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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, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia OMIM:616067
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Idiopathic Isolated Micropenis
Ambiguous genitalia, Micropenis, Hypospadias ORPHA:95707
46,Xx Sex Reversal 3
Sex reversal OMIM:300833
46,Xy Sex Reversal 2
Sex reversal OMIM:300018
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... OMIM:400045
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size ORPHA:98797
Isochromosomy Yq
Decreased testicular size, Gonadal tissue inappropriate for external genitalia or chromosomal sex... ORPHA:98798
46,Xy Sex Reversal 5
Sex reversal OMIM:613080
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Scimitar Syndrome
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, ... ORPHA:185
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic left atri... OMIM:615524
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis ORPHA:295
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,... OMIM:619433
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... OMIM:615542
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Beemer Lethal Malformation Syndrome
Ambiguous genitalia OMIM:209970
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Neonatal death, Atrial septal def... OMIM:601186
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial septal defect,... DECIPHER:39
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal ORPHA:85112
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Congenital Heart Block
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... ORPHA:60041
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Male pseudohermaphroditis... OMIM:400044
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Serkal Syndrome
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni... ORPHA:139466
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
46,Xy Sex Reversal 6
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... OMIM:613762
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Perineal hypospadias, Ambiguou... ORPHA:753
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Congenital Myopathy 11
Atrial septal defect, Weakness of facial musculature, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, Elevated circulating... OMIM:618086
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... OMIM:620236
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardi... OMIM:618815
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Abnormal morphology of female internal genitalia, Pulmonary hypoplasia, Congenital d... ORPHA:2141
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... ORPHA:3405
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Right aortic arch, Transposition of the great arteries, G... OMIM:231060
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia OMIM:613571
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Hypopl... OMIM:614841
Transaldolase Deficiency
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Atrial s... ORPHA:101028
Meacham Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormal lung lobation, Conotruncal defect,... ORPHA:3097
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Tetralogy of Fallot, ... ORPHA:1166
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... OMIM:612422
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete... ORPHA:1329
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... ORPHA:261529
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Abno... ORPHA:1041
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... ORPHA:2414
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... OMIM:306955
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Flexion contracture, Cardiomyopathy, Abnormality of the amniotic fluid... OMIM:608540
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... OMIM:601927
Congenital Gerbode Defect
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... ORPHA:99095
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Decreased circulating luteinizing hor... OMIM:614897
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoospermia, Elevated c... OMIM:301077
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... ORPHA:95430
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Decreased fetal movement, Portal hypertension, Edema, Polyhydramnios, Hy... OMIM:232500
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Spermatogenic Failure 15
Non-obstructive azoospermia, Abnormal circulating testosterone concentration, Spermatogenesis mat... OMIM:616950
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis OMIM:264600
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension OMIM:619003
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion OMIM:619462
Pituicytoma
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased response to ... ORPHA:251623
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... OMIM:616867
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Leydig Cell Hypoplasia
Abnormal internal genitalia, Decreased serum testosterone concentration, Hypospadias, Abnormal ex... ORPHA:755
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia ORPHA:171719
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Abnormality of the diaphragm,... OMIM:601163
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... OMIM:614473
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Pulmonary art... OMIM:611812
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Increased circul... ORPHA:168563
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Pulmonary embolism, Venous ... ORPHA:90308
Meckel Syndrome 14
Tricuspid regurgitation, Increased nuchal translucency, Pneumothorax, Oligohydramnios, Mitral reg... OMIM:619879
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d... OMIM:270100
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Meacham Syndrome
Bicuspid aortic valve, Blind vagina, Death in childhood, Atrial septal defect, Diaphragmatic even... OMIM:608978
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Joint contracture of the han... OMIM:179613
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone concentration, Az... OMIM:108420
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic... OMIM:619424
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... OMIM:609008
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... ORPHA:45452
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:613630
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Oligohydramnios ORPHA:163596
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Atr... OMIM:615355
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... OMIM:615156
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Bicornuate uterus, Abnor... ORPHA:2143
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Abnorm... OMIM:263210
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal OMIM:613743
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... ORPHA:88630
Fetal Minoxidil Syndrome
Cryptorchidism, Ventricular septal defect ORPHA:1918
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Hypogonadotropic hyp... ORPHA:52901
Tonne-Kalscheuer Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Pulmonar... OMIM:300978
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditism, Hypogonadotropic hypogonadism ORPHA:752
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Infantile Sialic Acid Storage Disease
Premature birth, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Ascites OMIM:269920
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:261102
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Spermatogenic Failure 77
Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulating testosterone co... OMIM:620103
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Adams-Oliver Syndrome 5
Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval... OMIM:616028
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Parachute mitral valve,... OMIM:618316
Neuraminidase Deficiency
Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Facial edema, Hydrops fetalis, Car... OMIM:256550
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... ORPHA:2847
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormal external genitalia, Ventricular septal defect, Polyhydramnios ORPHA:3469
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... OMIM:615009
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a... OMIM:616866
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosu... ORPHA:1120
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery fro... ORPHA:2326
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... OMIM:252011
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Seckel Syndrome 9
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Congenital dia... OMIM:616777
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave... ORPHA:90064
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Pagod Syndrome
Omphalocele, Death in infancy, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormal ... ORPHA:991
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Mulibrey Nanism
Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Pericardial constri... OMIM:253250
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ... ORPHA:3426
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Mitral valve prolapse, Mitral regurgitation, Camptodactyly, Patent foramen ovale OMIM:615539
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Pulmonary sequestration, Atrial... OMIM:618330
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Bardet-Biedl Syndrome 19
