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Gene: Gata4 MGI:95664

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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:
GATA binding protein 4
Synonyms:
Gata-4

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 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, Fused labia minora, Gonadal dysgenesis OMIM:616067
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia OMIM:306950
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Peripheral edema, Mitral regurgitation, Pul... ORPHA:75249
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... OMIM:614823
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... OMIM:400045
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Congenital Gerbode Defect
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... ORPHA:99095
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonadal tissue inappropr... ORPHA:98798
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... ORPHA:1909
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defe... OMIM:615524
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath... OMIM:619424
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia ORPHA:98797
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Ambiguous geni... OMIM:615542
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... OMIM:614262
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... ORPHA:57777
46,Xx Sex Reversal 4
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:617480
Beemer Lethal Malformation Syndrome
Ambiguous genitalia OMIM:209970
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Tricuspid regurgitation, Ascites, Pulmonary insufficiency, Hydrops fe... OMIM:619433
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, Neonatal death, Atria... OMIM:601186
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
8p23.1 deletion syndrome
Abnormal heart morphology, Atrioventricular canal defect, Congenital diaphragmatic hernia, Crypto... DECIPHER:39
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... ORPHA:2299
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Gonadal dysgenesis, Abnormal female external genital... OMIM:400044
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Serkal Syndrome
Abnormal penis morphology, Pulmonary hypoplasia, Oligohydramnios, Congenital diaphragmatic hernia... ORPHA:139466
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... OMIM:620067
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Congenital Tricuspid Valve Dysplasia
Premature birth, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent for... ORPHA:555874
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Ambiguous genitalia, Uro... ORPHA:753
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys... OMIM:613762
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Congenital Myopathy 11
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Weakness of facial musculature OMIM:619967
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
46,Xy Sex Reversal 5
Abnormal female external genitalia morphology, Sex reversal OMIM:613080
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele, Abnormal morphology of female... ORPHA:2141
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... ORPHA:99104
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg... OMIM:620236
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Transposition of the great arteries, Gonadal dysgen... OMIM:231060
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Bradycardia, Flexio... OMIM:618815
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Pulmonic stenosis OMIM:264140
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia OMIM:613571
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... ORPHA:555877
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Singl... ORPHA:3405
Transaldolase Deficiency
Biventricular hypertrophy, Telangiectasia, Coarctation of aorta, Atrial septal defect, Hydrops fe... ORPHA:101028
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the pulmonar... ORPHA:1166
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Nephronophthisis 16
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... OMIM:615382
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Atrioventricular block, ... ORPHA:1329
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Meacham Syndrome
Aortic valve stenosis, Abnormal vagina morphology, Hydrometrocolpos, Cryptorchidism, Congenital d... ORPHA:3097
Ring Chromosome Y Syndrome
Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater... ORPHA:261529
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... OMIM:619149
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm, Testicular atrophy, P... OMIM:601163
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Abnormal heart morphology, Ascites,... ORPHA:1041
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias OMIM:264600
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ab... ORPHA:95430
Li-Campeau Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ... OMIM:601927
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Nonimmune hydrops fetalis, Joint contracture, Flexion contracture, Abnormality of... OMIM:608540
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he... ORPHA:3400
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve pro... ORPHA:228410
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Leydig Cell Hypoplasia
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, A... ORPHA:755
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... OMIM:253300
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163976
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... ORPHA:1354
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia ORPHA:171719
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Hydrops fetalis, Polyhydramnios, Fetal pleural effusion OMIM:619462
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Congenital pulmonary airway malformation, Bilateral lung agenesis, Oligohyd... OMIM:611812
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Skeletal muscle atrophy, Abnormal vagina morphology... ORPHA:168563
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Patent foramen ovale, Sp... OMIM:616867
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy, Nonimmune hydrops fetalis OMIM:619003
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Metachondromatosis
Pulmonic stenosis OMIM:156250
Meckel Syndrome 14
Tricuspid regurgitation, Oligohydramnios, Increased nuchal translucency, Mitral regurgitation, Ap... OMIM:619879
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Right ventricula... OMIM:616028
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Ambiguous genit... OMIM:618901
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Meacham Syndrome
Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Male pseudo... OMIM:608978
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Cardiomyopathy, Ascites, Portal hypertension, Decreased fetal movement, ... OMIM:232500
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Ascites, Abnorm... ORPHA:90308
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Do... OMIM:179613
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycardia, Strok... ORPHA:49827
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension, Pu... OMIM:610205
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Fetal Encasement Syndrome
Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:614839
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Cryptorchidi... OMIM:300869
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death OMIM:276822
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Oligohydramnios, Cryptorchidism, Cardiomegaly, Perimembranous ventri... OMIM:620135
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec... ORPHA:45452
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Abnormal heart morphology, Congenital diaphragmatic hernia, Omphalocele, ... OMIM:263210
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism ORPHA:752
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis... OMIM:609008
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163971
Donnai-Barrow Syndrome
Abnormality of the uterus, Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal ... ORPHA:2143
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Shoulder girdle muscle weakness, Myopathy, Patent foramen ovale, Pelvic girdle muscle weakness, G... OMIM:615156
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Polyhydramnios, Hydrops fetalis, Pericarditis ORPHA:163596
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal OMIM:613743
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy... OMIM:615355
Fetal Minoxidil Syndrome
Cryptorchidism, Ventricular septal defect ORPHA:1918
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Camptodactyly, Flexion co... ORPHA:88630
Tonne-Kalscheuer Syndrome
Abnormal heart morphology, Decreased testicular size, Cryptorchidism, Congenital diaphragmatic he... OMIM:300978
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect OMIM:616559
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Cardiomegaly, Hydrops fetalis, Premature birth OMIM:269920
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:615297
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:261102
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... ORPHA:2847
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... OMIM:603830
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Cryptorchidism, Patent foramen ovale, Ventricular se... OMIM:618316
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Abnormal external genitalia, Ventricular septal defect ORPHA:3469
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal ... ORPHA:1120
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve... ORPHA:477817
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Seckel Syndrome 9
Pulmonary artery hypoplasia, Clitoral hypertrophy, Congenital diaphragmatic hernia, Ventricular s... OMIM:616777
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... OMIM:615009
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de... OMIM:616866
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Neuraminidase Deficiency
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Ascites, Ca... OMIM:256550
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr... OMIM:619657
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Limb muscle weakness, Abnormality of... ORPHA:90064
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Pleural effusion, Mitral valve prolapse, Pulmonary arterial hypertension... OMIM:620233
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta, Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atrophy OMIM:614300
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Ventricular septal defect, Atrial septal defect, Pulmonary sequestration, Patent duc... OMIM:618330
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Hypogonadism, External genital hypoplasia, Partial atrioventricular canal... OMIM:615996
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Atherosclerosis, Mitral regurgitation, Right bundle branch block, Left atrial ... OMIM:614008
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive... OMIM:620609
Meckel Syndrome, Type 9
Ambiguous genitalia OMIM:614209
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the uterus, Abnormal morpholo... ORPHA:991
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Atrial ... ORPHA:401935
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Lymphatic Malformation 13
Fetal pericardial effusion, Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Noni... OMIM:620244
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse, Camptodactyly OMIM:615539
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen ovale OMIM:619699
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Truncus arte... ORPHA:3426
Mmep Syndrome
Cryptorchidism, Ventricular septal defect ORPHA:3434
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Decreased testicular size, Acephalic spermatozoa OMIM:619044
Chromosome 5Q12 Deletion Syndrome
Hypotension, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Macroglossia,... OMIM:615668
Mulibrey Nanism
Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hydrops fetalis, Myoca... OMIM:253250
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Atrial septal defect, Tac... ORPHA:980
Nemaline Myopathy 9
Polyhydramnios, Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:615731
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Abnormal fetal nasal bone visualization, Comp... OMIM:190685
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... ORPHA:500159
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hypergonadotropic hypogonadism, Pulmonary hypopl... ORPHA:250999
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Pseudohermaphroditism, Female, With Skeletal Anomalies
Clitoral hypertrophy, Ambiguous genitalia OMIM:264270
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Second degree atrioventricular block, Ascites, Oligohydramnios, Ventr... OMIM:617021
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Xp22.13P22.2 Duplication Syndrome
Recurrent upper respiratory tract infections, Umbilical hernia, Congenital diaphragmatic hernia, ... ORPHA:284180
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... OMIM:619167
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Tyshchenko Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615102
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Emanuel Syndrome
Aortic valve stenosis, Cryptorchidism, Recurrent sinusitis, Ventricular septal defect, Truncus ar... OMIM:609029
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Emanuel Syndrome
Aortic valve stenosis, Hypogonadism, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular... ORPHA:96170
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de... OMIM:618280
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Ascites, Abnormal card... ORPHA:367
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Rheumatic Fever
Epistaxis, Erythema, Abnormal heart valve morphology, Abnormal pleura morphology, Pallor, Abnorma... ORPHA:3099
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Male pseudohermaphroditism, Ambiguous genitalia, Micropenis, Hypospadias, Scrotal ... OMIM:250790
Tetralogy Of Fallot
Tetralogy of Fallot, Cryptorchidism ORPHA:3303
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Congenital diaphragmatic hernia, Cryptorchidism, Abn... ORPHA:2470
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Cryptorchidism, Myopathy, Ventricular septal defect OMIM:616816
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat... ORPHA:329224
Chondrodysplasia, Blomstrand Type
Fetal ascites, Preductal coarctation of the aorta, Stillbirth, Polyhydramnios, Hydrops fetalis, P... OMIM:215045
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Joint contracture of the 5th finger, Joint contracture of the 4th finger, Patent foramen ovale, S... OMIM:618914
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Persistent left super... OMIM:618494
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Stillbirth, Abnormal cardiac septum morphology, Single ventricle, Flexion contracture, ... OMIM:308050
Transaldolase Deficiency
Patent foramen ovale, Ventricular septal defect, Telangiectasia, Coarctation of aorta, Atrial sep... OMIM:606003
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Hypospadias, Cryptorchidism ORPHA:36
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
Ebstein Malformation Of The Tricuspid Valve
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ... ORPHA:1880
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bic... ORPHA:371428
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Pallor, Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Premature birth, Cardiomyopathy, Nonimmune hydrops fetalis OMIM:618839
Autosomal Recessive Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia, Camptodactyly of finger, Umbilical hernia, Cong... ORPHA:2311
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Neonatal death, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Aplasia... ORPHA:2063
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:618205
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Fetal Gaucher Disease
Decreased fetal movement, Neonatal death, Fetal akinesia sequence, Stillbirth, Intracranial hemor... ORPHA:85212
Primary Ciliary Dyskinesia
Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Pulm... ORPHA:244
Beta-Thalassemia
Cholelithiasis, Skin ulcer, Hypertrophic cardiomyopathy, Pallor, Hypogonadotropic hypogonadism ORPHA:848
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Vacterl/Vater Association
Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorchidism, Congenital diaph... ORPHA:887
Prune Belly Syndrome
Abnormality of the uterus, Recurrent respiratory infections, Tetralogy of Fallot, Decreased testi... ORPHA:2970
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Arterial stenosis, Cerebral artery atherosclerosis, Abnormal mitral valve morphology, Coronary ar... ORPHA:1192
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Right atrial enlargement, Atrial septal defect OMIM:615219
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Cardiomyopathy, Fetal distress, Pleural effusion, Polyhydramnios, Dec... ORPHA:292
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Premature birth ORPHA:2123
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Arteriovenous malformation, Chylothorax, Congestive heart failure, Abnormal heart morp... ORPHA:137667
