Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
retinoid X receptor alpha
Synonyms:
9530071D11Rik,  RXR alpha 1,  RXRalpha1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Rxra 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 Rxra by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Cardiomyopathy, Dilated, 1Ee
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613252
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Hypoplasia of th... ORPHA:185
Cardiomyopathy, Dilated, 1M
Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac... OMIM:607482
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor... ORPHA:2299
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613286
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Congenital Heart Defects, Multiple Types, 9
Left axis deviation, Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pu... OMIM:620294
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:606685
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cirrhotic Cardiomyopathy
Left atrial enlargement, Prolonged QT interval, Third heart sound, Ascites, Arrhythmia, Left vent... ORPHA:57777
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Abnormal descending aorta morphology, Aortopulmonary window, Lef... ORPHA:99050
Congenital Gerbode Defect
Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis... ORPHA:99095
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Peripheral edema, Hepatomegaly, Recurrent respiratory i... ORPHA:75249
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Supravalvular Aortic Stenosis
Pulmonic stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial ... OMIM:185500
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Persistent left superior vena cava, ... OMIM:614954
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Supraventricular arrhythmia, Pulmonary arteria... ORPHA:99105
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi... OMIM:181350
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmon... ORPHA:422
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Pulmonary sequestration, Aplasia of the left hemidiaphragm, Abno... ORPHA:2847
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Cardiomyopathy, Dilated, 2A
Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula... OMIM:611880
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Facial palsy, Hypertrophic car... OMIM:619424
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h... ORPHA:98912
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Eisenmenger Syndrome
Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Rig... ORPHA:97214
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Aortic aneurysm, Myocardial sarc... OMIM:612422
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Cardiomyopathy, Dilated, 1J
Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card... OMIM:605362
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Endocardial fibrosis, Hyperdynamic left ventricular ejection fraction, ... OMIM:613255
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Stroke, Per... OMIM:614022
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Recurrent lower respiratory tract infections, Dextrocardia, Bronch... OMIM:618254
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Severely reduced left ventricular ejection fraction, Calf muscle hypert... OMIM:611705
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Elevated circulatin... OMIM:619048
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Abnormal cardiac ventricular function, Abnormality of the hepatic vasculature, Mids... ORPHA:1677
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Candidiasis, Familial, 1
Cutaneous anergy, Alopecia OMIM:114580
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Coronary artery calcification, Reduced left ventricular ejection fracti... OMIM:614473
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Heterotaxy, Visceral, 1, X-Linked
Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena... OMIM:306955
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Left ventricular outflow tract obstruction, Hypoplastic pulm... OMIM:613854
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hy... OMIM:616276
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis OMIM:203655
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol... OMIM:614676
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Coronary artery atherosclerosis, Angina pe... OMIM:264800
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Elbow flexion contracture, Increased variabi... OMIM:619461
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Pneumonia, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Stro... ORPHA:99104
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Recurrent ... OMIM:620570
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... ORPHA:1880
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Timothy Syndrome
Pneumonia, Prolonged QT interval, Bradycardia, Bronchitis, Patent foramen ovale, Pulmonary arteri... OMIM:601005
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal... ORPHA:860
Desminopathy
Congestive heart failure, Distal lower limb muscle weakness, Concentric hypertrophic cardiomyopat... ORPHA:98909
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia ORPHA:169095
