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
Ambiguous genitalia, Fused labia minora, Gonadal dysgenesis, Sex reversal OMIM:616067
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Idiopathic Isolated Micropenis
Hypospadias, Ambiguous genitalia, Micropenis ORPHA:95707
46,Xy Sex Reversal 8
Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism OMIM:614279
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... ORPHA:1209
46,Xy Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormality of the clitoris, Ambiguous genitalia, Gonadoblastoma, Bifid... ORPHA:325345
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... ORPHA:2138
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... OMIM:249670
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... OMIM:278850
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Pulmonary artery ... OMIM:185500
Aortic Valve Disease 2
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... OMIM:614823
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... OMIM:615373
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Ovotestis, Clito... OMIM:400045
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Left ventricular outflow tract obstruction, Right aortic arch, Hyp... OMIM:613854
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
46,Xy Sex Reversal 5
Sex reversal OMIM:613080
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... ORPHA:98798
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... OMIM:615396
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Scimitar Syndrome
Pneumothorax, Truncus arteriosus, Hypoplasia of the diaphragm, Pulmonary hypoplasia, Heart block,... ORPHA:185
Indomethacin Embryofetopathy
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Premature birt... ORPHA:1909
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... OMIM:616425
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis, Increased nuchal translucency ORPHA:295
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... OMIM:612965
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Azoospermia ORPHA:98797
Microphthalmia, Syndromic 12
Ventricular septal defect, Bicornuate uterus, Hypoplastic left atrium, Pulmonary hypoplasia, Cong... OMIM:615524
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Testicular Anomalies With Or Without Congenital Heart Disease
Ambiguous genitalia, Microphallus, Cryptorchidism, Corpus cavernosum hypoplasia, Perineal hypospa... OMIM:615542
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... OMIM:616201
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... OMIM:613751
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Atrial septal defec... OMIM:614262
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... OMIM:618780
Aortic Valve Disease 3
Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Pulmonary insufficiency, Hydrops fetalis, Ascites, Pulmonic stenosis,... OMIM:619433
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
46,Xx Sex Reversal 4
Ambiguous genitalia, Fused labia majora, Penoscrotal hypospadias, Gonadal dysgenesis, Ovotestis, ... OMIM:617480
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Beemer Lethal Malformation Syndrome
Ambiguous genitalia OMIM:209970
Coronary Arterial Fistula
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... ORPHA:2041
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:618719
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Aortic Arch Interruption
Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary wi... ORPHA:2299
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Ventricular septal defect, Truncus arteriosus, Bicornuate uterus, Diaph... OMIM:601186
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Abnormal lung lobation, Aortopu... OMIM:208530
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:614432
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i... OMIM:620067
Testicular Regression Syndrome
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... ORPHA:983
Serkal Syndrome
Ventricular septal defect, Sex reversal, Pulmonary hypoplasia, Oligohydramnios, Congenital diaphr... ORPHA:139466
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Abnormal internal genitalia, Aplasia of the uterus, Elevated circulatin... OMIM:273250
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Ambiguous genitalia, Perineal hypospadias, Bifid scrotum, Ambiguous gen... ORPHA:753
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:616030
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... ORPHA:216694
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Male... OMIM:400044
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating lutei... OMIM:618086
46,Xy Sex Reversal 6
Gonadoblastoma, Sex reversal, Hypospadias, Chordee, Gonadal dysgenesis, Clitoral hypertrophy, Dys... OMIM:613762
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Congenital Myopathy 11
Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect, Weakness of facial musculature OMIM:619967
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology ORPHA:2868
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... OMIM:610338
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:617044
Partial Atrioventricular Septal Defect
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... ORPHA:1330
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... OMIM:614980
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... OMIM:618841
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... OMIM:614954
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertroph... OMIM:618815
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased testicular size, Decreased circulating gonadotropin concentr... OMIM:614841
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... OMIM:619702
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect OMIM:618499
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... ORPHA:1686
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Gonadal dysgenesis, male, Hypospadias, ... OMIM:231060
