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Gene: Zfpm2 MGI:1334444

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
zinc finger protein, multitype 2
Synonyms:
FOG2,  B330005D23Rik,  FOG-2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Zfpm2 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 associated to Zfpm2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
46,Xy Sex Reversal 9
Sex reversal, Ambiguous genitalia, Gonadal dysgenesis, Fused labia minora OMIM:616067
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2140
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... ORPHA:251510
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187

The table below shows human diseases predicted to be associated to Zfpm2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
46,Xy Sex Reversal 9
Sex reversal, Ambiguous genitalia, Gonadal dysgenesis, Fused labia minora OMIM:616067
Myxoma, Intracardiac
Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma OMIM:255960
46,Xy Sex Reversal 8
Sex reversal, Ambiguous genitalia, Male pseudohermaphroditism, Cryptorchidism OMIM:614279
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... OMIM:616425
46,Xy Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Chordee, Abnormality of the clitoris, Micropenis, Bifid scrotum, Abnorm... ORPHA:325345
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... OMIM:615542
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... OMIM:400045
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropr... ORPHA:98798
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size ORPHA:98797
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
46,Xx Sex Reversal 4
Ambiguous genitalia, Penoscrotal hypospadias, Clitoral hypertrophy, Micropenis OMIM:617480
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Beemer Lethal Malformation Syndrome
Ambiguous genitalia OMIM:209970
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
46,Xy Sex Reversal 5
Sex reversal OMIM:613080
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... OMIM:612965
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
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
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Microphthalmia, Syndromic 12
Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypoplastic lef... OMIM:615524
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... DECIPHER:39
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Coarctation of aorta, Biven... ORPHA:101028
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Premature birth, Ventricular septal defect, Oligohydramnio... ORPHA:1909
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Hepatomegaly, Atrial septal defect, Hydrops fetalis, Pulmonary ... ORPHA:90308
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... OMIM:601927
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... OMIM:249670
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
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
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia, Truncus arteriosus OMIM:274210
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia OMIM:613571
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... OMIM:253300
46,Xy Sex Reversal 1
Sex reversal, Male pseudohermaphroditism, Abnormality of male external genitalia, Gonadal dysgene... OMIM:400044
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Atrioventricular block, Abnormal P wave, Primum atrial septal defe... ORPHA:1329
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... ORPHA:99095
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive ca... OMIM:619433
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Congenital... ORPHA:2847
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... OMIM:601005
Cardiomyopathy, Dilated, 2E
Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Edema, Congestive hea... OMIM:605676
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... ORPHA:2041
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... ORPHA:2414
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... OMIM:619048
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
External genital hypoplasia, Hypospadias, Ovotestis, Ambiguous genitalia, Clitoral hypertrophy, D... OMIM:610644
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Cardiomyopathy, Familial Hypertrophic, 4
Stroke, Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Neonatal death, Pulmonary hypoplasia, Pulmonary arterial hypertension,... OMIM:619003
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... OMIM:314400
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, C... OMIM:619343
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
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
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pul... OMIM:616867
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
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
46,Xy Sex Reversal 6
Chordee, Sex reversal, Hypospadias, Clitoral hypertrophy, Dysgerminoma, Gonadoblastoma OMIM:613762
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dehydration, Dilated cardiomyopathy ORPHA:79159
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Arthrogryposis... OMIM:614262
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology ORPHA:2868
Pseudovaginal Perineoscrotal Hypospadias
Ambiguous genitalia, male, Micropenis, Bifid scrotum, Cryptorchidism, Perineal hypospadias OMIM:264600
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... ORPHA:615
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Oligohydramnios, Cholestasis, Situs inver... OMIM:615415
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Pallor, Paroxysmal atrial tachycardia, Ventricular septal defect, C... ORPHA:49827
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia OMIM:616276
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Pulmonic stenosis, Abnormal heart valve morphology OMIM:126190
