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Gene: Hbegf MGI:96070

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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:
heparin-binding EGF-like growth factor
Synonyms:
Dtr,  HB-EGF,  Hegfl

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 Hbegf 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 Hbegf by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Myxoma, Intracardiac
Cardiac myxoma, Pulmonic valve myxoma, Bacterial endocarditis OMIM:255960
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
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, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Aort... OMIM:615779
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function OMIM:619492
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... ORPHA:422
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... OMIM:617912
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia OMIM:247610
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness, Interosseus mus... OMIM:619903
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,... OMIM:160500
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... OMIM:614096
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Heart-Hand Syndrome, Slovenian Type
Myopathy, Dilated cardiomyopathy OMIM:610140
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... OMIM:616827
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology ORPHA:1208
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Stillbirth, Aor... OMIM:615415
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Arrhythmia, Pulm... ORPHA:228410
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... OMIM:300718
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weaknes... ORPHA:263494
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy ORPHA:154
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Weill-Marchesani Syndrome
Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis ORPHA:3449
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... OMIM:620236
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl... ORPHA:63273
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial pals... OMIM:619424
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... OMIM:619705
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia ORPHA:324588
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis ORPHA:2871
Scimitar Syndrome
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... ORPHA:185
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arr... OMIM:602390
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p... OMIM:612863
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dy... ORPHA:369840
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we... ORPHA:171442
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy ORPHA:369847
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... OMIM:619433
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia OMIM:615524
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ... ORPHA:2414
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Palpitations, Pulmona... ORPHA:2847
Aortic Valve Disease 1
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... OMIM:109730
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Pulmonary hypoplasia, Pulmonary arterial hypertension OMIM:619003
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ... OMIM:212093
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatomegaly OMIM:609016
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Larsen-Like Syndrome, Lethal Type
Neonatal death, Abnormal cartilage matrix, Pulmonary insufficiency, Pulmonary hypoplasia OMIM:245650
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia OMIM:618815
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... ORPHA:3097
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Serkal Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Ascending tubular aorta an... OMIM:619825
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Mitral regurgitation, Pulm... OMIM:615355
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... OMIM:609008
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... OMIM:601612
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art... OMIM:161800
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... ORPHA:363618
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... ORPHA:171445
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Abnormality of cartilage of external ear, Double outlet r... ORPHA:3426
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Hypertension, ... OMIM:230800
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... ORPHA:363705
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... OMIM:616166
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Pulmonary hypoplasia OMIM:616733
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
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
Microphthalmia, Syndromic 9
Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus, Hypoplastic l... OMIM:601186
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Mitral valve prolapse, Small thenar eminence, Camptodactyly, Joint con... OMIM:211960
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr... ORPHA:1349
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
3C Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, Te... ORPHA:7
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... ORPHA:980
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG, Muscular dystrophy OMIM:309930
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Mitral Valve Prolapse 1
Mitral regurgitation, Mitral valve prolapse OMIM:157700
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Gastrointestinal angiodysplasia, A... OMIM:193400
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... ORPHA:272
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal amyotrophy, Generalized ... OMIM:615084
Central Core Disease
Multiple joint contractures, Mitral valve prolapse, Myopathy, Type 1 muscle fiber predominance, P... ORPHA:597
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... OMIM:255310
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Myopathy, Fatty replacement of skeletal muscle OMIM:255100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... ORPHA:98855
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly OMIM:607685
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Periventricular Nodular Heterotopia
Aortic regurgitation, Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm ORPHA:98892
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... ORPHA:98853
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur OMIM:123100
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Emanuel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Patent ductus ar... OMIM:609029
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... ORPHA:399086
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... OMIM:612422
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture OMIM:618120
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Optic Atrophy 8
Mitral regurgitation, Mitral valve prolapse OMIM:616648
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Pulmonic stenosis ORPHA:75496
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonic stenosis, Recurre... OMIM:618282
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... ORPHA:324604
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... OMIM:608149
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ... OMIM:607598
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy ORPHA:79230
