Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
GATA binding protein 4
Synonyms:
Gata-4

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 Gata4 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.

The table below shows human diseases predicted to be associated to Gata4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
46,Xy Sex Reversal 9
Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia, Sex reversal OMIM:616067
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia OMIM:306950
46,Xy Sex Reversal 8
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism OMIM:614279
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
46,Xy Ovotesticular Difference Of Sex Development
Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita... ORPHA:325345
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septa... OMIM:249670
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Peripheral edema, Pulmonary edema, Atrial fibrillation, Supraventricular... ORPHA:75249
Supravalvular Aortic Stenosis
Pulmonic stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial ... OMIM:185500
Aortic Valve Disease 2
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Patent foramen ovale, Aortic t... OMIM:614823
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Aortic aneurysm, Myocardial sarc... OMIM:612422
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Left ventricular outflow tract obstruction, Hypoplastic pulm... OMIM:613854
Congenital Gerbode Defect
Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis... ORPHA:99095
Isochromosomy Yq
Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonadal tissue inappropr... ORPHA:98798
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Hypoplasia of th... ORPHA:185
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Coronary artery calcification, Reduced left ventricular ejection fracti... OMIM:614473
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Premature birth, Atrial septal defect, Ventricular septal defect... ORPHA:1909
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal defect, Bicornuate u... OMIM:615524
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Restrictive cardiomyopathy, Facial palsy, Hypertrophic cardiomyopathy, R... OMIM:619424
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Azoospermia ORPHA:98797
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus, Ambiguous genitalia, Cryptorchi... OMIM:615542
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Atrial septal defect, Atrial fibrillation, Aortic valve stenosis, Tetralog... OMIM:617912
Fetal Parvovirus Syndrome
Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency ORPHA:295
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal defect, Ventr... OMIM:614262
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl... ORPHA:57777
46,Xx Sex Reversal 4
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... OMIM:617480
Beemer Lethal Malformation Syndrome
Ambiguous genitalia OMIM:209970
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Restrictive cardiomyopathy, Ascites, Tricuspid regurgit... OMIM:619433
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Pulmonic stenosis... OMIM:601186
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal heart morphology, Atrial... DECIPHER:39
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve... ORPHA:3092
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent... ORPHA:2041
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor... ORPHA:2299
Congenital Heart Defects, Multiple Types, 9
Left axis deviation, Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pu... OMIM:620294
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Peripheral edema, Cardiomegaly, Reduced left ventricular ejection... ORPHA:1677
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
46,Xy Sex Reversal 1
Gonadal dysgenesis, Abnormal female external genitalia morphology, Abnormal male external genital... OMIM:400044
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Serkal Syndrome
Congenital diaphragmatic hernia, Hypospadias, Abnormal penis morphology, Pulmonic stenosis, Pulmo... ORPHA:139466
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Ascending tubular aorta aneurysm, Tr... OMIM:620067
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... ORPHA:555874
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Bifid scrotum, Urogenital sinus anomaly, Cryptorc... ORPHA:753
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
46,Xy Sex Reversal 6
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Chordee, Gonadoblastoma, Dysgerminoma, Sex... OMIM:613762
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Congenital Myopathy 11
Atrial septal defect, Patent foramen ovale, Weakness of facial musculature, Patent ductus arteriosus OMIM:619967
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... OMIM:614980
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum ... OMIM:618841
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Sex reversal OMIM:613080
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Abnormal heart valve morphology, Mitral valve prolapse ORPHA:2868
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:618499
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Abnormal morphology of female internal gen... ORPHA:2141
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Stroke, Transie... ORPHA:99104
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Persistent left superior vena cava, ... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Gonadal dysgenesis, male, Do... OMIM:231060