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Cardiomegaly, ... OMIM:616897
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Ambiguous genitalia, Transposition of the great a... ORPHA:1913
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fet... OMIM:620167
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Micrope... OMIM:613870
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Pulmonic stenosis OMIM:611553
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Transposition of the great arteries, Patent foramen ovale OMIM:616789
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, S... OMIM:618870
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect OMIM:300887
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hypospadias, Arthrogryposis multiplex congenita, Cryptorchidism ORPHA:250994
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s... OMIM:264480
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Cryptorchidism, Ventricular septal defect, Stroke, Arrhyt... OMIM:249270
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Congenital diaphragmati... ORPHA:1335
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral valve prolapse, Mitral stenosis, Ventri... OMIM:616564
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresi... ORPHA:99050
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Nonimmune hydrops fetal... OMIM:620014
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Androgen insufficiency, Cryptorchidism, Congenital diaphragmatic hernia, Displacem... ORPHA:95706
Catel-Manzke Syndrome
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect ORPHA:1388
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ar... ORPHA:3287
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:614261
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Polyhydramnios, Cryptorchidism, Redundant neck skin, Ventricular septal defect, Doub... OMIM:301056
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
3-Methylglutaconic Aciduria, Type V
Hypospadias, Dilated cardiomyopathy, Congestive heart failure, Decreased testicular size, Cryptor... OMIM:610198
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Decreased response to growth hormone stimulation test, Cryptorchid... ORPHA:363528
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Congestive heart failure, Rhabdomyolysis, Myopathy, Arrhythmia, Hydrops f... OMIM:609015
Developmental Delay, Language Impairment, And Ocular Abnormalities
Facial telangiectasia, Contracture of the proximal interphalangeal joint of the 5th finger, Pulmo... OMIM:620141
Ebstein Anomaly
Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept... OMIM:224700
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Polycystic ovaries, Male pseudohe... ORPHA:90796
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arteries, Ectopia cor... OMIM:313850
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Genitopalatocardiac Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Male pseudohermaphroditism, Gonadal dysgenesis, ... ORPHA:2075
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Hypoplastic left heart, ... ORPHA:402075
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, P... OMIM:615415
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276556
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... OMIM:600001
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Pulmonic stenosis OMIM:618282
15Q24 Microdeletion Syndrome
Microphallus, Decreased response to growth hormone stimulation test, Abnormal heart morphology, C... ORPHA:94065
Achondrogenesis, Type Ib
Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Kagami-Ogata Syndrome
Diastasis recti, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect... OMIM:608149
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Dry skin, Oligohydramnios, Mitral sten... ORPHA:163956
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Coronary artery ath... ORPHA:435638
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased serum testosterone concentration, Portal hype... ORPHA:465508
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate... OMIM:616276
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent foramen ovale, Limb hypertonia, Atrial septal defect, Limb joint contracture, Patent ductu... OMIM:620327
Phenobarbital Embryopathy
Tetralogy of Fallot, Hypospadias, Abnormal mitral valve morphology ORPHA:1919
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ... OMIM:314400
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Megalencephaly
Macroorchidism, Long penis, Atrial septal defect ORPHA:2477
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Sialidosis Type 2
Skeletal muscle atrophy, Ascites, Flexion contracture, Hydrops fetalis, Pedal edema ORPHA:87876
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
13Q12.3 Microdeletion Syndrome
Camptodactyly, Recurrent respiratory infections, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:412035
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR... ORPHA:99931
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aortic valve, Chordee, Abnorm... ORPHA:1772
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276575
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Seizures-Scoliosis-Macrocephaly Syndrome
Polyhydramnios, Atrial septal defect, Cryptorchidism ORPHA:466926
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Trisomy 1Q
Small scrotum, Camptodactyly of finger, Cryptorchidism, Congenital diaphragmatic hernia, Ventricu... ORPHA:261344
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Abnormality of the male genitalia, Double outlet right ventricle, Atrial septal d... OMIM:614886
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... OMIM:208000
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618950
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia ORPHA:276580
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... OMIM:617877
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a... OMIM:610168
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect,... OMIM:617602
American Trypanosomiasis
Periorbital edema, Cardiomyopathy, Congestive heart failure, Pallor, Arrhythmia, Myocarditis, Edema ORPHA:3386
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect,... OMIM:612530
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
Congenital Disorder Of Glycosylation, Type Il
Ascites, Fetal skin edema, Decreased fetal movement, Atrial septal defect, Pericardial effusion, ... OMIM:608776
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Abnormal heart morphology, Patent foramen ovale, Ventricular se... ORPHA:369891
Hamamy Syndrome
Atrial septal defect, Prolonged QRS complex, Complete atrioventricular canal defect, Mitral regur... OMIM:611174
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Oligohydramnios, Ventricular septal defect, Cardi... OMIM:617022
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardiomyopathy, Abnormal hear... OMIM:230500
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lymphedema, Ascites, P... OMIM:616843
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration ORPHA:101006
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... ORPHA:26793
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs, Omphalocele, Abnormal morpholog... ORPHA:1834
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, A... OMIM:619825
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary lymphangiectasi... OMIM:265380
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Flexion contracture, Skeletal muscle atrophy, Pulmonic stenosis ORPHA:75496
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:613706
Donnai-Barrow Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Omphalocele, Bicorn... OMIM:222448
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Opitz Gbbb Syndrome
Thyroglossal cyst, Bifid scrotum, Umbilical hernia, Abnormal heart morphology, Cryptorchidism, Pa... ORPHA:2745
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Cryptorchidism, Ventricular septal defect, Ambiguous genitalia, Hypoplasi... ORPHA:2772
Panhypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95513
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona... ORPHA:500
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Patent foramen ovale OMIM:614868
Chromosome 15Q14 Deletion Syndrome
Recurrent viral upper respiratory tract infections, Atrial septal defect, Ventricular septal defect OMIM:616898
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial sept... OMIM:612582
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu... OMIM:612946
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis ORPHA:2204
Craniofrontonasal Dysplasia
Hypospadias, Congenital diaphragmatic hernia, Shawl scrotum, Camptodactyly of finger ORPHA:1520
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Pulmonic stenosis OMIM:615280
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Increased variability in muscle fibe... OMIM:617228
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, Cryptorchidism OMIM:615502
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... OMIM:612561
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Transposition of the great a... OMIM:253800
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... ORPHA:91387
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ventricular s... OMIM:309801
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Patent foramen ovale, Ventricular septal defect OMIM:614961
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se... OMIM:153400
Noonan Syndrome 12
Tetralogy of Fallot, Decreased response to growth hormone stimulation test, Supravalvular aortic ... OMIM:618624
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... ORPHA:363705
Meckel Syndrome
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, True hermaphroditism ORPHA:564
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Ambiguous genitalia, Atrial septal defect, Micropenis, Hypoplastic rig... OMIM:618142
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Pulmonic stenosis OMIM:617600
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Renal Tubular Dysgenesis
Tetralogy of Fallot, Oligohydramnios, Polyhydramnios, Premature birth ORPHA:3033
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Congenital contracture, Abnormal heart morphology, Joint contractu... ORPHA:352490
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Congenital muscular t... ORPHA:457279
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Estrogen Resistance
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... OMIM:615363
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Cryptorchidism, Redundant neck skin, Ventricular septal defect, Pulmonary a... ORPHA:2519
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... ORPHA:2255
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex c... OMIM:208085
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Fryns Syndrome
Tetralogy of Fallot, Cryptorchidism, Congenital diaphragmatic hernia, Abnormal cardiac septum mor... ORPHA:2059
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Ambiguous genitalia OMIM:202110
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular... OMIM:115470
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Cryptorchidism, Ventricular septal defect OMIM:613730
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Breast aplasia, Decreas... ORPHA:3044
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Distal Xq28 Microduplication Syndrome
Epistaxis, Patent ductus arteriosus, Patent foramen ovale ORPHA:293939
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:610733
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Ventricular septal defect, Shawl scrotum, Polyhydramnios, Hypoplasia of penis ORPHA:2256
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect OMIM:619123
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Abnormal lung lobation, Congenital diaphragmatic hernia, Bicornuate uterus, Pul... ORPHA:958
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Boomerang Dysplasia
Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis ORPHA:1263
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi... OMIM:617506
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Truncus arter... OMIM:617478
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... OMIM:151100
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m... OMIM:252011
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Penile hypospadias, Congenital diaphragmatic ... ORPHA:1692
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased serum testosterone conc... ORPHA:2959
Abruzzo-Erickson Syndrome
Hypospadias, Atrial septal defect, Cryptorchidism, Coronal hypospadias ORPHA:921
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Myopathy, Myofibrillar, 6
Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Hypertrophic cardiomy... OMIM:612954
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Mitral regurgitation, Cryptorchidism, Ventricular septal defect, Atrial sep... OMIM:301039
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis OMIM:212780
German Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Lymphedema, Cryptorchidism, Ambiguous genitalia, Ab... ORPHA:2077
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Facial telangiectasia, Joint contracture of t... OMIM:602782
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Sex reversal, Hypotension, Clitoral hypertrophy, Abnormality of the Leydig ... ORPHA:168558
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Coffin-Siris Syndrome 3
Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Macroglossia, Central diaphragmatic... OMIM:614608
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Hypoplasia of penis, Hypospadias, Cryptorchidism ORPHA:1381
Fanconi Anemia, Complementation Group I
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:609053
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Abnormal T-wave, Decreased serum ... OMIM:241080
Monosomy 13Q34
Hematochezia, Epistaxis, Pulmonic stenosis, Common atrium ORPHA:96168
Trisomy X
Precocious puberty, Atrial septal defect, Ventricular septal defect ORPHA:3375
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Plantar te... ORPHA:69735
Cooper-Jabs Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal de... ORPHA:1488
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Sex reversal, Hypotension, Clitoral hypertrophy, Abnormality of the Leydig ... ORPHA:289548
Schisis Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Jansen-De Vries Syndrome
Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect OMIM:617450
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:100300
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, ... OMIM:616166
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Diabetic Embryopathy
Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Cryptorchidism, Abnormalit... ORPHA:1926
Trisomy 13
Patent ductus arteriosus, Hydrops fetalis, Atrial septal defect, Ventricular septal defect ORPHA:3378
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Hypoplasia of lymphatic... OMIM:153100
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Valvular pulmonary stenosis, Patent foramen ovale, Bicuspid... OMIM:300707
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis ORPHA:846
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased respon... ORPHA:3464
Meier-Gorlin Syndrome 7
Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ... OMIM:617063
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Gonadal dysgenesis, Tetralogy of Fallot, Hypogonadism, Cryptorchidism, Ventri... ORPHA:3306
Costello Syndrome
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal... ORPHA:3071
Hypothyroidism, Congenital, Nongoitrous, 5
Mitral regurgitation, Patent foramen ovale OMIM:225250
Gm1 Gangliosidosis
Cardiomyopathy, Cherry red spot of the macula, Congestive heart failure, Abnormal heart morpholog... ORPHA:354
Carpenter Syndrome 1
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Transposition of t... OMIM:201000
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618974
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Atelis Syndrome 1
Dry skin, Bronchiectasis, Atrial septal defect, Ventricular septal defect OMIM:620184
Zaki Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Patent foramen ovale OMIM:619648
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus, Skeletal muscle hypertrophy OMIM:600705
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atrophy OMIM:615802
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Miscarriage ORPHA:99927
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Patent foramen ovale OMIM:251290
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Sneddon Syndrome
Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypertension OMIM:182410
Periventricular Nodular Heterotopia 1
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Lambert Syndrome
Hypospadias, Ventricular septal defect ORPHA:1296
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... OMIM:618748
Stankiewicz-Isidor Syndrome
Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Pineal cyst, Shawl scrotum, Microp... OMIM:617516
Stiff Skin Syndrome
Elbow flexion contracture, Bicuspid aortic valve, Camptodactyly, Knee flexion contracture OMIM:184900
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis, Secundum atrial septal defect, Gonadal dysgenesis OMIM:611926
Kabuki Syndrome 2
