysaccharidosis-Plus Syndrome
Short neck, Congestive heart failure, Patent ductus arteriosus, Low posterior hairline, Death in ... OMIM:617303
Blau Syndrome
Pericarditis, Dyspnea, Large vessel vasculitis, Hypertension, Abnormality of the liver, Pulmonary... ORPHA:90340
Senior-Loken Syndrome 8
Vascular dilatation, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Patent ductus arteriosus, Atrial... ORPHA:290
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Ventricular septal defect... OMIM:208085
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmi... ORPHA:75249
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Short neck, Patent ductus arteriosus, Increased nucha... OMIM:616564
Alg3-Cdg
Cardiomyopathy, Neural tube defect, Coarctation of the descending aortic arch ORPHA:79321
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Large placenta, Abnormal heart morphology, Umbilical ... ORPHA:254534
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... OMIM:616843
Ventriculomegaly With Defects Of The Radius And Kidney
Vascular dilatation OMIM:602200
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Prominent superficial veins, Low posterior... ORPHA:528
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hype... OMIM:615279
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Immune-Mediated Necrotizing Myopathy
Raynaud phenomenon, Myocarditis, Palpitations, Congestive heart failure ORPHA:206569
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Hypoplastic left h... OMIM:301043
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Fumarase Deficiency
Ascites, Perimembranous ventricular septal defect, Polyhydramnios OMIM:606812
Systemic Sclerosis
Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Myocarditis... ORPHA:90291
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Dyspnea, Hypoxemia, Exertional dyspnea, E... ORPHA:199241
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Abnormal heart mo... OMIM:618494
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Dyspnea, Aortic root aneurysm, Mitral regurgitatio... ORPHA:230851
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Broad neck, Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Short neck, Paten... OMIM:617506
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Werner Syndrome
Miscarriage, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vascular morpho... ORPHA:902
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Hypertension, Aortic root aneurysm, Dilatation of the cerebral artery, ... ORPHA:730
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Prune Belly Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, O... ORPHA:2970
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Short neck, Patent ductus arteriosus, Hydrocephalus, Death in childhoo... OMIM:612938
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri... ORPHA:2345
Cerebellar-Facial-Dental Syndrome
Ascending tubular aorta aneurysm, Abnormal T-wave, Short neck ORPHA:444072
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Intrahepatic biliary atresia, Camptodactyly OMIM:614815
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Vascular dilatation, Cough ORPHA:2314
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Vasculitis, ... ORPHA:33226
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... ORPHA:70591
Larsen Syndrome
Tracheomalacia, Spina bifida occulta, Aortic aneurysm OMIM:150250
8P23.1 Microdeletion Syndrome
Short neck, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abn... ORPHA:251071
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Jau... OMIM:613404
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart OMIM:618142
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Hydrops fetalis OMIM:609015
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Short neck, Congestive heart failure, Arteriosclerosis of small cerebr... ORPHA:1830
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Flexion contra... OMIM:180849
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Congenital muscular torticollis, Truncus arteriosus ORPHA:2538
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Shor... OMIM:605275
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Polyhydramnios, Ventricular septal defect, Vascular dilatation OMIM:219730
Klippel-Feil Syndrome 2, Autosomal Recessive
Limited neck range of motion, Ventricular septal defect, Low posterior hairline, Short neck OMIM:214300
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Congestive heart failure ORPHA:52430
Fryns Syndrome
Thickened nuchal skin fold, Polyhydramnios, Short neck, Abnormal aortic arch morphology, Abnormal... ORPHA:2059
Holoprosencephaly 14
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... OMIM:619895
Babesiosis
Congestive heart failure, Myocardial infarction ORPHA:108
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Ascending tubular aorta aneurysm, Branchial anomaly, Pleural effus... ORPHA:453499
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Ventricular septal defect OMIM:618506
Fontaine Progeroid Syndrome
Prominent superficial veins, Tricuspid regurgitation, Patent ductus arteriosus, Pneumothorax, Res... OMIM:612289
Vascular Ehlers-Danlos Syndrome
Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous fistula, Respiratory insufficien... ORPHA:286
Aarskog-Scott Syndrome
Delayed eruption of teeth, Umbilical hernia, Congestive heart failure, Short neck ORPHA:915
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Death in infancy, Congestive heart failure, Cerebral edema OMIM:619355
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Contractural Arachnodactyly, Congenital
Mitral regurgitation, Patent ductus arteriosus, Aortic root aneurysm, Short neck OMIM:121050
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Aortic root aneurysm ORPHA:449291
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Charge Syndrome
Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Paten... OMIM:214800
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Ventricular septal defect, Spleno... OMIM:614576
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... ORPHA:727
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Short neck ORPHA:2328
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... ORPHA:71273