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia, Abnormal morphology of female... ORPHA:2141
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Ventricular septal defect, Single um... ORPHA:3405
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Nephronophthisis 16
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve steno... OMIM:615382
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Patent foramen ovale, Bradycardia, Sick sinus syndrome OMIM:617182
Delayed Puberty, Self-Limited
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... OMIM:619613
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Supravalvular aorti... ORPHA:1461
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia OMIM:613571
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Transaldolase Deficiency
Hydrops fetalis, Telangiectasia, Atrial septal defect, Coarctation of aorta, Biventricular hypert... ORPHA:101028
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophi... ORPHA:75249
Denys-Drash Syndrome
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, fema... OMIM:194080
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Cardiac Valvular Dysplasia 1
Arteria lusoria, Patent foramen ovale, Left aortic arch with cervical origin of the right subclav... OMIM:212093
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Increased placental thickness, Nonimmune hydrop... ORPHA:1041
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... OMIM:612422
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormality of the pulmonary artery, Congenital diaphragmatic hernia, ... ORPHA:1166
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... OMIM:615248
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... ORPHA:2414
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormality of the pulmonary artery,... ORPHA:1354
Familial Aortic Dissection
Aortic root aneurysm, Patent ductus arteriosus, Coronary artery atherosclerosis, Descending aorti... ORPHA:229
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Meacham Syndrome
Ambiguous genitalia, Hydrometrocolpos, Abnormal vagina morphology, Conotruncal defect, Ventricula... ORPHA:3097
Li-Campeau Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:619189
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Aorto-Ventricular Tunnel
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Heart murmur, Congesti... ORPHA:3400
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Polyhydramnios, Right atrial isomeris... OMIM:306955
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... OMIM:616501
Polyvalvular Heart Disease Syndrome
Mitral valve prolapse, Abnormal heart valve morphology, Arrhythmia, Aortic valve stenosis, Pulmon... ORPHA:228410
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614897
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Joint contract... OMIM:608540
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism, Hypogonadotropic hypogonadism, A... ORPHA:752
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... OMIM:601005
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Testicular atrophy, Omphalocele, Abnormali... OMIM:601163
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... OMIM:253300
Lessel-Kreienkamp Syndrome
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Pulm... OMIM:619149
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Patent foramen ovale, Patent ductus arteriosus, Right ventric... ORPHA:99094
Pseudovaginal Perineoscrotal Hypospadias
Perineal hypospadias, Bifid scrotum, Ambiguous genitalia, male, Cryptorchidism, Micropenis OMIM:264600
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, M... ORPHA:163976
Congenital Gerbode Defect
Pedal edema, Systolic heart murmur, Palpitations, Peripheral edema, Elevated right atrial pressur... ORPHA:99095
Congenital Tracheomalacia
Patent ductus arteriosus, Pulmonary arterial hypertension, Pneumothorax, Ventricular septal defec... ORPHA:95430
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Congestive heart failure, Nonimmune hydrops fetalis OMIM:236750
Leydig Cell Hypoplasia
Primary gonadal insufficiency, Female hypogonadism, Ambiguous genitalia, Testicular gonadoblastom... ORPHA:755
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... ORPHA:2248
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... ORPHA:439
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ... OMIM:601927
Glycogen Storage Disease Iv
Polyhydramnios, Hydrops fetalis, Decreased fetal movement, Edema, Skeletal muscle atrophy, Portal... OMIM:232500
Aorta Coarctation
Pulmonary arterial hypertension, Aortic valve atresia, Patent ductus arteriosus, Perimembranous v... ORPHA:1457
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... ORPHA:66628
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... ORPHA:79094
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618652
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal pleural effusion, Fetal ascites, Fetal pericardial effusion OMIM:619462
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:619003
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale, Increased variability in muscle fiber diameter, F... OMIM:616867
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguo... ORPHA:90791
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615279
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... ORPHA:168563
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:301077
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... ORPHA:45452
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Congestive heart failure, Atrial s... ORPHA:90308
Meckel Syndrome 14
Ambiguous genitalia, Pneumothorax, Pulmonary hypoplasia, Oligohydramnios, Aplasia of the uterus, ... OMIM:619879
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Pulmonary artery atresia, Secundum atrial... OMIM:108900
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Abnormal heart valve morphology, Emphysema ORPHA:171719
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Alagille Syndrome 2
Hypertension, Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pu... OMIM:610205