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Pallor, Hydrops fetalis, Preeclampsia, Polyhydramnios, Pericarditis, ... ORPHA:163596
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Hydrops fetalis, Ascites ORPHA:295
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Stroke, Tricuspid regurgitation, Left ventricular hypertrophy, Atr... OMIM:614022
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, P... ORPHA:75249
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Heart murmur, Ventricular septal ... ORPHA:99050
Lethal Congenital Contracture Syndrome 10
Torticollis, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Pulmonary hypoplasia, O... OMIM:617022
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... ORPHA:980
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... ORPHA:261529
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Patent ductus arteriosus after birth at term, Second de... OMIM:618782
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal ... OMIM:618815
Renal Tubular Dysgenesis
Tetralogy of Fallot, Polyhydramnios, Pulmonary hypoplasia, Oligohydramnios, Premature birth ORPHA:3033
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... ORPHA:216694
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Anomalous pulmonary venous return, Stroke, Atrial arrhythmia, Systol... ORPHA:99105
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Hydrops fe... OMIM:212093
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Primum atrial septal defect, Situs inversus totalis OMIM:619608
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Ovotestis, Hypospadias OMIM:611812
Hydrops Fetalis
Arrhythmia, Nonimmune hydrops fetalis, Polyhydramnios, Twin-to-twin transfusion, Lymphedema, Incr... ORPHA:1041
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Flexion contracture, Splenomegaly, Nonimmune hydrops fetalis, Abnormality of the am... OMIM:608540
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Ambiguous genitalia OMIM:250790
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Jau... ORPHA:57777
Meacham Syndrome
Congenital alveolar dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Cardiac total ano... OMIM:608978
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure OMIM:618234
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... ORPHA:555874
Cardiac Diverticulum
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Premature birth, Cardiomegaly, Congestive h... OMIM:269920
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Tricuspid regurgitation, Dysplastic pulmonary valve, Mitral valve prolapse,... OMIM:612863
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... OMIM:616866
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... ORPHA:3384
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... ORPHA:3304
Meckel Syndrome, Type 9
Ambiguous genitalia OMIM:614209
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Pericardial constriction, Hydrops fetalis, Recurrent lower res... OMIM:253250
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Tendon rupture, R... ORPHA:85451
Wild Type Attr Amyloidosis
Pulmonary edema, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, ... ORPHA:330001
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... ORPHA:228410
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Pedal edema, Hypertension,... ORPHA:563
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... ORPHA:300751
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, EMG: myopathic abnorma... OMIM:255160
Glycogen Storage Disease Iv
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Portal hypertens... OMIM:232500
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:139466
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tri... ORPHA:3405
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Reduced left ventricular ejection fraction, Holos... ORPHA:1677
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Stroke, Absent ankle pulse, Pallor, Myocardial infarction, Abnormal... ORPHA:90064
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:229
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal OMIM:613743
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Congenital diaphragmatic hernia, Flexion contracture, Emphysema ORPHA:171719
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Pseudo-Torch Syndrome 2
Petechiae, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Elevated hepatic tra... OMIM:617397
Grange Syndrome
Ventricular septal defect, Aortic regurgitation, Arterial stenosis, Patent ductus arteriosus, Hyp... ORPHA:79094
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... OMIM:616249
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis, Webbed neck OMIM:301950
Neuraminidase Deficiency
Hepatomegaly, Facial edema, Cherry red spot of the macula, Splenomegaly, Hydrops fetalis, Ascites... OMIM:256550
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... ORPHA:1055
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Foot dorsiflexor weak... ORPHA:477817
Heterotaxy, Visceral, 1, X-Linked
Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double outlet right ventr... OMIM:306955
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Bilateral lung agenesis, Neonatal death, Coarctation of aorta... OMIM:601612
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation ORPHA:3449
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Pulmonary hypoplasia, Hypertension, Oligohydra... OMIM:616733
Atrioventricular Septal Defect 3
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect OMIM:600309
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Decreased liver function, Hepatomegaly, Flexion contracture, He... ORPHA:367
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy OMIM:614947
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... ORPHA:324604
Takayasu Arteritis