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Polyhydramnios, Webbed neck, Aortic root aneurysm, Aortopulmonary window, Aplasia o... OMIM:620025
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death, Reduced left v... OMIM:620203
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Hypoplastic spleen, N... OMIM:619313
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Congenital Myopathy 24
Facial palsy, Cardiomyopathy, Nemaline bodies, Scapular winging, First degree atrioventricular bl... OMIM:617336
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Hepatomegaly, Elevated circulating h... OMIM:212138
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Cardiomyopathy, Sca... OMIM:608099
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi... OMIM:616028
Adams-Oliver Syndrome 6
Truncus arteriosus, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Hepatic fibrosis,... OMIM:616589
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Neonatal Lupus Erythematosus
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Prolonged QT interval, Hea... ORPHA:398124
Familial Atrial Myxoma
Congestive heart failure, Jaundice, Vascular dilatation, Dilatation of the cerebral artery, Bacte... ORPHA:615
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... OMIM:614980
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,... ORPHA:555877
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Stillbirth, Hepatomegaly, Truncus arteriosus, Cho... OMIM:615415
Scheie Syndrome
Aortic valve stenosis, Mitral stenosis, Aortic regurgitation OMIM:607016
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi... ORPHA:154
Noonan Syndrome 10
Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarc... OMIM:616564
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial septal defect, Ve... ORPHA:401935
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ... ORPHA:206546
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Abnormal aortic morphology, Anomal... ORPHA:392
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia ORPHA:505
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Pulmonary artery atresia, Left superior vena cava draining directly to... OMIM:613759
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Right Ventricular Hypoplasia, Isolated
Hypoplasia of right ventricle OMIM:277200
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Bic... OMIM:618845
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Dermal translucency, Arterial rupture OMIM:619115
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Bronchiecta... OMIM:619705
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Bradycardia, Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyo... OMIM:618815
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:616198
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Webbed neck, Truncus arteriosus, Abnormal aortic morphology, Ventricular ... ORPHA:2516
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Hepatomegaly, Atelectasis, Recurrent lower respirator... OMIM:620233
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Winchester Syndrome
Hirsutism, Corneal opacity, Kyphosis OMIM:277950
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block, Abnormal cardiac septum morphology ORPHA:1479
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr... OMIM:611878
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure, Neonatal death OMIM:301021
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Muscle fiber hyaline bodies, Type 1 muscle fiber predominance, Fourth h... OMIM:255160
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent sinusitis, Recurrent respir... ORPHA:85202
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, Nail dystrophy, Ridged nail, T lymphocytopenia, Nail pits, Al... OMIM:601705
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Webbed neck OMIM:601355
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Gaucher Disease, Type Iiic
Calcification of the aorta, Mitral valve calcification, Mitral stenosis, Aortic valve calcificati... OMIM:231005
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Cardiomyopathy, Familial Hypertrophic, 28
Left atrial enlargement, Systolic anterior motion of the mitral valve, Concentric hypertrophic ca... OMIM:619402
Double Outlet Right Ventricle
Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aort... ORPHA:3426
Aorto-Ventricular Tunnel
Congestive heart failure, Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hype... ORPHA:3400
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Stroke, Cardiac arrest, Pallor, Paroxysmal atrial tachycardia, Atrial s... ORPHA:49827
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Coronary artery f... OMIM:619343
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Atrial septal defect, Mitral stenosis, Hypoplastic left heart OMIM:617660
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Severely reduced left ventricular ejection frac... OMIM:620635
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Redundant neck skin, Patent ductus arteriosus, Pulmonary artery atresia, Supravalvar pulmonary st... OMIM:618164
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ... OMIM:617294
Wild Type Attr Amyloidosis
Congestive heart failure, Abnormal pulmonary interstitial morphology, Hepatomegaly, Pulmonary ede... ORPHA:330001