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Symptomatic Form Of Hfe-Related Hemochromatosis
Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Joint swelling, Arrh... ORPHA:465508
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Congestive heart failure, Pleural empyema, Constrictive pericard... ORPHA:67
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Increased nuchal translucency, Branchial anomaly, Nocturnal hypoventilation, Cystic hygroma, Aort... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Increased nuchal translucency, Branchial anomaly, Nocturnal hypoventilation, Cystic hygroma, Aort... ORPHA:352665
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... ORPHA:391665
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Atrial septal ... OMIM:619769
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Pneumothorax, Right bundle branch block, Ascending tubular aorta aneury... OMIM:617403
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic fai... OMIM:615630
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Short neck, Cardiomegaly, H... OMIM:617022
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuosity, Bradycardi... OMIM:614437
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Abnormal cardiomyocyte morphology, Cardiomyopathy, Renal artery atherosclerosis,... ORPHA:565612
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... ORPHA:488618
3C Syndrome
Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Short neck, Hydroc... ORPHA:7
Immunodeficiency 23
Allergic rhinitis, Asthma, Bronchiectasis, Aortic root aneurysm, Vasculitis in the skin OMIM:615816
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries, Short neck OMIM:616789
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus OMIM:218350
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... OMIM:619472
Alstrom Syndrome
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Atherosclerosis OMIM:203800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Short neck, Congestive heart failure, Patent ductus arterio... ORPHA:505248
Osteogenesis Imperfecta
Delayed eruption of teeth, Aortic regurgitation, Neonatal respiratory distress, Cerebral hemorrha... ORPHA:666
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati... OMIM:608328
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Transient isch... ORPHA:324
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucency, Patent ductus ... OMIM:618870
Frank-Ter Haar Syndrome
Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola... OMIM:249420
Diamond-Blackfan Anemia 7
Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Patent ductus arteriosu... OMIM:612562
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery stenosis, Subvalvular aort... OMIM:280000
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:500159
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Intraventricular hemorrhage, Cardiomyopathy, Pulmonic stenosis, Tracheomalacia, Aor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Intraventricular hemorrhage, Cardiomyopathy, Pulmonic stenosis, Tracheomalacia, Aor... ORPHA:363958
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Bile duct proliferation, Atri... OMIM:611134
Teebi Hypertelorism Syndrome 1
Natal tooth, Aortic root aneurysm OMIM:145420
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Fanconi Anemia, Complementation Group B
Death in infancy, Ventricular septal defect, Short neck, Patent ductus arteriosus, Hydrocephalus,... OMIM:300514
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Emphysema, Pneumothorax,... OMIM:154700
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... ORPHA:75565
Aase-Smith Syndrome I
Death in infancy, Hydrocephalus, Ventricular septal defect OMIM:147800
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogenic shock, ... ORPHA:31824
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Abnormal heart morphology, Atri... ORPHA:314588
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Hyperkalemic Periodic Paralysis
Death in infancy, Arrhythmia, Death in early adulthood, Congestive heart failure ORPHA:682
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Repeated pneumothoraces, Coarctation of aorta OMIM:617602
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Aortic arch aneurysm, Hepatomegaly, Patent ductus arteriosus, Cardiomy... OMIM:135500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Congestive heart failure, Jaund... OMIM:619475
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Abnormal heart valve morphology, Short neck, Congestive heart failure,... OMIM:309900
Scorpion Envenomation
Bundle branch block, Tachycardia, Edema, Cardiac conduction abnormality, Myocarditis, Congestive ... ORPHA:466677
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension, Aortic root aneurysm, Bruising susceptibility OMIM:616914
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thickened nuchal skin fold, Death in infancy, Redundant neck skin, Ventricular septal defect, Pol... OMIM:235255
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Nonimmune hydrops fetalis OMIM:166210
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, P... ORPHA:2519
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Left ven... ORPHA:746
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Congenital Tracheal Stenosis
Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct... ORPHA:141127
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Tachycardia, Ventricular sept... ORPHA:26793
Kagami-Ogata Syndrome
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:608149
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co... ORPHA:1335
Relapsing Polychondritis
Pericarditis, Myocarditis, Dyspnea, Hepatitis, Large vessel vasculitis, Cough, Abnormal pattern o... ORPHA:728
X Small Rings
Aortic root aneurysm, Mitral stenosis, Low posterior hairline, Short neck ORPHA:96201
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve OMIM:617751
Pediatric-Onset Graves Disease
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia, Oli... ORPHA:525731
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... ORPHA:335
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Hydrocephalus, Telangiectasia, A... OMIM:612582
Trisomy 1Q
Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosu... ORPHA:261344