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Skin ulcer, Vasculitis, Cerebral i... ORPHA:3287
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... OMIM:600858
Gonadoblastoma
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... ORPHA:206484
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertrophy, Asc... OMIM:261740
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Noonan Syndrome 11
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:618499
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure ORPHA:324588
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy OMIM:264270
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... ORPHA:1457
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Sarcosinemia
Pulmonic stenosis, Peroneal muscle weakness, Hypertrophic cardiomyopathy ORPHA:3129
Kagami-Ogata Syndrome
Diastasis recti, Hepatomegaly, Atrial septal defect, Flexion contracture, Splenomegaly, Pulmonic ... OMIM:608149
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Dextrocardia, Complete atriov... OMIM:264480
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:615297
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Conges... OMIM:602390
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:225
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect OMIM:615272
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... OMIM:619424
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Stroke, Systolic heart murmur, Ped... ORPHA:99103
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Hydrops fetalis, Arrhythmia, Ab... ORPHA:45452
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Aortic Aneurysm, Familial Thoracic 4
Abnormal left ventricular function, Posterior cerebral artery stenosis, Stroke, Bicuspid aortic v... OMIM:132900
Aphalangy With Hemivertebrae
Ventricular septal defect, Pulmonary hypoplasia OMIM:207620
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Ambiguous gen... OMIM:201810
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Webbed neck, Hypertrophic cardiomyopathy ORPHA:638
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Cardiomyo... OMIM:613313
Craniofaciofrontodigital Syndrome
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... ORPHA:363705
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... ORPHA:99104
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic ... OMIM:185500
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Pedal edema, Patent ductus arteriosus, S... OMIM:126320
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Webbed neck, Hypertrophic car... OMIM:615279
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Maternal d... ORPHA:276580
Catel-Manzke Syndrome
Coarctation of aorta, Camptodactyly, Ventricular septal defect, Dextrocardia, Overriding aorta OMIM:616145
Sandhoff Disease
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Recurrent respiratory infections, Cong... ORPHA:796
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Weakness of facial musculatu... ORPHA:98909
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... ORPHA:324410
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... ORPHA:1120
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Flexion contracture, Hypertrophic cardiomyopathy, Camptodact... ORPHA:1194
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Hypertension, Pulmonary ar... OMIM:613355
Thanatophoric Dysplasia
Atrial septal defect, Redundant skin, Polyhydramnios, Pulmonary hypoplasia, Patent ductus arterio... ORPHA:2655
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi... OMIM:620067
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hypotension, Elevated hepatic transaminase, Rhab... OMIM:212138
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H... ORPHA:276556
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Congenital diaphragmatic hernia, Multilobula... OMIM:601186
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... OMIM:619897
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Oligohydramnios OMIM:617021
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Tracheal Agenesis
Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the lungs ORPHA:3346
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... ORPHA:3093
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect OMIM:618496
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Atrial septal defect ORPHA:3469
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, F... ORPHA:276575
Distal Monosomy 19P13.3
Tricuspid valve prolapse, Ventricular septal defect, Pulmonary valve atresia ORPHA:96129
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... ORPHA:210122
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Nonimmune hydrops fetalis, Hydrops fetalis, Pulmonary hypoplasia OMIM:613124
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Rheumatic Fever
Abnormal mitral valve morphology, Pallor, Aplasia/Hypoplasia of the abdominal wall musculature, A... ORPHA:3099
Mitochondrial Trifunctional Protein Deficiency
Hydrops fetalis, Elevated circulating aspartate aminotransferase concentration, Arrhythmia, Chole... OMIM:609015
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia, Elevated hepatic tra... OMIM:235200
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Pulmonary hyp... OMIM:208540
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Cholesta... OMIM:614300
Capillary Malformation-Arteriovenous Malformation
Abnormal heart morphology, Arteriovenous malformation, High-output congestive heart failure, Peri... ORPHA:137667
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Myopathy, Congenital, Nonprogressive
Atrial septal defect, Weakness of facial musculature, Elevated hepatic transaminase, Polyhydramni... OMIM:619967
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Cerebral artery atherosclerosis, Arterial stenosis, Coronary ar... ORPHA:1192
Gm1-Gangliosidosis, Type I