Atrioventricular canal defect, Coarctation of aorta, Atrial septal defect, Pulmonic stenosis OMIM:300867
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Atrioventricular canal defect, Inguinal hernia, Congenital diaphragmati... ORPHA:2409
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Arthr... OMIM:607598
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Hypospadias ORPHA:276422
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Proximal 16P11.2 Microduplication Syndrome
Micropenis, Congenital diaphragmatic hernia ORPHA:370079
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:270450
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism ORPHA:168593
Intellectual Developmental Disorder, Autosomal Dominant 47
Supernumerary nipple, Increased nuchal translucency, Cryptorchidism, Ventricular septal defect OMIM:617635
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis OMIM:616977
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:620113
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Decreased muscle mass, Mitral regurgitation, Patent foramen ovale, Ventricu... OMIM:615582
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Atrial septal defect, Dextrocardia, Ventricular septal defect OMIM:618067
Distal Deletion 15Q
Hypoplastic left heart, Double outlet right ventricle with doubly committed ventricular septal de... ORPHA:1596
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Oligohydramnios, Polyhydramnios, Atrial septal defect OMIM:615476
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Focal Dermal Hypoplasia
Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology, Diastasis recti, Co... ORPHA:2092
Thakker-Donnai Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Transposition of... ORPHA:1780
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Atrial septal defect, Hydrocele testis, Patent ductus arteriosus... OMIM:614080
X-Linked Lissencephaly With Abnormal Genitalia
Cryptorchidism, Ventricular septal defect, Ambiguous genitalia, Hypoplasia of penis, Patent ductu... ORPHA:452
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defe... OMIM:614294
Multiple Pterygium Syndrome, Escobar Variant
Diaphragmatic eventration, Arthrogryposis multiplex congenita, Umbilical hernia, Congenital diaph... OMIM:265000
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93298
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Von Hippel-Lindau Disease
Macular edema, Upper limb muscle weakness, Cardiomyopathy, Pancreatic cysts, Palpitations, Pallor... ORPHA:892
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Hypogonadotropic hypogonadism, Co... OMIM:617159
Peripheral Cone Dystrophy
Pallor OMIM:609021
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Stillbirth, Atrial septal defect, Ventricular septal defect OMIM:263630
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Bilateral cryptorchidism, Muscle f... OMIM:619542
Mosaic Trisomy 9
Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelastosis, Oligohydram... ORPHA:99776
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Cryptorchidism, Ventricular septal defect OMIM:618504
Free Sialic Acid Storage Disease
Ascites, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis ORPHA:834
Acrocardiofacial Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Cryptorchidism, Truncus arteriosus... ORPHA:2008
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal lung lobation, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Tetralogy of Fallot, Complete atrioventricular canal defect, Neonatal death OMIM:617925
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93299
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de... OMIM:616652
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Tricuspid regurgitation, Type 1 muscle fiber pred... OMIM:620161
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia, Atrial septal defect, Patent foramen ovale OMIM:619184
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Morgagni diaphragmatic hernia, Atelect... OMIM:613177
Thanatophoric Dysplasia Type 2
Increased nuchal translucency, Redundant skin, Atrial septal defect, Aplasia/Hypoplasia of the lu... ORPHA:93274
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Muscular ventricular septal defect, Endometriosis, Perimembranous vent... ORPHA:363444
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Absence of stomach bubble on fetal sonography, Neonatal death, Per... OMIM:314390
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Hydrops fetalis, Cardiomyopathy ORPHA:88618
Filippi Syndrome
Ambiguous genitalia, Cryptorchidism, Ventricular septal defect OMIM:272440
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect OMIM:619908
Czeizel-Losonci Syndrome
Hypoplastic nipples, Dextrocardia, Posterolateral diaphragmatic hernia, Aplasia of the left hemid... ORPHA:2437
Thanatophoric Dysplasia
Increased nuchal translucency, Redundant skin, Atrial septal defect, Polyhydramnios, Patent ductu... ORPHA:2655
Grange Syndrome
Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve, Carotid artery stenosis, ... OMIM:602531
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Koolen-De Vries Syndrome
Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the small h... OMIM:610443
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm, Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve pr... OMIM:245600
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea OMIM:614851
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Vascular dilatation, Varicose veins, Camptodactyly, Pulmonic stenosis OMIM:618343
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Congestive heart failure, Polyhydramnios, Atrial septal defect, Facial hyp... ORPHA:500533
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Polyhydramnios, Hypo... ORPHA:1923
Holoprosencephaly 1
Micropenis, Single ventricle OMIM:236100
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu... OMIM:265300
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Premature adrenarche, Clitoral hypertrophy, Long penis, Increased circulating... ORPHA:90795
Joubert Syndrome 15
Micropenis, Ambiguous genitalia OMIM:614464
Mitral Valve Prolapse 1
Mitral regurgitation, Mitral valve prolapse OMIM:157700
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... OMIM:603387
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency, Aplasia of the left hemidiaphragm OMIM:618238
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Coarctation of aorta, Pulmonary arterial hypertension, Atrial septal defect, Pate... OMIM:614857
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Diastasis recti... ORPHA:576
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Patent ductus arteriosus,... OMIM:277600
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Redundan... OMIM:618164
Giant Cell Arteritis
Vasculitis, Epistaxis, Skin ulcer, Double outlet right ventricle with subpulmonary ventricular se... ORPHA:397
Autosomal Dominant Omodysplasia
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Bifid scrotum ORPHA:93328
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Ventricular septal defect, Atrial septal defect, Shawl scrotum, Bicornuate ... OMIM:145420
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Microphallus, Bifid scrotum, Absent scrotum, Cryptorchidism, Male pseudohermaphroditism, Ambiguou... OMIM:201810
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Watson Syndrome
Pulmonic stenosis OMIM:193520
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Dyssegmental Dysplasia, Silverman-Handmaker Type
Increased placental thickness, Abnormal heart morphology, Single umbilical artery, Flexion contra... ORPHA:1865
Developmental And Epileptic Encephalopathy 90
Limb hypertonia, Atrial septal defect OMIM:301058
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration OMIM:201100
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 3rd finger, Double outlet right ventricl... OMIM:618223
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Atrial septal defect OMIM:619356
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... ORPHA:2302
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Hypospadias, Cryptorchidism, Ventricular septal defect OMIM:218350
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,... OMIM:610759
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Peripheral arterial stenosis, Retinal arteriolar constriction OMIM:124950
Alg8-Cdg
Ascites, Oligohydramnios, Camptodactyly, Macroglossia, Hydrops fetalis, Edema, Premature birth ORPHA:79325
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Hypoplasia of the musculature, Pulmonary artery aneurysm, Aor... OMIM:609192
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Abnormal heart morphology, Atrioventricular canal defect, Oligohydra... ORPHA:508488
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Recombinant 8 Syndrome
Small scrotum, Camptodactyly of finger, Tetralogy of Fallot, Redundant skin, Cryptorchidism, Vent... ORPHA:96167
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Microphallus, Supernumerary nipple, Umbilical hernia, Cryptorchidism, Patent foram... OMIM:618454
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Hematochezia, Dilation of Virchow-Robin spaces, Oligohydra... ORPHA:261311
Congenital Rubella Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Lujan-Fryns Syndrome
Macroorchidism, Atrial septal defect, Camptodactyly of finger ORPHA:776
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Abn... ORPHA:505248
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Abnormal heart morphology, Cryptorchidism, Camptodactyly of toe, A... OMIM:175700
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regurgitation, Hip con... OMIM:615959
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale OMIM:619179
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph... ORPHA:528
Mgat2-Cdg
Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Hydrops fetalis, Patent ductus ... ORPHA:79329
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Mitral atresia, Ventricular septal defect, Atrial septal defect, Macrog... OMIM:614609
Wolcott-Rallison Syndrome
Ascites, Double outlet right ventricle, Atrial septal defect, Dehydration ORPHA:1667
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Bifid scrotum, Bilateral cryptorchidism, Glandular hy... OMIM:300219
Noonan Syndrome 14
Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral valve prolapse, Scapular winging, Pulmo... OMIM:619745
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Redundant neck skin, Atrial septal defect, Recurrent respiratory inf... ORPHA:1842
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus, Atrial septal defect OMIM:241310
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou... OMIM:610644
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Bradycard... ORPHA:40366
Trisomy 18
Abnormal morphology of female internal genitalia, Camptodactyly of finger, Congenital diaphragmat... ORPHA:3380
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Arterial Tortuosity Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Umbilical hernia, Congenital diaphragmatic hernia... OMIM:208050
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Supernumerary nipple, Cryptorchidism, Contracture of the proximal ... OMIM:618109
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Contractural Arachnodactyly, Congenital
Calf muscle hypoplasia, Aortic root aneurysm, Elbow flexion contracture, Mitral regurgitation, Mi... OMIM:121050
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus, Patent foramen ovale OMIM:607143
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... OMIM:616037
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Mayer-Rokitansky-Küster-Hauser Syndrome
Atrial septal defect, Pulmonic stenosis ORPHA:3109
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Camptodactyly of finger, Cryptorchidism, Ventricular septal defect, ... OMIM:300963
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Mitral regurgitation, Myopathy, Pulmonary arterial hypertension, P... OMIM:612541
Adrenal Hypoplasia, Congenital
Precocious puberty, Muscular dystrophy, Absence of pubertal development, Azoospermia, Adrenal ins... OMIM:300200
Chops Syndrome
Patent foramen ovale, Patent ductus arteriosus, Anomalous pulmonary venous return, Ventricular se... OMIM:616368
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Displacement of the urethra... ORPHA:1727
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Adrenal gland agenesis, Congenital d... OMIM:273395
Cornelia De Lange Syndrome 1
Pneumonia, Hypoplastic male external genitalia, Elbow flexion contracture, Cryptorchidism, Congen... OMIM:122470
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary hypoplasia OMIM:616546
Proximal 16P11.2 Microdeletion Syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Atr... ORPHA:261197
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Ventricular septal defect ORPHA:93267
Robinow Syndrome
Webbed penis, Small scrotum, Abnormal heart morphology, Decreased serum testosterone concentratio... ORPHA:97360
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin, Atrial septal defect ORPHA:1035
Halperin-Birk Syndrome
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Death in childhood, Perimembr... OMIM:618651
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Increased variability in muscle fiber diameter, Skeletal muscle atrophy,... ORPHA:17
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, Abnormal heart morphology, Decreased response to growth hormone stimula... ORPHA:485405
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Elbow contracture, Patent foramen ovale, Hip contracture, Bicuspid aortic ... OMIM:617137
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... ORPHA:97214
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Ogden Syndrome
Cardiogenic shock, Cryptorchidism, Ventricular septal defect, Pulmonary artery stenosis, Arrhythm... ORPHA:276432
Esophageal Atresia
Bronchitis, Tetralogy of Fallot, Pallor, Ventricular septal defect, Coarctation of aorta, Polyhyd... ORPHA:1199
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Periorbital edema, Joint contracture of the hand, Intestinal lymphangiectasia, Lymphedema, Pleura... OMIM:235510
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Tricuspid regurgitation, Mitral regurgitation, Cryptorchidism, Supraventric... ORPHA:404443
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Truncus arteriosus, Portal hypertension, Ventricular septal defect OMIM:616589
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Cherry red spot of the macula, Hydrops fetalis, Macroglossia, Abnormal placenta m... ORPHA:79255
White-Sutton Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Atrial septal defect, Facial hypotonia, Pa... OMIM:616364
Fibrochondrogenesis 1
Joint contracture of the hand, Patent foramen ovale, Stillbirth, Camptodactyly, Hydrops fetalis OMIM:228520
Holoprosencephaly
Tetralogy of Fallot, Panhypopituitarism, Abnormal pulmonary valve morphology, Cryptorchidism, Con... ORPHA:2162
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Perimembranous ventricular septal defec... OMIM:600987
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Increased circulating ACTH level, Increased circulating and... OMIM:615962
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Arterial dissection, Aortic dissection, Camptodactyly of finger, Abnormal h... ORPHA:284984
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:620654
Toriello-Carey Syndrome
Cardiomyopathy, Tetralogy of Fallot, Coarctation of aorta, Abnormal cardiac septum morphology, Pa... ORPHA:3338
Acrorenal-Mandibular Syndrome
Absent nipple, Uterus didelphys, Elbow flexion contracture, Congenital diaphragmatic hernia, Unic... OMIM:200980
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Camptodactyly, Pulmonar... OMIM:616894
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Recurrent pneumonia, Ventricular septal defect, Atr... OMIM:619769
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Alg9-Cdg
Hypoplasia of the musculature, Thickened nuchal skin fold, Tricuspid regurgitation, Abnormal hear... ORPHA:79328
Gaucher Disease, Perinatal Lethal
Desquamation of skin soon after birth, Ascites, Decreased fetal movement, Nonimmune hydrops fetal... OMIM:608013
Kapur-Toriello Syndrome
Joint contracture of the hand, Camptodactyly of finger, Cryptorchidism, Ventricular septal defect... OMIM:244300
Phace Association
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... OMIM:606519
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Cryptorchidism ORPHA:1647
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Aplasia/hypoplasia of the uterus, Cryptorchidism, Congenital diaphragmatic... ORPHA:96121
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Coarctat... OMIM:600460
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
Takenouchi-Kosaki Syndrome
Camptodactyly, Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis OMIM:616737
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:212140
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Decreased response to growth hormone stimulation t... OMIM:610978
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Abnormal heart valve morphology, Diastasis recti, Macroglossia, Flexion contractu... OMIM:253220
Neurodevelopmental Disorder With Spasticity And Poor Growth
Knee flexion contracture, Patent foramen ovale, Limb hypertonia, Achilles tendon contracture, Pat... OMIM:618076
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... ORPHA:2306
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Meningioma