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Bradycardia, Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyo... OMIM:618815
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonary... ORPHA:2414
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia OMIM:613571
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,... ORPHA:555877
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, Ab... ORPHA:3405
Transaldolase Deficiency
Hydrops fetalis, Coarctation of aorta, Edema, Atrial septal defect, Biventricular hypertrophy, Te... ORPHA:101028
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ... OMIM:132900
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Ambiguous genitalia, female, Male pseudohermaphrod... OMIM:194080
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Cryptorchidism, Tetralogy of Fallot, Abnormality of the pulmonar... ORPHA:1166
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis ORPHA:3449
Nephronophthisis 16
Situs inversus totalis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic valve stenosis, Pa... OMIM:615382
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Displacement of the papillary muscl... ORPHA:1329
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Meacham Syndrome
Congenital diaphragmatic hernia, Abnormal vagina morphology, Hypoplasia of penis, Pulmonary seque... ORPHA:3097
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ... OMIM:619149
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Recurrent lower respiratory tract infections, Dextrocardia, Bronch... OMIM:618254
Sarcosinemia
Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy ORPHA:3129
Heterotaxy, Visceral, 1, X-Linked
Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena cava, Transposit... OMIM:306955
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Omphalocele, Pulmonary hypoplasia,... OMIM:601163
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Hydrops Fetalis
Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Twin-to-twin transfusion, ... ORPHA:1041
Nuchal Bleb, Familial
Stillbirth, Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Pseudovaginal Perineoscrotal Hypospadias
Ambiguous genitalia, male, Bifid scrotum, Cryptorchidism, Perineal hypospadias, Micropenis OMIM:264600
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Descending thoracic aorta aneurys... ORPHA:229
Congenital Tracheomalacia
Pneumothorax, Pneumonia, Partial anomalous pulmonary venous return, Emphysema, Right aortic arch,... ORPHA:95430
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:619189
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Hydrops fetalis, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding ... OMIM:601927
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Abnormality of the amniotic fluid, Joint contracture, Nonimmune hydrops fetalis, ... OMIM:608540
Aorto-Ventricular Tunnel
Congestive heart failure, Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hype... ORPHA:3400
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Hypospadias, Abnormal vas de... ORPHA:755
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosi... ORPHA:228410
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricular septal defect, Pr... OMIM:253300
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Testicular microlithiasis, Decreased circulating luteinizing hormon... OMIM:228300
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Cardiomegaly, Atrial sep... OMIM:618652
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano... ORPHA:99094
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Abnormal heart valve morphology, Emphysema, Flexion contracture ORPHA:171719
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion, Fetal ascites OMIM:619462
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Ovotestis, Hypospadias, Bilateral lung agenesis, Pulmonary arter... OMIM:611812
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect, Pulmonary arterial hypertension OMIM:614475
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulating hormone level, E... OMIM:301077
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr... OMIM:270100
Grange Syndrome
Aortic regurgitation, Hypertension, Arterial stenosis, Patent ductus arteriosus, Ventricular sept... ORPHA:79094
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Spinal muscular atrophy, Increased variability in muscle fiber diameter, Sk... OMIM:616867
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
46,Xx Sex Reversal 5
Increased serum testosterone level, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, ... OMIM:618901
Metachondromatosis
Pulmonic stenosis OMIM:156250
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
Meckel Syndrome 14
Pneumothorax, Aplasia of the uterus, Tricuspid regurgitation, Increased nuchal translucency, Olig... OMIM:619879
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi... OMIM:616028
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Oligozoospermia, Testicular atrophy, Delayed menarche, Female hypog... ORPHA:52901
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Septate vagina, Congenital alveolar dysplasia, Blind vag... OMIM:608978
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Bradycardia, Cardiomyopathy, Ascites, Portal hypertension, Flexi... OMIM:232500
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... ORPHA:90308
Recombinant Chromosome 8 Syndrome