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Carotid artery dissection, Pulmonary artery stenos... OMIM:208050
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve ORPHA:228190
Singleton-Merten Syndrome 2
Aortic valve calcification, Arrhythmia, Aortic valve stenosis OMIM:616298
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo... OMIM:607155
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction OMIM:606842
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Cong... OMIM:601808
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... OMIM:212112
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphys... ORPHA:70589
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... OMIM:616564
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Generalized amyotrophy, Weakness of f... ORPHA:352447
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology ORPHA:3346
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular... ORPHA:3287
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Ventricular septal defect, Parachute mitral valve, Patent ductu... OMIM:618316
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Portal hypertension, Situs inversus totalis, Splenomegaly, Patent ductus arteriosus... OMIM:208540
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent... ORPHA:398124
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,... OMIM:613834
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation,... ORPHA:1120
Emanuel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Patent ductus ar... ORPHA:96170
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated car... ORPHA:367
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Nephronophthisis 2
Situs inversus totalis, Hypertension, Pulmonary hypoplasia, Pulmonary insufficiency, Enlarged kidney OMIM:602088
Stiff Skin Syndrome
Elbow flexion contracture, Bicuspid aortic valve, Camptodactyly, Knee flexion contracture OMIM:184900
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage ORPHA:280679
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Pulmonary hypoplasia, Transposition of the great arteries, Neonatal death, Atrioven... OMIM:314390
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy... OMIM:615352
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension ORPHA:401923
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve OMIM:604381
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Mitral valve prolapse, Mitral... OMIM:606631
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis, Hypoperista... OMIM:611376
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Hepatosplenomegaly, Atrial... OMIM:267010
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Developmental Delay, Language Impairment, And Ocular Abnormalities
Pulmonic stenosis, Facial telangiectasia OMIM:620141
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... ORPHA:500
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia ORPHA:2248
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morpholog... ORPHA:96147
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... OMIM:617336
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve steno... OMIM:614185
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Alg3-Cdg
Cardiomyopathy, Pulmonary hypoplasia, Coarctation of the descending aortic arch ORPHA:79321
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Splenomegaly, Dilated cardiomyopathy, Rhabdomyolysis, Cardiomy... OMIM:300842
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... ORPHA:95430
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Noonan Syndrome 3
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... OMIM:609942
Mucopolysaccharidosis, Type X
Aortic regurgitation, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve... OMIM:619698
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia, Abnormal heart morphology OMIM:300978
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Cutis Laxa-Marfanoid Syndrome
Emphysema, Abnormal heart valve morphology ORPHA:171719
Cardiac-Urogenital Syndrome
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Abno... ORPHA:2257
Propionic Acidemia
Cardiomyopathy, Arrhythmia, Hepatomegaly ORPHA:35
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Recurrent upper respiratory tract infections, Mitral regurgitation, Intimal thicken... OMIM:253010
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Diastasis recti, Partia... OMIM:265380
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Arterial tortuosity, Pneumothorax, Mitral valve prolapse, Ascending tubula... OMIM:614816
Cap Myopathy
Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,... ORPHA:171881
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic valve OMIM:618845
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Abnormal heart morphology OMIM:263210
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Myopa... OMIM:212140
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Subvalvular aortic stenosis OMIM:250951
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:611126
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Thanatophoric Dysplasia
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:2655
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... OMIM:100300
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... OMIM:616028
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Congestive heart failure, Patent ductus arteriosus, Cardiomyopathy... OMIM:616866
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Trisomy 17P
Patent ductus arteriosus, Aortic valve stenosis, Hypoplastic left heart ORPHA:261290
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology OMIM:614100
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Pleur... OMIM:616897
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve OMIM:608980
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Isolated Atp Synthase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Pulmonic stenosis OMIM:615280
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... OMIM:230500
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Pulmonic stenosis OMIM:617600
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve ... ORPHA:2396
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis ORPHA:459061
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:614299
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology ORPHA:2412
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation, Mitral valve prolapse OMIM:173900
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
10Q22.3Q23.3 Microdeletion Syndrome
Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, ... OMIM:612561
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve OMIM:617744
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke OMIM:182410
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Tricuspid regurgitation, Pulmonary hypoplasia, Cardiomegaly OMIM:620306
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Abnormal left ventricular function, Pulmonic stenosis, P... OMIM:301056
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... ORPHA:99901
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Alg9-Cdg
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the ... ORPHA:79328
Atelosteogenesis, Type Ii
Stillbirth, Lacunar halos around chondrocytes, Pulmonary hypoplasia OMIM:256050
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... OMIM:611812
Retinitis Pigmentosa 89
Bicuspid aortic valve, Hepatosplenomegaly OMIM:618955
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se... ORPHA:26793
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... ORPHA:86812
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly OMIM:617022