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Short neck, Cardiomegaly, Hydrops fetalis, Pleural eff... OMIM:616897
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries, Ectopi... OMIM:313850
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Palpable purpura, Pneumonia, Raynaud phenomenon, Cardiomyop... ORPHA:48435
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
Char Syndrome
No permanent dentition, Patent ductus arteriosus, Ventricular septal defect, Persistence of prima... ORPHA:46627
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Persistence of primary teeth,... OMIM:300166
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ... OMIM:619329
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm, Respiratory insufficiency OMIM:615349
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Splenomegaly OMIM:616651
Multiple Benign Circumferential Skin Creases On Limbs
Umbilical hernia, Congestive heart failure, Edema ORPHA:2505
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect ORPHA:398156
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis, Oligohydramnios ORPHA:139466
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal heart morphology ORPHA:26791
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... OMIM:602782
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Holoprosencephaly, Anterior encephalocele OMIM:601357
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventricular septal defect OMIM:602501
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Short neck, Transposition of the great ar... ORPHA:1780
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Rhabdoid Tumor
Hypertension, Internal hemorrhage, Respiratory insufficiency, Neoplasm of the liver ORPHA:69077
Cutis Laxa, Autosomal Recessive, Type Ic
Vascular dilatation, Recurrent pneumonia, Tracheomalacia, Umbilical hernia, Emphysema, Peripheral... OMIM:613177
Gaucher Disease, Type Ii
Death in infancy, Double aortic arch OMIM:230900
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Anasarca OMIM:260450
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Prominent veins on trunk, Varicose veins, Aortic root aneurysm, Webbed n... ORPHA:536532
Tetrasomy 5P
Redundant neck skin, Short neck, Congestive heart failure, Hydrocephalus, Heart murmur, Pulmonary... ORPHA:3309
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot... OMIM:115470
Dietary Iron Overload Disease
Congestive heart failure, Abnormal heart morphology ORPHA:139507
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Cardiomegaly OMIM:619259
Tyshchenko Syndrome
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Respiratory insufficiency, Ascending tubular aorta aneurysm, Restrictive v... ORPHA:536471
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Polyhydramnios ORPHA:2256
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, U... OMIM:615879
Trisomy 13
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Atrial septal defect, Cysti... ORPHA:3378
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... OMIM:264480
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Pa... ORPHA:353281
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Ogden Syndrome
Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia ORPHA:276432
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Ventricular septal defect, Natal tooth, Death in childhood OMIM:616901
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Short neck ORPHA:93267
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Short neck, Congestive heart failure, Coarctation ... OMIM:105650
Intellectual Developmental Disorder, Autosomal Dominant 47
Increased nuchal translucency, Ventricular septal defect OMIM:617635
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... OMIM:619542
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Low posterior hairline, Pulmonary artery hyp... OMIM:300963
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Congestive heart failure, Renovascular hypertension, Caro... ORPHA:391487
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Macroglossia, Arthrogryposis-like hand anom... ORPHA:369891
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:1488
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Bruising susceptibility, Ascending aortic dissection, Mitral regurgitation OMIM:615582
Martsolf Syndrome 1
Cardiomyopathy, Congestive heart failure, Cardiac arrest, Low posterior hairline OMIM:212720
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Carney Complex, Type 1
Cardiac myxoma, Congestive heart failure OMIM:160980
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Abnormal left ventricular function, Cholecystitis, Ecchymosis, I... ORPHA:99827
Seckel Syndrome 9
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Polyhydramnios OMIM:616777
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Carpenter Syndrome 1
Ventricular septal defect, Persistence of primary teeth, Short neck, Patent ductus arteriosus, Te... OMIM:201000
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly ORPHA:77298
Meckel Syndrome, Type 1
Occipital encephalocele, Natal tooth, Malformation of the hepatic ductal plate, Short neck, Large... OMIM:249000
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary embolism, Raynaud... ORPHA:3260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial f... OMIM:253800
Avian Influenza
Congestive heart failure, Pleural effusion, Miscarriage ORPHA:454836
De Barsy Syndrome
Delayed eruption of teeth, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aorti... ORPHA:2962
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Pelger-Huet Anomaly
Umbilical hernia, Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness OMIM:169400
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina bifida, Short nec... ORPHA:99776
Lambotte Syndrome
Ventricular septal defect, Semilobar holoprosencephaly OMIM:245552
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hyd... OMIM:235510
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension OMIM:616482
Desbuquois Syndrome
Ventricular septal defect, Short neck ORPHA:1425
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Coar... OMIM:164210
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Congestive heart failure, Xerostomia, Pulmonary arterial hypertension... ORPHA:220393
