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
Sex reversal, Ambiguous genitalia, Gonadal dysgenesis, Fused labia minora OMIM:616067
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
46,Xy Sex Reversal 8
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, 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
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... OMIM:616425
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
46,Xy Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Chordee, Abnormality of the clitoris, Micropenis, Bifid scrotum, Abnorm... ORPHA:325345
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... OMIM:615542
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... OMIM:249670
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic ... OMIM:185500
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... OMIM:400045
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
46,Xy Sex Reversal 5
Sex reversal OMIM:613080
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropr... ORPHA:98798
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Premature birth, Ventricular septal defect, Oligohydramnio... ORPHA:1909
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive cardiomyopathy, ... OMIM:619433
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Arthrogryposis... OMIM:614262
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Hydrops fetalis, Ascites ORPHA:295
46,Xx Sex Reversal 4
Ambiguous genitalia, Penoscrotal hypospadias, Clitoral hypertrophy, Micropenis OMIM:617480
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... OMIM:612965
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size ORPHA:98797
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Bicornuate uterus, Hypoplastic left atrium, Ventricular septal d... OMIM:615524
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Denys-Drash Syndrome
Ovarian gonadoblastoma, Ambiguous genitalia, female, Ambiguous genitalia, male, Male pseudohermap... OMIM:194080
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... ORPHA:2041
Beemer Lethal Malformation Syndrome
Ambiguous genitalia OMIM:209970
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect OMIM:618496
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Hypoplasia of the uterus, Atrial septal defect, Bicornuate uterus,... OMIM:601186
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
8p23.1 deletion syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricular canal defect, Cryptorchid... DECIPHER:39
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi... OMIM:620067
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Pulmonic stenosis, Abnormal heart valve morphology OMIM:126190
Serkal Syndrome
Sex reversal, Congenital diaphragmatic hernia, Abnormal penis morphology, Hypospadias, Pulmonic s... ORPHA:139466
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Hypoplasia of penis, Ambiguous genitalia, male, Bifid scrotum, Ambiguou... ORPHA:753
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy ORPHA:79159
46,Xy Sex Reversal 1
Sex reversal, Male pseudohermaphroditism, Abnormality of male external genitalia, Gonadal dysgene... OMIM:400044
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:617044
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology ORPHA:2868
Myopathy, Congenital, Nonprogressive
Weakness of facial musculature, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:619967
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Skeletal muscle atrophy, Atrial septal defect, Coarctation of aorta OMIM:614300
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Noonan Syndrome 11
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:618499
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Atrial fib... OMIM:614954
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Hypothalamic gon... OMIM:618841
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal ... OMIM:618815
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypoplasia of the uterus, Mi... OMIM:614841
Genitopalatocardiac Syndrome
Double outlet right ventricle, Gonadal dysgenesis, male, Hypospadias, Ventricular septal defect, ... OMIM:231060
46,Xy Sex Reversal 6
Chordee, Sex reversal, Hypospadias, Clitoral hypertrophy, Dysgerminoma, Gonadoblastoma OMIM:613762
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia, Pulmonary hypoplasia, Congenital diaphragmatic ... ORPHA:2141
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal aortic morphology, Abnormal ... ORPHA:3405
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Patent ductus arteriosus, Hyper... OMIM:615382
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Single umbilical artery, Left ventricular noncomp... OMIM:613426
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Abnormal left ventricular func... OMIM:132900
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:601450
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Edema, Te... ORPHA:101028
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia OMIM:613571
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Atrioventricular block, Abnormal P wave, Primum atrial septal defe... ORPHA:1329
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... OMIM:619149
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Pulmon... ORPHA:75249
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation ORPHA:3449
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventricular septal defect, Abnormality of t... ORPHA:1166
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, ... ORPHA:2414
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... OMIM:601005
Sarcosinemia
Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy ORPHA:3129
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... ORPHA:261529
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... OMIM:253300
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:619189
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:229
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Pulmonary hypo... OMIM:601163
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... ORPHA:228410
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Twin-to-twin transfusion, Lymphedema, Incr... ORPHA:1041