Camptodactyly, Cryptorchidism, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, ... OMIM:179613
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Abnormal heart morphology, Emphysema OMIM:614100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Stroke, Cardiac arrest, Pallor, Paroxysmal atrial tachycardia, Atrial s... ORPHA:49827
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Peripheral pulmonary ... OMIM:610205
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu... ORPHA:3427
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Bilateral trilobed lung, Tetralogy of Fallot, Omphalocele OMIM:613630
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot... OMIM:108900
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Increased circulating gonadotropin level, Cryptorchidism... OMIM:300869
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Abnormal circulating testosterone concentration OMIM:619044
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... ORPHA:1457
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Fetal distress, Hydrops fetalis, Redu... ORPHA:45452
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Bicornuate uterus, Omphalocele, Abnormal... OMIM:263210
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Ambiguous genitalia, Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism ORPHA:752
Temple-Baraitser Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:611816
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypospadias, Hypergonadotropic hypogonadism, Decreased ... ORPHA:163971
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Aortic root aneurysm, Pulmonic stenosis, Mitral val... OMIM:609008
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert... OMIM:601005
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced... OMIM:620635
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Bicornuate uterus, Omphalocele, Abnormality of the uterus, Umbil... ORPHA:2143
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale, Generalized amyotrophy, Pelvic girdle muscle weakness, Myopathy, Shoulder g... OMIM:615156
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios ORPHA:163596
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal OMIM:613743
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Partial anomalous pulmonary venous return, ... OMIM:619343
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal... ORPHA:860
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:638
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Noonan Syndrome 8
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypert... OMIM:615355
Fetal Minoxidil Syndrome
Ventricular septal defect, Cryptorchidism ORPHA:1918
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:620103
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:619203
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy OMIM:615981
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Patent foramen ovale, Restrictive cardiomyopathy, Camptodactyly, Flexion contracture, Mitral regu... ORPHA:88630
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Hypospadias, Decreased testicular size, Abnormal heart morpholog... OMIM:300978
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Single umbilical artery, Redu... OMIM:613426
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Primary g... ORPHA:261534
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect OMIM:616559
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate... ORPHA:284169
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrops fetalis, Ascites, Premature birth, Cardiomegaly OMIM:269920
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema... OMIM:620247
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus ORPHA:261102
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Bic... OMIM:618845
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Pulmonary sequestration, Aplasia of the left hemidiaphragm, Abno... ORPHA:2847
Long Qt Syndrome 3
Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib... OMIM:603830
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Hypospadias, Recurrent respiratory infections, Patent foramen ovale, Pulm... OMIM:618316
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Abnormal external genitalia ORPHA:3469
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal ... ORPHA:1120
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Patent foramen ovale, Distal amyotrophy, Persistent left superior vena cava, Abn... ORPHA:477817
Seckel Syndrome 9
Congenital diaphragmatic hernia, Atrial septal defect, Clitoral hypertrophy, Pulmonary artery hyp... OMIM:616777
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... OMIM:615009
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase... OMIM:616866
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Neuraminidase Deficiency
Hydrops fetalis, Bone-marrow foam cells, Cardiomyopathy, Ascites, Cherry red spot of the macula, ... OMIM:256550
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se... OMIM:619657
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Acute Peripheral Arterial Occlusion
Myocardial infarction, Stroke, Supraventricular tachycardia, Abnormal capillary physiology, Limb ... ORPHA:90064
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Anomalous origin of left... ORPHA:2326
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Pleural effusion, Tricuspid regurgitation, Pulmonary arterial hypertension, Right atrial enlargem... OMIM:620233