Secondary growth hormone deficiency, Decreased serum estradiol, Hypothalamic hypothyroidism, Incr... ORPHA:2495
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Brain-Lung-Thyroid Syndrome
Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal d... ORPHA:209905
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Rhabdomyolysis, Patent foramen ov... OMIM:610505
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hypospadias, Precocious puberty, Mitral regurgitation, Cryptorchidism, Vent... ORPHA:254346
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Hypogonadism, Death in infancy, Ventricular septal defect, Micropenis, Pa... OMIM:300514
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Buratti-Harel Syndrome
Recurrent pneumonia, Dilation of Virchow-Robin spaces, Cryptorchidism, Atrial septal defect, Hypo... OMIM:619314
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pulmonary arterial hypertension, Abn... ORPHA:77261
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Elbow flexion contracture, Mitral regurgitation,... OMIM:608328
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Atri... ORPHA:75389
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Hydrometrocolpos, Tetralogy of Fallot, Glandular hypospadias, Cryptorchid... ORPHA:2473
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Coarctation of aorta, Ventricular septal defect OMIM:620210
Gabriele-De Vries Syndrome
Facial hypotonia, Distal arthrogryposis, Patent foramen ovale, Aortopulmonary collateral arteries OMIM:617557
17Q12 Microduplication Syndrome
Polyhydramnios, Atrial septal defect ORPHA:261272
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Patent ductus arteriosus, Morgagni diaphragmatic hernia, Ventric... OMIM:613309
Distal Triplication 15Q
Abnormal heart morphology, Hypoplastic aortic arch, Atrial septal defect, Camptodactyly, Flexion ... ORPHA:314588
Oligomeganephronia
Secundum atrial septal defect, Congenital diaphragmatic hernia, Pulmonary venous occlusion, Pulmo... ORPHA:2260
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Abnormal heart morphology ORPHA:254525
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort... ORPHA:391665
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Optic Atrophy 8
Mitral regurgitation, Mitral valve prolapse OMIM:616648
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Arterial rupture, Dermal translucency, Atrial septal defect OMIM:619115
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Cryptorchidism, Ambiguous genitalia, Hypospadias, Sex reversal OMIM:612651
Woods Syndrome
Supernumerary nipple, Ventricular septal defect OMIM:615236
Craniorachischisis
Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Inguinal hernia, Congenital di... OMIM:219100
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Small thenar eminence, Camptodactyly, Patent ductus arteriosus, Pul... OMIM:619148
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent pneumonia, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus... OMIM:617751
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, External genital hypoplasia, Cryptorchidism, Death in infancy, Neonata... OMIM:613390
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Heart murmur, Cryptorchidism, Atrial septal defect, Small scrotum ORPHA:2728
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Mitral valve prolapse, Hypogonadotropic hypogonadism, ... ORPHA:251066
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Aplasia of th... OMIM:158330
Noonan Syndrome 13
Lymphedema, Dry skin, Mitral regurgitation, Cryptorchidism, Mitral valve prolapse, Atrial septal ... OMIM:619087
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Ascites, Pleural effusion, Petechiae, Bradycardia, Cerebral hemorr... OMIM:617397
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Contractu... OMIM:617201
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Atrial septal defect ORPHA:1915
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Ventricular septal defect, Agenesis of the diaphragm, Sti... OMIM:236680
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopa... ORPHA:2556
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ... OMIM:123700
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Tetrasomy 15Q26
Camptodactyly, Hypoplastic aortic arch, Atrial septal defect, Patent ductus arteriosus OMIM:614846
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect OMIM:617364
Meckel Syndrome, Type 7
Aortic valve stenosis, Situs inversus totalis, Portal hypertension, Patent ductus arteriosus, Atr... OMIM:267010
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Mogs-Cdg
Generalized edema, External genital hypoplasia, Cardiomegaly, Pulmonary edema, Left ventricular h... ORPHA:79330
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Anemic pallor, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:600901
Keutel Syndrome
Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary arterial hyp... ORPHA:85202
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis OMIM:620185
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flexion contracture, Atrial septal defect, Cryptorchidism, Ventricular septal defect OMIM:617452
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Polyhydramnios, Atrial septal defect OMIM:611087
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormal cerebral vascular morphology, A... ORPHA:758
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Neonatal deat... OMIM:620300
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Hypomandibular Faciocranial Dysostosis
Abnormal morphology of female internal genitalia, Atrial septal defect, Polyhydramnios, Recurrent... ORPHA:1790
Kapur-Toriello Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic labia majora, Hypoplasia of penis, Pa... ORPHA:2328
Chromosome 14Q11-Q22 Deletion Syndrome
Macroglossia, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:613457
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty ORPHA:217377
Thanatophoric Dysplasia Type 1
Increased nuchal translucency, Redundant skin, Excessive wrinkled skin, Atrial septal defect, Apl... ORPHA:1860
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Abnormal lung lobation, Atrioventricular canal defect, Abnormal dental enam... ORPHA:818
Diets-Jongmans Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Ventricular s... OMIM:618846
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete... ORPHA:398079
Sweeney-Cox Syndrome
Patent ductus arteriosus, Patent foramen ovale OMIM:617746
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Supernumerary nipple, Dry skin, Cryptorchidism, Ventricular septal defect, Recurre... ORPHA:217346
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... OMIM:612863
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Dry ski... OMIM:280000
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Cryptorchidism, Congenital diaphragmatic hernia, Hernia, Aplasia... ORPHA:280
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Ventricular septal defect, Patent ductus arteriosus, Endometriosis OMIM:613680
Mycophenolate Mofetil Embryopathy
Coarctation of aorta, Hydrops fetalis, Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:268249
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Ventricular septal defect ORPHA:457193
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Edema, Stillbirth OMIM:200610
Optic Atrophy 1
Pallor OMIM:165500
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Angin... OMIM:177850
Kawasaki Disease
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:2331
Mosaic Variegated Aneuploidy Syndrome 1
Embryonal rhabdomyosarcoma, Atrial septal defect, Pulmonic stenosis OMIM:257300
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia... ORPHA:90794
Cerebrofacioarticular Syndrome
Abnormal heart morphology, Camptodactyly, Pulmonic stenosis ORPHA:314679
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... OMIM:619268
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Camptodactyly of finger, Supernumerary nipple, Umbilical hernia, Cryptorchidism, ... ORPHA:373
Brachydactyly, Type B1
Camptodactyly, Joint contracture of the hand, Micropenis, Ventricular septal defect OMIM:113000
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Congestive heart failure, Dilatation of the cerebral arte... ORPHA:391487
Camurati-Engelmann Disease, Type 2
Skeletal muscle atrophy, Mitral regurgitation, Hip contracture, Mitral valve prolapse, Knee flexi... OMIM:606631
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Pallor, Recurrent respiratory infections, Lymphedema ORPHA:3226
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Cryptorchidism, Ventricular septal defect, Subvalvular aort... OMIM:613001
Brittle Cornea Syndrome
Camptodactyly, Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Lymphedema, Pancreatic lymphangiectasis, Ascites, Polyhydramnios, Cryptorchidism, Redundant neck ... OMIM:235255
Tetraamelia Syndrome 2
Absent nipple, Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins, M... OMIM:618021
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Anemic pallor, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Aortic aneurysm, Limb hypertonia, A... OMIM:620070
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Hydrops fetalis, Atrial septal defect, Ventricular septal defect OMIM:263520
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi... ORPHA:398069
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Diastasis recti, Polyhydramnios, Ventricular septal defect ORPHA:254534
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Patent foramen ovale, Jo... OMIM:618460
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Decreased respon... OMIM:601808
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Mitral stenosis OMIM:617660
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Hypotension, Male hypogonadism, Hypogonadism, Hypopituitaris... ORPHA:91349
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus, Oligohydramnios, Ventricular septal defect... ORPHA:411709
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Stroke, Heart murmur, Dil... ORPHA:1054
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Abnormal cerebral vascular morphology, Abnormal female external genitalia mor... ORPHA:2637
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... OMIM:301043
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Retinal hemorrhage, Coronary art... ORPHA:51608
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... OMIM:607721
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Dilation of Virchow-Robin spaces, Contracture of the proximal interphalangeal joint of the 2nd fi... OMIM:300998
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Hypertension, Mitral regurgitation, Mitral valve prolapse OMIM:173900
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Retinal arterial tortuosity, Patent foramen ovale, Cardiomegaly, Vitreou... OMIM:620371
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Hereditary Spherocytosis
Cholelithiasis, Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Lissencephaly, X-Linked, 2
Micropenis, Decreased testicular size, Ambiguous genitalia OMIM:300215
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Cryptorchidism, Ventricular septal defect OMIM:612938
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Atrial septal defect, Pulmonic sten... ORPHA:1340
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Peripheral pulmonary artery stenosis, Aortic root aneury... ORPHA:280633
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Limb joint contracture, Atrial septal defect, Cryptorchidism, Ventricular septal defect ORPHA:505237
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Hypopituitarism, Pallor, High-... ORPHA:231226
Hemoglobin D Disease
Pallor ORPHA:90039
Ogden Syndrome
Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Torsade de pointes, Prematur... OMIM:300855
Microphthalmia, Syndromic 2
Aortic valve stenosis, Septate vagina, Hypoplastic aortic arch, Cryptorchidism, Mitral valve prol... OMIM:300166
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Neurocardiofaciodigital Syndrome
Tetralogy of Fallot, Double inlet left ventricle, Atrial septal defect, Patent ductus arteriosus OMIM:619869
Paternal Uniparental Disomy Of Chromosome 5
Polyhydramnios, Secundum atrial septal defect ORPHA:96190
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Aortic root aneurysm, Tricuspid regurgitation, Abnormal heart valve morphol... ORPHA:230851
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Stroke-like episode, Nonimmune hydrops fetalis, Pericardial effusion, Flexion con... OMIM:212065
Campomelic Dysplasia
Recurrent upper respiratory tract infections, Abnormal heart morphology, Contracture of the dista... OMIM:114290
Mosaic Trisomy 16
Abnormal heart morphology, Ventricular septal defect, Single coronary artery origin, Coarctation ... ORPHA:1708
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Congenital Disorder Of Glycosylation, Type Iil
Dry skin, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Peau d'orange OMIM:614576
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:1237
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis, Camptodactyly of finger ORPHA:896
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Diamond-Blackfan Anemia 5
Hypospadias, Ventricular septal defect OMIM:612528
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Alg12-Cdg
Biventricular hypertrophy, Muscular ventricular septal defect, Patent foramen ovale, Camptodactyl... ORPHA:79324
Congenital Myopathy 22B, Severe Fetal
Hypoplasia of the musculature, Shoulder flexion contracture, Elbow flexion contracture, Ascites, ... OMIM:620369
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Cryptorchid... ORPHA:96147
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins... OMIM:619705
Fryns Syndrome
Joint contracture of the hand, Ectopic pancreatic tissue, Chylothorax, Bifid scrotum, Cryptorchid... OMIM:229850
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Ventricular septal defect, Hypoplasia of penis, Hypospadias, Patent ductus arteri... ORPHA:77298
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Aymé-Gripp Syndrome
Breast hypoplasia, Congenital diaphragmatic hernia, Cryptorchidism, Inguinal hernia, Camptodactyl... ORPHA:1272
Narcolepsy Type 1
Precocious puberty, Hyperhidrosis, Male sexual dysfunction, Female sexual dysfunction ORPHA:2073
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hydrops fetalis OMIM:613673
Pontocerebellar Hypoplasia, Type 17
Patent ductus arteriosus, Secundum atrial septal defect, Limb hypertonia, Ventricular septal defect OMIM:619909
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis, Congestive heart failure OMIM:166210
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Diaphragmatic eventration, Cryptorchidism, Ventricular septal defect... OMIM:620025
Tsh-Secreting Pituitary Adenoma
Secondary growth hormone deficiency, Hypotension, Male hypogonadism, Enlarged pituitary gland, In... ORPHA:91347
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Strok... ORPHA:79282
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Hypertrophic cardiomyopathy, Bilateral cryptorchidism, Redundant skin, ... OMIM:617403
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Biventricular hypertrophy, Tricuspid regurgitation, Mitral valve prolapse, ... OMIM:617402
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Ambiguous genitalia, Ventricular septal defect OMIM:617895
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect OMIM:619721
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Dehydration, Pallor, Cardiac arrest, Edema ORPHA:20
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Dystonia 28
Precocious puberty, Hypothyroidism, Torticollis ORPHA:589618
Fanconi Anemia, Complementation Group C
Cryptorchidism, Ventricular septal defect, Anemic pallor, Flexion contracture, Hypergonadotropic ... OMIM:227645
Kabuki Syndrome
Precocious puberty, Cryptorchidism, Congenital diaphragmatic hernia, Abnormal cardiac septum morp... ORPHA:2322
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent ductus arteriosus, Mitral regurgitation, Patent foramen ovale ORPHA:457395
Fanconi Anemia, Complementation Group F
Pneumonia, Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism, A... OMIM:603467
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Cryptorchidism, Ventricular septal defect, Neonatal death, Atrial septal... OMIM:620024
Waldenström Macroglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, ... ORPHA:33226
Zechi-Ceide Syndrome
Abnormal heart morphology, Atrial septal defect ORPHA:217017
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Polyhydramnios, Cryptorchidism, ... ORPHA:1655
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ... OMIM:212112
Cardiofaciocutaneous Syndrome 1
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:115150
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Dilated cardiomyopathy, Decreased response to growth hormone s... ORPHA:273
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Mucopolysaccharidosis Type 7
Ascites, Hydrops fetalis, Arteriovenous malformation, Lymphedema ORPHA:584
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Mitral regurgitation, Atrial septal defect, Ventricular septal defect OMIM:615879
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Abnormal heart morphology, Pallor, Radial artery aplasia, Ven... ORPHA:124
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Burn-Mckeown Syndrome
Hypomimic face, Atrial septal defect, Ventricular septal defect OMIM:608572