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous ... ORPHA:752
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... ORPHA:99094
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal defect, Ambiguous ... ORPHA:3097
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Cardiomyopathy, Flexion contracture OMIM:608540
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Pseudovaginal Perineoscrotal Hypospadias
Ambiguous genitalia, male, Micropenis, Bifid scrotum, Cryptorchidism, Perineal hypospadias OMIM:264600
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Pulmonary ... OMIM:618316
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618652
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Congenital Tracheomalacia
Atrial septal defect, Cutis laxa, Single ventricle, Recurrent upper respiratory tract infections,... ORPHA:95430
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... OMIM:601927
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Holosystolic mu... ORPHA:99095
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Hypergonad... ORPHA:163976
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Arthrogryposis multiplex congenita, Portal hypertension, Edema, ... OMIM:232500
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Leydig Cell Hypoplasia
Decreased serum testosterone concentration, Cryptorchidism, Abnormal external genitalia, Abnormal... ORPHA:755
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... ORPHA:66628
Cardiomyopathy, Familial Hypertrophic, 4
Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block, Vent... OMIM:115197
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Grange Syndrome
Ventricular septal defect, Aortic regurgitation, Arterial stenosis, Patent ductus arteriosus, Hyp... ORPHA:79094
Heterotaxy, Visceral, 1, X-Linked
Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double outlet right ventr... OMIM:306955
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... OMIM:616501
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:619003
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pat... OMIM:616867
Klippel-Trénaunay Syndrome
Atrial septal defect, Peripheral arteriovenous fistula, Hydrops fetalis, Pulmonary embolism, Pate... ORPHA:90308
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallo... OMIM:610205
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Arteria lu... OMIM:212093
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Meckel Syndrome 14
Tricuspid regurgitation, Single ventricle, Mitral regurgitation, Pneumothorax, Ambiguous genitali... OMIM:619879
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Hydrops fetalis, Arrhythmia, Ab... ORPHA:45452
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Congenital diaphragmatic hernia, Flexion contracture, Emphysema ORPHA:171719
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased circulating cortisol level, Increased circulating renin le... ORPHA:90791
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, O... OMIM:228300
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... ORPHA:179494
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Ambiguous genitalia OMIM:250790
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Increased serum testosterone level, Secundum atrial septal defect, Hypo... OMIM:618901
Pituicytoma
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... ORPHA:251623
Meacham Syndrome
Blind vagina, Congenital alveolar dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Car... OMIM:608978
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Cryptorchidism, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Hb Bart'S Hydrops Fetalis
Hydrops fetalis, Preeclampsia, Polyhydramnios, Pericarditis, Oligohydramnios, Congestive heart fa... ORPHA:163596
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619665
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Pallor, Paroxysmal atrial tachycardia, Ventricular septal defect, C... ORPHA:49827
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Congenital diaphragmatic hernia, Hypospadias, Bilateral lung agenesis, Ovotestis, V... OMIM:611812
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Mcdonough Syndrome
Diastasis recti, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ventricular sept... OMIM:248950
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Abnormal heart morphology, Congenital diaphragmatic hernia, Emphysema OMIM:614100
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Decreased circulating cortisol level, Ovarian cyst, Abnormal response to ACTH stimu... ORPHA:90793
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, C... OMIM:619343
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... ORPHA:860
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:638
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... OMIM:619424
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... OMIM:615355
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Pulmonary hy... ORPHA:99125
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Cryptorchidism, Decreased testicular size, Hypogonadi... OMIM:300869
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... ORPHA:555874
Fetal Minoxidil Syndrome
Ventricular septal defect, Cryptorchidism ORPHA:1918
X-Linked Intellectual Disability, Cilliers Type
Decreased serum testosterone concentration, Cryptorchidism, Hypergonadotropic hypogonadism, Hypos... ORPHA:163971
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic regurgitation, Aortic ro... OMIM:609008
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Bicornuate uterus, Abnormal lung lobation, ... OMIM:263210
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Atrial septal defect, Abnormal external genitalia ORPHA:3469
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta OMIM:616559
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal OMIM:613743
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Micropenis, Hypospadias, Pulmonary hypoplasia, Decreased testicu... OMIM:300978
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Donnai-Barrow Syndrome
Bicornuate uterus, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormality of the... ORPHA:2143
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:615297