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect, Short neck ORPHA:52055
Noonan Syndrome 3
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Webbe... OMIM:609942
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morpholog... ORPHA:96147
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Sudden cardia... ORPHA:906
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
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
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Calf muscle... OMIM:615673
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Short neck OMIM:609654
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... ORPHA:340
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Congestive heart failure, Hydrocephalus, Abnormal aortic valve m... ORPHA:579
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr... OMIM:618027
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Palpebral edema, Cardiomegaly, Myelopathy, Congestive heart failure, Heart ... OMIM:252500
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Recombinant 8 Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Low posterior hai... ORPHA:96167
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hy... OMIM:614424
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopa... ORPHA:90324
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
Alagille Syndrome
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Cholestasis, Hypertension, R... ORPHA:52
Filippi Syndrome
Ventricular septal defect OMIM:272440
Erdheim-Chester Disease
Abnormal pericardium morphology, Congestive heart failure, Joint swelling, Abnormal aortic valve ... ORPHA:35687
Koolen-De Vries Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Pulmonic stenosis OMIM:610443
Familial Chylomicronemia Syndrome
Precocious atherosclerosis, Pulmonary embolism, Jaundice, Hepatosplenomegaly, Hepatic steatosis ORPHA:444490
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Thickened nuchal skin fold, Patent ductus arteriosus, Ventricular septal de... OMIM:220500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Cardiac conduction... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Cardiac conduction... ORPHA:353277
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Listeriosis
Pericarditis, Stiff neck, Miscarriage, Myocarditis, Congestive heart failure, Endocarditis, Nucha... ORPHA:533
Opitz Gbbb Syndrome
Natal tooth, Patent ductus arteriosus, Coarctation of aorta, Stridor, Persistent left superior ve... ORPHA:2745
Woods Syndrome
Ventricular septal defect OMIM:615236
Duane-Radial Ray Syndrome
Spina bifida occulta, Vascular dilatation OMIM:607323
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia OMIM:617450
Hypermobile Ehlers-Danlos Syndrome
Apnea, Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection, Umbilical her... ORPHA:285
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Polyhydramnios, Dehydration OMIM:616271
Short-Rib Thoracic Dysplasia 12
Natal tooth, Ventricular septal defect, Edema, Short neck, Polyhydramnios, Patent ductus arterios... OMIM:269860
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Ascending aorta hypoplasia, Flexion contracture, Knee flexion contracture, Diaphra... OMIM:619503
Noonan Syndrome 4
Ventricular septal defect, Polyhydramnios, Short neck, Pulmonic stenosis, Webbed neck, Atrial sep... OMIM:610733
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Ventricular septal defect, Oligohydramnios OMIM:611812
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure ORPHA:75564
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, My... ORPHA:904
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Peri... OMIM:613001
Orofaciodigital Syndrome I
Hepatic cysts, Myelomeningocele, Hypertension, Hepatic fibrosis, Vascular dilatation OMIM:311200
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short neck, Patent ductus arteriosus, Increased nuchal translucency, Aortic root aneurysm, Pulmon... ORPHA:280633
Kapur-Toriello Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Low posterior hairline, Atrial s... OMIM:244300
Spondylo-Ocular Syndrome
Webbed neck, Ventricular septal defect, Low posterior hairline, Short neck ORPHA:85194
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:615895
Restrictive Dermopathy
Natal tooth, Large placenta, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Short um... ORPHA:1662
Triosephosphate Isomerase Deficiency
Death in infancy, Congestive heart failure, Oligohydramnios, Death in adolescence OMIM:615512
Waardenburg Syndrome, Type 2E
Vascular dilatation OMIM:611584
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
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept... ORPHA:84064
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Thickened nuchal skin fold, Prolonged QT interval, Aortic dissection, Hepat... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Thickened nuchal skin fold, Prolonged QT interval, Aortic dissection, Hepat... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Thickened nuchal skin fold, Prolonged QT interval, Aortic dissection, Hepat... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Thickened nuchal skin fold, Prolonged QT interval, Aortic dissection, Hepat... ORPHA:881
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, Perimembranous ventricular septal... ORPHA:83617
Mosaic Trisomy 16
Ventricular septal defect, Large placenta, Patent ductus arteriosus, Coarctation of aorta, Abnorm... ORPHA:1708
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Lo... ORPHA:308552
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Webbed neck OMIM:618950
Costello Syndrome
Thickened nuchal skin fold, Ventricular septal defect, Polyhydramnios, Short neck, Mitral valve p... ORPHA:3071
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Ventricular septal defect, Hydrops fetalis, Coarctation of aorta ORPHA:268249
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Edema OMIM:618348
Hellp Syndrome
Elevated hepatic transaminase, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Incr... ORPHA:244242
Leigh Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:506
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hyper... OMIM:100300