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... ORPHA:179494
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level, Ventricular se... OMIM:618901
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Atrial Septal Defect 9
Pulmonary arterial hypertension, Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Arterial Calcification, Generalized, Of Infancy, 2
Arterial calcification, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogeni... OMIM:614473
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Patent duct... OMIM:270100
Meacham Syndrome
Pulmonary hypoplasia, Blind vagina, Septate vagina, Aplasia of the left hemidiaphragm, Ventricula... OMIM:608978
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Congestive heart failure, Oligohydramnios, Pericarditis, Preecla... ORPHA:163596
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Sex reversal, Adrenal gland agenesis, Bilateral lung agenesis, Pulmona... OMIM:611812
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... OMIM:179613
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, External genital hypoplasia, A... OMIM:615996
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... ORPHA:49827
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation, Atrial septal defect OMIM:613087
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Truncus Arteriosus
Truncus arteriosus, Tachycardia, Pulmonary artery stenosis, Ventricular septal defect, Interrupte... ORPHA:3384
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Abnormal circulating follicle-stimulating hormone concentratio... OMIM:616950
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Abnormal heart morphology, Emphysema OMIM:614100
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... OMIM:220210
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... OMIM:619424
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Increased ci... OMIM:300869
Fetal Encasement Syndrome
Bilateral trilobed lung, Congenital diaphragmatic hernia, Omphalocele, Tetralogy of Fallot OMIM:613630
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Temple-Baraitser Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:611816
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Pulmonary artery ... ORPHA:99125
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Mitral valve prolapse, Aortic regurgitation, Situs inversus totalis, Persis... OMIM:609008
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... ORPHA:860
Noonan Syndrome 8
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Atrial septal ... OMIM:615355
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Decreased testicular size, Male hypogonadism, Increased... ORPHA:163971
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertrophic car... OMIM:620135
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale, Generalized amyotrophy, Pelvic girdle muscle weakness, Myopathy, Shoulder g... OMIM:615156
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... OMIM:619343
Fetal Minoxidil Syndrome
Ventricular septal defect, Cryptorchidism ORPHA:1918
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Patent foramen ovale, Restrictive cardiomyopathy, Flexion contracture, Camptodactyly, Mitral regu... ORPHA:88630
Donnai-Barrow Syndrome
Ventricular septal defect, Bicornuate uterus, Abnormality of the uterus, Congenital diaphragmatic... ORPHA:2143
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Bicornuate uterus, Abnormal lung lobation, Pulmonary hypoplasia, Congenital ... OMIM:263210
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal OMIM:613743
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta OMIM:616559
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... ORPHA:243
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... ORPHA:555874
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:615297
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Abnormal circulating testosterone concent... OMIM:108420
Immunodeficiency 110 With Lymphoproliferation
Atrial septal defect OMIM:614868
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... ORPHA:3304
Spermatogenic Failure 77
Azoospermia, Oligospermia, Abnormal circulating testosterone concentration, Abnormal circulating ... OMIM:620103
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:614839
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspid aortic valve, Hypertension, A... OMIM:613355
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Xk Aprosencephaly Syndrome
Polyhydramnios, Abnormal external genitalia, Ventricular septal defect, Atrial septal defect ORPHA:3469
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Congestive heart failure, Cardiomegaly, Ascites, Premature birth OMIM:269920
49,Xxxyy Syndrome
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... ORPHA:261534
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Hydrops fetalis, Syncope, Nonimmune hydrops fetalis, Ve... OMIM:603830
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... OMIM:618845
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Tonne-Kalscheuer Syndrome
Decreased testicular size, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypospadias, Ab... OMIM:300978
Neuraminidase Deficiency
Hydrops fetalis, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Ascites, Facial e... OMIM:256550
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Patent foramen ovale, Right ventricular hypertrophy, Right atria... OMIM:616028
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:618316
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... ORPHA:284169
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partia... ORPHA:2847
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:261102
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Death in infancy, Aplasia/Hypoplasia of ... ORPHA:1120
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619834
Gonadoblastoma
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno... ORPHA:206484
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, Patent foramen ovale, Increased variability in muscle fiber diameter, F... OMIM:616866