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy OMIM:608068
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly OMIM:614702
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis OMIM:212780
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, Mitral regurgita... ORPHA:1101
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Asbestos Intoxication
Right ventricular failure, Atelectasis, Pleural thickening, Cor pulmonale, Myocardial fibrosis, A... ORPHA:2302
Cardiospondylocarpofacial Syndrome
Mitral regurgitation, Mitral valve prolapse ORPHA:3238
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valv... OMIM:175050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiomyopathy, Macrogloss... OMIM:613155
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:98896
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia, Hypoplastic heart OMIM:312150
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypertension, Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage OMIM:300845
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Arrhythmia OMIM:609015
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Arrhythmia, Mitral valve prolapse ORPHA:230839
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Neonatal Marfan Syndrome
Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Flexion contracture, Heart murmur... ORPHA:284979
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy OMIM:232400
Infantile Sialic Acid Storage Disease
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly OMIM:269920
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis OMIM:616977
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology ORPHA:1027
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Patent ductus arteriosus, Mi... OMIM:602782
Hemochromatosis, Type 2B
Splenomegaly, Cardiomyopathy, Congestive heart failure, Hepatomegaly OMIM:613313
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnormal pleura morphology, Atelectas... ORPHA:2357
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Abnormal... ORPHA:90308
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Pulmonary hypoplasia, Situs inversus totalis OMIM:202650
Keutel Syndrome
Peripheral pulmonary artery stenosis, Calcification of the auricular cartilage, Ventricular septa... OMIM:245150
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic stenosis OMIM:619148
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Fragile X Syndrome
Ascending tubular aorta aneurysm, Mitral valve prolapse ORPHA:908
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... ORPHA:171433
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... ORPHA:75249
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis OMIM:618914
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia, Hypoplastic heart OMIM:253290
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Pulmonary artery s... OMIM:600001
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... ORPHA:1177
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse ORPHA:3071
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Hepatomegaly, Cor triatriatum, Prominent superficial veins, Sec... OMIM:612541
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu... ORPHA:2326
Hurler-Scheie Syndrome
Splenomegaly, Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly ORPHA:93476
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Increased variability in muscle fiber diameter OMIM:613752
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Mosaic Trisomy 16
Ventricular septal defect, Abnormal lung morphology, Patent ductus arteriosus, Abnormal heart mor... ORPHA:1708
Alkaptonuria
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Interverte... OMIM:203500
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati... OMIM:608328
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... ORPHA:555877
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, Aorti... OMIM:613563
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Pulmonary hypoplasi... ORPHA:314588
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ... OMIM:617506
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m... OMIM:253800
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Pentalogy Of Cantrell
Ventricular septal defect, Abnormal pericardium morphology, Pulmonary hypoplasia, Atrial septal d... ORPHA:1335
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalous pulmonary ve... OMIM:190685
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Heart... ORPHA:99931
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Noonan Syndrome 14
Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse OMIM:619745
Anauxetic Dysplasia 1
Aortic valve stenosis OMIM:607095
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Geleophysic Dysplasia 1
Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis OMIM:231050
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormal heart valve morphology, Ascending tubular aorta aneurysm, Pulmona... ORPHA:536471
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni... OMIM:201000
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Mitral valve prolapse, Mitral regurgitation, Camptodactyly, Patent foramen ovale OMIM:615539
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericardial effus... ORPHA:79126
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Varicose veins, Pulmonic stenosis, Aortic dissection OMIM:618343
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v... OMIM:201475
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Quadricuspid aortic valve, Muscle fiber splitting, Mitral valve prolapse OMIM:606408
Congenital Contractural Arachnodactyly
Aortic aneurysm, Mitral valve prolapse ORPHA:115
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis OMIM:619123
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Abnormal aor... ORPHA:1166
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries OMIM:313850
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta OMIM:300867
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Spontaneous pneumothorax, Bicuspid aortic valve, Arterial tortuosity, Desce... OMIM:610168
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia, Neonatal death OMIM:608013
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Melnick-Needles Syndrome
Pulmonary arterial hypertension, Stillbirth, Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Arterial tortuosity, Patent ductu... ORPHA:284984
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ... OMIM:620070
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology ORPHA:485405
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Monosomy 13Q34
Hematochezia, Common atrium, Epistaxis, Pulmonic stenosis ORPHA:96168
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Skeletal muscle atrophy, Congestive heart failure, Splenomegaly, Dilated cardiomyop... OMIM:615895
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu... ORPHA:353281
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo... OMIM:620025
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:614609
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy OMIM:617713
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy ORPHA:70595
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:615802
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am... ORPHA:66634
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,... OMIM:610443
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Mitral regurgitation, Camptodactyly... ORPHA:2848
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... OMIM:608836
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d... OMIM:270100
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Recurrent pneumonia, Arterial rupture, Mitral valve prolapse, Aortic di... ORPHA:1900