Ventricular septal defect, External genital hypoplasia, Partial atrioventricular canal defect, Pa... OMIM:615996
Meckel Syndrome, Type 9
Ambiguous genitalia OMIM:614209
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement... ORPHA:57777
Down Syndrome
Thickened nuchal skin fold, Prenatal double bubble sign, Ventricular septal defect, Complete atri... OMIM:190685
Mmep Syndrome
Cryptorchidism, Ventricular septal defect ORPHA:3434
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... ORPHA:980
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios OMIM:615731
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Hypotension, Atrial septal def... OMIM:615668
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Mitr... OMIM:620244
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Polycystic ovaries... ORPHA:284180
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... OMIM:126320
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:500159
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulat... ORPHA:453533
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy OMIM:264270
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Trunc... ORPHA:401935
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Decreased fetal movement, Facial palsy, Polyhydramnios, Centrally nuclea... OMIM:255320
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs a... ORPHA:244
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... ORPHA:2470
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Fetal ak... ORPHA:367
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio... OMIM:215045
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Pulmonary hypoplasia, Congenital diaphragmatic he... ORPHA:250999
Emanuel Syndrome
Recurrent respiratory infections, Inguinal hernia, Torticollis, Truncus arteriosus, Ventricular s... OMIM:609029
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter, Cryptorchidism OMIM:616816
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ... OMIM:618914
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Acrocallosal Syndrome
Cryptorchidism, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia ORPHA:36
Cardiac-Urogenital Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Atrial septal defect, Scimitar anomaly, Micropeni... OMIM:618280
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Pedal edema, Ri... ORPHA:422
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, Myocarditis... ORPHA:3099
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis OMIM:618839
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,... OMIM:250790
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorch... ORPHA:2311
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super... OMIM:618494
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial... OMIM:606003
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot ORPHA:3303
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Emanuel Syndrome
Recurrent respiratory infections, Inguinal hernia, Multiple joint contractures, Truncus arteriosu... ORPHA:96170
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Flexion contracture, Abnormal cardiac septum morphology, Stillbirth, Pulmonary hypoplas... OMIM:308050
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy, Pallor OMIM:613561
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... ORPHA:2970
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Vacterl/Vater Association
Bifid scrotum, Omphalocele, Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Cr... ORPHA:887
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... ORPHA:292
Spermatogenic Failure 14
Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concentration, Elevated ... OMIM:615842
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Abnormal mitral valve morpholog... ORPHA:1192
Combined Oxidative Phosphorylation Deficiency 57
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Fetal p... OMIM:620167
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Fetal Gaucher Disease
Decreased fetal movement, Fetal akinesia sequence, Flexion contracture, Hydrops fetalis, Intracra... ORPHA:85212
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Atrioventricular block, Mi... ORPHA:371428
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... ORPHA:99050
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Epistaxis, Nonimmune hydrops fetalis, Abnormality of the muscul... ORPHA:137667
8P23.1 Microdeletion Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Pulmonary artery stenosis, Patent d... ORPHA:251071
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung lobation, Aplasia... ORPHA:2063
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Diffuse Neonatal Hemangiomatosis
Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites ORPHA:2123
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Genitopalatocardiac Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Male pseudohermaphroditism, Abnorma... ORPHA:2075
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Omphalocele, Congenital diaphragmatic hernia, Abnormality of the endocrine system,... ORPHA:95706
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular... ORPHA:3287
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... OMIM:616897
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Hydrops fetalis, Myopathy, Abno... OMIM:609015
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... OMIM:615415
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... OMIM:616564
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Pne... ORPHA:99104
1Q21.1 Microduplication Syndrome
Arthrogryposis multiplex congenita, Tetralogy of Fallot, Hypospadias, Cryptorchidism ORPHA:250994
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... OMIM:600001
Developmental Delay, Language Impairment, And Ocular Abnormalities
Contracture of the proximal interphalangeal joint of the 5th finger, Pulmonic stenosis, Facial te... OMIM:620141
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:300887
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, A... OMIM:618870
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Beta-Thalassemia
Hypogonadotropic hypogonadism, Skin ulcer, Pallor, Cholelithiasis, Hypertrophic cardiomyopathy ORPHA:848
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Cryptorch... OMIM:610198
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... OMIM:613870
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopathy, Stroke, Atrial... OMIM:249270
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Kagami-Ogata Syndrome
Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Flexion contracture, Pulmon... OMIM:608149
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... ORPHA:435638
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... ORPHA:363528
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Pulmonic stenosis OMIM:618282
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Ventricular septal defect, Hypospadias, Polyhydramnios, Cryptorchidism, Micr... OMIM:301056
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Pentalogy Of Cantrell
Omphalocele, Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Ventricular septal... ORPHA:1335
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth OMIM:600972
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Congenital diaphragmatic hern... ORPHA:94065
Megalencephaly
Atrial septal defect, Long penis, Macroorchidism ORPHA:2477
Fetal Trimethadione Syndrome
Ambiguous genitalia, Ventricular septal defect, Hypospadias, Transposition of the great arteries,... ORPHA:1913
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Lim... OMIM:620327
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:7
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... OMIM:616276
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Hypospadias, Congenital diaphragmatic hernia, Patent ductus arterios... OMIM:313850
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Ambiguous genitalia, male, Decreased serum estradiol, Decreased circula... ORPHA:90796
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Diabetes mellitus, Hypogonadotropic hypogonadism, Por... ORPHA:465508
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Trisomy 1Q
Omphalocele, Small scrotum, Ventricular septal defect, Camptodactyly of finger, Congenital diaphr... ORPHA:261344
Sialidosis Type 2
Skeletal muscle atrophy, Flexion contracture, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ... ORPHA:163956
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... OMIM:208000
13Q12.3 Microdeletion Syndrome
Recurrent respiratory infections, Camptodactyly, Congenital diaphragmatic hernia, Cryptorchidism ORPHA:412035
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Hydrops fetali... OMIM:230500
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias ORPHA:1919
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve OMIM:617744
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Cryptorchidism, Polyhydramnios ORPHA:466926
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... OMIM:265380
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... OMIM:611174
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Aortic valve stenosis, Flexion contracture, Pulmonic stenosis ORPHA:75496
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Hypospadias, Repeated pneumothoraces, Congenital diaphragmatic hernia,... OMIM:617602
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... OMIM:616843
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... ORPHA:26793
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos... ORPHA:369891