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Adrenal hyperplasia, Ve... ORPHA:369929
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Erythema, Dry skin, Left ventricular hypertrophy, Atrial septal defect, Cerebral edema, Left-to-r... OMIM:620510
19P13.3 Microduplication Syndrome
Precocious puberty, Unilateral cryptorchidism, Pulmonary arterial hypertension, Ventricular septa... ORPHA:447980
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Angioedema, Congestive heart... ORPHA:3260
Holoprosencephaly 2
Anterior pituitary agenesis, Single ventricle OMIM:157170
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Cerebra... ORPHA:136
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Mitral regurgitation, Patent foramen ovale, Dysplastic tricus... OMIM:157800
Stevenson-Carey Syndrome
Camptodactyly, Joint contracture of the hand, Atrial septal defect, Left superior vena cava drain... OMIM:611961
Breath-Holding Spells
Pallor OMIM:607578
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Coarctation of aorta, Dextrocardia, Atrioventricular canal defect OMIM:618929
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Heart murmur, Arteria lusoria, Patent foramen ovale OMIM:618653
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Perimembranous ventricular septal defect, Atrial septal defect, Microp... OMIM:158170
Evans Syndrome
Epistaxis, Syncope, Pallor, Petechiae ORPHA:1959
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat... OMIM:618775
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Bicornuate uteru... OMIM:154400
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Palmar telangiectasia, Nonimmune hydrops fe... OMIM:607823
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Ambiguous genitalia, Pancreatic fibrosis, Polyhydramnios, Pulmonary hy... OMIM:615503
Alagille Syndrome
Peripheral pulmonary artery stenosis, Cryptorchidism, Ventricular septal defect, Telangiectasia o... ORPHA:52
Charge Syndrome
Cryptorchidism, Ventricular septal defect, Overriding aorta, Micropenis, Atrial septal defect, Hy... OMIM:214800
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
White-Sutton Syndrome
Abnormal heart morphology, Inguinal hernia, Congenital diaphragmatic hernia, Ventral hernia, Faci... ORPHA:468678
Fumarase Deficiency
Ascites, Perimembranous ventricular septal defect, Pallor, Polyhydramnios OMIM:606812
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Elbow flexion contracture, Prominent scal... ORPHA:536471
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Bilateral cryptorchidism, Ventricular septal defect, Recurrent aspiration pn... OMIM:300472
Farber Disease
Skeletal muscle atrophy, Cherry red spot of the macula, Ascites, CNS foam cells, Joint swelling, ... ORPHA:333
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Diastasis recti, Ventricular septal defect, Macroglossia, Pulmonic stenosis ORPHA:488632
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Dry skin, Cryptorchidism, Hip contracture, Ventricular septal defect, Hypoplastic aorti... OMIM:619503
2Q37 Microdeletion Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Supernumerary nipple ORPHA:1001
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph... ORPHA:2257
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Ventricular septal... ORPHA:1425
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, H... ORPHA:739
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Congenital diaphragmatic herni... OMIM:614437
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Cryptorchidism, Knee flexion contracture, Hip contracture, A... ORPHA:85201
Aica-Ribosiduria Due To Atic Deficiency
Clitoral hypertrophy, Fused labia minora, Secundum atrial septal defect OMIM:608688
Ellis Van Creveld Syndrome
Abnormal morphology of female internal genitalia, Atrioventricular canal defect, Abnormal heart v... ORPHA:289
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Recurrent pneumonia, Ventricular septal defect, Pulmonary arterial hyperten... OMIM:616449
Beta-Thalassemia Major
Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Hypopituitarism, Pallor, High-... ORPHA:231214
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration OMIM:617808
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... ORPHA:466791
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Ventricular septal defect, Hyp... OMIM:245150
Short-Rib Thoracic Dysplasia 12
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:269860
Craniofrontonasal Syndrome
Umbilical hernia, Breast hypoplasia, Congenital diaphragmatic hernia, Cryptorchidism, Shawl scrot... OMIM:304110
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Hypospadias, Cryptorchidism, Ventricular septal defect ORPHA:494344
17Q23.1Q23.2 Microdeletion Syndrome
Congenital contracture, Pulmonary arterial hypertension, Atrial septal defect, Shawl scrotum, Pat... ORPHA:261279
Filippi Syndrome
Supernumerary nipple, Cryptorchidism, Ventricular septal defect ORPHA:3255
Congenital Syphilis
Myocarditis, Large placenta, Hydrops fetalis, Premature birth ORPHA:499009
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Macroorchidism, Atrial septal defect, Flexion contracture, Ascending t... OMIM:309520
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Gonadal dysgenesis, Ventricular septal defect ORPHA:1770
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:222470
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexio... ORPHA:70
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Spontaneous pneumothorax, Umbilical hernia, Congenital diaphragmatic her... OMIM:619656
Roifman Syndrome
Noncompaction cardiomyopathy, Recurrent pneumonia, Hip contracture, Ventricular septal defect OMIM:616651
Galactosialidosis
Conjunctival telangiectasia, Nonimmune hydrops fetalis, Cherry red spot of the macula OMIM:256540
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Lymphedema, Telangiectasia of extensor s... OMIM:137940
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Portal hypertension, Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect,... OMIM:620005
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal... OMIM:612562
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Bilateral f... OMIM:300868
Short Stature-Micrognathia Syndrome
Small scrotum, Cryptorchidism, Ventricular septal defect, Penoscrotal hypospadias, Micropenis, Sk... OMIM:617164
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect ORPHA:261190
Hardikar Syndrome
Portal hypertension, Patent foramen ovale, Ventricular septal defect, Pulmonary artery stenosis, ... OMIM:301068
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve prolapse, Dextroc... OMIM:620305
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia, Pallor OMIM:615234
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Abnormal heart morphology, Congenital diaphragmatic hernia, Cryptorchidism, Ambiguous genitalia, ... OMIM:617641
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus, Arthrogryposis multiplex congenita OMIM:616258
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Hypotension, Hypertrophic cardiomyopathy, Azoospermia,... ORPHA:361
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ... ORPHA:353281
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ... ORPHA:1600
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Ventricular septal defect, Labial hypoplasia, Micropenis OMIM:620073
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Cryp... OMIM:192430
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis OMIM:618265
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Labial hypertrophy, Oligohydramnios, Cryptorchidism, Ventricular septal defec... ORPHA:96191
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Prader-Willi Syndrome Due To Translocation
Abnormal heart morphology, Patent ductus arteriosus, Patent foramen ovale ORPHA:177907
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Joint contracture OMIM:615919
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitation, Mitral valve prolap... ORPHA:363700
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Umbilical hernia, Tetralogy of Fallot, Cryptorchidism, Congenital diaphragm... OMIM:135900
Silver-Russell Syndrome 3
Unilateral cryptorchidism, Ambiguous genitalia, Penoscrotal hypospadias OMIM:616489
Meckel Syndrome, Type 4
Atrial septal defect, Bile duct proliferation, Ventricular septal defect OMIM:611134
Meckel Syndrome, Type 8
Ambiguous genitalia OMIM:613885
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Atrial septal defect OMIM:614526
Fg Syndrome Type 1
Small pituitary gland, Facial wrinkling, Cryptorchidism, Mitral valve prolapse, Coarctation of ao... ORPHA:93932
Hennekam Syndrome
Arteriovenous malformation, Chylothorax, Lymphedema, Camptodactyly of finger, Ascites, Pulmonary ... ORPHA:2136
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia, Facial hypot... ORPHA:2131
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Heart murmur, Abnormal vena cava morphology, Cryptorchidism, Ventricular septal defect ORPHA:166035
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Palmoplantar scaling... OMIM:605676
Agnathia-Otocephaly Complex
Polyhydramnios, Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:202650
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy ORPHA:401923
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Decreased muscle mass, Cryptorchidism, Camptodactyly, Cerebral e... ORPHA:3063
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... OMIM:608800
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect OMIM:618354
Perlman Syndrome
Congenital diaphragmatic hernia, Hypoplasia of the abdominal wall musculature, Cryptorchidism, Pa... OMIM:267000
Degcags Syndrome
Pneumonia, Pallor, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Persistent le... OMIM:619488
Cantu Syndrome
Congenital hypertrophy of left ventricle, Cardiomegaly, Bicuspid aortic valve, Pericardial effusi... OMIM:239850
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Abnormal heart morphology, Patent foramen ovale, Vent... ORPHA:438213
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hypertensive crisis, Generalized edema, Edema, Pleuritis, Pallor, Respiratory tract in... ORPHA:544482
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Atrioventricular canal defect, Cryptorchidism, Ventricular septal defect... ORPHA:3047
Fanconi Anemia, Complementation Group D2
Annular pancreas, Abnormal heart morphology, Cryptorchidism, Anemic pallor, Micropenis, Patent du... OMIM:227646
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Achondrogenesis, Type Ia
Increased nuchal translucency, Absence of stomach bubble on fetal sonography, Stillbirth, Polyhyd... OMIM:200600
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Skeletal muscle atrophy, Hyperinsulinemia, ... OMIM:246200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Congestive heart failure, Abnormal heart morphology, Patent foramen ovale, ... ORPHA:444077
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Pleural ... ORPHA:453499
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of finger, Ascites, Mitral regurgitation, Mitral valve prolapse, Camptodactyly of t... ORPHA:2848
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Common atrium, Left superior vena cava draining to coronary sinus OMIM:619143
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Camptodactyly of finger, Tr... OMIM:143095
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Hypopituitarism, Pallor, Ragged-red muscle fibers, Scapular winging OMIM:600462
Joubert Syndrome 18
Camptodactyly, Ventricular septal defect OMIM:614815
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp... ORPHA:363958
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Oligohydramnios, Situs inversus totalis, Portal hypertension, Neonatal dea... OMIM:208540
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Pal... ORPHA:565612
Kleefstra Syndrome
Recurrent respiratory infections, Supernumerary nipple, Tetralogy of Fallot, Cryptorchidism, Vent... ORPHA:261494
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Cryptorchidism, Decreased response to growth hormo... ORPHA:254516
Beckwith-Wiedemann Syndrome
Macroglossia, Abnormal pancreas morphology, Umbilical hernia, Hypertrophic cardiomyopathy, Exocri... ORPHA:116
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Abnormal lung lobation, Supernumerary ni... OMIM:312870
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Cryptorchidism, Ventricular septal defect ORPHA:404440
Cranioectodermal Dysplasia 2
Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defect, Polyhydramnios, Hydrops... OMIM:613610
Costello Syndrome
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrhythmia, Atrial... OMIM:218040
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Abnormal lung lobation, Decreased response to growth hormone stimulation te... OMIM:614114
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Edema, Ventricular septal defect OMIM:618348
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect OMIM:613792
Beta-Thalassemia Intermedia
Cholelithiasis, Skin ulcer, Hypogonadism, Pallor, High-output congestive heart failure, Pulmonary... ORPHA:231222
Cornelia De Lange Syndrome
Abnormality of the uterus, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de... ORPHA:199
Mandibuloacral Dysplasia Progeroid Syndrome
Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale, Left ventricular hypertrophy... OMIM:619127
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Cryptorchidi... OMIM:616222
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:220500
Distal Duplication 5Q
Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, H... ORPHA:96097
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Absent gallbladder, Cryptorchidism, Ventricular septal defect, Atrial se... ORPHA:163979
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:276621
Juvenile Polyposis Of Infancy
Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Freckled genitalia, Abnormal hear... ORPHA:79076
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, Cr... ORPHA:95699
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Muscular dystrophy, Abnormal lung lobation, Ascites, Vaginal neoplasm, Incr... ORPHA:1052
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Joint contracture, Polyhydramnios, Recurrent lower respiratory tract infect... OMIM:618005
Neuroendocrine Tumor Of The Colon
Abnormal pulmonary valve cusp morphology, Hypotension, Right ventricular failure, Tricuspid regur... ORPHA:100080
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Cryptorchidism, Atrial septal defect, Scapular winging, Micropenis, Patent ductus ... OMIM:609625
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Cardiospondylocarpofacial Syndrome
Mitral regurgitation, Mitral valve prolapse ORPHA:3238
Poland Syndrome
Absence of subcutaneous fat, Cryptorchidism, Congenital diaphragmatic hernia, Atrial septal defec... ORPHA:2911
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Cardiac conduction abnormality, ... ORPHA:353277
Ellis-Van Creveld Syndrome
Cryptorchidism, Atrial septal defect, Common atrium, Hypospadias, Epispadias OMIM:225500
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Increased nuchal translucency, Ventri... ORPHA:3472
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Abnormal endometrium morphology, Ovarian fibroma... ORPHA:314478
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Char Syndrome
Supernumerary nipple, Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
16P13.11 Microdeletion Syndrome
Cryptorchidism, Atrial septal defect, Camptodactyly of finger, Ventricular septal defect ORPHA:261236
Prolactinoma
Secondary growth hormone deficiency, Hypotension, Male hypogonadism, Hypogonadism, Pallor, Hypogo... ORPHA:2965
Schneckenbecken Dysplasia
Polyhydramnios, Stillbirth, Nonimmune hydrops fetalis OMIM:269250
De Barsy Syndrome
Decreased muscle mass, Prominent veins on trunk, Cryptorchidism, Excessive wrinkled skin, Ventric... ORPHA:2962
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Sotos Syndrome
Muscular ventricular septal defect, Cryptorchidism, Ventricular septal defect, Atrial septal defe... OMIM:117550
Specc1L-Related Hypertelorism Syndrome
Tetralogy of Fallot, Female pseudohermaphroditism, Cryptorchidism, Ventricular septal defect, Arr... ORPHA:1519
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Camptodactyly, Atrial septal defect ORPHA:459061
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Flexion contracture, Atrial septal defect, Recurrent respiratory inf... OMIM:619383
Contractures-Developmental Delay-Pierre Robin Syndrome
Peripheral pulmonary artery stenosis, Wrist flexion contracture, Hypospadias, Atrial septal defect ORPHA:436003
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Aortic isthmus hypoplasia, Mitral valve prolapse, Ventricular septal defe... OMIM:180849
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Secundum atrial septal defect, Camptodactyly of finger, Supernu... OMIM:619951
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:616975
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, Lower limb hypertonia, Ventricular septal defect OMIM:619995
Pituitary Apoplexy
Hypotension, Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, D... ORPHA:95613
Septopreoptic Holoprosencephaly
Precocious puberty, Central diabetes insipidus, Anterior hypopituitarism ORPHA:280195
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
C Syndrome
Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Cutis laxa, Patent ductus arteri... OMIM:211750