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Broad neck, Patent ductus arteriosus, Ventricular septal defect, Short neck OMIM:300472
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Brachydactyly, Type B1
Delayed eruption of permanent teeth, Ventricular septal defect OMIM:113000
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Large placenta, Jaundice, Abnormal... OMIM:222470
Occipital Horn Syndrome
Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Bruising susceptibility, Vascular dilatation ORPHA:198
Kleefstra Syndrome
Delayed eruption of teeth, Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery ste... ORPHA:261494
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Camptodactyly, ... OMIM:619123
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Int... ORPHA:394
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Hypomimic face OMIM:608572
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... ORPHA:247245
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive hear... ORPHA:508542
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Codas Syndrome
Extrahepatic biliary duct atresia, Ventricular septal defect ORPHA:1458
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Hypertension, Vascular dilatation ORPHA:2750
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm OMIM:618891
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... ORPHA:2473
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Aortic root aneurysm, Mitral ... ORPHA:287
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... ORPHA:79329
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... ORPHA:254346
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Hydrocephalus, Atria... OMIM:309801
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur ORPHA:166035
Pagod Syndrome
Encephalocele, Spina bifida, Sudden cardiac death, Meningocele, Pulmonary artery hypoplasia, Abno... ORPHA:991
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Incontinentia Pigmenti
Delayed eruption of teeth, Telangiectasia of the skin, Eosinophilia, Congestive heart failure, Re... ORPHA:464
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Webbed neck, Aortic root aneurysm, Low posterior hairline, Short neck OMIM:245600
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Camptodactyly OMIM:619980
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Ascites, Congestive heart failure, Polyhydramnios OMIM:617156
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Low posterior hairline, Atrial se... OMIM:617360
Au-Kline Syndrome
Thickened nuchal skin fold, Hypertension, Aortic root aneurysm, Lipomyelomeningocele OMIM:616580
Generalized Pustular Psoriasis
Congestive heart failure, Pedal edema ORPHA:247353
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Portal hypertension, Congestive heart failure,... ORPHA:171
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Short neck, Coronary artery fistula, Abnormal cardiac se... OMIM:614294
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Atrial septal defect, Left vent... OMIM:242840
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, Ven... OMIM:614866
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect, Short neck OMIM:617452
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Cardiomyocyte mitochondrial proliferation, Ventricular tach... ORPHA:423
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Ventricular septal defect ORPHA:79243
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Dilation of Virchow-Robin spaces, Ventricular septal defect, Polyhydramnios, Pulmonary artery ste... OMIM:300998
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple... OMIM:619418
Sotos Syndrome
No permanent dentition, Patent ductus arteriosus, Delayed eruption of permanent teeth, Prolonged ... ORPHA:821
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... OMIM:142900
Mosaic Trisomy 1
Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Coarctation of aorta, P... ORPHA:1692
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Umbilical hernia,... ORPHA:96191
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Short neck, Pancreatic lymphangie... ORPHA:1655
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, E... OMIM:182250
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Ventricular septal defect, Polyhydramnios, Hematochezia, Death in childhood OMIM:243150
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Neu-Laxova Syndrome 1
Broad neck, Hydranencephaly, Ventricular septal defect, Spina bifida, Short neck, Polyhydramnios,... OMIM:256520
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale OMIM:614961
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vascular dilatation, Respiratory insufficiency OMIM:617641
Geleophysic Dysplasia 1
Congestive heart failure, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis OMIM:231050
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cardiomyopathy, Dilatation of the ventricular cavity, Respiratory insufficiency ORPHA:363623
Pallister-Hall Syndrome
Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Holoprosencephaly, Preductal co... OMIM:146510
Atypical Werner Syndrome
Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebral vascular morphology, A... ORPHA:79474
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal lymphangiectasia, Budd-Chiari syndrome, Pulmonary embolism OMIM:226300
Cerebrocostomandibular Syndrome
Death in infancy, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Webbed ... ORPHA:1393
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Increased nuchal ... ORPHA:79345
Orotic Aciduria
Atrial septal defect, Ventricular septal defect, Reduced orotidine 5-prime phosphate decarboxylas... OMIM:258900
Sotos Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Atrial s... OMIM:117550
Kury-Isidor Syndrome
Ventricular septal defect, Short neck OMIM:619762
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ventricular septal defect, Broad neck OMIM:613309
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Ventricular septal defect, Miscarriage, Polyhydramnios, Short neck, Large pl... ORPHA:96334
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Short neck, Patent d... OMIM:616894
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect, Short neck ORPHA:505237
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Alagille Syndrome 1