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism,... OMIM:612530
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Pulmo... ORPHA:99931
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, ... OMIM:617022
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Hypoplastic left heart, Ambiguous... ORPHA:2772
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
American Trypanosomiasis
Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia ORPHA:3386
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Pulmonic stenosis OMIM:615280
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran... ORPHA:90795
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis... OMIM:614886
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration ORPHA:101006
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... OMIM:612582
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Opitz Gbbb Syndrome
Bifid scrotum, Omphalocele, Enlarged ovaries, Inguinal hernia, Hypospadias, Ventricular septal de... ORPHA:2745
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs, Abnormal morphology of female internal genitalia, Omphalocele, C... ORPHA:1834
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Pulmonic stenosis OMIM:617600
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
Adenohypophysitis
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... ORPHA:95512
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Panhypophysitis
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... ORPHA:95513
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Patent foramen ovale OMIM:614868
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Bicornuate uterus, Umbil... OMIM:222448
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hydrops fetalis, Polyhydramnios ORPHA:2204
Craniofrontonasal Dysplasia
Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Shawl scrotum ORPHA:1520
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... ORPHA:2255
Noonan Syndrome 3
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... OMIM:609942
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale OMIM:614961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m... OMIM:253800
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Glucocorticoid Resistance, Generalized
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... OMIM:615962
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... ORPHA:555877
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... ORPHA:363705
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex congenita, Patent foram... OMIM:208085
Renal Tubular Dysgenesis
Tetralogy of Fallot, Premature birth, Polyhydramnios, Oligohydramnios ORPHA:3033
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Ovotes... OMIM:309801
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct... ORPHA:2519
Noonan Syndrome 12
Ventricular septal defect, Decreased response to growth hormone stimulation test, Polyhydramnios,... OMIM:618624
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
Fryns Syndrome
Omphalocele, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal cardiac septu... ORPHA:2059
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Meckel Syndrome
Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditism, True hermaphroditism ORPHA:564
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th f... ORPHA:352490
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu... OMIM:612863
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Patent foramen ovale, Epistaxis ORPHA:293939
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ambiguous genitalia, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus... OMIM:618142
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Shawl scrotum ORPHA:2256
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Polyhydramnios ORPHA:1263
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:168558
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury... OMIM:619825
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis OMIM:212780
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly OMIM:619123
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Male pseudohermaphroditism OMIM:202110
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:289548
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Cryptorchidism, Ventricular septal defect OMIM:613730
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow... OMIM:602782
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ... OMIM:617506
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... OMIM:100300
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... OMIM:616166
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Small hypothen... ORPHA:2232
Abruzzo-Erickson Syndrome
Atrial septal defect, Cryptorchidism, Hypospadias, Coronal hypospadias ORPHA:921
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:609053
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Hypergonadotropic hypogonad... ORPHA:2959
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Uterus didelphys, Bicornuate uterus, Pul... ORPHA:958
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Monosomy 13Q34
Hematochezia, Common atrium, Epistaxis, Pulmonic stenosis ORPHA:96168
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... OMIM:300707
Mosaic Trisomy 1
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:1692
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypoplasia of penis, Tetralogy of Fallot, Hypospadias ORPHA:1381
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Hypothyroidism, Congenital, Nongoitrous, 5
Mitral regurgitation, Patent foramen ovale OMIM:225250
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
German Syndrome
Camptodactyly of finger, Lymphedema, Cryptorchidism, Abnormal cardiac septum morphology, Ambiguou... ORPHA:2077
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Abnormal heart morphology, Macroglossia, Umbilical... OMIM:614608
Trisomy 13
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydrops fetalis ORPHA:3378
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Premature birth, Congestive heart failure, Pa... ORPHA:354
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... ORPHA:69735
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:1488
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Restrictive cardiomyopathy, Knee flexion contracture, Hypertrophi... OMIM:612954
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, ... ORPHA:1926
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi... ORPHA:3071
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Zaki Syndrome
Patent ductus arteriosus, Patent foramen ovale, Congenital diaphragmatic hernia OMIM:619648
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition... OMIM:201000
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Lymphatic Malformation 1
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo... OMIM:153100
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism, ... ORPHA:3306
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia OMIM:617450
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... OMIM:241080
Atelis Syndrome 1
Atrial septal defect, Dry skin, Ventricular septal defect, Bronchiectasis OMIM:620184
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620113
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta OMIM:300867
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis OMIM:615802
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Abnormal jugular vein morphology, Increased... ORPHA:275766
Lowry-Maclean Syndrome
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Atrioven... ORPHA:2409
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Mitral regurgitation, Camptodact... OMIM:301039
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Micropenis, Pin... OMIM:617516
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Hydatidiform Mole
Hyperthyroidism, Miscarriage, Menometrorrhagia, Enlarged uterus ORPHA:99927
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... OMIM:607598
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis OMIM:616977
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Patent foramen ovale OMIM:251290
Proximal 16P11.2 Microduplication Syndrome
Micropenis, Congenital diaphragmatic hernia ORPHA:370079
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Lambert Syndrome
Ventricular septal defect, Hypospadias ORPHA:1296
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Hypospadias ORPHA:276422
Satoyoshi Syndrome
Hypoplasia of the uterus, Skeletal muscle hypertrophy, Amenorrhea OMIM:600705
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Ventricular septal defect, Mitral regurgitation, Aortic ... OMIM:615582
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Multiple joint contractures, Hypospadias, Congenital diaphragmatic hernia, Weakn... OMIM:265000
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Oligomenorrhea OMIM:620393
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Aortic regurgitation, Polyhydramnios, Oligohydramnios OMIM:615476
Sifrim-Hitz-Weiss Syndrome
Ambiguous genitalia, Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Pa... OMIM:617159
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Polyhydramnios, Transposition of the great arteries, Absence of stomach bubble on f... OMIM:314390
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Increased nuchal translucency, Ventricular septal defect, Supernumerary nipple OMIM:617635
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Dextrocardia OMIM:618067
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Bicuspid aortic valve, Hypospadias, Mitral stenosis... ORPHA:1596