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Patent ductus arteriosus, Atrial septal defect, Scapular winging, Ventricular septal defect OMIM:617061
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Atrial septal defec... OMIM:163950
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Hyperi... OMIM:262190
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification OMIM:114065
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her... OMIM:301044
Diamond-Blackfan Anemia 1
Congestive heart failure, Pallor, Ventricular septal defect, Coarctation of aorta, Atrial septal ... OMIM:105650
Ulnar-Mammary Syndrome
Abnormality of the uterus, Camptodactyly of finger, Breast aplasia, Decreased fertility, Cryptorc... ORPHA:3138
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Dravet Syndrome
Pallor ORPHA:33069
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent ductus arteriosus, Patent foramen ovale OMIM:300990
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Lymphedema, Abnormal pulmonary valve morphology, Crypt... ORPHA:648
Craniofacioskeletal Syndrome
Interrupted aortic arch, Absent gallbladder, Cryptorchidism, Ventricular septal defect, Atrial se... OMIM:300712
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Hypospadias, Cryptorchidism, Ventricular septal defect OMIM:619103
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... ORPHA:363618
Syndromic Diarrhea
Aortic regurgitation, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy ... ORPHA:84064
Retinitis Pigmentosa 51
Pallor OMIM:613464
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Fused labia minora, Atrial septal defect, Vaginal atresia, Camptodactyl... OMIM:207410
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect OMIM:620511
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresi... ORPHA:2876
Spondyloocular Syndrome
Lymphedema, Mitral valve prolapse, Atrial septal defect, Dysplastic aortic valve, Unilateral cryp... OMIM:605822
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Ambiguous genitalia, female, Fused labia minora, Increased size of the clitoris ORPHA:2975
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Dextrocardia, Patent ductus ... OMIM:619534
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Decreased serum testosterone concentration, Absent scrotum, Cryptorchidism, Absence ... ORPHA:495875
Fetal Akinesia Deformation Sequence 1
Congenital contracture, Premature birth, Decreased muscle mass, Camptodactyly of finger, Elbow co... OMIM:208150
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Polyhydramnios, Redundant neck skin, Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:617360
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic... ORPHA:904
Primary Myelofibrosis
Portal hypertension, Petechiae, Pallor, Ecchymosis, Purpura ORPHA:824
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Flexion contracture, Dilation of Virchow-Robin spaces, Atrial septal defect OMIM:619720
Pallister-Killian Syndrome
Aortic valve stenosis, Small scrotum, Supernumerary nipple, Cryptorchidism, Congenital diaphragma... OMIM:601803
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Arboleda-Tham Syndrome
Secundum atrial septal defect, Lower limb hypertonia, Ventricular septal defect, Patent ductus ar... OMIM:616268
Distal Deletion 12Q
Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Pa... ORPHA:96149
Codas Syndrome
Atrioventricular canal defect, Cryptorchidism, Ventricular septal defect, Atrial septal defect, P... OMIM:600373
Bardet-Biedl Syndrome 20
Micropenis, Male hypogonadism, Atrial septal defect, Bilateral cryptorchidism OMIM:619471
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Flexion contracture, Ventricular septal defect ORPHA:79243
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Abnormal heart morphology, Te... ORPHA:1465
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve, Foot joint contracture OMIM:619641
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Distal Deletion 19P
Tricuspid valve prolapse, Pulmonary valve atresia, Vaginal hernia, Ventricular septal defect ORPHA:96129
Pearson Syndrome
Cardiomyopathy, Abnormal heart morphology, Cardiac conduction abnormality, Corneal stromal edema,... ORPHA:699
Autoinflammatory Disease, Systemic, With Vasculitis
Premature birth, Cardiomegaly, Small vessel vasculitis, Periorbital edema, Hydrops fetalis, Ascen... OMIM:620376
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Recurrent respiratory infections, Congestive heart failure, Hypertrophic car... OMIM:617303
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Vascular dilatation, Ventricular septal defect OMIM:219730
Kleefstra Syndrome 1
Conotruncal defect, Cryptorchidism, Micropenis, Macroglossia, Recurrent respiratory infections, H... OMIM:610253
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Biventricular hypertrophy, Partial atrioventricular canal defect, Pate... OMIM:616462
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Inguinal hernia, Cryptorchidism, Supernumerary nipple OMIM:619243
Oculoauriculovertebral Spectrum With Radial Defects
Atrioventricular canal defect, EMG: myopathic abnormalities ORPHA:2549
Axenfeld-Rieger Syndrome, Type 3
Patent ductus arteriosus, Atrial septal defect OMIM:602482
Alazami Syndrome
Atrial septal defect ORPHA:319671
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young ORPHA:254531
Braddock-Carey Syndrome 1
Camptodactyly, Aortic valve prolapse, Ventricular septal defect OMIM:619980
Ring Chromosome 12 Syndrome
Secundum atrial septal defect, Glandular hypospadias, Breast hypoplasia, Cryptorchidism, Uterine ... ORPHA:1439
Greenberg Dysplasia
Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Neonatal death, Stillbi... OMIM:215140
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Shoulder flexion contracture, Tetralogy of Fallot, Muscular ventricular septal defect, Elbow flex... OMIM:210710
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Tarp Syndrome
Subdural hemorrhage, Tetralogy of Fallot, Oligohydramnios, Neonatal death, Atrial septal defect OMIM:311900
Lethal Kniest-Like Dysplasia
Polyhydramnios, Atrial septal defect, Edema ORPHA:2347
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Congestive heart failure ORPHA:90037
Monosomy 9P
Congenital diaphragmatic hernia, Cryptorchidism, Hernia, Ambiguous genitalia, Hypospadias ORPHA:261112
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Wiedemann-Steiner Syndrome
Contracture of the distal interphalangeal joint of the fingers, Patent ductus arteriosus, Atrial ... OMIM:605130
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Aortic root aneurysm, Camptodactyly of finger, Tetralogy of Fallot, Paten... OMIM:607872
Peters Plus Syndrome
Hypoplastic left heart, Abnormality of the pulmonary artery, Abnormal pulmonary vein morphology, ... ORPHA:709
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Lower limb muscle weakness, Metror... ORPHA:370348
Bardet-Biedl Syndrome
Irregular menstruation, Skeletal muscle atrophy, Aplasia/Hypoplasia of the vagina, Cardiomyopathy... ORPHA:110
Slc35A2-Cdg
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration, Camptodactyly... ORPHA:356961
Fontaine Progeroid Syndrome
Small scrotum, Cryptorchidism, Neonatal death, Bicuspid aortic valve, Hypoplastic labia majora, A... OMIM:612289
Bohring-Opitz Syndrome
Supernumerary nipple, Polyhydramnios, Ventricular septal defect, Hyperechogenic pancreas, Cutis l... OMIM:605039
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Cholelithiasis, Male urethral meatus stenosis, Contracture of the proximal i... ORPHA:464738
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Camptodactyly of finger, Ventricular septal defect, Limb hypertonia, Pol... OMIM:616920
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, Right ventricular failure, T... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, Right ventricular failure, T... ORPHA:100082
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus, Ventricular septal defect ORPHA:2438
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Abnormal mitral valve morphology, Patent foramen ovale, Myo... ORPHA:3310
Shashi-Pena Syndrome
Patent ductus arteriosus, Limb hypertonia, Atrial septal defect, Dilation of Virchow-Robin spaces OMIM:617190
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Atrial septal defect, Torticollis, Patent ductus arteriosus after birth ... ORPHA:251061
Bartsocas-Papas Syndrome
Ambiguous genitalia, Hypoplastic male external genitalia ORPHA:1234
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect OMIM:613884
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Facial palsy, Right ... OMIM:620186
Radio-Tartaglia Syndrome
Precocious puberty, Dry skin, Striae distensae, Ventricular septal defect OMIM:619312
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect ORPHA:1908
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Decreased muscle mass, Decreased response to growth hormone st... OMIM:176270
C Syndrome
Female pseudohermaphroditism, Congenital diaphragmatic hernia, Cryptorchidism, Death in infancy, ... ORPHA:1308
Acquired Idiopathic Sideroblastic Anemia
Pallor, Congestive heart failure ORPHA:75564
Orofaciodigital Syndrome V
Tetralogy of Fallot, Unilateral cryptorchidism, Recurrent respiratory infections, Ventricular sep... OMIM:174300
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Patent foramen ovale, Lower limb hypertonia ORPHA:477993
Sirenomelia
Ambiguous genitalia ORPHA:3169
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Ventricular septal defect, Hypoplasia of ... OMIM:243150
Jacobsen Syndrome
Annular pancreas, Recurrent respiratory infections, Cryptorchidism, Ventricular septal defect, At... OMIM:147791
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Palpebral edema, Atrial septal defect, Camptodactyly, Macroglossia, Patent ductus arteriosus ORPHA:397709
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Nonimmune hydrops fetalis OMIM:617049
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... OMIM:614816
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Contractures of the large joints, Ventricular septa... ORPHA:3078
Pelger-Huet Anomaly
Lower limb hypertonia, Foot dorsiflexor weakness, Ventricular septal defect OMIM:169400
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Triploidy
Hypoplasia of penis, Ambiguous genitalia, Hypospadias, Cryptorchidism ORPHA:3376
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Myxomatous mitral valve degeneration, Coronary artery steno... OMIM:194050
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Recurrent lower respiratory tract infections, Secundum atrial septal defect OMIM:620194
Beta-Ketothiolase Deficiency
Hypotension, Edema, Pallor, Hypertension, Dehydration ORPHA:134
Diphallia
Penoscrotal transposition, Bifid scrotum, Abnormal heart morphology, Ectopic scrotum, Cryptorchid... ORPHA:227
Microcephaly 30, Primary, Autosomal Recessive
Increased nuchal translucency, Secundum atrial septal defect OMIM:620183
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect ORPHA:85194
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Mowat-Wilson Syndrome
Abnormal heart morphology, Ventricular septal defect, Pulmonary artery sling, Pulmonary artery st... OMIM:235730
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Cryptorchidism, Ventricular septal defect ORPHA:261250
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Al Kaissi Syndrome
Atrial septal defect, Torticollis OMIM:617694
Fraser Syndrome 3
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Sonographic non-visualized fetal bladder, St... OMIM:617667
Gaucher Disease
Aortic valve calcification, Cherry red spot of the macula, Abnormal pericardium morphology, Abnor... ORPHA:355
Penile Agenesis
Bilateral lung agenesis, Oligohydramnios, Cryptorchidism, Ventricular septal defect, Ambiguous ge... ORPHA:49
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... OMIM:175050
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty OMIM:615866
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, Abnormal lung lobation, Anomalous origin of left pulmonary... ORPHA:141127
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Abnormal heart morphology, Dilatation of the cereb... ORPHA:97685
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve, Patent ductus arteriosus OMIM:243310
Oculoectodermal Syndrome
Lymphedema, Hypertrophic cardiomyopathy, Supernumerary nipple, Transient ischemic attack, Coarcta... OMIM:600268
Distal Deletion 13Q
Ambiguous genitalia ORPHA:1590
Autosomal Dominant Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia ORPHA:1300
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:29072
Silver-Russell Syndrome
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormal v... ORPHA:813
Cerebellofaciodental Syndrome
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect OMIM:616202
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Pallor, Pulmonary artery stenosis, Pulmonary arterial hypert... ORPHA:667
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Diastasis recti, Hypoplastic ... OMIM:618419
Sepsis In Premature Infants
Hypotension, Pallor, Petechiae, Bradycardia, Tachycardia, Purpura, Edema ORPHA:90051
Lateral Meningocele Syndrome
Decreased muscle mass, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Aortic a... OMIM:130720
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Atrial septal defect OMIM:614749
Bartsocas-Papas Syndrome 1
Flexion contracture, Arthrogryposis multiplex congenita, Patent foramen ovale OMIM:263650
Myhre Syndrome
Abnormal penis morphology, Precocious puberty, Hypogonadism, External genital hypoplasia, Cryptor... ORPHA:2588
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty ORPHA:293181
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Ollier Disease
Precocious puberty ORPHA:296
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Clitoral hypertrophy, Tricuspid regurgitation, Palpebral edema, Mitral regu... OMIM:614866
Limb Body Wall Complex
Abnormal heart morphology, Diastasis recti, Congenital diaphragmatic hernia, Ventricular septal d... ORPHA:2369
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Azoospermia, Pallor ORPHA:300298
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Fanconi Anemia
Arteriovenous malformation, Abnormality of the uterus, Hypertrophic cardiomyopathy, Tetralogy of ... ORPHA:84
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... OMIM:614921
Immunodeficiency 87 And Autoimmunity
Premature rupture of membranes, Dilated cardiomyopathy, Third degree atrioventricular block, Anas... OMIM:619573
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Patent foramen ovale, Ventricular septal defect, Cardiomega... OMIM:619991
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Patent foramen ovale, Distal arthrogryposis, Facial hypotonia, Ebst... ORPHA:506358
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Tuberous Sclerosis 1
Precocious puberty, Dental enamel pits, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Hypo... OMIM:191100
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Hypogonadotropic hypogonadism, Pulmonary va... OMIM:301030
22Q11.2 Deletion Syndrome
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Hypospadias,... ORPHA:567
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Apical muscular ventricular septal defect, Facial palsy, Congenital diaph... OMIM:301022
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension, Recurrent respiratory infections, Secundum atrial septal defect OMIM:619758
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Schinzel-Giedion Syndrome
Recurrent pneumonia, Central hypothyroidism, Annular pancreas, Umbilical hernia, Abnormal heart m... ORPHA:798
Zellweger Syndrome
Clitoral hypertrophy, Hypospadias, Cryptorchidism, Ventricular septal defect ORPHA:912
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Abnormal T-wave, Cryptorchidism, Mitral valve prolapse, Ventricular septa... ORPHA:444072
Pseudoaminopterin Syndrome
Inguinal hernia, Posterolateral diaphragmatic hernia, Cryptorchidism, Patent foramen ovale ORPHA:221120
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular septal defect OMIM:613404
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... OMIM:146255
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Femoral-Facial Syndrome
Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Pat... OMIM:134780
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Hypertrophic cardiomyopathy, Secundum atrial septal defect, Facial diplegia OMIM:619121
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Small hypothenar eminence, Contractures of the large joints, Abnormal heart m... ORPHA:96092
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Aor... ORPHA:261330
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Neu-Laxova Syndrome 1
Joint contracture of the hand, Patent foramen ovale, Ventricular septal defect, Transposition of ... OMIM:256520
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Vascular dilatation OMIM:616307
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Restrictive cardiomyopathy, Abnormal lung lobation, Abnormal heart morphology... ORPHA:369837
Dysbetalipoproteinemia
Tendon xanthomatosis, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, A... ORPHA:412
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Cryptorchidism, Ventricular septal defect OMIM:617798
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Inguinal hernia, Abnormal heart morphology, Umbilical hernia ORPHA:261652
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ankle flexion contracture, Aortic regurgitation, Oligohydramnios, Polyhydr... ORPHA:464311