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Tetralogy of ... OMIM:118450
Distal Deletion 19P
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
1P36 Deletion Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Dilated cardiomyopathy, Telangiectasia, Abnormali... ORPHA:1606
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Short neck OMIM:609053
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hypertension, Congestive heart failure ORPHA:85450
Kleefstra Syndrome 1
Macroglossia, Natal tooth, Conotruncal defect, Persistence of primary teeth OMIM:610253
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema OMIM:606232
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... OMIM:157800
Hydranencephaly
Stiff neck, Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Ab... ORPHA:2177
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Aceruloplasminemia
Congestive heart failure, Torticollis ORPHA:48818
Currarino Syndrome
Vascular dilatation OMIM:176450
Chops Syndrome
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve... OMIM:616368
Doors Syndrome
Thickened nuchal skin fold, Polyhydramnios, Sirenomelia, Delayed eruption of permanent teeth, Dou... ORPHA:79500
Fanconi Anemia, Complementation Group N
Ventricular septal defect, Short neck OMIM:610832
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Edema of the dorsum of feet, Ventricular septal defect, Eosinophilia, Spina bif... OMIM:274000
Donnai-Barrow Syndrome
Umbilical hernia, Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic ... OMIM:222448
Zellweger Syndrome
Hepatomegaly, Jaundice, Hepatic failure, Ventricular septal defect ORPHA:912
Multiple Osteochondromas
Pseudoaneurysm, Cervical myelopathy, Pneumothorax, Hemothorax ORPHA:321
Distal Duplication 5Q
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... OMIM:615343
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Short neck, Patent ductus arteriosus, Pulmonic ... OMIM:610759
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Webbed neck OMIM:270450
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Ventricular septal defect ORPHA:3078
Dysosteosclerosis
Delayed eruption of teeth, Ventricular septal defect ORPHA:1782
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... ORPHA:2369
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:619525
Alg9-Cdg
Thickened nuchal skin fold, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Shor... ORPHA:79328
Scalp-Ear-Nipple Syndrome
Palpebral edema, Cardiac myxoma, Congestive heart failure, Hypertension, Supraventricular tachyca... OMIM:181270
Noonan Syndrome 1
Ventricular septal defect, Short neck, Lymphedema, Patent ductus arteriosus, Coarctation of aorta... OMIM:163950
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Advanced eruption of teeth, Atrial septal de... ORPHA:1519
Focal Dermal Hypoplasia
Acute hepatic failure, Ventricular septal defect, Telangiectasia of the skin, Spina bifida, Conge... ORPHA:2092
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect, Short neck OMIM:620073
Renal Agenesis
Hypertension, Ventricular septal defect, Oligohydramnios ORPHA:411709
C Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:211750
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Patent du... ORPHA:261337
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:614609
Lateral Meningocele Syndrome
Ventricular septal defect, Short neck, Meningocele, Low posterior hairline, Umbilical hernia ORPHA:2789
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc... OMIM:619991
Abetalipoproteinemia
Congestive heart failure, Cardiomegaly ORPHA:14
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Macroglossia, El... OMIM:618268
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonary arterial hyp... OMIM:618454
Diets-Jongmans Syndrome
Umbilical hernia, Interrupted inferior vena cava with azygous continuation, Ventricular septal de... OMIM:618846
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Aortic... ORPHA:464311
Autosomal Recessive Robinow Syndrome
Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Abn... ORPHA:1507
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, ... OMIM:300373
Dominant Beta-Thalassemia
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy ORPHA:231226
Friedreich Ataxia 2
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... OMIM:601992
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Left superior vena cava draining to c... ORPHA:464738
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect OMIM:616449
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Patent ductus arteriosu... OMIM:214100
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplastic aortic arch ORPHA:457284
Short Stature-Micrognathia Syndrome
Skeletal muscle hypertrophy, Ventricular septal defect OMIM:617164
Hand-Foot-Genital Syndrome
Miscarriage, Ventricular septal defect ORPHA:2438
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Patent ductus arteriosus, Atrial septal d... OMIM:257920
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Ventricular septal defect, Oligohydramnios, Death in adolescence OMIM:619229
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Keutel Syndrome
Miscarriage, Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic steno... OMIM:245150
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Short neck, Pulmonic stenosis, W... OMIM:607721
Jacobsen Syndrome
Death in infancy, Ventricular septal defect, Spina bifida, Short neck, Coarctation of aorta, Hypo... ORPHA:2308
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Short neck, Coarctation of aorta, Umbi... OMIM:616145
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Atrial septal defect,... OMIM:301030
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Hydrocephalus, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale OMIM:613457
African Trypanosomiasis
Abnormal EKG, Pericarditis, Miscarriage, Myelopathy, Myocarditis, Congestive heart failure, Secon... ORPHA:3385
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... OMIM:178110
Johanson-Blizzard Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:243800
Myhre Syndrome
Ventricular septal defect, Short neck, Pericardial effusion, Patent ductus arteriosus, Coarctatio... OMIM:139210
Esophageal Atresia