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the uterus, Secondary... ORPHA:243
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Patent foramen ovale,... OMIM:616028
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619203
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Hypertension, Pulmonary ar... OMIM:613355
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral regurgitation, Camptodactyly, Mitral valve prolapse, Patent foramen ovale, Facial hypotonia OMIM:615539
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Decreased serum testosterone concentration, A... ORPHA:325124
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Ascites, Premature birth, Cardiomegaly, Congestive heart failure OMIM:269920
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy, Tr... OMIM:615415
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Foot dorsiflexor weak... ORPHA:477817
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... ORPHA:284169
Neuraminidase Deficiency
Facial edema, Cherry red spot of the macula, Hydrops fetalis, Bone-marrow foam cells, Ascites, Sk... OMIM:256550
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Hydrops fetalis, Nonimmune hydrops... OMIM:603830
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Pericardial And Diaphragmatic Defect
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Congenital... ORPHA:2847
Schuurs-Hoeijmakers Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Patent ductus arteriosus, Patent foram... OMIM:615009
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... ORPHA:1120
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Meckel Syndrome, Type 9
Ambiguous genitalia OMIM:614209
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:261102
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... OMIM:616866
Seckel Syndrome 9
Atrial septal defect, Congenital diaphragmatic hernia, Agonadism, Pulmonary artery hypoplasia, Ve... OMIM:616777
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Ambiguous gen... OMIM:201810
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Mmep Syndrome
Ventricular septal defect, Cryptorchidism ORPHA:3434
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, Patent forame... OMIM:615474
Gonadoblastoma
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... ORPHA:206484
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrioventricular block, Complete heart block with narrow QRS complexes,... ORPHA:1677
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Micropenis, Hypogonadotropic hypogonadism, Mitral regurgitation, P... ORPHA:2326
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Emanuel Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Aortic valve stenosis, Pu... OMIM:609029
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... ORPHA:980
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Stroke, Absent ankle pulse, Pallor, Myocardial infarction, Limb mus... ORPHA:90064
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Stroke, Tricuspid regurgitation, Left ventricular hypertrophy, Atr... OMIM:614022
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Pulmonary edema, Left ventricular hypertrophy, Left... ORPHA:57777
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Coarctatio... ORPHA:3426
Mulibrey Nanism
Myocardial fibrosis, Hydrops fetalis, Pericardial constriction, Ascites, Cardiomegaly, Congestive... OMIM:253250
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... ORPHA:3093
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale,... ORPHA:500159
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Macroglossia, Atrioventricular canal defect,... OMIM:190685
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular hypertrophy, Mitral reg... OMIM:619167
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Pagod Syndrome
Congenital diaphragmatic hernia, Hypoplastic left heart, Agonadism, Pulmonary artery hypoplasia, ... ORPHA:991
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... ORPHA:615
Transketolase Deficiency
Atrial septal defect, Abnormal coronary artery course, Ventricular septal defect, Patent ductus a... ORPHA:488618
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Cryptorchidism, Truncu... ORPHA:401935
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Tyshchenko Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:615102
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... ORPHA:251510
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Sinus bradycar... OMIM:126320
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Pulmonary hypoplasia, Congenital diaphragmatic he... ORPHA:250999
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:613457
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Joint contracture of the 4th finger, Pulmonic stenosis, Small thenar eminence, Joint contracture ... OMIM:618914
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy OMIM:264270
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Flexion contracture, Nonimmune hydrops fetalis, Polyhydramnios,... ORPHA:367
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Transaldolase Deficiency
Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:606003
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame... OMIM:615300
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Umbilical hernia, ... ORPHA:284180
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:329224
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... ORPHA:542306
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascular system phys... ORPHA:422
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Mungan Syndrome
Pulmonic stenosis, Tricuspid regurgitation, Perimembranous ventricular septal defect OMIM:611376
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Aortic valve stenosis OMIM:143880
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Emanuel Syndrome
Multiple joint contractures, Infertility, Atrial septal defect, Congenital diaphragmatic hernia, ... ORPHA:96170
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot ORPHA:3303
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Decreased ... ORPHA:432
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Congenital Enterovirus Infection