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Cardiomegaly ORPHA:3137
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Mitral regurgitation, Mitral valve prolapse ORPHA:309155
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... OMIM:157800
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Thoracic aortic aneurysm, Cardiomegaly, Respiratory trac... ORPHA:365
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, Recurrent pharyngitis,... ORPHA:397
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Marden-Walker Syndrome
Pulmonary hypoplasia, Dextrocardia OMIM:248700
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... OMIM:154700
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Meckel Syndrome 14
Tricuspid regurgitation, Pneumothorax, Mitral regurgitation, Pulmonary hypoplasia, Single ventricle OMIM:619879
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Distal amyotrophy, Foot dorsiflexor weakness, Mitral valve prolapse ORPHA:98
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Pagod Syndrome
Sudden cardiac death, Situs inversus totalis, Pulmonary artery hypoplasia, Abnormal aortic morpho... ORPHA:991
Watson Syndrome
Pulmonic stenosis OMIM:193520
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia ORPHA:42
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Abnormal aortic morphology, ... ORPHA:2059
Atypical Werner Syndrome
Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebral vascular morphology, C... ORPHA:79474
Renal Agenesis
Hypertension, Ventricular septal defect, Pulmonary hypoplasia ORPHA:411709
Cutis Laxa, Autosomal Recessive, Type Ic
Vascular dilatation, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Emphysema, Patent fo... OMIM:613177
Czeizel-Losonci Syndrome
Pulmonary hypoplasia, Dextrocardia ORPHA:2437
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Congestive heart fail... OMIM:182250
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia OMIM:617450
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Vasculitis in the skin OMIM:620321
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Pulmonary hypoplasia OMIM:612530
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia, Hepatomegaly OMIM:606069
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Mitral stenosis, Splen... ORPHA:955
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Elbow flexion contracture, Mit... OMIM:121050
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610759
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Macroglossia, Tricus... ORPHA:261337
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Hec Syndrome
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis ORPHA:2119
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia, Abnormal heart morphology ORPHA:1865
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis,... ORPHA:96121
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm... ORPHA:466791
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs, Hepatomegaly, Splenomegaly ORPHA:2204
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Repeated pneumothoraces, Atelectasis, Mitral valve prolapse, Ascending ... ORPHA:536467
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Coarctation of aorta, Hypoplastic le... ORPHA:2308
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia OMIM:615503
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Atelectasis, Splenomegaly, Patent ductus arteriosus, Pul... OMIM:269860
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... OMIM:212138
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis OMIM:616737
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis ORPHA:896
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m... OMIM:164310
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr... ORPHA:2556
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy OMIM:618321
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... OMIM:300707
Toriello-Carey Syndrome
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog... ORPHA:3338
Atelis Syndrome 2
Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis OMIM:620185
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red... ORPHA:254892
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... ORPHA:70587
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Atelectasis, Bronchiectasis, Recurrent lower respiratory t... OMIM:620233
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Carotid artery occlusion, Mit... ORPHA:740
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia OMIM:241800
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse OMIM:247410
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... OMIM:143095
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Mosaic Trisomy 1
Pulmonary artery atresia, Ventricular septal defect, Pulmonary hypoplasia, Coarctation of aorta ORPHA:1692
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... OMIM:610978
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Meconium Aspiration Syndrome
Atelectasis, Pneumothorax, Abnormal heart rate variability, Aspiration pneumonia, Pulmonary arter... ORPHA:70588
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal aortic valve morphology, Pulmonary hypoplasia, Aortic aneurysm ORPHA:2990
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Frank-Ter Haar Syndrome
Camptodactyly of finger, Mitral valve prolapse ORPHA:137834
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:464311
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Mitral valve prolapse, Mitral reg... OMIM:601776
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Alstrom Syndrome
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly OMIM:203800
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Hypertension, Pulmonary hypoplasia,... OMIM:263200
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve OMIM:615009
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy, Hypertension OMIM:102200
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Renal Hypodysplasia/Aplasia 1
Hypertension, Pulmonary hypoplasia OMIM:191830
Cerebrofacioarticular Syndrome
Pulmonic stenosis, Abnormal heart morphology ORPHA:314679
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve, Foot joint contracture OMIM:619641
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Hypotension OMIM:267430
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:464306
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Ascending tubular aorta aneurysm, Vascular tortuosity, Emphysem... OMIM:219100
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hy... ORPHA:2970
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-re... ORPHA:550
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis ORPHA:3191
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Bicuspid aortic valve OMIM:176690
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis OMIM:618223
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl... OMIM:300166
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo... ORPHA:521411
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:139210
Leopard Syndrome 1
Bundle branch block, Complete atrioventricular canal defect, Mitral valve prolapse, Third degree ... OMIM:151100
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Situs inversus totalis, Atelectasis, Absent outer dynein arms, Bronch... OMIM:244400
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphol... OMIM:612387
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu... ORPHA:353277
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Splenomegaly, High-output congestive heart failure, Dilated cardio... ORPHA:231226