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Generalized limb muscle atrophy, Chordee, Atrial septal defect, Flexion con... OMIM:618891
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Pallor, Nonimmune hydrops fetalis OMIM:266200
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Pallister-Hall Syndrome
Precocious puberty, Abnormal lung lobation, Decreased response to growth hormone stimulation test... OMIM:146510
Ververi-Brady Syndrome
Transposition of the great arteries, Single umbilical artery OMIM:617982
Sheehan Syndrome
Secondary growth hormone deficiency, Dry skin, Breast hypoplasia, Palpitations, Pallor, Panhypopi... ORPHA:91355
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology ORPHA:1292
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Pallor, Cryptorchidism OMIM:301310
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Macroglossia, Atrial septal defect ORPHA:93947
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth ho... ORPHA:293978
Basilicata-Akhtar Syndrome
Precocious puberty, Camptodactyly OMIM:301032
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Hypertension, Myocardial infarction, Coronary artery stenosis OMIM:615812
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Autosomal Recessive Robinow Syndrome
Hypoplastic female external genitalia, Recurrent respiratory infections, Camptodactyly of finger,... ORPHA:1507
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Recurrent respiratory... ORPHA:79345
Myopathy With Extrapyramidal Signs
Calf muscle hypertrophy, Ventricular septal defect OMIM:615673
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, Septate vagina, Hypoparathyr... ORPHA:2237
Codas Syndrome
Ventricular septal defect ORPHA:1458
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Coarctation of aorta, Hydrops fetalis, Premature birth ORPHA:50945
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Elbow contracture, Knee flexion contracture, Atrial septal defect, Patent ductu... OMIM:618162
X Small Rings
Aortic root aneurysm, Oligohydramnios, Mitral stenosis, Ventricular septal defect, Bicuspid aorti... ORPHA:96201
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Cigarette-paper scars, Uterine rupture, Em... OMIM:130050
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor, Increased circulating ... OMIM:617675
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Pallor, Congestive heart failure ORPHA:90033
Cardiogenic Shock
Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea... ORPHA:97292
Tarp Syndrome
Tetralogy of Fallot, Cryptorchidism, Persistent left superior vena cava, Atrial septal defect, Pu... ORPHA:2886
Peroxisome Biogenesis Disorder 1A (Zellweger)
Clitoral hypertrophy, Cryptorchidism, Redundant neck skin, Ventricular septal defect, Macroglossi... OMIM:214100
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Patent ductus arteriosus after premature birth, Knee flexion co... OMIM:620454
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect OMIM:619135
Myhre Syndrome
Aortic valve stenosis, Skeletal muscle hypertrophy, Cryptorchidism, Ventricular septal defect, Co... OMIM:139210
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Restrictive Dermopathy
Hypospadias, Camptodactyly of finger, Ascending tubular aorta aneurysm, Multiple joint contractur... ORPHA:1662
Chilton-Okur-Chung Neurodevelopmental Syndrome
Epistaxis, Aplasia of the right hemidiaphragm, Patent foramen ovale, Limb hypertonia, Patent duct... OMIM:619841
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Mitral regurgitation, Mitral valv... OMIM:601776
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema, Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contra... OMIM:614653
Microphthalmia, Syndromic 3
Cryptorchidism, Ventricular septal defect, Hypogonadotropic hypogonadism, Anterior pituitary hypo... OMIM:206900
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins, Mitral valve prolapse OMIM:618000
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Anemic pallor, Palpitations, Pedal edema ORPHA:86839
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect OMIM:620242
ERI1-related disease
Abnormal heart morphology, Tricuspid regurgitation, Pulmonary arterial hypertension, Ventricular ... OMIM:608739
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci... ORPHA:90790
Microgastria-Limb Reduction Defect Syndrome
Abnormal lung lobation, Perineal fistula, Congenital muscular torticollis, Truncus arteriosus, At... ORPHA:2538
Hereditary Folate Malabsorption
Recurrent respiratory infections, Skeletal muscle atrophy, Pallor ORPHA:90045
Carney Complex
Euthyroid multinodular goiter, Increased circulating prolactin concentration, Ovarian cyst, Ovari... ORPHA:1359
Lateral Meningocele Syndrome
Cryptorchidism, Ventricular septal defect ORPHA:2789
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Cardiac arrest, Pallor, Dehydration OMIM:246450
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, P... OMIM:137920
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Patent ductus arteriosus, Atrial septal defect, Dextrocardia OMIM:277380
Opitz Gbbb Syndrome
Micropenis, Hypospadias, Cryptorchidism, Ventricular septal defect OMIM:300000
Focal Dermal Hypoplasia
Supernumerary nipple, Umbilical hernia, Diastasis recti, Congenital diaphragmatic hernia, Cryptor... OMIM:305600
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septa... OMIM:620663
Kaufman Oculocerebrofacial Syndrome
Clitoral hypertrophy, Ventricular septal defect, Hypoplastic labia majora, Coarctation of aorta, ... OMIM:244450
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Atrial septal defect, Camptodactyly of finger, Ventricular septal defect ORPHA:251014
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Dilatation of the ventricular cavity, Decreased testicular size, Polyhydramnios, Cryptorchidism, ... ORPHA:459070
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Coffin-Siris Syndrome 12
Tetralogy of Fallot, Heart murmur, Facial palsy, Patent foramen ovale OMIM:619325
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Hypertensive crisis, Pheochromocytoma, Palpitations, Pallor, Hyperten... ORPHA:653
Pontocerebellar Hypoplasia, Type 7
Micropenis, Ambiguous genitalia, Cryptorchidism OMIM:614969
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect OMIM:614424
21Q22.11Q22.12 Microdeletion Syndrome
Camptodactyly, Dry skin, Hypoplastic nipples, Atrial septal defect ORPHA:261323
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Supernumerary nipple, Ventricular septal defect, Micropenis, Vaginal dryness, Hypospadias, Patent... OMIM:106260
Hoxha-Aliu Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Contracture of the proximal inter... OMIM:620662
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Bilateral cryptorchidism, Aspiration pneumonia, Cry... OMIM:602535
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Unilateral breast hypoplasia, Atrial septal defect, Patent duct... OMIM:300968
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cryptorchidism, Ventricular septal defect, Perimembranous ventricular septal defect, Shawl scrotu... OMIM:301040
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism, Ventricular septal defect, Cerebral hemorrhage, Patent ductus... OMIM:616682
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus, Pulmona... OMIM:271520
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Stroke, Carotid artery stenosis, Arteriosclerosis of small cerebral ar... OMIM:600142
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Penile hypospadias, Myopathy, L... OMIM:242840
10Q22.3Q23.3 Microdeletion Syndrome
Atrioventricular canal defect, Tricuspid valve prolapse, Patent ductus arteriosus ORPHA:276413
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven... ORPHA:508498
Carpenter Syndrome 2
Bilateral cryptorchidism, Tricuspid regurgitation, Supernumerary nipple, Situs inversus totalis, ... OMIM:614976
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Tricuspid regurgitation, Palpebral edema, Cryptorchidism, Ventricular se... ORPHA:261337
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Aplasia of the ute... OMIM:274000
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Cryptorchidism ORPHA:96184
3Mc Syndrome 1
Supernumerary nipple, Diastasis recti, Ventricular septal defect, Conjunctival telangiectasia, At... OMIM:257920
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ... ORPHA:228116
Squalene Synthase Deficiency
Elbow flexion contracture, Bicuspid aortic valve, Knee flexion contracture OMIM:618156
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Breast hypoplasia, Oligohydramnios, Multiple joint c... ORPHA:464306
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Clitoral hypertrophy, Hydrocele testis, Increased serum testoster... ORPHA:96181
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis OMIM:224120
Bent Bone Dysplasia Syndrome 2
Micropenis, Arthrogryposis multiplex congenita, Atrial septal defect, Shawl scrotum OMIM:620076
Mosaic Trisomy 20
Dysplastic tricuspid valve, Cryptorchidism, Abnormal mitral valve morphology, Ventricular septal ... ORPHA:1724
Down Syndrome
Secundum atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular se... ORPHA:870
Cone-Rod Dystrophy 8
Pallor, Retinal arteriolar constriction OMIM:605549
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Patent ductus arteriosus, Atrial septal defect, Ectopic anterior pituitary gland, Ventricular sep... OMIM:620558
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, External genital hypoplasia, Cryptorchidism, Ventricular septal defect... ORPHA:251028
Cold Agglutinin Disease
Pallor ORPHA:56425
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Decreased testicular size, Flexion contracture, Hypoplasia of the ovary OMIM:619321
Restrictive Dermopathy 1
Oligohydramnios, Neonatal death, Atrial septal defect, Scaling skin, Stillbirth, Polyhydramnios, ... OMIM:275210
Omodysplasia 1
Pulmonary artery stenosis, Atrial septal defect, Cryptorchidism, Ventricular septal defect OMIM:258315
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Skeletal muscle atrophy, Congestive heart failure, Excessive wrink... OMIM:608779
Combined Oxidative Phosphorylation Deficiency 15
Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson... OMIM:614947
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Caudal Regression Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:3027
Irida Syndrome
Pallor ORPHA:209981
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Mitral regurgitation, Joint contracture of the 5th finger, Cryptorchidism, ... ORPHA:363611
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chylothorax, Skin ulcer, Lymphedema, Dry skin, Pleural effusion, Atrial septal defect, Scaling sk... ORPHA:2526
Witteveen-Kolk Syndrome
Male urethral meatus stenosis, Microphallus, Decreased response to growth hormone stimulation tes... OMIM:613406
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Polyhydramnios, Hydrops fetalis, Edema, Premature birth OMIM:602522
Cohen Syndrome
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect ORPHA:193
Tuberous Sclerosis 2
Precocious puberty, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Hypothyroidism, Adenoma ... OMIM:613254
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Aplasia of the uterus, Abnormal cardiac septum morphology ORPHA:3320
Fanconi Anemia, Complementation Group N
Atrial septal defect, Ventricular septal defect OMIM:610832
Tangier Disease
Coronary artery stenosis, Facial diplegia, Left ventricular hypertrophy, Carotid artery stenosis,... ORPHA:31150
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Abnormal heart morphology, Increased nuchal translucency, Cryptorchidism, V... ORPHA:453504
Pallister-Hall Syndrome
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... ORPHA:672
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Abnormal heart morphology, Increased nuchal translucency, Cryptorchidism, V... ORPHA:352665
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Melena ORPHA:98870
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti... ORPHA:51636
Larsen Syndrome
Aortic aneurysm, Atrial septal defect, Cryptorchidism, Ventricular septal defect OMIM:150250
Marden-Walker Syndrome
Abnormal penis morphology, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystro... ORPHA:2461
Doors Syndrome
Aspiration pneumonia, Adrenal hyperplasia, Ambiguous genitalia, Double outlet right ventricle, Po... ORPHA:79500
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Smith-Lemli-Opitz Syndrome
Precocious puberty, Hypospadias, Small scrotum, Bifid scrotum, Abnormal lung lobation, Hypertroph... OMIM:270400
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Supernumerary nipple, Decreased response to growth hormone stimulation test, Recurrent sinusitis,... OMIM:213980
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Ventricular septal defect, Atrial septal defect, Small thenar eminence, Va... OMIM:607323
Distal Deletion 10Q
Patent ductus arteriosus, Facial diplegia, Atrial septal defect, Scapular winging ORPHA:96148
Renpenning Syndrome 1
Joint contracture of the hand, Tetralogy of Fallot, Decreased testicular size, Situs inversus tot... OMIM:309500
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, Premature adrenarche, Decreased muscle mass, Decreased response to growth hor... ORPHA:96182
Iniencephaly
Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia, Omphalocele ORPHA:63259
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dry skin, Flexion contracture, Ventricular septal defect OMIM:619306
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb hypertonia, Atrial septal defect ORPHA:457351
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Abn... ORPHA:322
Ramos-Arroyo Syndrome
Patent ductus arteriosus, Xerostomia, Atrial septal defect ORPHA:1051
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitali... ORPHA:847
Chromosome 16P13.3 Duplication Syndrome
Tetralogy of Fallot, Facial hypotonia, Cryptorchidism, Ventricular septal defect, Atrial septal d... OMIM:613458
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Polyhydramnios, Cryptorchidism, Knee ... OMIM:606170
Trichothiodystrophy
Cardiomyopathy, Gonadal dysgenesis, Dry skin, Cryptorchidism, Multiple joint contractures, Ventri... ORPHA:33364
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect OMIM:614207
Den Hoed-De Boer-Voisin Syndrome
Dry skin, Recurrent lower respiratory tract infections, Oligohydramnios, Ventricular septal defect OMIM:619229
Tay-Sachs Disease
Precocious puberty, Skeletal muscle atrophy, Lower limb muscle weakness, Aspiration pneumonia, Hi... ORPHA:845
Niemann-Pick Disease Type C
Fetal ascites, Ascites, Foam cells, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops... ORPHA:646
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Mucopolysaccharidosis Type 2
Contractures of the large joints, Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve... ORPHA:580
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Clitoral hypertrophy, Ambiguous genitalia ORPHA:543470
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Hydrops fetalis ORPHA:3261
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pallor, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Ventricu... OMIM:178110
Phelan-Mcdermid Syndrome
Lymphedema, Palpebral edema, Patent ductus arteriosus, Ventricular septal defect OMIM:606232
Incontinentia Pigmenti
Erythema, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Pallor, Hypoplastic nipples, R... OMIM:308300
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Oligohydramnios, Polyhydramnios, Ventricular septal defect, Atrial... OMIM:300373
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope, Pallor ORPHA:98849
Peters-Plus Syndrome
Diastasis recti, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Pulmo... OMIM:261540
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula, Ebstein anomaly of the tricuspid valve OMIM:608980
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Abnormal ... ORPHA:217085
Microform Holoprosencephaly
Hypoplasia of penis, Ambiguous genitalia ORPHA:280200
Retinitis Pigmentosa 75
Pallor OMIM:617023
Feingold Syndrome 1
Interrupted aortic arch, Annular pancreas, Ventricular septal defect, Polyhydramnios, Tricuspid s... OMIM:164280
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor, Recurrent upper and lower respiratory tract infections ORPHA:331206
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Interphalangeal joint contracture of finger, Hypertrophic cardio... ORPHA:96334
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Dehydration OMIM:557000
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Prominent scalp veins, Dysplastic pulmonary valve, Limb hypertonia, Cong... ORPHA:3455
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Abnormal heart morphology, Decreased response to gro... ORPHA:268261
Helsmoortel-Van Der Aa Syndrome
Abnormal heart morphology, Decreased response to growth hormone stimulation test, Mitral regurgit... OMIM:615873
Chime Syndrome
Erythema, Skin ulcer, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresia, Tr... ORPHA:3474
Hajdu-Cheney Syndrome
Aortic valve stenosis, Skin ulcer, Dry skin, Mitral stenosis, Ventricular septal defect, Recurren... ORPHA:955
Turnpenny-Fry Syndrome
Aortic regurgitation, Polyhydramnios, Carotid artery tortuosity, Mitral valve prolapse, Tricuspid... OMIM:618371
Myelofibrosis
Purpura, Pallor OMIM:254450
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Abnormal ... ORPHA:217093