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Polyhydramnios, Nonimmune hydrops fetalis OMIM:613124
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Coarctation of aorta, Secundum atrial septal defect, Skeletal muscle atrophy OMIM:614300
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Pulmonary sequestration, Patent ductus arteriosus, Atrial septal defect, Ventricular... OMIM:618330
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Bardet-Biedl Syndrome 19
External genital hypoplasia, Partial atrioventricular canal defect, Hypogonadism, Patent ductus a... OMIM:615996
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary ar... OMIM:614008
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Nonimmune hydrops fetalis, Severely redu... OMIM:620609
Meckel Syndrome, Type 9
Ambiguous genitalia OMIM:614209
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Stroke, Per... OMIM:614022
Pagod Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Abnormal testis morphology, Omphalocele,... ORPHA:991
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Cryptorchidism, Abnormal heart morphology, Atrial s... ORPHA:401935
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Lymphatic Malformation 13
Single umbilical artery, Patent foramen ovale, Lymphedema, Ascites, Pulmonary arterial hypertensi... OMIM:620244
Premature Ovarian Failure 7
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... OMIM:612964
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert... OMIM:616501
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Patent foramen ovale, Camptodactyly, Mitral valve prolapse, Mitral regurgitation OMIM:615539
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis,... ORPHA:3426
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Mmep Syndrome
Ventricular septal defect, Cryptorchidism ORPHA:3434
Familial Atrial Myxoma
Congestive heart failure, Dilatation of the cerebral artery, Vascular dilatation, Bacterial endoc... ORPHA:615
Chromosome 5Q12 Deletion Syndrome
Patent foramen ovale, Hypotension, Patent ductus arteriosus, Atrial septal defect, Ventricular se... OMIM:615668
Mulibrey Nanism
Congestive heart failure, Hydrops fetalis, Ascites, Pericardial constriction, Myocardial fibrosis... OMIM:253250
Nemaline Myopathy 9
Polyhydramnios, Ventricular septal defect, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:615731
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Down Syndrome
Prenatal double bubble sign, Atrioventricular canal defect, Partial anomalous pulmonary venous re... OMIM:190685
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic valve,... ORPHA:500159
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Pulmonary hypoplasia, Hypergonadotropic hypogona... ORPHA:250999
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy OMIM:264270
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ascites, Pulmonary arterial hypertension, Fetal pericardial effusion, Nonimmune hyd... OMIM:617021
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventri... OMIM:126320
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Umbilical hernia, Polycystic ovaries, Macroorchidism, Recurrent ... ORPHA:284180
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Left atrial enlargement, Aortic valve stenosis OMIM:615377
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Left ventri... OMIM:619167
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Tyshchenko Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:615102
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Breast hypopl... ORPHA:432
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Emanuel Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Torticollis, Inguinal hernia, Truncus arte... OMIM:609029
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Idiopathic/Heritable Pulmonary Arterial Hypertension
Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h... ORPHA:422
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Pulmonic stenosis, Abnormal pulmonary valve morphology ORPHA:137634
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Emanuel Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Inguinal hernia, Infertility, Truncus arte... ORPHA:96170
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Congestive heart failure, Polyhydramnios, Fetal akinesia sequence, Ascites, Portal hypertension, ... ORPHA:367
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus... OMIM:618280
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Hydrops fetalis, Type 1 and type 2 muscle fiber minicore regions, Polyhydramn... OMIM:255320
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Rheumatic Fever
Myocarditis, Abnormal aortic valve morphology, Recurrent pharyngitis, Abnormal heart valve morpho... ORPHA:3099
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Ambiguous genitalia,... OMIM:250790
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot ORPHA:3303
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal l... ORPHA:2470
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy, Cryptorchidism OMIM:616816
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Vent... ORPHA:329224
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Chondrodysplasia, Blomstrand Type
Stillbirth, Polyhydramnios, Hydrops fetalis, Preductal coarctation of the aorta, Premature birth,... OMIM:215045
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Joint contracture of the 5th finger, Patent foramen ovale, Joint contracture of the 4th finger, P... OMIM:618914