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block, Atelectasis, Pulmonary fibrosis, Bronchiolitis ORPHA:254361
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... ORPHA:465508
Lateral Meningocele Syndrome
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm OMIM:130720
Osteogenesis Imperfecta, Type I
Aortic aneurysm, Mitral valve prolapse OMIM:166200
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse ORPHA:1563
Genitopatellar Syndrome
Atrial septal defect, Pulmonary hypoplasia ORPHA:85201
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Tetrasomy 5P
Recurrent respiratory infections, Congestive heart failure, Heart murmur, Pulmonary hypoplasia, P... ORPHA:3309
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology ORPHA:500159
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
American Trypanosomiasis
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia, Ac... ORPHA:3386
Turnpenny-Fry Syndrome
Aortic regurgitation, Torticollis, Facial hypotonia, Mitral valve prolapse, Tricuspid valve prola... OMIM:618371
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonic stenosis, T... OMIM:222470
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Idiopathic Bronchiectasis
Myocardial infarction, Respiratory tract infection, Emphysema, Bronchiectasis, Acute infectious p... ORPHA:60033
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... ORPHA:230851
Legius Syndrome
Paroxysmal atrial tachycardia, Non-small cell lung carcinoma, Pulmonic stenosis, Mitral valve pro... ORPHA:137605
Temtamy Syndrome
Aortic regurgitation, Aortic aneurysm OMIM:218340
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Cartilage destruction, Myocarditis, Recurrent pharyngitis, Splenomega... ORPHA:829
Mend Syndrome
Aortic valve stenosis, Abnormal heart morphology ORPHA:401973
Cardiofaciocutaneous Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... ORPHA:1340
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Cardiomyopathy, Myopathy, Arrhythmia ORPHA:228305
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Splenomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:115150
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Su... OMIM:614114
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Pulmonary hypoplasia OMIM:214100
Feingold Syndrome Type 1
Abnormal heart morphology, Tricuspid atresia, Tricuspid stenosis, Multiple muscular ventricular s... ORPHA:391641
Beta-Thalassemia Major
Hepatomegaly, Hypoplasia of the musculature, High-output congestive heart failure, Splenomegaly, ... ORPHA:231214
Thanatophoric Dysplasia, Type I
Neonatal death, Pulmonary hypoplasia OMIM:187600
Thanatophoric Dysplasia Type 2
Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:93274
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia OMIM:224410
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Pat... OMIM:610505
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc... OMIM:617478
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Hepatomegaly, Pulmonary hypoplasia OMIM:231680
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Calcif... ORPHA:3348
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral val... OMIM:177850
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology ORPHA:199276
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Atri... OMIM:300855
Marfan Syndrome
Mitral valve calcification, Spontaneous pneumothorax, Congestive heart failure, Descending aortic... ORPHA:558
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:614080
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Pulmonary hypoplasia ORPHA:86822
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Arthrogryposis ... OMIM:232500
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Single ventricle OMIM:308050
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf... ORPHA:60032
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Pulmonic stenosis OMIM:257300
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve OMIM:617751
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death ORPHA:73224
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Ventricula... OMIM:619472
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,... ORPHA:2331
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c... ORPHA:565612
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:607721
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Atrial septal ... ORPHA:261330
Esophageal Atresia
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Coarctation of aorta, Pu... ORPHA:1199
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Splenomegaly ORPHA:1046
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cerebral berry aneurysm, Portal hypertension OMIM:210050
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... ORPHA:97360
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte... ORPHA:56
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intraventricu... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intraventricu... ORPHA:363958
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... OMIM:612289
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Facial hypotonia, Ebstein anomaly of the tricuspid valve, Distal ar... ORPHA:506358
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Abnormal heart valve morphology, Pulmonary hypoplasia ORPHA:90652
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfu... OMIM:105210
Ehlers-Danlos Syndrome, Classic Type, 1
Recurrent lower respiratory tract infections, Aortic root aneurysm, Recurrent sinusitis, Mitral v... OMIM:130000
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium mor... ORPHA:922
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Costello Syndrome
Ventricular septal defect, Pneumothorax, Mitral valve prolapse, Arrhythmia, Pulmonic stenosis, At... OMIM:218040
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... ORPHA:90348
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Meester-Loeys Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ... OMIM:300989
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Grange Syndrome
Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertension OMIM:602531
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Mend Syndrome
Aortic valve stenosis OMIM:300960
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis OMIM:617137
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy OMIM:616541
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Pulmonary hypoplasia OMIM:263520
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Abnormal internal carotid artery morphology, Abnormal lung morphology... ORPHA:97685
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Mitral regurgitation, Abnormal ... ORPHA:287
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... OMIM:242840
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Pleural effusion, As... ORPHA:453499
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Emphysema, Sma... ORPHA:36412
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Sweet Syndrome
Small vessel vasculitis, Dilated cardiomyopathy, Myositis ORPHA:3243
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Pulmonary hypoplasia ORPHA:2886
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Complete atrioventricular canal defect, Tetralogy of Fallot, Pulmonary hypoplasia OMIM:617925
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Okamoto Syndrome
Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal... ORPHA:2729
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Myocardial infarction, Mitral valve prolapse OMIM:236200
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve ORPHA:329224
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Chylothorax, Pulmonic ... OMIM:163950