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke OMIM:182410
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Crypto... OMIM:614294
Filippi Syndrome
Ambiguous genitalia, Cryptorchidism, Ventricular septal defect OMIM:272440
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Ventricular septal defect OMIM:618504
Grange Syndrome
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... OMIM:602531
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Rectovaginal fistula, Transposition o... ORPHA:1780
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... ORPHA:99776
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Muscular dystrophy, Hydrops fetalis ORPHA:88618
Free Sialic Acid Storage Disease
Ascites, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis ORPHA:834
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios OMIM:263630
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Arrhythmia, Patent foramen ovale OMIM:619184
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Ambiguo... ORPHA:452
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Stiff Skin Syndrome
Elbow flexion contracture, Bicuspid aortic valve, Camptodactyly, Knee flexion contracture OMIM:184900
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Complete atrioventricular canal defect, Tetralogy of Fallot OMIM:617925
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Patent ductus arteriosus, Hydrocele testis, Pulmonary hypoplasia... OMIM:614080
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hypospadias, Left-to-right shunt, Endometriosis, Muscular ventri... ORPHA:363444
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Ventricular septal defect, Abnormal dental enamel morphology, Conge... ORPHA:2092
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Acrocardiofacial Syndrome
Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Hypospa... ORPHA:2008
Thanatophoric Dysplasia Type 2
Redundant skin, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Aplasia/... ORPHA:93274
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Peripheral Cone Dystrophy
Pallor OMIM:609021
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:168593
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... ORPHA:1600
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Gonadal dysgenesis, Pulmonary fibrosis OMIM:611926
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Cryptorchidism, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation OMIM:618343
Watson Syndrome
Pulmonic stenosis OMIM:193520
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Vascular ring, Knee flexion contracture, Mitr... OMIM:603387
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect OMIM:619908
Mitral Valve Prolapse 1
Mitral regurgitation, Mitral valve prolapse OMIM:157700
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Atrial septal ... ORPHA:500533
Thanatophoric Dysplasia
Redundant skin, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Pulmonar... ORPHA:2655
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma... OMIM:610443
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, ... OMIM:619542
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Dextrocardia, Aplasia of the left hemidiaphragm, Hypoplastic... ORPHA:2437
Congenital Myopathy 15
Decreased fetal movement, Tricuspid regurgitation, Polyhydramnios, Fatty replacement of skeletal ... OMIM:620161
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu... OMIM:618223
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Adrenal hypoplasia, Morga... OMIM:613177
Holoprosencephaly 1
Micropenis, Single ventricle OMIM:236100
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm, Adrenal insufficiency OMIM:618238
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Limb hypertonia OMIM:301058
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, Pulmonary a... OMIM:614857
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Hydrops fetalis, Abnormal heart morphology, Single umbilical artery, Increas... ORPHA:1865
Joubert Syndrome 15
Ambiguous genitalia, Micropenis OMIM:614464
Methimazole Embryofetopathy
Ventricular septal defect, Hypospadias, Polyhydramnios, Coarctation of aorta, Abnormal aortic mor... ORPHA:1923
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610759
Recombinant 8 Syndrome
Small scrotum, Ventricular septal defect, Camptodactyly of finger, Redundant skin, Cryptorchidism... ORPHA:96167
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Hydrocele testis, Aortic root aneurysm, Bicornuate uterus, Pulmonary h... OMIM:145420
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension ORPHA:3222
Giant Cell Arteritis
Pericarditis, Epistaxis, Abnormal pleura morphology, Sudden cardiac death, Recurrent pharyngitis,... ORPHA:397
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale OMIM:619179
Familial Glucocorticoid Deficiency
Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Azoospermia, Hypotension, Leyd... ORPHA:361
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Alg8-Cdg
Premature birth, Edema, Hydrops fetalis, Macroglossia, Camptodactyly, Ascites, Oligohydramnios ORPHA:79325
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P... ORPHA:508488
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... OMIM:619745
Optic Atrophy 1
Pallor OMIM:165500
Acitretin/Etretinate Embryopathy
Premature birth, Conotruncal defect, Third degree atrioventricular block, Bradycardia, Atrioventr... ORPHA:40366
Trisomy 18
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:3380
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... OMIM:614609
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Flexion... ORPHA:505248
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu... OMIM:601808
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Hypospadias OMIM:218350
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Precocious puberty OMIM:619356
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Small scrotum, Ventricular septal defect, Congenital diaphragmatic ... OMIM:618454
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Lipodystrophy... ORPHA:528
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morphology,... OMIM:620233
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Lujan-Fryns Syndrome
Atrial septal defect, Macroorchidism, Camptodactyly of finger ORPHA:776
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ... ORPHA:290
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... ORPHA:79329
Pituitary Gigantism
Premature pubarche, Elevated circulating growth hormone concentration, Hyperhidrosis, Increased c... ORPHA:99725
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle, Ascites, Dehydration ORPHA:1667
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Centrally nucleated skel... OMIM:300219
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaphroditism, Peri... OMIM:201810
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Redundant neck skin, Patent ductus arteriosus, Atrial septal de... ORPHA:1842
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Dohle Bodies And Leukemia
Secundum atrial septal defect OMIM:223350
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Autosomal Dominant Omodysplasia
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia ORPHA:93328
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus, Patent foramen ovale OMIM:607143
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Optic Atrophy 8
Mitral regurgitation, Mitral valve prolapse OMIM:616648
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Facial hypotonia, Hypospadias, Decreased scrotal rugation, Abno... ORPHA:261311
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri... OMIM:612541
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Per... OMIM:273395
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... OMIM:121050
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Myopathy, Mitral regurgitati... OMIM:212140
Chops Syndrome
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve... OMIM:616368
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Pul... OMIM:300963
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Ragged-red muscle fibers,... ORPHA:17
Ovarian Fibrothecoma
Ovarian fibroma, Abnormal circulating hormone concentration, Abnormal endometrium morphology, Gon... ORPHA:314478
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Dry skin ORPHA:1035
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Frontometaphyseal Dysplasia 2
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Patent ductus a... OMIM:617137
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... ORPHA:97214
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial septal defect... OMIM:616364
Cornelia De Lange Syndrome 1
Inguinal hernia, Hypospadias, Pneumonia, Ventricular septal defect, Congenital diaphragmatic hern... OMIM:122470
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, Contracture of ... OMIM:618109
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Hypogonadism, Decreased testicular size OMIM:201100
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Pulmona... OMIM:208050
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, Decreased testicular si... OMIM:610644
Toriello-Carey Syndrome
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog... ORPHA:3338
7Q11.23 Microduplication Syndrome
Inguinal hernia, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptor... ORPHA:96121
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... OMIM:616894
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Recurrent pharyngitis, Vasculi... ORPHA:2331