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Coarctation of aorta ORPHA:1199
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... OMIM:614653
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Holoprosencephaly OMIM:612530
Coffin-Siris Syndrome
Delayed eruption of teeth, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart mo... ORPHA:1465
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Trisomy 18
Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Webbed neck, Atrial sept... ORPHA:3380
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Elevated hepatic transaminase, Excessive ble... ORPHA:99826
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Webbed neck, Atrial septal defect,... ORPHA:209905
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Short neck, Coarctat... ORPHA:124
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Ventricular septal defect, Short neck, Muscular ventricular septal defect, Hydr... OMIM:210710
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Polyhydramnios OMIM:615503
Neutral Lipid Storage Myopathy
Cardiomyopathy, Congestive heart failure ORPHA:98908
Bohring-Opitz Syndrome
Ventricular septal defect, Flexion contracture, Camptodactyly, Atrial septal defect, Hyperechogen... OMIM:605039
Robinow Syndrome
Ventricular septal defect, Persistence of primary teeth, Marked delay in eruption of permanent te... ORPHA:97360
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Beta-Thalassemia Major
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy ORPHA:231214
Yellow Fever
Abnormal bleeding, Shock, Elevated circulating aspartate aminotransferase concentration, Supraven... ORPHA:99829
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Atriov... ORPHA:3047
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Arrhythmia, Death in adolescence, Cardiomegaly OMIM:256040
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis,... ORPHA:464306
Hallermann-Streiff Syndrome
Natal tooth, Congestive heart failure ORPHA:2108
19Q13.11 Microdeletion Syndrome
Ventricular septal defect ORPHA:217346
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Holoprosencephaly ORPHA:261236
Yunis-Varon Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrocephalus, Incr... ORPHA:3472
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Apert Syndrome
Delayed eruption of teeth, Hydrocephalus, Overriding aorta, Ventricular septal defect OMIM:101200
Codas Syndrome
Delayed eruption of teeth, Ventricular septal defect, Polyhydramnios, Atrial septal defect, Atrio... OMIM:600373
Marshall-Smith Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Premature ventricular contrac... OMIM:602535
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Atrial septal defect, Ventricular septa... ORPHA:373
3Q29 Microduplication Syndrome
Ventricular septal defect, Short neck ORPHA:251038
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture OMIM:225400
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Costello Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Short neck, Hydrocephalus, Mitral... OMIM:218040
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Ventricular septal defect, Pedal edema, Mitral valve prolapse OMIM:617107
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
Opitz Gbbb Syndrome
Umbilical hernia, Ventricular septal defect OMIM:300000
Beta-Thalassemia Intermedia
High-output congestive heart failure, Pulmonary arterial hypertension ORPHA:231222
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Oligohydramnios, Pulmonic stenosis, Short neck ORPHA:488632
Cerebellofaciodental Syndrome
Ventricular septal defect, Short neck, Mitral valve prolapse OMIM:616202
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... ORPHA:466791
Cerebrocostomandibular Syndrome
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Webbed neck, Atrial septal d... OMIM:117650
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... ORPHA:289
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Short neck OMIM:212066
Tetrasomy 9P
Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Short neck, Raynaud phenomenon,... ORPHA:3310
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Hepatic fibrosis, Atrial... OMIM:263520
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Short neck OMIM:609460
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Flexion contracture, Ventricular septal defect OMIM:619306
Overhydrated Hereditary Stomatocytosis
Prolonged neonatal jaundice, Hepatomegaly, Jaundice, Pulmonary embolism OMIM:185000
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aqueductal stenosis, Patent ductus arteriosus, Hydrocephalus, Tetralog... OMIM:154400
Oculodentodigital Dysplasia
Umbilical hernia, Arrhythmia, Ventricular septal defect, Camptodactyly of finger ORPHA:2710
Carpenter Syndrome 2
Diaphragmatic eventration, Tricuspid regurgitation, Dextrocardia, Short neck, Situs inversus tota... OMIM:614976
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect, Short neck ORPHA:251028
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Patent ductus arteriosus, Dilated cardiomyopathy, Aortic root aneur... OMIM:607872
Omodysplasia 1
Ventricular septal defect, Short neck, Pulmonary artery stenosis, Atrial septal defect, Umbilical... OMIM:258315
Combined Immunodeficiency-Enteropathy Spectrum
Abnormal ductus choledochus morphology, Ventricular septal defect, Hepatitis, Peritoneal abscess ORPHA:436252
Hajdu-Cheney Syndrome
Hepatomegaly, Mitral stenosis, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus,... ORPHA:955
Hydrolethalus Syndrome 1
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Anencephaly, S... OMIM:236680
Marden-Walker Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... ORPHA:2461
Fryns Syndrome
Ventricular septal defect, Polyhydramnios, Short neck, Stillbirth, Chylothorax, Atrial septal def... OMIM:229850
Trichothiodystrophy
Multiple joint contractures, Cardiomyopathy, Umbilical hernia, Ventricular septal defect ORPHA:33364
Hajdu-Cheney Syndrome
Ventricular septal defect, Short neck, Patent ductus arteriosus, Hydrocephalus, Umbilical hernia OMIM:102500
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v... ORPHA:500095
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Ulnar-Mammary Syndrome
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... ORPHA:3138