Diaphanospondylodysostosis
Pulmonary hypoplasia, Enlarged kidney OMIM:608022
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated cardiomyopathy, H... ORPHA:255210
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Patent ductus arteriosus, Bidirectional shunt, Elevated pulmonary arter... OMIM:619351
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia OMIM:151210
Squalene Synthase Deficiency
Elbow flexion contracture, Bicuspid aortic valve, Knee flexion contracture OMIM:618156
Caudal Regression Syndrome
Hypertension, Pulmonary hypoplasia ORPHA:3027
Diabetic Embryopathy
Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the ... ORPHA:1926
Charge Syndrome
Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal defect, Dysplas... OMIM:214800
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Tricuspid stenosis, Heart murmur, Palpitations, Hypotension ORPHA:100079
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Oculofaciocardiodental Syndrome
Flexion contracture of the 2nd toe, Abnormal cardiac septum morphology, Flexion contracture of th... ORPHA:2712
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli... ORPHA:3260
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Portal hypertension, Raynaud phenomenon, Splenomegaly, Vasculitis, Dilated cardiomy... OMIM:615688
Tetraamelia Syndrome 2
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Cohen Syndrome
Facial hypotonia, Mitral valve prolapse OMIM:216550
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture ORPHA:89842
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Chondritis of pinna, Myocarditis, Atelectasis, Lar... ORPHA:728
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... ORPHA:904
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, Atrioventricular canal defect ORPHA:2549
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Seckel Syndrome 10
Ventricular hypertrophy, Hypertension, Abdominal aortic aneurysm, Congestive heart failure OMIM:617253
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmo... ORPHA:79282
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral... OMIM:123700
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve OMIM:616652
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Skeletal muscle atrophy, Abnormal tricuspid valve morphology, A... ORPHA:192
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Pulmonary hypoplasia OMIM:616546
Arboleda-Tham Syndrome
Recurrent respiratory infections, Ventricular septal defect, Secundum atrial septal defect, Paten... OMIM:616268
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrio... OMIM:619573
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Emphysema ORPHA:60
Sickle Cell Disease
Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly OMIM:603903
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Emphysema, Bronchiectasis ORPHA:1164
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Aortic root aneurysm OMIM:301039
Degcags Syndrome
Hepatomegaly, Tachycardia, Ventricular septal defect, Pneumonia, Patent ductus arteriosus, Hepato... OMIM:619488
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Mitral valve prolapse ORPHA:449291
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Enlarged kidney, Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Noonan Syndrome 13
Atrial septal defect, Mitral regurgitation, Mitral valve prolapse OMIM:619087
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse OMIM:618874
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Patent ductus arteriosus, Tetralogy of Fallot, Abnormal cardiac septum... ORPHA:251071
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... OMIM:264480
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:958
Shprintzen-Goldberg Craniosynostosis Syndrome
Aortic aneurysm, Mitral valve prolapse OMIM:182212
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:251230
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... OMIM:194050
Macs Syndrome
Dilation of Virchow-Robin spaces, Bronchiectasis, Aortic aneurysm OMIM:613075
Osteogenesis Imperfecta
Aortic regurgitation, Abnormal endocardium morphology, Cerebral hemorrhage, Mitral valve prolapse... ORPHA:666
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... ORPHA:85438
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect OMIM:309520
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... ORPHA:536545
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... OMIM:305620
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Greenberg Dysplasia
Hepatomegaly, Costal cartilage calcification, Abnormal lung lobation, Hepatosplenomegaly, Stillbi... OMIM:215140
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis OMIM:619708
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy, Flexion contracture, Myopathy, Weakness of facial musculature OMIM:201470
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... ORPHA:363623
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Feingold Syndrome 1
Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis OMIM:164280
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Recurrent bronchitis OMIM:604571
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Right bundle branch block, Ascen... OMIM:617403
Fryns Syndrome
Ventricular septal defect, Stillbirth, Chylothorax, Pulmonary hypoplasia, Atrial septal defect OMIM:229850
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Hepatomegaly, Cardiomegaly, Atelectasi... OMIM:618278
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... ORPHA:79330
Thanatophoric Dysplasia Type 1
Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:1860
Alport Syndrome
Renal glomerular foam cells, Hypertension, Abnormal aortic morphology, Recurrent bronchitis, Aort... ORPHA:63
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Abnormal lung lo... OMIM:270400
Meckel Syndrome, Type 1
Splenomegaly, Patent ductus arteriosus, Coarctation of aorta, Abnormal cardiac septum morphology,... OMIM:249000
Stickler Syndrome, Type I
Mitral valve prolapse OMIM:108300
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Pulmonary artery stenosis, Patent ductus arter... OMIM:235730
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia OMIM:601559
Peters Plus Syndrome
Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ... ORPHA:709
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Abnormal lung lo... OMIM:312870
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... ORPHA:580
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Pulmonary hypoplasia... ORPHA:818
Tetrasomy 9P
Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Raynaud phenomenon, Abnormal ca... ORPHA:3310
Aicardi-Goutières Syndrome
Cardiomegaly, Raynaud phenomenon, Calcification of the aorta, Hepatosplenomegaly, Aortic aneurysm... ORPHA:51
Acrocardiofacial Syndrome
Ventricular septal defect, Truncus arteriosus, Camptodactyly of finger, Atrial septal defect, Mit... ORPHA:2008
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Transposition of the great arter... OMIM:256520
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse OMIM:104350
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia OMIM:616300
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Coarctation of aorta, Aortic root aneurysm, A... OMIM:617602
Rin2 Syndrome
Aortic aneurysm ORPHA:217335
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu... ORPHA:2463
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Pulmonary insufficiency, Pulmonary hypoplasia OMIM:208500
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Hypertension, Mitral regurgit... OMIM:611962
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Flexion contracture, Bicuspid aortic valve OMIM:619720