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Patent ductus arteriosus, Dysplastic pulmonary valve, Right ventric... OMIM:612863
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613313
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal tricuspid valve mor... ORPHA:90308
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Webbed neck, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, S... OMIM:617478
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defe... OMIM:108900
Glycogen Storage Disease Iv
Cirrhosis, Hydrops fetalis, Polyhydramnios, Bradycardia, Cardiomyopathy, Ascites, Portal hyperten... OMIM:232500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Pneumonia, Jaundice, Elevated circulating hepatic transaminase concentratio... ORPHA:26793
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Dila... OMIM:602390
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hepatomegaly, Macrovesicular hepatic steatosis, Wolff-Parkinson-White s... OMIM:618234
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Acrocardiofacial Syndrome
Truncus arteriosus, Camptodactyly of finger, Coarctation of aorta, Mitral stenosis, Tetralogy of ... ORPHA:2008
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Geleophysic Dysplasia 2
Tricuspid stenosis, Pulmonary arterial hypertension, Aortic valve stenosis, Mitral stenosis, Mitr... OMIM:614185
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c... ORPHA:75565
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Peripheral pulmonary ... OMIM:610205
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Galactosialidosis
Abnormal vertebral morphology, Corneal opacity, Abnormality of the vertebral column ORPHA:351
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Microvesicular hepatic steatosis, Noncompaction ... OMIM:610198
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardio... OMIM:614702
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Hypertension, Sinus tachycardia, Right bundle branch block, Pulmonary ar... OMIM:614008
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Hypertension, Ascites, Pulmonary arterial hypertension, Nonimmune hydro... OMIM:617021
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Mitral atresia, Pulmonic stenosis, Patent ductus arteriosus, Atrial sep... OMIM:614609
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Microvesicular hepatic steatosis, Reduced muscle carnitin... OMIM:212140
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Pulmonary artery stenosis, Mitral atresia, Aortic regurgitation, Abnormal cardiac septum morphology ORPHA:140952
Cardiac Valvular Dysplasia, X-Linked
Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T... OMIM:314400
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Distal Deletion 15Q
Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal aortic arch morphology, Hypop... ORPHA:1596
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop... ORPHA:1067
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Dermal translucency, Polyhydramnios, Hypoplastic aortic arch, Webbed neck, Aortic root aneurysm, ... OMIM:617506
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98853
Dk1-Cdg
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Abnormal circu... ORPHA:91131
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl... OMIM:252011
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Congestive heart failure, Abnormal circulating enzyme concentration or ... ORPHA:70472
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation... OMIM:607624
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Atelectasis, Dextrocardia, Pulmonary arterial hypertension, Bronchiectasi... OMIM:615067
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Cornea... OMIM:271530
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Abn... ORPHA:42665
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Right aortic arch with mirror image branc... OMIM:601186
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Iris cyst, Ptosis, Hypoplasia of the fovea, Epicanthus, Upslanted palpebral fissure OMIM:620086
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... OMIM:120200
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hepatomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Asci... ORPHA:2414
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Hydrops fetalis, Ascites, Splenomegaly, Cardiomegaly OMIM:269920
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Pierre Robin Syndrome
Cor pulmonale OMIM:261800
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Severely reduced left ventricular ejection fraction, Elevated circulati... OMIM:620609
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Abnormal aortic valve morphology, Hepatomegaly, Hypertrophic cardiomyop... ORPHA:1194
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:75389
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Abnormal heart valve morphology, Mitral valve prolapse ORPHA:2868
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopathy ORPHA:369847
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Alveolar capillary ... OMIM:265380
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating... ORPHA:367
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Hepa... ORPHA:732