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Decreased testicular size, ... ORPHA:2326
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Abnormal mitochondria in muscle tissue, Dilated cardiomyopathy, Left ventric... OMIM:252011
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Pallor, Myocardial infarction, Abnormality of venous physiology, St... ORPHA:90064
Schuurs-Hoeijmakers Syndrome
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Abnormal cardiac septum mo... OMIM:615009
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... OMIM:612310
Seckel Syndrome 9
Ambiguous genitalia, Ventricular septal defect, Agonadism, Atrial septal defect, Pulmonary artery... OMIM:616777
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia OMIM:619699
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... OMIM:619167
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Mulibrey Nanism
Hydrops fetalis, Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Cardiom... OMIM:253250
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Coarc... ORPHA:3426
Mmep Syndrome
Ventricular septal defect, Cryptorchidism ORPHA:3434
Congenital Aortic Valve Stenosis
Endocarditis, Aortic valve atresia, Sudden cardiac death, Abnormal T-wave, Increased QRS voltage,... ORPHA:3093
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Mitral valve prolapse, Camptodactyly, Mitral regurgitation, Facial hypotonia OMIM:615539
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... OMIM:614022
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Pulmonary sequestration, Ventricular septal defect, Atrial septal defec... OMIM:618330
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Pulmonary edema, Thir... ORPHA:57777
Absence Of The Pulmonary Artery
Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Abnormal inferior ... ORPHA:980
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... OMIM:615184
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Down Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Double outlet right ventricle, Patent fo... OMIM:190685
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... OMIM:612964
Meckel Syndrome, Type 9
Ambiguous genitalia OMIM:614209
Pagod Syndrome
Ambiguous genitalia, Abnormal testis morphology, Death in infancy, Abnormality of the pulmonary a... ORPHA:991
Familial Atrial Myxoma
Pedal edema, Bacterial endocarditis, Vascular dilatation, Pulmonic valve myxoma, Heart murmur, Co... ORPHA:615
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Nemaline Myopathy 9
Polyhydramnios, Nemaline bodies, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:615731
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis, Varicose veins... OMIM:126320
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... OMIM:616749
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:500159
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Absence of pubertal development, Hypergonadotropic hypogonadism, Primar... OMIM:618078
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Atrial septal defect, Abnormal heart morphology, C... ORPHA:401935
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect OMIM:614261
Tyshchenko Syndrome
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:615102
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hypergonadotropic hypogonadism, Pulmonary hypoplasia, Cryptorchi... ORPHA:250999
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Fetal akinesia sequence, Flexion contracture, Abnormal muscle glycogen content, D... ORPHA:367
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy OMIM:264270
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Fetal ascites, Stillbirth, Preductal coarctation of the aorta, P... OMIM:215045
Congenital Myopathy 1B, Autosomal Recessive
Increased variability in muscle fiber diameter, Polyhydramnios, Hydrops fetalis, Centrally nuclea... OMIM:255320
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Peripheral edema, Abnormal P wa... ORPHA:99106
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Imperforate tricuspid valve, Patent ductus arteriosus, Right bundle branch ... ORPHA:1880
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Joint contracture of the 5th finger, Joint contracture of the 4th finger, P... OMIM:618914
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Congenital diaphragmatic hernia, Polycystic ovaries, Recurrent upper respiratory ... ORPHA:284180
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Pedal edema, Heart murmur, Elevated jugular venous pressure, Syn... ORPHA:422
Tetralogy Of Fallot
Tetralogy of Fallot, Cryptorchidism ORPHA:3303
Transaldolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Telangiectasia, Ventricular septal defect, Atrial... OMIM:606003
Mungan Syndrome
Tricuspid regurgitation, Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:611376
Rheumatic Fever
Endocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal pleura morphology, A... ORPHA:3099
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... OMIM:619313
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect, Cryptorchidism OMIM:616816
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular size, Absence of secon... ORPHA:432
Familial Cutaneous Collagenoma
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy ORPHA:53296
Emanuel Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Torti... OMIM:609029
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Ambiguous genitalia, Bifid scrotum, Hypospadias, Male pseudohermaphroditism,... OMIM:250790
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Atrial septal defect ORPHA:89844
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Neonatal death, Premature birth, Cardiomyopathy OMIM:618839
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Pulmonary hypoplasia, Abnormality of the uterus, Congenital d... ORPHA:2470
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:329224
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Left ventricula... OMIM:615474
Congenital Enterovirus Infection