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy... ORPHA:273
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217085
Ehlers-Danlos Syndrome, Classic-Like, 2
Mitral valve prolapse OMIM:618000
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:352665
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Abnormal hear... ORPHA:261537
Restrictive Dermopathy
Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Pulmonary hypoplasia, T... ORPHA:1662
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylope... ORPHA:538
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Enlarged kidney, Mitral valve prolapse ORPHA:730
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217093
Tuberous Sclerosis Complex
Respiratory tract infection, Cardiac rhabdomyoma, Aortic aneurysm, Hypertension, Internal hemorrh... ORPHA:805
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Abnormal lung lobation, Coarctation of aorta, Abnormal aortic morphology, S... ORPHA:1052
8P11.2 Deletion Syndrome
Atrial septal defect, Splenomegaly, Mitral valve prolapse ORPHA:251066
Lethal Kniest-Like Dysplasia
Atrial septal defect, Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Achondrogenesis
Aplasia/Hypoplasia of the lungs ORPHA:932
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, A... OMIM:105650
Penile Agenesis
Atrial septal defect, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia ORPHA:49
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis OMIM:300219
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:1263
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension, Scapular winging, Mitral valve prolapse OMIM:616914
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Camptodactyly OMIM:618529
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... ORPHA:261552
Jeune Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:474
Fanconi Renotubular Syndrome 5
Hypertension, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Restrictive Dermopathy 1
Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia, Neonatal death, Atrial septal defect OMIM:275210
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis ORPHA:2902
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... ORPHA:324
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs ORPHA:93298
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:2635
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Telangiectasia of the skin, Transient ischemic attack, Abnormal... ORPHA:286
Raine Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:259775
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, Abnormal aortic arch morpholo... ORPHA:96334
Mowat-Wilson Syndrome
Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Abnormal heart morpholog... ORPHA:2152
Fg Syndrome Type 1
Atrial septal defect, Pulmonary arterial hypertension, Progressive flexion contractures, Mitral v... ORPHA:93932
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs ORPHA:93299
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Cherry red spot of th... OMIM:230000
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur, Stroke, Bacterial endocarditis, Dil... ORPHA:1054
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs ORPHA:2145
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Cardiomyopathy, Reduced left ventricular ejection fraction, Pulmonary arterial hyper... ORPHA:258
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Aortic aneu... ORPHA:109
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia, Coarctation of aorta ORPHA:50945
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Vascular dilatation, Congestive heart failure, Dilatation ... ORPHA:90349
Reactive Arthritis
Aortic regurgitation, Pericarditis, Abnormal pleura morphology, Cartilage destruction, Pulmonary ... ORPHA:29207
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Aortic aneurysm OMIM:150250
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology ORPHA:2570
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Stroke-like episode, Intracranial hemorrhage, Pulmonary hypo... ORPHA:86309
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Neu-Laxova Syndrome
Pulmonary hypoplasia ORPHA:2671
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Spontaneous pneumothorax, Portal hypertension, Splenomegaly, Recurre... ORPHA:731
Shprintzen-Goldberg Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Mitral valve prola... ORPHA:2462
Lujo Hemorrhagic Fever
Shock, Myocarditis, Atelectasis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:65286
Farber Disease
CNS foam cells, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract... ORPHA:333
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple... OMIM:252500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Perimembranous ventricular septal defect, Pulmonary hypoplasia ORPHA:83617
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... OMIM:130650
1P36 Deletion Syndrome
Abnormal heart valve morphology, Camptodactyly of finger, Dilated cardiomyopathy, Telangiectasia,... ORPHA:1606
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal... ORPHA:1507
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Hepatomegaly, Cardiomegaly, Respiratory tract infection, Sple... ORPHA:581
Pallister-Killian Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Stillbirth, Aortic val... OMIM:601803
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve ORPHA:96169
Schinzel-Giedion Syndrome
Recurrent pneumonia, Pulmonary hypoplasia, Abnormal heart morphology ORPHA:798
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Splenomegal... ORPHA:84064
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Congestive heart failure,... OMIM:619475
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Macroglossia, Arrhythmia, Tetralogy of Fallot ORPHA:261494
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Mitral v... OMIM:259600
Zygomycosis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Hematemesis, Myocarditis, Atelectasis, Pneu... ORPHA:73263
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections, Vascular dilatation ORPHA:2314
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Reti... ORPHA:567
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Fraser Syndrome 1
Pulmonary hypoplasia, Abnormal heart morphology OMIM:219000
Vacterl/Vater Association
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology ORPHA:887
Multiple Pterygium Syndrome, Escobar Variant
Pulmonary hypoplasia OMIM:265000
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuosity, Bradycardi... OMIM:614437
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Flexion contracture, Cardiomyopathy, Mitral ... OMIM:253200
Joubert Syndrome 21
Splenomegaly, Pulmonary hypoplasia OMIM:615636
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... OMIM:249420
Focal Dermal Hypoplasia
Ventricular septal defect, Telangiectasia of the skin, Patent ductus arteriosus, Aplasia/Hypoplas... ORPHA:2092
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aorta, Hypertension, ... OMIM:220111
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... ORPHA:500095
Vacterl With Hydrocephalus
Pulmonary hypoplasia ORPHA:3412
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Splenomegaly, Vasculitis, Bronchiectasis, Emphysema,... ORPHA:1572
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis OMIM:617260
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... ORPHA:97297
Orofaciodigital Syndrome Type 4
Bilateral lung agenesis, Recurrent respiratory infections, Absent crus of helix, Pulmonary hypopl... ORPHA:2753
Opitz Gbbb Syndrome
Enlarged ovaries, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology,... ORPHA:2745