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:235200
Histiocytoid Cardiomyopathy
Congestive heart failure, Pulmonary edema, Atrial flutter, Wolff-Parkinson-White syndrome, Hepato... ORPHA:137675
Classic Multiminicore Myopathy
Muscular dystrophy, Congestive heart failure, Weakness of facial musculature, Generalized amyotro... ORPHA:324604
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, T-wave inversion, Anas... OMIM:261740
Recombinant Chromosome 8 Syndrome
Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet ri... OMIM:179613
Noonan Syndrome 2
Abnormal coronary artery origin, Atrioventricular canal defect, Patent foramen ovale, Cardiomyopa... OMIM:605275
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Camptodactyly, Left... ORPHA:363444
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri... ORPHA:251071
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Calf muscle hypertrophy, Right bundle branch block, Scapul... ORPHA:206559
Congenital-Onset Steinert Myotonic Dystrophy
Polyhydramnios, Facial hypotonia, Bundle branch block, Patent ductus arteriosus, First degree atr... ORPHA:589821
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Abnormal vena cava morphology, Pulmonary arterial hypertension, Mitral sten... ORPHA:163956
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Heart block, Premature ventricular contraction ORPHA:1964
X Small Rings
Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect, Aortic root aneurysm ORPHA:96201
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio... OMIM:619167
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Petechiae, Pl... OMIM:617397
Familial Dyskinesia And Facial Myokymia
Facial myokymia, Dilated cardiomyopathy, Congestive heart failure, Limb hypertonia ORPHA:324588
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Elevated circulating hepatic transaminase concentration, Prol... ORPHA:66634
Emanuel Syndrome
Congenital diaphragmatic hernia, Torticollis, Recurrent respiratory infections, Truncus arteriosu... OMIM:609029
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Coarctation of aorta, Atrioventricular block, Mitral valve prolapse, Bicuspid aorti... ORPHA:371428
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... OMIM:618280
Microphthalmia/Coloboma 4
Coloboma OMIM:251505
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Atelis Syndrome 2
Short palpebral fissure, Thick lower lip vermilion, High palate, Remnants of the hyaloid vascular... OMIM:620185
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis, Thoracic hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Anterior c... OMIM:117850
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricular canal defect, Abnormal he... DECIPHER:39
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Ascending tubular aorta aneurysm, Dy... OMIM:620067
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy OMIM:614654
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Ed... ORPHA:3386
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Hydrops fetalis, Recurrent lower respiratory tract infect... OMIM:253250
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosi... ORPHA:228410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Muscular dystrophy, Death in childhood, Retinal dysplasia, Encephalocele, Retinal detachment, Opt... OMIM:614643
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Pulmonary insufficiency, Pulmonary artery aneurysm, Dermal trans... OMIM:614437
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Cholelithiasis, Bradycardia, Hypertrophic cardiomyopathy, Pericardi... OMIM:618775
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Dermal translucency, Arterial tortuosity, Vertebral artery aneur... OMIM:619656
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Cutis laxa, Lower eyelid edema, Arrhythmia, A... ORPHA:363705
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Atrial Standstill 2
Vascular dilatation, Bradycardia, Stroke, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ve... OMIM:615745
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus OMIM:617516
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Remnants of the hyaloid vascular system, Ret... OMIM:221900
Leopard Syndrome 1
Webbed neck, Scapular winging, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prola... OMIM:151100
Down Syndrome
Redundant neck skin, Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen oval... OMIM:190685
Oculofaciocardiodental Syndrome
Flexion contracture of the 2nd toe, Flexion contracture of the 4th toe, Mitral valve prolapse, Pa... ORPHA:2712
De Barsy Syndrome
Dermal translucency, Excessive wrinkled skin, Hypoplastic aortic arch, Prominent veins on trunk, ... ORPHA:2962
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
L-Ferritin Deficiency
Alopecia OMIM:615604
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Bilateral lung agenesis, Pulmonary artery stenosis, Congenital p... OMIM:611812
Ogden Syndrome
Torticollis, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia, Ventricular septal defect ORPHA:276432
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Mesenteric cyst, Recurrent respiratory infections, Webbed neck, Patent fo... OMIM:618316