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Polyhydramnios, Short neck, Patent ductus arteriosus, Increased nuchal... ORPHA:818
Jacobsen Syndrome
Ventricular septal defect, Short neck, Hydrocephalus, Holoprosencephaly, Atrial septal defect OMIM:147791
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Advanced eruption of teeth ORPHA:769
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Short neck, Webbed neck, Atrial septal defect, Tetralogy of Fallot OMIM:613458
Trichorhinophalangeal Syndrome, Type Ii
Internal carotid artery dissection, Myocardial infarction, Cerebral arteriovenous malformation, P... OMIM:150230
Carney Complex
Cardiac myxoma, Congestive heart failure, Hypertension, Dilatation of the cerebral artery, Stroke ORPHA:1359
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Mosaic Trisomy 20
Ventricular septal defect, Long neck, Dysplastic tricuspid valve, Abnormal mitral valve morpholog... ORPHA:1724
Smith-Lemli-Opitz Syndrome
Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Coarctation... OMIM:270400
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Short neck ORPHA:251014
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Dilatation of the ventricular cavity ORPHA:85438
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Camptodactyly OMIM:272950
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Polyhydramnios, Pulmonary artery stenosis, Dilatation of the ventricul... ORPHA:459070
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Delayed eruption of teeth, Aortic regurgitation, Tricuspid regurgitation... OMIM:143095
Fanconi Anemia, Complementation Group C
Flexion contracture, Bruising susceptibility, Ventricular septal defect OMIM:227645
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale OMIM:616975
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Abnormal erythrocyte enzyme level, Dyspnea, Jaundice, ... ORPHA:447
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper eyelid ... OMIM:616268
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Death in childhood, Atrial septal defect, Tetr... OMIM:309500
Okamoto Syndrome
Redundant neck skin, Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial... ORPHA:2729
Degcags Syndrome
Tachycardia, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Low posterior h... OMIM:619488
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Facial hypotonia, Congenital diaph... OMIM:312870
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Patent ductus arter... OMIM:235730
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Broad neck, Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve pro... ORPHA:363700
Zttk Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Aortic regurgitation OMIM:617140
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Ventricular septal defect, Patent foramen ovale OMIM:613884
Otopalatodigital Syndrome, Type Ii
Spina bifida, Short neck, Respiratory insufficiency, Respiratory failure, Stillbirth, Umbilical h... OMIM:304120
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Holopr... OMIM:615948
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect, Semil... OMIM:301044
Orofaciodigital Syndrome Type 14
Webbed neck, Patent ductus arteriosus, Ventricular septal defect, Short neck ORPHA:434179
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Low posterior hairline, Short neck OMIM:122470
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... OMIM:194050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Short neck, Mitral regurgitation, Atrial septal... OMIM:271640
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios OMIM:608670
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Ventricular septal defect ORPHA:1934
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect ORPHA:1071
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Polyhydramnios, Short neck, Patent ductus arteriosus, Hydrocephalus, F... OMIM:268300
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly ORPHA:141099
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Patent ductus arteriosus, Spina bifida occu... OMIM:135900
Pallister-Hall Syndrome
Natal tooth, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Holoprose... ORPHA:672
Kabuki Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Coarctation of aorta OMIM:147920
Peters-Plus Syndrome
Ventricular septal defect, Polyhydramnios, Short neck, Patent ductus arteriosus, Hydrocephalus, P... OMIM:261540
Townes-Brocks Syndrome 1
Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Umbilical hern... OMIM:107480
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Broad neck OMIM:619522
Wolf-Hirschhorn Syndrome
Accessory spleen, Decreased muscle mass, Ventricular septal defect, Biliary tract abnormality, At... OMIM:194190
Penile Agenesis
Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:49
Pallister-Killian Syndrome
Delayed eruption of teeth, Edema of the dorsum of feet, Ventricular septal defect, Polyhydramnios... OMIM:601803
Cornelia De Lange Syndrome
Delayed eruption of teeth, Ventricular septal defect, Short neck, Increased nuchal translucency, ... ORPHA:199
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Yunis-Varon Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Ca... OMIM:216340
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Delayed eruption of teeth, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary v... ORPHA:261552
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Ventricular septal defect OMIM:620330
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect, Polyhydramnios, Delayed eruption of teeth OMIM:606170
Ulnar-Mammary Syndrome
Arrhythmia, Ventricular septal defect OMIM:181450
Alström Syndrome
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial fibrosis, Hyper... ORPHA:64

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 Mrtfb

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 Mrtfb.

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

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MGI Allele Allele Type Produced
Mrtfbtm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Mrtfbtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mrtfbtm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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