Imerslund-Gräsbeck Syndrome
Tachycardia, Pallor ORPHA:35858
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Bifid scrotum, Cryptorchidism, Knee flexion contracture,... OMIM:609945
Alström Syndrome
Testicular fibrosis, Recurrent pneumonia, Dilated cardiomyopathy, Precocious puberty in females, ... ORPHA:64
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Oligohydram... ORPHA:2729
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Pelvis-Shoulder Dysplasia
Ambiguous genitalia ORPHA:2839
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Delayed puberty ORPHA:819
Phace Syndrome
Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo... ORPHA:42775
Robinow Syndrome, Autosomal Recessive 2
Camptodactyly, Bicuspid aortic valve OMIM:618529
Digeorge Syndrome
Recurrent pneumonia, Cholelithiasis, Parathyroid hypoplasia, Atelectasis, Umbilical hernia, Tetra... OMIM:188400
Neuroocular Syndrome 1
Scapular winging, Patent foramen ovale OMIM:619539
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Weakness of facial musculature, Ventricular septal defect, Mul... OMIM:619418
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor, Edema ORPHA:329971
Campomelic Dysplasia
Male pseudohermaphroditism, Ambiguous genitalia ORPHA:140
Combined Immunodeficiency-Enteropathy Spectrum
Congenital pulmonary airway malformation, Ventricular septal defect, Hypoplasia of the thymus, Ab... ORPHA:436252
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect, Patent duc... OMIM:613355
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Bicuspid aortic valve, Macroglossia OMIM:614501
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypospadias, Recurrent upper respiratory tract infections, Hydromyelia, Dry skin, Oligohydramnios... OMIM:308205
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Arthrogryposis multiplex congenita, Atrial septal defect, Cryptorchidism, Dilation of Virchow-Rob... OMIM:619512
Hunter-Macdonald Syndrome
Aortic regurgitation, Joint contracture of the hand, Mitral regurgitation, Mitral valve prolapse,... OMIM:611962
Thauvin-Robinet-Faivre Syndrome
Mitral valve prolapse, Ventricular septal defect, Varicose veins, Macroglossia, Pedal edema OMIM:617107
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Pulmonary a... OMIM:216340
9P13 Microdeletion Syndrome
Precocious puberty, External genital hypoplasia, Umbilical hernia ORPHA:324313
Neu-Laxova Syndrome
Hypogonadism, External genital hypoplasia, Ambiguous genitalia ORPHA:2671
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Splenopancreatic fusion, Hypoplastic labia minora, Hypoplastic labia majora, Hypop... OMIM:269150
Phakomatosis Pigmentokeratotica
Precocious puberty, Pheochromocytoma, Cryptorchidism, Hyperhidrosis, Rhabdomyosarcoma ORPHA:2874
Catel-Manzke Syndrome
Cryptorchidism, Ventricular septal defect, Overriding aorta, Coarctation of aorta, Dextrocardia, ... OMIM:616145
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia involving the shoulder musculature, Supernumerary nipple, Diastasis recti, Abn... ORPHA:1521
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Ventricular... OMIM:619575
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tetralogy of Fallot, Abnormal heart morphology, Abnormal pulmonary valve m... ORPHA:261537
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Kabuki Syndrome 1
Anoperineal fistula, Cryptorchidism, Ventricular septal defect, Premature thelarche, Coarctation ... OMIM:147920
Childhood Absence Epilepsy
Pallor ORPHA:64280
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Intellectual Developmental Disorder, X-Linked 112
Abnormal heart morphology, Bicuspid aortic valve, Right aortic arch OMIM:301111
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val... OMIM:612474
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hyphema, Abnormal heart morphology, Tetralogy of Fallot, Abnormal pulmonar... ORPHA:261552
Phocomelia, Schinzel Type
Hydrops fetalis ORPHA:2879
Distal Deletion 3P
Atrioventricular canal defect ORPHA:1620
Townes-Brocks Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Tetralogy of Fallot, Abnorm... ORPHA:857
Marfan Syndrome
Aortic regurgitation, Mitral annular calcification, Aortic root aneurysm, Aortic dissection, Decr... OMIM:154700
Johanson-Blizzard Syndrome
Generalized edema, Clitoral hypertrophy, Dilated cardiomyopathy, Anasarca, Ascites, Septate vagin... OMIM:243800
Koolen-De Vries Syndrome
Bicuspid aortic valve, Abnormal cardiac septum morphology ORPHA:96169
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Unilateral lung agenesis, At... OMIM:617140
Orofaciodigital Syndrome Xiv
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Micropenis, Patent ductus arteri... OMIM:615948
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Cryptorchidism, Ventricular sept... ORPHA:2308
Mowat-Wilson Syndrome
Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Pulmonary artery sling, Bi... ORPHA:2152
Congenital Disorder Of Glycosylation, Type Iim
Oligohydramnios, Vesicovaginal fistula, Hypertension, Atrial septal defect OMIM:300896
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect OMIM:620072
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Ventricular septal defect, Distal arthrogryposis, Hypoplastic nipples, Polyhydram... OMIM:618268
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Omphalocele ORPHA:2736
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Apert Syndrome
Vaginal atresia, Overriding aorta, Cryptorchidism, Ventricular septal defect OMIM:101200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Pallor OMIM:194380
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Desmosterolosis
Ambiguous genitalia ORPHA:35107
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Tetralogy of Fallot, Mesocardia, Cryptorchidism, Persistent left ... ORPHA:2044
Cerebrocostomandibular Syndrome
Elbow flexion contracture, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Paten... OMIM:117650
Floating-Harbor Syndrome
Varicocele, Glandular hypospadias, Mesocardia, Cryptorchidism, Persistent left superior vena cava... OMIM:136140
Letterer-Siwe Disease
Pallor OMIM:246400
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Mitral valve prolapse, Carotid artery stenosis, V... ORPHA:536532
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Limb hypertonia, Ventricular septal defect OMIM:609460
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Ventricular sep... OMIM:118450
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Hypospadias, Cryptorchidism, Ventricular septal defect OMIM:102500
Pancreatic And Cerebellar Agenesis
Flexion contracture, Secundum atrial septal defect, Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Atrioventricular canal defect, Coarctation of aorta, Polyhydramnios, Patent ductus arteriosus OMIM:617088
Familial Thrombocytosis
Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hypertension, Syncope, Periphera... ORPHA:71493
Cornelia De Lange Syndrome 6
Atrioventricular canal defect, Pulmonary artery atresia, Ventricular septal defect OMIM:620568
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Ambiguous genitalia, Hypospadias, Cryptorchidism ORPHA:2166
Bainbridge-Ropers Syndrome
Precocious puberty, Supernumerary nipple, Cryptorchidism, Death in infancy, Contracture of the pr... OMIM:615485
Teebi-Shaltout Syndrome
Aortic valve stenosis, Camptodactyly, Ventricular septal defect OMIM:272950
Leigh Syndrome
Skeletal muscle atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Multiple joint co... ORPHA:506
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Ambiguous genitalia OMIM:613091
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Arterial dissection, Aortic dissection, Lymphedema, Abnormality of the ov... ORPHA:99413
Mosaic Monosomy X
Hypoplastic left heart, Arterial dissection, Aortic dissection, Lymphedema, Abnormality of the ov... ORPHA:99228
Monosomy X
Hypoplastic left heart, Arterial dissection, Aortic dissection, Lymphedema, Abnormality of the ov... ORPHA:99226
Turner Syndrome
Hypoplastic left heart, Arterial dissection, Aortic dissection, Lymphedema, Abnormality of the ov... ORPHA:881
Aregenerative Anemia
Pallor ORPHA:101096
Oculodentodigital Dysplasia
Arrhythmia, Joint contracture of the 5th finger, Atrial septal defect OMIM:164200
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Imperforate hymen, Hematocolpos, Cryptorchidism, Ventricular septal defect, Chordee, Atrial septa... OMIM:619522
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Imperforate hymen, Axillary apocrine gland hypoplasia... OMIM:181450
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Skeletal muscle atrophy, Abnormal cerebral vas... ORPHA:79474
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Enlarged polycystic ov... ORPHA:91
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Progressive flexion contractures, Atrial septal defect ORPHA:522077
Early Infantile Epileptic Encephalopathy
Precocious puberty, Micropenis, Ventricular septal defect ORPHA:1934
Elliptocytosis 1
Pallor OMIM:611804
Roberts-Sc Phocomelia Syndrome
Ankle flexion contracture, Clitoral hypertrophy, Long penis, Elbow flexion contracture, Enlarged ... OMIM:268300
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Tolchin-Le Caignec Syndrome
Precocious puberty, Cardiac rhabdomyoma, Diastasis recti, Umbilical hernia OMIM:618971
Townes-Brocks Syndrome 1
Bifid scrotum, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Atrial septal defe... OMIM:107480
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Subdural hemorrhage, Arterial rupture, Myopathy, Bicuspid aortic valve, ... ORPHA:536545
Vater/Vacterl Association
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Hypospadias,... OMIM:192350
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Coarctation of aorta, Unilateral facial palsy, Torticollis, Patent... OMIM:619480
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Fle... OMIM:271640
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Redundant skin, Atrial septal defect OMIM:250220
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Cryptorchidism OMIM:616300
Sotos Syndrome
Ankle flexion contracture, Small cell lung carcinoma, Abnormal heart morphology, Cryptorchidism, ... ORPHA:821
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Menkes Disease
Gastrointestinal hemorrhage, Arterial stenosis, Venous insufficiency, Aplasia/Hypoplasia of the a... ORPHA:565
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty ORPHA:163681
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal right ventricle morphology, Mitral valve prolapse, Ventricular septal defect, Varicose v... ORPHA:500095
Hepatoerythropoietic Porphyria
Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis ORPHA:95159
Neuroblastoma
Anemic pallor, Hypertension ORPHA:635
Orofaciodigital Syndrome Type 14
Bilateral cryptorchidism, Patent ductus arteriosus, Epispadias, Ventricular septal defect ORPHA:434179
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty OMIM:163200
Alexander Disease
Precocious puberty, Hypothyroidism, Hyperhidrosis, Facial palsy, Diabetes mellitus ORPHA:58
Wolf-Hirschhorn Syndrome
Precocious puberty, Decreased muscle mass, Cryptorchidism, Ventricular septal defect, Aplasia of ... OMIM:194190
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Facial hypotonia, Aplasia of the uterus, Inguinal hernia, Aplasia of the vagina ORPHA:457284
Gaisböck Syndrome
Elevated diastolic blood pressure, Coronary artery atherosclerosis, Stroke, Angina pectoris, Peri... ORPHA:90041
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Bicuspid aortic valve OMIM:176690
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Multiple Mitochondrial Dysfunctions Syndrome 7
Partial atrioventricular canal defect OMIM:620423
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Type II diabetes mellitus, Hypospadias, Enamel hypoplasia OMIM:210720
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Supernumerary nipple, Ventricular septal defect ORPHA:1071
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal hypertrophy, Oligohydramnios, Ventricular septal defect OMIM:608670
Ablepharon Macrostomia Syndrome
Abnormal female external genitalia morphology, Hypoplasia of penis, Ambiguous genitalia ORPHA:920
Cutis Marmorata Telangiectatica Congenita
Arterial stenosis, Telangiectasia of the skin, Arteriovenous malformation, Patent ductus arteriosus ORPHA:1556
Congenital Erythropoietic Porphyria
Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis ORPHA:79277
Fraser Syndrome 2
Ambiguous genitalia OMIM:617666
Ring Chromosome 13 Syndrome
Bifid scrotum, Ambiguous genitalia, Urogenital sinus anomaly, Micropenis, Hypospadias ORPHA:96176
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Bicuspid aortic valve, Mitral regurgitation OMIM:613563
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal heart morphology, Emphysema, Transient ischemic attack, Ischemic stroke, Absent gallblad... ORPHA:500150
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bilateral superior vena cava, Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, ... OMIM:220111
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Bifid scrotum, Congestive heart failure, Dilatation of the cerebral artery,... OMIM:619475
Cerebrocostomandibular Syndrome
Ventricular septal defect ORPHA:1393
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Pal... OMIM:233450
Aicardi Syndrome
Precocious puberty, Lipoma, Recurrent pneumonia, Hiatus hernia OMIM:304050
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Long penis, Secundum atrial septal defect, Recurrent respiratory infections, Premature... OMIM:264090
Desmosterolosis
Ambiguous genitalia, male, Ambiguous genitalia, female OMIM:602398
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Dentinogenesis imperfecta, Type I diabetes mellitus OMIM:619269
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Proboscis Lateralis
External genital hypoplasia, Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Periph... OMIM:259900
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Ambiguou... ORPHA:2052
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Chordee, Secundum atrial septal defect, Patent ductus arteriosus, Phimosis OMIM:620455
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Cryptorchidism, Atrial septal defect, Stillbirth, Dilatation of the sinus of V... OMIM:304120
Orofaciodigital Syndrome Type 2
Atrioventricular canal defect, Central retinal vessel vascular tortuosity ORPHA:2751
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Recurrent respiratory infections, Reduced subcutaneous adipose tissue, Limb h... OMIM:619950
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Umbilical hernia OMIM:301066
Cousin Syndrome
Ambiguous genitalia, male, Ambiguous genitalia, female OMIM:260660
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Loeys-Dietz Syndrome
Patent ductus arteriosus, Atypical scarring of skin, Uterine rupture, Camptodactyly of finger ORPHA:60030
Aicardi Syndrome
Precocious puberty, Multiple lipomas, Hiatus hernia, Delayed puberty ORPHA:50
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Pineal cyst, Right aortic arch, Ventricular septal defect ORPHA:513456
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Bile duct proliferation, Ventricular septal defect OMIM:619525
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum, Recurrent pneumonia, Recurrent bronchitis, Ventricular septal defect OMIM:620330
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cardiomyopathy, Hypoplastic nipples, Atrial septal defect, Cyst of the ductus choledochus, Patent... ORPHA:480880
Lathosterolosis
Ambiguous genitalia, male OMIM:607330
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Ablepharon-Macrostomia Syndrome
Micropenis, Hypoplastic labia majora, Ambiguous genitalia OMIM:200110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Pallor OMIM:253280
Sitosterolemia 1
Carotid artery stenosis, Coronary artery atherosclerosis OMIM:210250
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Tibial Hemimelia
Ambiguous genitalia, Hypospadias, Cryptorchidism ORPHA:93322
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Secundum atrial septal defect, Vascular tortuosity, Dry skin, Multiple joint... ORPHA:99646
Neurofibromatosis Type 1
Precocious puberty, Pheochromocytoma, Cryptorchidism, Multiple lipomas, Delayed puberty, Carcinoi... ORPHA:636
Meckel Syndrome, Type 1
Abnormality of the uterus, Ambiguous genitalia, female, External genital hypoplasia, Cryptorchidi... OMIM:249000
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Elbow flexion contracture, Cryptorchidism, Aplasia of the uterus, Anteriorly displ... OMIM:276820
Trichorhinophalangeal Syndrome, Type Ii
Bicuspid aortic valve, Myocardial infarction, Cerebral arteriovenous malformation, Scapular wingi... OMIM:150230
Norrie Disease
Uterine rupture, Cryptorchidism, Delayed puberty, Erectile dysfunction, Diabetes mellitus ORPHA:649
Sponastrime Dysplasia
Precocious puberty, Recurrent pneumonia, Hypothyroidism, Hypospadias ORPHA:93357
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Tetralogy of Fallot, Right aortic arch, Ventricular septal defe... OMIM:164210
Familial Atrial Fibrillation
Atrial fibrillation, Syncope, Palpitations, Myocardial infarction ORPHA:334

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gata4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gata4.

No publications found that use IMPC mice or data for Gata4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gata4tm281649(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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