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Coarctation of aorta, Abnormal heart morphology, Persistent left superior v... OMIM:618494
Combined Oxidative Phosphorylation Deficiency 9
Patent foramen ovale, Hypertrophic cardiomyopathy OMIM:614582
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Abnormal cardiac septum morphology, Thyroid hypoplasia, Pulmonary hypoplasia, Flexion... OMIM:308050
Transaldolase Deficiency
Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Ventr... OMIM:606003
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hypospadias, Inguinal hernia ORPHA:36
49,Xyyyy Syndrome
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si... ORPHA:99330
Transketolase Deficiency
Patent foramen ovale, Abnormal coronary artery course, Abnormal heart morphology, Patent ductus a... ORPHA:488618
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Patent ductus arteriosus, Atrial fibri... ORPHA:1880
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Premature thelarche, Nodular goiter, Coarctation of aorta, Atrioventricular block, ... ORPHA:371428
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615842
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy, Pallor, Hypertrophic cardiomyopathy OMIM:613561
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Mungan Syndrome
Pulmonic stenosis, Perimembranous ventricular septal defect, Tricuspid regurgitation OMIM:611376
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy OMIM:618839
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Hypospadias, Inguinal hernia, Cryptorchidism, Camptodactyly of f... ORPHA:2311
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy ORPHA:53296
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Combined Oxidative Phosphorylation Deficiency 40
Nonimmune hydrops fetalis, Neonatal death, Premature birth, Hypertrophic cardiomyopathy OMIM:618835
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Aplasia... ORPHA:2063
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect OMIM:618205
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Atrioventricular canal defe... ORPHA:251071
Fetal Gaucher Disease
Stillbirth, Hydrops fetalis, Neonatal death, Flexion contracture, Intracranial hemorrhage, Decrea... ORPHA:85212
Beta-Thalassemia
Skin ulcer, Cholelithiasis, Hypertrophic cardiomyopathy, Pallor, Hypogonadotropic hypogonadism ORPHA:848
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Vacterl/Vater Association
Congenital diaphragmatic hernia, Hypospadias, Hypoplasia of penis, Bifid scrotum, Omphalocele, Am... ORPHA:887
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Congenitally corrected ... OMIM:618300
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Coronary artery atherosclerosis, Hypertension, Abnormal mitral valve morphology, Arterial stenosi... ORPHA:1192
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Recurrent respiratory infections, Urogenital sinus ano... ORPHA:2970
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Polyhydramnios, Ascites, Premature birth, Patent ductus arteriosus ORPHA:2123
Congenital Enterovirus Infection
Myocarditis, Fetal distress, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Hypotension, Pleura... ORPHA:292
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, Abnormality of the musculature of the limbs, High-output congestive hea... ORPHA:137667
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Single umbilical artery, Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Hypertrophic... OMIM:616897
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:2701
Fetal Trimethadione Syndrome
Transposition of the great arteries, Hypospadias, Tetralogy of Fallot, Ambiguous genitalia, Atria... ORPHA:1913
Combined Oxidative Phosphorylation Deficiency 57
Cardiac arrest, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Fetal... OMIM:620167
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Flexion contracture, Patent ductus arteriosus, Tachycardia, Atrial septal defect, V... OMIM:613870
Noonan Syndrome 5
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia OMIM:611553
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries, Macroglossia OMIM:616789
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot OMIM:300887
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Scapular winging, Tricuspid regurgitation, Patent ductus arteriosus, Atrial... OMIM:618870
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615841
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
1Q21.1 Microduplication Syndrome
Cryptorchidism, Tetralogy of Fallot, Hypospadias, Arthrogryposis multiplex congenita ORPHA:250994
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Coarctation of aorta, Atrial septal defect, Ventricular septal d... OMIM:264480
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Cryptorchidism, Arrhythmia, Atrial septal defect,... OMIM:249270
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Abnormality of the endocrine system, Bifid scrotum, Androgen ins... ORPHA:95706
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Hypospadias, Omphalocele, Abnormal pericardium morphology, Pulmo... ORPHA:1335
Noonan Syndrome 10
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, M... OMIM:616564
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Anomalous origin of left pulmonary artery from ascending aorta, Transpo... ORPHA:99050
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Fetal pericardial effusion, Fetal pleural effusion, Neonatal death, N... OMIM:620014