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Hyp... OMIM:244300
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... OMIM:235510
Fibrochondrogenesis 1
Hydrops fetalis, Stillbirth, Camptodactyly, Joint contracture of the hand, Patent foramen ovale OMIM:228520
Adams-Oliver Syndrome 6
Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension OMIM:616589
16P12.1P12.3 Triplication Syndrome
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abn... ORPHA:485405
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular... OMIM:618651
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Absent pulmonar... OMIM:600460
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... ORPHA:70591
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Mit... ORPHA:251066
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Micropenis, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:616546
Oculocerebrocutaneous Syndrome
Cryptorchidism, Congenital diaphragmatic hernia ORPHA:1647
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m... ORPHA:261197
Alg9-Cdg
Thickened nuchal skin fold, Decreased fetal movement, Torticollis, Tricuspid regurgitation, Ventr... ORPHA:79328
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Abnormal heart morpho... OMIM:613390
Gm1 Gangliosidosis Type 1
Hydrops fetalis, Macroglossia, Cardiomyopathy, Abnormal placenta morphology, Cherry red spot of t... ORPHA:79255
Holoprosencephaly
Omphalocele, Hypoplasia of penis, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonar... ORPHA:2162
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Diastasis recti, Flexion contracture, Hydrops fetalis, Macroglos... OMIM:253220
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Camptodactyly of finger, Arterial... ORPHA:284984
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Ogden Syndrome
Torticollis, Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Cutis laxa, Ca... ORPHA:276432
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis, Camptodactyly OMIM:616737
Tsh-Secreting Pituitary Adenoma
Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Pericardial effusion, Decreased fertili... ORPHA:91347
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Ventricular septal defect ORPHA:93267
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... ORPHA:209905
Neurodevelopmental Disorder With Spasticity And Poor Growth
Patent ductus arteriosus, Achilles tendon contracture, Knee flexion contracture, Patent foramen o... OMIM:618076
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... OMIM:619769
Robinow Syndrome
Decreased serum testosterone concentration, Small scrotum, Ventricular septal defect, External ge... ORPHA:97360
Gabriele-De Vries Syndrome
Facial hypotonia, Distal arthrogryposis, Patent foramen ovale, Aortopulmonary collateral arteries OMIM:617557
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Acrorenal-Mandibular Syndrome
Absent nipple, Congenital diaphragmatic hernia, Elbow flexion contracture, Uterus didelphys, Bico... OMIM:200980
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... OMIM:600987
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Cryptorchidism, Small scrotum, Heart murmur ORPHA:2728
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism,... ORPHA:254346
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Small thenar eminence, Pulmonic stenosis, Camptodactyly, Left ventricul... OMIM:619148
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Cryptorchidism, Recurrent pneumonia, Atrial septal... OMIM:619314
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Combined Oxidative Phosphorylation Deficiency 3
Patent ductus arteriosus, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiom... OMIM:610505
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
17Q12 Microduplication Syndrome
Atrial septal defect, Polyhydramnios ORPHA:261272
Distal Triplication 15Q
Abnormal external genitalia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contractu... ORPHA:314588
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect OMIM:617364
Mckusick-Kaufman Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrometrocolpos, Glandular ... ORPHA:2473
Esophageal Atresia
Recurrent respiratory infections, Ventricular septal defect, Abnormal external genitalia, Bronchi... ORPHA:1199
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aort... OMIM:267010
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... ORPHA:2495
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Arterial rupture, Dermal translucency OMIM:619115
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... OMIM:249420
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di... OMIM:613309
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Abnormal heart morphology ORPHA:254525
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical her... OMIM:219100
Atelis Syndrome 2
Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis OMIM:620185
Fanconi Anemia, Complementation Group B
Death in infancy, Ventricular septal defect, Hypergonadotropic hypogonadism, Patent ductus arteri... OMIM:300514
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly OMIM:614846
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Hydrolethalus Syndrome 1
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Stillbirth, Ag... OMIM:236680
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia ORPHA:63260
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Ventricular septal defect, Coarctation of aorta OMIM:620210
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Noonan Syndrome 13
Lymphedema, Cryptorchidism, Mitral valve prolapse, Mitral regurgitation, Atrial septal defect, Dr... OMIM:619087
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura... OMIM:617397
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Macroglossia, Ventricular septal defect, Patent foramen ovale OMIM:613457
Fetal Alcohol Syndrome
Atrial septal defect, Congenital diaphragmatic hernia ORPHA:1915
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Polyhydramnios, Cryptorchidism, Sex reversal, Microphallus, Ambiguous... OMIM:612651
Oligomeganephronia
Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia, Congenital diaph... ORPHA:2260
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Mogs-Cdg
Generalized edema, External genital hypoplasia, Edema, Cardiomegaly, Polyhydramnios, Hydrocele te... ORPHA:79330
Diets-Jongmans Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Cryptor... OMIM:618846
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Facial hypotonia, Polyhydramnios OMIM:611087
Fanconi Anemia, Complementation Group E
Cryptorchidism, Hypergonadotropic hypogonadism, Anemic pallor, Abnormal heart morphology OMIM:600901
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Proximal muscle weakness in lower limbs, Aortic root aneurysm, Flexion ... ORPHA:280633
Sweeney-Cox Syndrome
Patent ductus arteriosus, Patent foramen ovale OMIM:617746
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Abnormal dental enamel morphology, Congenital diaphragmat... ORPHA:2556
Woods Syndrome
Ventricular septal defect, Supernumerary nipple OMIM:615236
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:268249
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Anemic pallor, Cryptorchidism, Abnormal heart m... OMIM:227650
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone... OMIM:610978
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Thanatophoric Dysplasia Type 1
Redundant skin, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Aplasia/... ORPHA:1860
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Mitral valve prolapse, Mitral... OMIM:606631
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Cryptorchidism, Flexion contracture, Ventricular septal defect OMIM:617452
Cerebrofacioarticular Syndrome
Camptodactyly, Pulmonic stenosis, Abnormal heart morphology ORPHA:314679
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Pallor, Palpitations, Positive regitine blocking t... ORPHA:94080
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Recurren... OMIM:617751
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Abnormal denta... ORPHA:818
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty ORPHA:217377
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Supernum... ORPHA:217346
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Achondrogenesis, Type Ii
Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:200610
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Bronch... OMIM:123700
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Embryonal rhabdomyosarcoma, Pulmonic stenosis OMIM:257300
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic labia major... ORPHA:2328
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation, Cerebral berry aneurysm, Mitral valve prolapse OMIM:173900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Congestive heart failure, Renovascular hypertension, Caro... ORPHA:391487
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Bilateral superior vena ... OMIM:618460
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Brittle Cornea Syndrome
Camptodactyly, Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Premature ovarian insufficiency, Ventricular septal defect, Endometriosis OMIM:613680
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis OMIM:263520
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Dry skin, Hydrocele testis, Joint contractu... OMIM:280000
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:607721
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Polyhydramnios, Patent ductus arteriosus, Atrial septal defect,... ORPHA:1790