Hydrops fetalis, Premature birth, Hypotension, Myocarditis, Polyhydramnios, Cardiomyopathy, Pleur... ORPHA:292
Matthew-Wood Syndrome
Annular pancreas, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the pancreas, Abnormalit... ORPHA:2470
Prune Belly Syndrome
Urogenital sinus anomaly, Atrial septal defect, Cryptorchidism, Aplasia of the abdominal wall mus... ORPHA:2970
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale, Macroglossia OMIM:616789
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Rheumatic Fever
Abnormal mitral valve morphology, Pallor, Aplasia/Hypoplasia of the abdominal wall musculature, E... ORPHA:3099
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Flexion contracture, Single ventricle, Erythema, Pulmonary hy... OMIM:308050
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... OMIM:619313
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Hypospadias, Camptodactyly, Ventricular se... OMIM:617602
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:618839
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Left ventricu... ORPHA:99050
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Ascites, Premature birth ORPHA:2123
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Vacterl/Vater Association
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Hypoplasia of penis, Bifid s... ORPHA:887
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Stroke, Systolic heart murmur, Ped... ORPHA:99103
Lethal Congenital Contracture Syndrome 10
Torticollis, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Overriding aorta, Fetal... OMIM:617022
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
Mitochondrial Trifunctional Protein Deficiency
Hydrops fetalis, Arrhythmia, Prenatal maternal abnormality, Rhabdomyolysis, Dilated cardiomyopath... OMIM:609015
Capillary Malformation-Arteriovenous Malformation
Abnormal heart morphology, Arteriovenous malformation, High-output congestive heart failure, Peri... ORPHA:137667
Fetal Gaucher Disease
Flexion contracture, Intracranial hemorrhage, Hydrops fetalis, Neonatal death, Arthrogryposis mul... ORPHA:85212
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Inguinal hernia, Hypospadias,... ORPHA:2311
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Atrial septal defect ORPHA:1388
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:2701
Takayasu Arteritis
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Vasculitis, Cerebral ischemia, Myo... ORPHA:3287
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Neonatal death OMIM:618835
Acrocallosal Syndrome
Hypospadias, Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia ORPHA:36
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Nodular goiter, Prema... ORPHA:371428
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Flexion contracture, Micropenis, Tachycardia, Ventricular septal defect, Pa... OMIM:613870
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Cerebral artery atherosclerosis, Arterial stenosis, Coronary ar... ORPHA:1192
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Inguinal hernia, Abnormal lung lobation, Aplasia... ORPHA:2063
Noonan Syndrome 5
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:611553
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy OMIM:614947
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral re... OMIM:616564
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Dextroc... OMIM:264480
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... OMIM:605376
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618870
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Hypoplastic left heart, Atri... ORPHA:251071
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... ORPHA:210122
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... ORPHA:99104
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Arrhythmia, Ventricular septal defect, Situs inversus totalis, Cryp... OMIM:249270
Fetal Trimethadione Syndrome
Atrial septal defect, Hypospadias, Tetralogy of Fallot, Ventricular septal defect, Ambiguous geni... ORPHA:1913
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Patent foramen ovale OMIM:618027
Cardiac-Urogenital Syndrome
Ventricular septal defect, Ambiguous genitalia, Pulmonary hypoplasia, Unilateral cryptorchidism, ... OMIM:618280
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... OMIM:600001
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Ascites, Pleural... OMIM:616897
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Non-Syndromic Posterior Hypospadias
Abnormality of the endocrine system, Congenital diaphragmatic hernia, Bifid scrotum, Micropenis, ... ORPHA:95706
Beta-Thalassemia
Cholelithiasis, Pallor, Hypogonadotropic hypogonadism, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased circulating androgen concentration, Hypergonadotropic hypogonadism, Primary gonadal ins... ORPHA:90796
Achondrogenesis, Type Ib
Hydrops fetalis, Polyhydramnios, Edema, Stillbirth, Breech presentation OMIM:600972
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Gonadal dysgenesis, male, Congenital diaphragmatic hernia, Ma... ORPHA:2075
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Ar... ORPHA:465508
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Flexion contracture, Pulmonic stenosis, Ventricular septal... OMIM:608149
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
3P25.3 Microdeletion Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Kne... ORPHA:435638
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Joint contracture of the hand, Congenital diaphragmatic hernia, Decreased r... ORPHA:363528
Premature Ovarian Failure 13
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Pentalogy Of Cantrell
Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morphology, Hypospadi... ORPHA:1335
Lymphatic Malformation 12
Fetal pericardial effusion, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Lymphedema... OMIM:620014
Megalencephaly
Atrial septal defect, Macroorchidism, Long penis ORPHA:2477
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... ORPHA:7
Gm1-Gangliosidosis, Type I
Cherry red spot of the macula, Hydrops fetalis, Dilated cardiomyopathy, Abnormal heart valve morp... OMIM:230500