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal aortic valve morphology, Vascular dilatation, Vasculiti... ORPHA:3287
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:614261
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Polyhydramnios, Hypospadias, Pulmonary artery atresia, Cryptorchidism, Pulmo... OMIM:301056
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Hypospadi... ORPHA:363528
Developmental Delay, Language Impairment, And Ocular Abnormalities
Pulmonic stenosis, Facial telangiectasia, Contracture of the proximal interphalangeal joint of th... OMIM:620141
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Hydrops fetalis, Abnormality of the amniotic fluid, Rhabdomyolysis, Arr... OMIM:609015
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Hypospadias, Noncompaction cardiomyopathy, Decre... OMIM:610198
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Ventral her... OMIM:313850
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Hypospadias, Male pseudohermaphroditism, Gonadal dysgenesis, mal... ORPHA:2075
Familial Bicuspid Aortic Valve
Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Aortic valve calcificat... ORPHA:402075
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aorti... OMIM:615415
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Hypospadi... ORPHA:94065
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276556
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g... OMIM:600001
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Pulmonic stenosis, Atrial septal defect OMIM:618282
Achondrogenesis, Type Ib
Stillbirth, Polyhydramnios, Breech presentation, Hydrops fetalis, Edema OMIM:600972
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Dilated cardiomyopathy, Hypergonadotropic hypogonadism ORPHA:2229
Kagami-Ogata Syndrome
Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Flexion contracture, Patent ... OMIM:608149
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Elevated jugular venous pressure, Cardiomyopathy, Testicular atrophy, P... ORPHA:465508
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Patent foramen ovale, Peripheral pulmonary artery stenosis, Abnormal vena cava morph... ORPHA:163956
3P25.3 Microdeletion Syndrome
Knee flexion contracture, Coronary artery atherosclerosis, Pulmonic stenosis, Skeletal muscle atr... ORPHA:435638
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Frasier Syndrome
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... ORPHA:347
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hy... OMIM:616276
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb hypertonia, Patent foramen ovale, Limb joint contracture, Patent ductus arteriosus, Atrial s... OMIM:620327
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias ORPHA:1919
Cardiac Valvular Dysplasia, X-Linked
Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T... OMIM:314400
Megalencephaly
Atrial septal defect, Macroorchidism, Long penis ORPHA:2477
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Sialidosis Type 2
Hydrops fetalis, Ascites, Flexion contracture, Skeletal muscle atrophy, Pedal edema ORPHA:87876
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Pulmonary artery atresia, Left superior vena cava draining directly to... OMIM:613759
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Recurrent respiratory infections, Cryptorchidism, Camptodactyly ORPHA:412035
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Prolonged QT interval, Bifid scrotum, Bicuspid aortic... ORPHA:1772
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Heart murmur, Cardiomegaly, Diffuse alveolar hemorrhage, Pal... ORPHA:99931
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Pulmonic stenosis, Abnormal m... ORPHA:7
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276575
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Seizures-Scoliosis-Macrocephaly Syndrome
Polyhydramnios, Atrial septal defect, Cryptorchidism ORPHA:466926
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotension, Pulmonic stenosis, Aortic... ORPHA:99147
Trisomy 1Q
Congenital diaphragmatic hernia, Ventricular septal defect, Omphalocele, Camptodactyly of finger,... ORPHA:261344
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Renal artery stenosis, Generalized arterial calcification... OMIM:208000
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Abnormality of the male genitalia, Patent ductus arteriosus, Double outlet right ... OMIM:614886
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Hypertension, Prematur... ORPHA:90795
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618950
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276580
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
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Descending ao... OMIM:610168
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Hypospadias, Repeated pneumothoraces, Ventricular septal defect,... OMIM:617602
American Trypanosomiasis
Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Edema, Pallor, Periorbital edema ORPHA:3386
Ane Syndrome
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... ORPHA:157954
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Pulmonary hypoplasia, Ventricular septal defect,... OMIM:612530
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Ascites, Fetal skin edema, Pericardial effusion, Decreased fetal movement, Atria... OMIM:608776
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340