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Simpson-Golabi-Behmel Syndrome
Omphalocele, Death in infancy, Hypoplasia of penis, Inguinal hernia, Hypospadias, Ventricular sep... ORPHA:373
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Left atrial enlargement, Flexion contracture, Right atrial enlargeme... OMIM:614008
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism, Pallor OMIM:615234
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal art... ORPHA:51608
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Hypospadias, Abnormal heart valve morphology, Congenital diaphr... ORPHA:280
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic aneury... OMIM:620070
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Finger ... OMIM:212112
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, Lymphed... OMIM:235255
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Brachydactyly, Type B1
Micropenis, Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Cardiofaciocutaneous Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... ORPHA:1340
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Per... OMIM:613001
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology ORPHA:254534
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proximal interpha... OMIM:300998
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Recurrent respiratory infections, Pallor, Lymphedema ORPHA:3226
Prolactinoma
Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypotensi... ORPHA:2965
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Cryptorchidism, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Precocious puberty, Pate... ORPHA:2637
Ogden Syndrome
Premature atrial contractions, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventr... OMIM:300855
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hydrops fetalis OMIM:613673
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Syncope, Pallor ORPHA:324575
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect ORPHA:96190
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... OMIM:619705
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contracture, Stroke... OMIM:212065
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab... ORPHA:79282
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Stroke, Bacterial endocardit... ORPHA:1054
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... ORPHA:230851
Fryns Syndrome
Bifid scrotum, Omphalocele, Ectopic pancreatic tissue, Hypospadias, Ventricular septal defect, Cr... OMIM:229850
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteri... ORPHA:77298
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Clitoral hypoplasia,... ORPHA:398069
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Mitral valve prolapse... OMIM:617402
Alg12-Cdg
Muscular ventricular septal defect, Patent ductus arteriosus, Biventricular hypertrophy, Camptoda... ORPHA:79324
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Dry skin OMIM:614576
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Cryptorchidism, Limb joint contracture, Ventricular septal defect ORPHA:505237
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Tetraamelia Syndrome 2
Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins, Bilateral lung agenesis, M... OMIM:618021
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Precocious puberty, Cryptorchi... ORPHA:2322
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Hypospadias, Septate vagina, Cryptorchidism, Patent duct... OMIM:300166
Hemoglobin D Disease
Pallor ORPHA:90039
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Hereditary Spherocytosis
Restrictive cardiomyopathy, Cholelithiasis, Pallor, Skin ulcer ORPHA:822
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent ductus arteriosus, Mitral regurgitation, Patent foramen ovale ORPHA:457395
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Decreased fetal movement, Limb joint contracture, Shoulder fle... OMIM:620369
Aymé-Gripp Syndrome
Pericarditis, Inguinal hernia, Congenital diaphragmatic hernia, Pericardial effusion, Cryptorchid... ORPHA:1272
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Hypoplasia of penis, Cryptorchidism, Conotruncal defect, Coarctation of aor... ORPHA:96147
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis OMIM:166210
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Redundant skin, Bilateral cryptorchidism, Congestive heart failure, Pneu... OMIM:617403
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Lissencephaly, X-Linked, 2
Ambiguous genitalia, Micropenis, Decreased testicular size OMIM:300215
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:115150
Mosaic Trisomy 16
Ventricular septal defect, Hypospadias, Abnormal lung morphology, Patent ductus arteriosus, Abnor... ORPHA:1708
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
White Forelock With Malformations
Atrial septal defect ORPHA:2475
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis, Camptodactyly of finger ORPHA:896
Renal Agenesis
Absent vas deferens, Ventricular septal defect, Aplasia/hypoplasia of the uterus, Hypertension, P... ORPHA:411709
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypoplasia of the musculature, High-output congestive heart failure, Dilated ... ORPHA:231226
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Anemic pallor, Hypergonadotropic hypogonadism, Cryptorchidism, Flexion... OMIM:227645
Campomelic Dysplasia
Hypospadias, Polyhydramnios, Contracture of the distal interphalangeal joint of the fingers, Recu... OMIM:114290
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia OMIM:619909
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Holoprosencephaly 2
Anterior pituitary agenesis, Single ventricle OMIM:157170
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Cryptorchidism, Ao... OMIM:620025
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo... OMIM:620024
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia, Coarctation of aorta OMIM:618929
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
Diamond-Blackfan Anemia 5
Ventricular septal defect, Hypospadias OMIM:612528
19P13.3 Microduplication Syndrome
Precocious puberty, Pulmonary arterial hypertension, Ventricular septal defect, Unilateral crypto... ORPHA:447980
Fanconi Anemia, Complementation Group F
Pneumonia, Polyhydramnios, Decreased response to growth hormone stimulation test, Cryptorchidism,... OMIM:603467
Fumarase Deficiency
Polyhydramnios, Perimembranous ventricular septal defect, Pallor, Ascites, Mitochondrial swelling OMIM:606812
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Hypomimic face OMIM:608572
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale, Arteria lusoria, Heart murmur OMIM:618653
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... ORPHA:572333
Stevenson-Carey Syndrome
Atrial septal defect, Joint contracture of the hand, Left superior vena cava draining to coronary... OMIM:611961
Dystonia 28
Precocious puberty, Torticollis, Hypothyroidism ORPHA:589618
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... OMIM:157800
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Edema, Dilated cardiomyopathy, Dehydration, Pallor, Hypotension ORPHA:20
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Pancreatic lymphangiectasis, Cryp... ORPHA:1655
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Vasculitis, ... ORPHA:33226
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
Steinert Myotonic Dystrophy
Endometrial carcinoma, Decreased serum testosterone concentration, Atrial fibrillation, Prolonged... ORPHA:273
47,Xyy Syndrome
Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoosperm... ORPHA:8
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Neurocardiofaciodigital Syndrome
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus OMIM:619869
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect OMIM:615879
Farber Disease
Skeletal muscle atrophy, CNS foam cells, Flexion contracture, Hydrops fetalis, Joint swelling, Ch... ORPHA:333
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... ORPHA:466791
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Hypospadias, Nonimmune hydrops fetalis, Coarcta... ORPHA:124
Breath-Holding Spells
Pallor OMIM:607578
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic stenosis ORPHA:488632
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Craniofrontonasal Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Shawl scrotum, Umbilical hernia, Un... OMIM:304110
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Camptodactyl... ORPHA:3063
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Short-Rib Thoracic Dysplasia 12
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale OMIM:269860
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abno... ORPHA:536471
Mucopolysaccharidosis Type 7
Arteriovenous malformation, Ascites, Hydrops fetalis, Lymphedema ORPHA:584
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:1237
Charge Syndrome
External genital hypoplasia, Polyhydramnios, Decreased response to growth hormone stimulation tes... OMIM:214800
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Bicornuate ... OMIM:154400
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Alagille Syndrome
Ventricular septal defect, Telangiectasia of the skin, Cryptorchidism, Hypertension, Atrial septa... ORPHA:52
Genitopatellar Syndrome
Hip contracture, Small scrotum, Cryptorchidism, Knee flexion contracture, Pulmonary hypoplasia, A... ORPHA:85201
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli... ORPHA:3260
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... OMIM:618775