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Stillbirth, Premature birth OMIM:215045
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... ORPHA:347
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Diastasis recti, Pulmonary valve atresi... OMIM:265380
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Oligohydramnios OMIM:617021
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Familial Bicuspid Aortic Valve
Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... ORPHA:402075
Noonan Syndrome 2
Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctat... OMIM:605275
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... ORPHA:244
X-Linked Intellectual Disability, Nascimento Type
Double outlet right ventricle, Mitral stenosis, Peripheral pulmonary artery stenosis, Micropenis,... ORPHA:163956
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Arthrogryposis multiplex congenita, Tetralogy of Fallot ORPHA:250994
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Phenobarbital Embryopathy
Hypospadias, Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Dilated cardiomyopathy, Polycystic ovaries ORPHA:2229
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Transposition of the great arteries, ... OMIM:617877
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276556
Seizures-Scoliosis-Macrocephaly Syndrome
Polyhydramnios, Cryptorchidism, Atrial septal defect ORPHA:466926
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... ORPHA:99147
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Abnormal left ventricular function, Micropenis, Pulmonic stenosis,... OMIM:301056
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Hypospadias, Ectopia cordis, Ventral hernia, Pulmonary hypoplasi... OMIM:313850
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Premature birth, Cardiomegaly OMIM:618838
Sialidosis Type 2
Flexion contracture, Hydrops fetalis, Pedal edema, Ascites, Skeletal muscle atrophy ORPHA:87876
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Recurrent respiratory infections, Camptodactyly ORPHA:412035
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:618950
Arterial Calcification, Generalized, Of Infancy, 1
Carotid artery calcification, Congestive heart failure, Generalized arterial calcification, Myoca... OMIM:208000
Trisomy 1Q
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect, Ambiguous ge... ORPHA:261344
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Tachycardia, Arrhythmia, Exercise-induced rhabdomyolysis, Ventricular septa... ORPHA:26793
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonic stenosis, Skeletal muscle atrophy, Aortic valve stenosis, Flexion contracture ORPHA:75496
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Hypospadi... ORPHA:94065
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, P... ORPHA:563
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Noonan Syndrome 3
Tricuspid valve prolapse, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mit... OMIM:609942
Hamamy Syndrome
Prolonged QRS complex, Complete atrioventricular canal defect, Atrial septal defect, Mitral regur... OMIM:611174
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276575
Estrogen Resistance
Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea OMIM:615363
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Patent foramen ov... OMIM:208085
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... OMIM:314400
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Hypoplastic left heart, Ventricular septal defect, Ambiguous genitalia, Cryp... ORPHA:2772
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Noonan Syndrome With Multiple Lentigines
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Bundle branch block, Atrio... ORPHA:500
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Arthrogryposis-like hand anomaly, Camptodactyly, Ventricular septal defect, Patent ... ORPHA:369891
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Supernumerary nipple, Ventricular septal defect, Pulmonary hypop... OMIM:612530
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Double outlet right ventricle, Atrial septal defect, Abnormality of the male geni... OMIM:614886
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276580
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect OMIM:615502
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Decreased circulating cortisol level, Premature thelarche, Long peni... ORPHA:90795
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... OMIM:612946
Noonan Syndrome 7
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:613706
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Chromosome 6Pter-P24 Deletion Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, P... OMIM:612582
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Abnormality of the pulmonary artery ORPHA:1131
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Cardiofaciocutaneous Syndrome 4
Pulmonic stenosis, Ventricular septal hypertrophy, Abnormal aortic valve morphology OMIM:615280
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Anomalous pulmonary venous return, Atrial arrhythmia, Stroke, Systol... ORPHA:99105
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Tricuspid regurgitation, Dysplastic pulmonary valve, Mitral valve prolapse,... OMIM:612863
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... OMIM:613834
Lymphatic Malformation 6
Facial edema, Atrial septal defect, Genital edema, Chylothorax, Nonimmune hydrops fetalis, Polyhy... OMIM:616843
Diamond-Blackfan Anemia 6
Atrial septal defect, Mitral regurgitation, Tetralogy of Fallot, Ventricular septal defect, Mitra... OMIM:612561
American Trypanosomiasis
Pallor, Arrhythmia, Myocarditis, Edema, Periorbital edema, Cardiomyopathy, Congestive heart failure ORPHA:3386
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Contracture of the proximal interphalangeal joint of the 4th toe, Atrial s... ORPHA:457279
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the lungs, Congenital dia... ORPHA:1834
Craniofaciofrontodigital Syndrome
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... ORPHA:363705
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration ORPHA:101006
Atrioventricular Septal Defect 3