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Camptodactyly, Pulmonic stenosis, Aortic dissection, Varicose veins, Dermal ... OMIM:618343
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven... OMIM:612946
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... ORPHA:1457
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Melanocytic nevus, Alopecia uni... ORPHA:1008
Emanuel Syndrome
Congenital diaphragmatic hernia, Redundant neck skin, Multiple joint contractures, Recurrent resp... ORPHA:96170
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Neuroocular Syndrome
Highly arched eyebrow, Stellate iris, Umbilical hernia, Nasolacrimal duct obstruction, Short uvul... OMIM:619539
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ... OMIM:609286
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Developmental And Epileptic Encephalopathy 111
Hypertension, Sinus tachycardia, Premature ventricular contraction, Pulmonary artery stenosis, Re... OMIM:620504
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Mitral valve prolapse, Small hypothenar eminence, Small thenar eminence, Joint con... OMIM:211960
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia ORPHA:499
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Refsum Disease, Classic
Congestive heart failure, Reduced phytanic acid oxidase activity in cultured fibroblasts, Cardiom... OMIM:266500
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy ORPHA:53296
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Microvesicular... OMIM:611126
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g... OMIM:600001
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hepatomegaly, Polyhydramnios, Hydrops fetalis, Pericarditis, Splenomega... ORPHA:163596
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarctation of aorta, Mitral stenosis, Patent ductus arteriosus OMIM:617260
Hereditary Butyrylcholinesterase Deficiency
Congestive heart failure, Myocardial infarction ORPHA:132
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Coarctation of aorta, Atrial septal defect, Ventricular septal d... OMIM:264480
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Limb hypertonia, Aortic aneurysm, Multiple muscular ventricular septal defects, P... OMIM:620070
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Claw hand deformity, Lower limb amyotrophy, Upper limb muscle weakness, Optic disc... OMIM:618511
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure, Polyhydramnios, Facial hypotonia, Decreased muscle mass, Atrial septal ... ORPHA:500533
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Facial myokymia, Dilated cardiomyopathy, Congestive heart failure, Limb hypertonia OMIM:606703
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Pulmonary edema, Aortic valve atresia, Microvesicular hepatic steatosis, Hypertension, Hypertroph... OMIM:220111
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Increased pulmonary vascular resistance, Elevated right atrial... OMIM:178600
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab... ORPHA:1055
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Microphthalmia, Syndromic 2
Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve prolapse, Umbilical hernia, L... OMIM:300166
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Hypertension, Hypertrophic cardiomyopathy, Di... ORPHA:1349
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Scaling skin, Cholestasis, Cutis laxa, Hepatic steatosis, Oligohydramnios, Transposition of the g... OMIM:619503
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Cardiomyopathy, Familial Hypertrophic, 2
Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri... OMIM:115195
Atransferrinemia
Congestive heart failure OMIM:209300
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Dietary Iron Overload Disease
Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H... ORPHA:139507
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Congestive heart failure, Calf muscle pseudohypertrophy, Calf muscle hypertro... OMIM:310200
Alkaptonuria
Aortic aneurysm, Abnormal heart valve morphology, Hypertension, Thickened Achilles tendon, Mitral... ORPHA:56
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase... OMIM:616866
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Noonan Syndrome 3
Tricuspid valve prolapse, Polyhydramnios, Webbed neck, Patent foramen ovale, Hypertrophic cardiom... OMIM:609942
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Mucopolysaccharidosis, Type Vi
Pulmonary insufficiency, Sinus tachycardia, Cardiomyopathy, Pulmonary arterial hypertension, Tric... OMIM:253200
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Morquio Syndrome C
Platyspondyly, Corneal opacity OMIM:252300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... ORPHA:369929
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Camptodactyly OMIM:618804
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hepatomegaly, Hydrops fetalis, Abnormal heart valve morphology, Hypertr... OMIM:230500
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Retinal detachment, Remnants of the hyaloid vascular system, Cleft palate, L... ORPHA:2714
Meier-Gorlin Syndrome 7
Meconium peritonitis, Heart block, Pulmonary hypoplasia, Atrial septal defect, Ventricular septal... OMIM:617063
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentratio... OMIM:614876