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Hydrops fetalis, Dilated cardiomyopath... OMIM:230500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Atrial septal defect ORPHA:1388
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Knee flexion contracture, Pulmonary hypoplasia, Arthrogrypo... OMIM:616531
Noonan Syndrome 3
Tricuspid valve prolapse, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mit... OMIM:609942
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation ORPHA:83473
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Macroglossia, Atrioventricular canal defect,... OMIM:190685
Atrial Standstill 2
Stroke, Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Vascular dilatation, A... OMIM:615745
Congenital Enterovirus Infection
Hepatic failure, Hydrops fetalis, Premature birth, Hypotension, Myocarditis, Cholestasis, Pericar... ORPHA:292
Polymyositis
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Arrhythmia, Abn... ORPHA:732
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... OMIM:615355
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia, Thickened nuchal skin ... OMIM:263210
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Pulmonary hypopl... OMIM:616897
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... ORPHA:99094
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Alveolar cap... OMIM:265380
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Patent ductus arteriosus, Hyper... OMIM:615382
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly, Hydrops fetalis, Polyhydramnios, Aplasia/Hypoplasia of the lungs ORPHA:2204
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Flexion contracture, Scapular winging, Camptodactyly, Distal arthrogryposis, Pul... OMIM:617468
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Reduced muscle carnitine level, Endocardial fibroelastosis, Elevated hepatic transa... OMIM:212140
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Meier-Gorlin Syndrome 7
Ventricular septal defect, Pulmonary hypoplasia, Complete atrioventricular canal defect, Atrial s... OMIM:617063
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Polyhydramnios, Facial hypotonia, Decreased muscle mass, Congestive heart f... ORPHA:500533
Arterial Calcification, Generalized, Of Infancy, 1
Carotid artery calcification, Fetal distress, Generalized arterial calcification, Myocardial infa... OMIM:208000
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Pallor, Arrhythmia, Myocarditis, Periorbital edema, Edema, Cardiomyop... ORPHA:3386
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... ORPHA:275766
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:300978
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EMG: myopathi... ORPHA:206569
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Dilated cardiomyopathy, Noncompaction cardiomyopathy, Prolonged QT interval... OMIM:610198
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Patent foramen ovale,... OMIM:616028
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Pentalogy Of Cantrell
Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morphology, Tetralogy... ORPHA:1335
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Dk1-Cdg
Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Dilated cardiomyopathy, Con... ORPHA:91131
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2141
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Pallor, Hepatosplenomegaly, Reticular pattern on... ORPHA:99931
Fadd-Related Immunodeficiency
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Patent ductus arteriosus, Transposition of the great arteries, Truncus art... OMIM:612474
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... ORPHA:91387
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Mcdonough Syndrome
Diastasis recti, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ventricular sept... OMIM:248950
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia, Abnormal heart morphology OMIM:241800
Pseudoxanthoma Elasticum
Angina pectoris, Intermittent claudication, Mitral stenosis, Stroke, Cutis laxa, Restrictive card... OMIM:264800
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Congenital Tracheomalacia
Atrial septal defect, Cutis laxa, Single ventricle, Double aortic arch, Recurrent upper respirato... ORPHA:95430
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Dextrocardia, Abnormal hemidiaphragm morphology, Pulmonary hypopla... ORPHA:2257
Alg3-Cdg
Decreased liver function, Macroglossia, Coarctation of the descending aortic arch, Pulmonary hypo... ORPHA:79321
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Polyhydramnios, Pulmonary hypopla... ORPHA:3032
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal heart morphology ORPHA:70472
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure OMIM:606703
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventricular septal defect, Abnormality of t... ORPHA:1166
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Biventricular hypertrophy OMIM:250951
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... ORPHA:542306
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the ... OMIM:618901
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, Restrictive cardiomyopathy, Thickened nuchal skin fo... ORPHA:758
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Persistent fetal circulation, Ventricular septal defect, Persistent left superior... OMIM:618775
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Cong... ORPHA:1349
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, ... ORPHA:79083
Stiff Skin Syndrome
Bicuspid aortic valve, Elbow flexion contracture, Knee flexion contracture, Camptodactyly OMIM:184900
Trisomy 13
Atrial septal defect, Hydrops fetalis, Abnormal lung lobation, Ventricular septal defect, Patent ... ORPHA:3378
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2140
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Multiple Pterygium Syndrome, X-Linked