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... ORPHA:1425
Hardikar Syndrome
Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an... OMIM:301068
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration OMIM:617808
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:222470
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Ventricular septal defect, Hypospadias, Abnormal heart morphology ORPHA:494344
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadias, Situs inve... ORPHA:289
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Ambiguous genitalia, ... OMIM:617641
Keutel Syndrome
Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Peripher... OMIM:245150
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral ... OMIM:607823
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Heart murmur, Perimembranous ve... OMIM:158170
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Patent ductus ... OMIM:300868
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia, Abnormal hear... ORPHA:468678
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Fetal ascites, Ascending aorta hypoplasia,... OMIM:619503
Galactosialidosis
Conjunctival telangiectasia, Cherry red spot of the macula, Nonimmune hydrops fetalis OMIM:256540
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Ventricular septal defect, Flexion contracture, Ascending tubular aorta aneurysm,... OMIM:309520
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Intracranial ... ORPHA:369929
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphangiectasia, Telangiectasi... OMIM:137940
Short Stature-Micrognathia Syndrome
Small scrotum, Ventricular septal defect, Cryptorchidism, Skeletal muscle hypertrophy, Micropenis... OMIM:617164
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Recurrent pneumonia, Atrial septal defect, Pulmonary arte... OMIM:616449
2Q37 Microdeletion Syndrome
Umbilical hernia, Supernumerary nipple, Congenital diaphragmatic hernia ORPHA:1001
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumoni... OMIM:300472
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... OMIM:620305
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Portal hypertension, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertens... OMIM:620005
Evans Syndrome
Epistaxis, Syncope, Pallor, Petechiae ORPHA:1959
17Q23.1Q23.2 Microdeletion Syndrome
Patent ductus arteriosus, Congenital contracture, Shawl scrotum, Atrial septal defect, Pulmonary ... ORPHA:261279
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Recurrent pneumonia, Ventricular septal defect OMIM:616651
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Polyhydramnios, Pulmonary hypoplasia, Ambiguous g... OMIM:615503
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Filippi Syndrome
Cryptorchidism, Ventricular septal defect, Supernumerary nipple ORPHA:3255
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353281
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Patent ductus arteri... ORPHA:96191
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Prader-Willi Syndrome Due To Translocation
Patent ductus arteriosus, Patent foramen ovale, Abnormal heart morphology ORPHA:177907
Beta-Thalassemia Major
Hypoparathyroidism, Hypoplasia of the musculature, High-output congestive heart failure, Dilated ... ORPHA:231214
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... ORPHA:70
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect, Precocious puberty, Cryptorchidism, Labial hypoplasia, Micropenis OMIM:620073
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis OMIM:618265
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... ORPHA:3342
Meckel Syndrome 12
Hypoplasia of the uterus, Arthrogryposis multiplex congenita, Vaginal atresia OMIM:616258
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Inguinal hernia, Hypospadias, Ventricular septal defect, Congen... OMIM:135900
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect, Clitoral hypertrophy, Fused labia minora OMIM:608688
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Ventricular septal defect, Polycystic ovaries ORPHA:1770
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Carney Complex
Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystadenoma, Precocious puberty, O... ORPHA:1359
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... OMIM:614736
Hennekam Syndrome
Camptodactyly of finger, Lymphedema, Pericardial effusion, Pulmonary lymphangiectasia, Hydrops fe... ORPHA:2136
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Congenital diaphragmatic hernia OMIM:615919
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atria... ORPHA:2257
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Interrupted aortic arch, Unilatera... OMIM:192430
Fg Syndrome Type 1
Hypospadias, Progressive flexion contractures, Facial wrinkling, Cryptorchidism, Coarctation of a... ORPHA:93932
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Facial hypotonia OMIM:614526
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Meckel Syndrome, Type 4
Atrial septal defect, Bile duct proliferation, Ventricular septal defect OMIM:611134
Meckel Syndrome, Type 8
Ambiguous genitalia OMIM:613885
Temple Syndrome
Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Flexion contracture, De... OMIM:616222
Achondrogenesis, Type Ia
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... OMIM:200600
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, O... OMIM:246200
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h... OMIM:605676
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor... ORPHA:444077
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur, Cryptorchidism ORPHA:166035
Temple Syndrome
Precocious puberty, Cryptorchidism, Type II diabetes mellitus, Decreased response to growth hormo... ORPHA:254516
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... ORPHA:562
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus OMIM:619143
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Anemic pallor, Cryptorchidism, Patent ductus arteriosus, Annular ... OMIM:227646
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T... ORPHA:2131
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Tricuspid regurgitation, Flexion contracture, Mitral regurgitation, L... OMIM:619127
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Costello Syndrome
Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ... OMIM:218040
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... ORPHA:363958
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Increased nuchal translucency, ... ORPHA:453499
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Pulmonary hypoplasia, Polyhydramnios, Situs inversus totalis OMIM:202650
Cardiospondylocarpofacial Syndrome
Mitral regurgitation, Mitral valve prolapse ORPHA:3238
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Mitral regurgitation, Camptodactyly... ORPHA:2848
Joubert Syndrome 18
Ventricular septal defect, Camptodactyly OMIM:614815
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Adrenocortical cytomegaly, Diastasis recti, Congenital diaphragmati... ORPHA:116
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect OMIM:613792
Degcags Syndrome
Ambiguous genitalia, Tachycardia, Ventricular septal defect, Pneumonia, Hypospadias, Polyhydramni... OMIM:619488
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Edema, Respiratory tract infection, Myocarditis, Hypertension, Pleural empyema, Pallor... ORPHA:544482
Perlman Syndrome
Cryptorchidism, Hypoplasia of the abdominal wall musculature, Pancreatic islet-cell hyperplasia, ... OMIM:267000
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
Silver-Russell Syndrome 3
Ambiguous genitalia, Unilateral cryptorchidism, Penoscrotal hypospadias OMIM:616489
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Low-output ... ORPHA:565612
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of... ORPHA:3047
Chromosome 10Q26 Deletion Syndrome
Scapular winging, Small scrotum, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, ... OMIM:609625
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... OMIM:163950
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Edema OMIM:618348
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353277
Poland Syndrome
Diabetes mellitus, Hypospadias, Dextrocardia, Congenital diaphragmatic hernia, Cryptorchidism, Ap... ORPHA:2911
Cranioectodermal Dysplasia 2
Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Hypertension, Atrial septal defect, Le... OMIM:613610
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterio... ORPHA:163979
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis, Camptodactyly ORPHA:459061
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Enlarged ovaries, Ventricular septa... ORPHA:769
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f... ORPHA:3472
Kleefstra Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Ventricular septal defect, Bicuspid aortic... ORPHA:261494
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Inguinal hernia, Supernumerary nipple OMIM:619243
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia, Increased circulating androgen conce... ORPHA:228346
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension ORPHA:401923
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:220500
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Ellis-Van Creveld Syndrome
Hypospadias, Epispadias, Cryptorchidism, Atrial septal defect, Common atrium OMIM:225500
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the g... ORPHA:96097
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Shawl scrotum, Atrial septal... ORPHA:1519