Mitral Valve Prolapse 1
Mitral regurgitation, Mitral valve prolapse OMIM:157700
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Alopecia totalis, Hyperpigmentation of the skin OMIM:302000
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Hydrops fetalis, Elevated circulating hepatic transaminase concentratio... OMIM:609015
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventri... OMIM:126320
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Stroke, Precocious atherosclerosis, Thin skin, Skeletal muscle atrop... ORPHA:230839
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Cirrhosis, Hepatomegaly, Atherosclerosis, Abnormality of skeletal muscl... ORPHA:79083
Acyl-Coa Dehydrogenase 9 Deficiency
Congestive heart failure, Cerebellar hemorrhage, Elevated circulating hepatic transaminase concen... ORPHA:99901
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, Thora... OMIM:616166
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Death in childhood, Rod-cone dystrophy OMIM:609055
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia, Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Ectopia lentis, Hyp... ORPHA:2325
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Ischemic stroke, Aortic regurgitation, Aortic root aneurysm, Ven... OMIM:208050
Alg9-Cdg
Abnormal lung lobation, Atrial septal defect, Hepatomegaly, Hydrops fetalis, Torticollis, Abnorma... ORPHA:79328
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se... OMIM:619657
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Abnormal pulmonary interstitial morphology, Myositis, Scap... ORPHA:206569
Refsum Disease
Heart block, Cardiomyopathy, Dry skin, Splenomegaly, Skeletal muscle atrophy ORPHA:773
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy, Limb muscle weakness, Skeletal muscle atrop... ORPHA:329336
Mass Syndrome
Ascending aortic dissection, Mitral valve prolapse, Aortic aneurysm OMIM:604308
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hepatomegaly, Atherosclerosis, Abnormality of skeletal muscle fiber siz... ORPHA:2348
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Hirsutism, Kyphosis, Synophrys, Decreased circulating IgG level, Decreased circulating... OMIM:300861
Fabry Disease
Congestive heart failure, Ventricular septal hypertrophy, Angina pectoris, Hypertension, Transien... OMIM:301500
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Emphysema, Aortic regurgitation, Mitral regurgitation, Bronchiectasis, ... OMIM:123700
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Hamamy Syndrome
Atrial septal defect, Mitral regurgitation, Complete atrioventricular canal defect, Prolonged QRS... OMIM:611174
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Elevated circulating alkaline phosphatase concentration, Rimmed vacuole... ORPHA:52430
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Hyperpigmentation of... OMIM:129500
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cleft palat... ORPHA:90654
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hirsutism, Kyphosis ORPHA:85288
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Polyh... OMIM:301056
Pierson Syndrome
Posterior lenticonus, Death in childhood, Hypoplasia of the ciliary body, Retinal detachment, Ret... OMIM:609049
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Autosomal Dominant Cutis Laxa
Congestive heart failure, Redundant neck skin, Dermal translucency, Emphysema, Aortic regurgitati... ORPHA:90348
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Flynn-Aird Syndrome
Cataract, Alopecia of scalp, Kyphoscoliosis, Alopecia OMIM:136300
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar scaling skin, Congestive heart failure, Palmoplantar erythema, Cardiomyocyte hypertr... OMIM:605676
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Descending ao... OMIM:610168
Fabry Disease
Abnormal endocardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Emph... ORPHA:324
Dermoids Of Cornea
Corneal opacity OMIM:304730
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Holt-Oram Syndrome
Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Pulmonic stenosis, Mitra... OMIM:142900
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Emphysema, Abnormal cardiac ventricle morphology, Aortic root aneurysm,... ORPHA:284979
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septa... OMIM:249670
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:1909
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Oculopalatocerebral Syndrome
Cleft palate, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Abnormal jugular vein morphology, P... ORPHA:275766
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Wea... OMIM:620265
Arterial Tortuosity Syndrome
Myocarditis, Abnormal carotid artery morphology, Congestive heart failure, Vascular dilatation, A... ORPHA:3342
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventr... ORPHA:444013
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Alopecia, Mixed hypo- and hyperpigmentatio... ORPHA:79397
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Patent foramen ovale, Distal amyotrophy, Persistent left superior vena cava, Abn... ORPHA:477817
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Hypoplasia of right ventricle, Transposition of the great arteri... ORPHA:2255