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Macroglossia, Mitral valve prolapse ORPHA:369950
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Calcification of the auricular cartilage, Transient ischemic attack, Med... ORPHA:51608
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, E... OMIM:242700
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... OMIM:612474
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Congenital malformation of the left heart, Dysplastic pulmonary valve, Pul... ORPHA:3455
Tetraploidy
Aplasia/Hypoplasia of the lungs ORPHA:3305
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:2063
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Abnormal cardiac septum morphology, Mitral atresia ORPHA:140952
Choreoacanthocytosis
Hepatomegaly, Peroneal muscle atrophy, Splenomegaly, Dilated cardiomyopathy, Myopathy, Distal amy... ORPHA:2388
Loeys-Dietz Syndrome
Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissec... ORPHA:60030
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:3429
Phace Syndrome
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... ORPHA:42775
Blau Syndrome
Pericarditis, Splenomegaly, Large vessel vasculitis, Hypertension, Pulmonary arterial hypertensio... ORPHA:90340
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Right bundle branch block, ... OMIM:617402
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great ar... OMIM:280000
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:1112
Peters-Plus Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:261540
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Flexion contracture, Foot joint contracture ORPHA:79408
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... ORPHA:536532
Genitopatellar Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia OMIM:606170
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Double outlet right ventricle, Pulmonary arterial hypertension, Mitral... ORPHA:163956
Epidermal Nevus Syndrome
Aortic aneurysm ORPHA:35125
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the lungs, ... ORPHA:2162
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness ORPHA:14
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... OMIM:620305
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Distal lower limb muscle weakness, Elbow flexion contracture, Mitral valve prolapse ORPHA:508533
Moderate Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Cartilage destruction, Intraventricular hemorrh... ORPHA:169805
Loeys-Dietz Syndrome 5
Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Ascending aortic dissectio... OMIM:615582
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis, Portal hypertension OMIM:620365
Digeorge Syndrome
Ventricular septal defect, Atelectasis, Splenomegaly, Recurrent pneumonia, Patent ductus arterios... OMIM:188400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Pulmonary arterial hyperten... ORPHA:280633
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy, Aorti... OMIM:135500
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... ORPHA:508498
Craniofacial Microsomia 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Pul... OMIM:164210
Immunodeficiency 23
Recurrent respiratory infections, Aortic root aneurysm, Bronchiectasis, Vasculitis in the skin OMIM:615816
Fetal Akinesia Deformation Sequence 1
Stillbirth, Pulmonary hypoplasia OMIM:208150
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia OMIM:616503
Nocardiosis
Pericarditis, Abnormal heart valve morphology, Pneumonia, Pneumothorax, Endocarditis, Pleural eff... ORPHA:31204
Sotos Syndrome
Ventricular septal defect, Small cell lung carcinoma, Patent ductus arteriosus, Abnormal heart mo... ORPHA:821
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Bronchiectasis, Abnormal pulmonary interstitial... OMIM:181000
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Congestive heart fa... OMIM:256040
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Spleno... OMIM:619991
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:613355
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Heart murmur, Mitral valve prolapse, Abnormal heart morphology, Mitral regurgitatio... OMIM:615873
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs ORPHA:1834
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Splenomegaly, Atelectasis, Recurrent pneumonia, Pleural effusion OMIM:306400
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:3301
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Splenomegal... OMIM:243800
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
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... ORPHA:116
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... OMIM:271640
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Abnormal heart valve morphology, Aplasia/Hypoplasia of the lung... ORPHA:280
Holzgreve Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2167
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99228
Monosomy X
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:881
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root ... ORPHA:90324
Fraser Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2052
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Pulmonary hypoplasia OMIM:309800
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... ORPHA:3472
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... OMIM:601992
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Aortic root aneurysm OMIM:618891
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Muscle hypertrophy of the lower extrem... ORPHA:1772
Charge Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aort... ORPHA:138
Stickler Syndrome
Macroglossia, Skeletal muscle atrophy, Arrhythmia, Mitral valve prolapse ORPHA:828
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Flexion contracture, Mitral valve prolapse, Perimembranous ventricular... OMIM:180849
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve OMIM:218330
Ulbright-Hodes Syndrome
Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Portal hypertension, Ascending aorta hypoplasia, Muscu... OMIM:619503
Multiple Osteochondromas
Pseudoaneurysm, Abnormal cartilage morphology, Pneumothorax, Hemothorax ORPHA:321
Proximal Renal Tubular Acidosis
Hypovolemia, Subvalvular aortic stenosis ORPHA:47159
Kniest Dysplasia
Abnormal cartilage collagen OMIM:156550
Spondyloepiphyseal Dysplasia Tarda
Abnormal cartilage morphology ORPHA:93284
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Pulmonary hypoplasia ORPHA:93271
Trichorhinophalangeal Syndrome, Type Ii
Scapular winging, Bicuspid aortic valve, Myocardial infarction, Partial anomalous pulmonary venou... OMIM:150230
Alström Syndrome
Hepatomegaly, Portal hypertension, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy... ORPHA:64
Chand Syndrome
Atelectasis ORPHA:1401
Oculocerebrorenal Syndrome Of Lowe
Atelectasis, Recurrent respiratory infections ORPHA:534
Kniest Dysplasia
Abnormal cartilage collagen ORPHA:485
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm OMIM:615349
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Ascending tubular aorta aneurysm, Arrhythmia, Arterial dissection ORPHA:285
Au-Kline Syndrome
Hypertension, Aortic root aneurysm OMIM:616580

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 Hbegf

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 Hbegf.

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

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MGI Allele Allele Type Produced
Hbegftm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Hbegftm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hbegftm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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