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Fetal distress, Decreased fet... ORPHA:292
Even-Plus Syndrome
Patent foramen ovale, Atrial septal defect OMIM:616854
Premature Ovarian Failure 10
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... OMIM:612885
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Flexion contracture, Abnormal cardiac septum morphology, Thyroid hypoplasia, Pulmonary hypoplasia... OMIM:308050
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abno... OMIM:618494
Prune Belly Syndrome
Urogenital sinus anomaly, Patent ductus arteriosus, Ventricular septal defect, Recurrent respirat... ORPHA:2970
Emanuel Syndrome
Patent ductus arteriosus, Multiple joint contractures, Hypogonadism, Truncus arteriosus, Ventricu... ORPHA:96170
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Premature thelarche, Ventricular septal defect, Bicuspid aortic va... ORPHA:371428
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Neonatal death, Premature birth OMIM:618835
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Acrocallosal Syndrome
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:36
Mitochondrial Trifunctional Protein Deficiency 1
Hydrops fetalis, Rhabdomyolysis, Prenatal maternal abnormality, Dilated cardiomyopathy, Congestiv... OMIM:609015
Transketolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Abnormal coronary arte... ORPHA:488618
Vacterl/Vater Association
Ambiguous genitalia, Abnormal cardiac septum morphology, Bifid scrotum, Aplasia/Hypoplasia of the... ORPHA:887
Fetal Gaucher Disease
Fetal akinesia sequence, Flexion contracture, Hydrops fetalis, Decreased fetal movement, Intracra... ORPHA:85212
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy, Pallor OMIM:613561
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... ORPHA:99330
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Abnormal circulati... OMIM:615842
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ascites, Premature birth ORPHA:2123
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries, Macroglossia OMIM:616789
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Hypertension, Arterial stenosis, Coronary artery atherosclerosi... ORPHA:1192
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Anomalous origin of left pulmonary artery from ascending aorta, ... ORPHA:99050
Capillary Malformation-Arteriovenous Malformation
Telangiectasia, Cerebral ischemia, Lymphedema, Arteriovenous malformation, Cerebral arteriovenous... ORPHA:137667
Atrial Septal Defect, Ostium Secundum Type
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular functi... ORPHA:99103
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Inguinal hernia, Anomalous pulmonary venous return, Congenital diaphragm... ORPHA:2311
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... ORPHA:542306
Takayasu Arteritis
Pulmonary arterial hypertension, Ascending tubular aorta aneurysm, Vascular dilatation, Cerebral ... ORPHA:3287
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Inguinal hernia, Congenital diaphragmati... ORPHA:2063
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... OMIM:224700
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... OMIM:617690
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Arrhythmia OMIM:611553
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Dextrocardia, Complete atr... OMIM:264480
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect OMIM:618205
Developmental Delay, Language Impairment, And Ocular Abnormalities
Contracture of the proximal interphalangeal joint of the 5th finger, Facial telangiectasia, Pulmo... OMIM:620141
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal cardiac septum morphology, Hypo... ORPHA:251071
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve stenosis, P... OMIM:615415
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Atrioventricular canal defect, Pulmonary valve atresia, Patent d... ORPHA:210122
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Flexion contracture, Hydrops fetalis, Ventricular septal defect, Pleural effusion... OMIM:616897
Catel-Manzke Syndrome
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect ORPHA:1388
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Right ventricular dilatation, Unroofed co... ORPHA:99104
Beta-Thalassemia
Skin ulcer, Pallor, Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Cholelithiasis ORPHA:848
Noonan Syndrome 10
Patent ductus arteriosus, Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left... OMIM:616564
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Pulmonary hypoplasia, Unilater... OMIM:618280
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Arrhythmia, Situs inversus totalis, Cryptorchidi... OMIM:249270
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j... OMIM:613870
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618870
Fetal Trimethadione Syndrome
Ambiguous genitalia, Ventricular septal defect, Atrial septal defect, Hypospadias, Tetralogy of F... ORPHA:1913
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Androgen insufficiency, Urethral diverticulum, Ventral shortening of foreskin, Con... ORPHA:95706
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Diaphragmatic eventration, Decreased testicular size, Noncompaction cardiom... OMIM:610198
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Hypoplasia of the uterus, Primary gonadal insufficienc... ORPHA:90796
1Q21.1 Microduplication Syndrome
Hypospadias, Tetralogy of Fallot, Arthrogryposis multiplex congenita, Cryptorchidism ORPHA:250994
Primary Ciliary Dyskinesia
Double outlet right ventricle, Respiratory tract infection, Bronchiectasis, Peribronchovascular i... ORPHA:244
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Elevated jugular venous pressure, Congestive heart failure, Testicular atrophy, D... ORPHA:465508
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Fetal pleural effusion, Nonimmune hydrops fetalis, Fetal ascites, Fet... OMIM:620014
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... OMIM:600001
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Flexion contracture, Diastasis recti, ... OMIM:608149