Amyoplasia, Hypoplastic heart, Flexion contracture, Polyhydramnios, Pulmonary hypoplasia, Edema, ... OMIM:312150
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Arthrogryposis multiplex conge... OMIM:607598
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Neonatal death, Premature birth, Congestive heart failure OMIM:301021
Gm1 Gangliosidosis
Abnormal heart morphology, Cherry red spot of the macula, Splenomegaly, Aspiration pneumonia, Mac... ORPHA:354
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Webbed neck, Truncus arteriosus OMIM:601355
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Webbed neck OMIM:616559
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Pulmonary hypoplasia, Decreased fetal movement OMIM:617194
Refsum Disease, Classic
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... ORPHA:244
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Hydrops fetalis, Nonimmune hydrops... OMIM:603830
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... OMIM:619313
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Cardiac amyloidosis, Left ventricular outflow tract ... ORPHA:439232
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Aortic valve stenosis, Premature skin wrinkling, Aortic atherosclerotic ... ORPHA:363618
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Fetal Gaucher Disease
Hepatomegaly, Flexion contracture, Splenomegaly, Intracranial hemorrhage, Hydrops fetalis, Abnorm... ORPHA:85212
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:261243
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... OMIM:619149
Tyshchenko Syndrome
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect OMIM:615102
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Hypoplastic heart, Flexion contracture, Polyhydramnios, Pulmonary hypoplasia, Edema, ... OMIM:253290
Proximal Spinal Muscular Atrophy
Facial diplegia, Multiple joint contractures, Atrial septal defect, Recurrent infections due to a... ORPHA:70
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Neonatal death, Pulmonary hypoplasia, Arthrogryposis multiplex con... OMIM:253310
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy OMIM:309801
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:601163
Hamamy Syndrome
Prolonged QRS complex, Complete atrioventricular canal defect, Atrial septal defect, Mitral regur... OMIM:611174
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Patent ductus arteriosus, Transposition of the g... OMIM:313850
Fabry Disease
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Myocardial infarction, Lymphedema, Ven... OMIM:301500
Mosaic Trisomy 16
Single coronary artery origin, Atrial septal defect, Premature birth, Preeclampsia, Coarctation o... ORPHA:1708
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Premature birth, Third degree atrioventricular block, Maternal ter... ORPHA:40366
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:613458
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... OMIM:310200
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:2412
Mosaic Trisomy 9
Atrial septal defect, Abnormal liver lobulation, Camptodactyly of finger, Hydrops fetalis, Abnorm... ORPHA:99776
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Maternal diabetes, Mitral atresia,... ORPHA:2248
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Pulmonary edema, Hepatomegaly, Pall... ORPHA:137675
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:617044
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Seve... ORPHA:444013
African Iron Overload
Abnormal heart morphology, Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Vi... ORPHA:139507
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Ambiguous genitalia OMIM:202110
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology, Camptodactyly of finger ORPHA:1759
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small thenar eminence, Camptodactyly, Mitral valve prolapse, Small... OMIM:211960
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Dehydration, Aortic valve stenosis OMIM:143880
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... OMIM:618280
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Abnormality of skeletal mu... ORPHA:2348
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Joubert Syndrome 18
Ventricular septal defect, Camptodactyly OMIM:614815
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Myocardial infarction, Hypertension, Hepatic steatosis... OMIM:615703
Necrotizing Enterocolitis
Peritonitis, Hypotension, Shock, Bradycardia, Edema, Ascites, Premature birth, Abnormal heart mor... ORPHA:391673
10Q22.3Q23.3 Microdeletion Syndrome
Tricuspid valve prolapse, Patent ductus arteriosus, Atrioventricular canal defect ORPHA:276413
Diamond-Blackfan Anemia 6
Atrial septal defect, Mitral regurgitation, Tetralogy of Fallot, Ventricular septal defect, Mitra... OMIM:612561
Silver-Russell Syndrome 3
Ambiguous genitalia, Cryptorchidism, Hypospadias OMIM:616489
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Gaucher Disease, Perinatal Lethal
Petechiae, Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Nonimmune hydrops fet... OMIM:608013
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Noonan Syndrome 12
Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis, Tetralogy of Fallot OMIM:618624
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... OMIM:605376
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Ragged-red muscle fibers, Limb muscle weakness, Cardiom... OMIM:609286
Mitochondrial Complex I Deficiency, Nuclear Type 20
Stroke, Microvesicular hepatic steatosis, Hepatic failure, Elevated hepatic transaminase, Dilated... OMIM:611126
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis... ORPHA:834
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618652
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Skin ulcer, Hypertrophic cardiomyo... ORPHA:848
Subaortic Stenosis, Membranous