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Hy... ORPHA:2075
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pulmonic stenosis, Atrial septal defect OMIM:618282
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Breech presentation, Edema, Stillbirth OMIM:600972
Intellectual Disability-Strabismus Syndrome
Patent ductus arteriosus, Congenital finger flexion contractures, Hypothyroidism, Hypohidrosis, D... ORPHA:363528
Pentalogy Of Cantrell
Absent gallbladder, Abnormal pericardium morphology, Ventricular septal defect, Pulmonary hypopla... ORPHA:1335
15Q24 Microdeletion Syndrome
Hernia, Decreased response to growth hormone stimulation test, Microphallus, Congenital diaphragm... ORPHA:94065
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis, Arth... OMIM:301056
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Oligohydramnios, Arrhythmia OMIM:617021
Megalencephaly
Macroorchidism, Atrial septal defect, Long penis ORPHA:2477
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Heart murmur, Bicuspid aortic valve, Abnormal left ventricular outflow trac... ORPHA:402075
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ventral hernia, Ectopia cordis, Pulmonary hypoplasia, Congenital diaphr... OMIM:313850
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia ORPHA:276556
Frasier Syndrome
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... ORPHA:347
3C Syndrome
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Atria... ORPHA:7
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Cardiomegaly, Nonimmune hydrops fetalis OMIM:618838
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Atrioventricular canal defect, Congenitally corrected transposition of ... OMIM:618300
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect OMIM:300887
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... OMIM:616276
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Potocki-Lupski Syndrome
Patent foramen ovale, Atrial septal defect OMIM:610883
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Knee flexion contracture, Ventricular septal defect, Atrial septal defe... ORPHA:435638
Phenobarbital Embryopathy
Hypospadias, Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Acquired Von Willebrand Syndrome
Hypotension, Intracranial hemorrhage, Epistaxis, Aortic regurgitation, Melena, Mitral regurgitati... ORPHA:99147
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, A... OMIM:230500
Noonan Syndrome 2
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, Ventric... OMIM:605275
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Pulmonary artery dilatation, Pulmonary artery stenosis, Misalignme... OMIM:265380
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Arterial Calcification, Generalized, Of Infancy, 1
Carotid artery calcification, Abdominal aortic calcification, Hypertension, Congestive heart fail... OMIM:208000
Suleiman-El-Hattab Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect OMIM:618950
Sialidosis Type 2
Pedal edema, Flexion contracture, Hydrops fetalis, Skeletal muscle atrophy, Ascites ORPHA:87876
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
X-Linked Intellectual Disability, Nascimento Type
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Pulmonary arterial... ORPHA:163956
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... OMIM:605376
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia ORPHA:276575
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Trisomy 1Q
Camptodactyly of finger, Patent ductus arteriosus, Ambiguous genitalia, Ventricular septal defect... ORPHA:261344
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Paroxysmal supraventricular tachycardia, Arrhythmia, Tr... OMIM:617877
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Recurrent respiratory infections, Camptodactyly, Cryptorchidism ORPHA:412035
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Abnormality of the male genitalia, Atria... OMIM:614886
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... OMIM:314400
Seizures-Scoliosis-Macrocephaly Syndrome
Polyhydramnios, Atrial septal defect, Cryptorchidism ORPHA:466926
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo... ORPHA:26793
Hamamy Syndrome
Prolonged QRS complex, Mitral regurgitation, Complete atrioventricular canal defect, Atrial septa... OMIM:611174
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Syncope, Pallor, Hypertrophic cardiomyopathy, Palpitations, Tachycardia ORPHA:276580
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery, Pulmonic stenosis, Abnormal mitral valve morphology ORPHA:1131
Peripartum Cardiomyopathy
Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Peripheral edema, Toxemia of pre... ORPHA:563
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Flexion contracture, Skeletal muscle atrophy, Pulmonic stenosis ORPHA:75496
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... ORPHA:90795
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Atrial septal defect, Pleural effusion, Ed... OMIM:616843
American Trypanosomiasis
Congestive heart failure, Pallor, Edema, Arrhythmia, Periorbital edema, Myocarditis, Cardiomyopathy ORPHA:3386
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Heart murmur, Diffuse alveolar hemorrhage, Pallor, Reticular p... ORPHA:99931
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Fetal akinesia sequence, Hydrops fetalis, Ventric... OMIM:617022
Noonan Syndrome With Multiple Lentigines
Atrioventricular canal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dil... ORPHA:500
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Pulmonary hypoplasia, Congenital diaphragmatic h... OMIM:612530
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart, Cryp... ORPHA:2772
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Ventricular septal defect, Camptodactyly, Macroglossia, Abnormal heart morp... ORPHA:369891
Noonan Syndrome 3
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Mitral valve prolapse,... OMIM:609942
Ane Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... ORPHA:157954