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Pallor, Hypopituitarism OMIM:600462
Simpson-Golabi-Behmel Syndrome, Type 1
Inguinal hernia, Hypospadias, Ventricular septal defect, Facial hypotonia, Congenital diaphragmat... OMIM:312870
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Polyhydramnios, Patent ductus arteriosus, Joint contracture, Atrial septal defect, Recurrent lowe... OMIM:618005
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... OMIM:614114
De Barsy Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Ventricular septal defect, Cryptorchid... ORPHA:2962
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale OMIM:616975
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Mitral valve prolapse, ... OMIM:180849
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent ductus arteriosus, Patent foramen ovale OMIM:300990
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic fibrosis, Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus... OMIM:208540
Beta-Thalassemia Intermedia
Hypoparathyroidism, High-output congestive heart failure, Skin ulcer, Pulmonary arterial hyperten... ORPHA:231222
16P13.11 Microdeletion Syndrome
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Camptodactyly of finger ORPHA:261236
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
C Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cutis laxa, Clitoral hypertr... OMIM:211750
Sotos Syndrome
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Patent ductus arte... OMIM:117550
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Mel... ORPHA:100080
Gaucher Disease
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... ORPHA:355
Schneckenbecken Dysplasia
Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic k... OMIM:262190
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive heart failure, Adrenal pheochromoc... ORPHA:276621
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Ambiguous genitalia, Vaginal neoplasm, Rhabdomyosarcoma, Polyhydramnios, In... ORPHA:1052
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Cry... ORPHA:199
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Patent ductus arteriosus, Abnormal heart morphology, Hematochezia, M... ORPHA:79076
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Sm... OMIM:105650
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Flexion cont... OMIM:619383
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus ORPHA:280195
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arterio... OMIM:300712
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
Distal Deletion 12Q
Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Pa... ORPHA:96149
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Hypospadias, Supernumerary nipple, Patent ductus arteriosus, Micropeni... OMIM:106260
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... OMIM:619534
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple ORPHA:46627
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Hypospadias, Wrist flexion contracture, Peripheral pulmonary artery stenosis ORPHA:436003
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Camptodactyly of finger, Supernumerary nipple, Secundum atrial ... OMIM:619951
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am... OMIM:616268
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Decreased fetal movement, Premature birth, Elbow contract... OMIM:208150
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defect OMIM:617360
Pearson Syndrome
Cardiac conduction abnormality, Hydrops fetalis, Dehydration, Abnormal heart morphology, Corneal ... ORPHA:699
Syndromic Diarrhea
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:84064
Ulnar-Mammary Syndrome
Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Aplasia ... ORPHA:3138
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities, Atrioventricular canal defect ORPHA:2549
Bardet-Biedl Syndrome 20
Atrial septal defect, Bilateral cryptorchidism, Male hypogonadism, Micropenis OMIM:619471
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... ORPHA:2876
Monosomy 9P
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Hernia, Ambiguous genitalia ORPHA:261112
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... OMIM:301044
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Flexion contracture, Dilation of Virchow-Robin spaces, Bicuspid aortic valve OMIM:619720
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... ORPHA:293978
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Coffin-Siris Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Recurrent upper... ORPHA:1465
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular... OMIM:614816
Retinitis Pigmentosa 51
Pallor OMIM:613464
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Ventricular septal defect, Vascular dilatation OMIM:219730
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Torticollis, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Neopla... ORPHA:370348
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... ORPHA:904
C Syndrome
Omphalocele, Death in infancy, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasi... ORPHA:1308
Prader-Willi Syndrome
Recurrent respiratory infections, Decreased muscle mass, Small scrotum, Hypogonadotropic hypogona... OMIM:176270
Codas Syndrome
Ventricular septal defect, Polyhydramnios, Cryptorchidism, Rectovaginal fistula, Atrial septal de... OMIM:600373
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... OMIM:210710
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Ventricular septal defect, Recurrent aspiration pneumonia ORPHA:79243
Dravet Syndrome
Pallor ORPHA:33069
Spondyloocular Syndrome
Unilateral cryptorchidism, Lymphedema, Mitral valve prolapse, Atrial septal defect, Dysplastic ao... OMIM:605822
Kleefstra Syndrome 1
Recurrent respiratory infections, Hypospadias, Cryptorchidism, Conotruncal defect, Macroglossia, ... OMIM:610253
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... OMIM:194050
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypogonadism, Pallor ORPHA:300298
Tetrasomy 9P
Pericarditis, Juxtaductal coarctation of the aorta, Myositis, Dextrocardia, Raynaud phenomenon, A... ORPHA:3310
Alazami Syndrome
Atrial septal defect ORPHA:319671
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Patent ductus arteriosus... OMIM:617303
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Flexion contracture, Hypoplastic labia majora, Camptodactyly, Atrial septal defect, Vaginal atres... OMIM:207410
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young ORPHA:254531
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613884
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Camptodactyly OMIM:619980
Tarp Syndrome
Subdural hemorrhage, Neonatal death, Atrial septal defect, Tetralogy of Fallot, Oligohydramnios OMIM:311900
Lethal Kniest-Like Dysplasia
Atrial septal defect, Polyhydramnios, Edema ORPHA:2347
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Ring Chromosome 12 Syndrome
Secundum atrial septal defect, Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Breast h... ORPHA:1439
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Facial palsy, Atrial septal defect, Pulmonary arterial hypertension, Patent foramen ovale, Right ... OMIM:620186
Wiedemann-Steiner Syndrome
Atrial septal defect, Contracture of the distal interphalangeal joint of the fingers, Patent duct... OMIM:605130
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste... OMIM:235730
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Interrupted aortic arch, Limb... OMIM:616920
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Lower limb hypertonia, Patent foramen ovale ORPHA:477993
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... ORPHA:495875
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal internal carotid artery morphology, Renova... ORPHA:97685
Primary Myelofibrosis
Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Shashi-Pena Syndrome
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Limb hypertonia OMIM:617190
Fontaine Progeroid Syndrome
Small scrotum, Bicuspid aortic valve, Redundant skin, Hypoplasia of the abdominal wall musculatur... OMIM:612289
Slc35A2-Cdg
Limb joint contracture, Camptodactyly of finger, Precocious puberty, Elevated circulating thyroid... ORPHA:356961
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Diphallia
Bifid scrotum, Rectoperineal fistula, Hypospadias, Epispadias, Cryptorchidism, Penoscrotal transp... ORPHA:227
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia ORPHA:1908
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Palpebral edema, Patent ductus arteriosus, Macroglossia, Camptodactyly, Atrial septal defect ORPHA:397709
Bohring-Opitz Syndrome
Ventricular septal defect, Polyhydramnios, Supernumerary nipple, Flexion contracture, Cutis laxa,... OMIM:605039
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Pallor ORPHA:90037
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... OMIM:608800
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... ORPHA:100082
Radio-Tartaglia Syndrome
Precocious puberty, Dry skin, Ventricular septal defect, Striae distensae OMIM:619312
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Flexion... OMIM:147791
Hand-Foot-Genital Syndrome
Ventricular septal defect, Hypospadias, Miscarriage, Bicornuate uterus, Abnormality of the uterus ORPHA:2438
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Pallister-Killian Syndrome
Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly of 2nd-5th fin... OMIM:601803
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Recurrent upper respiratory tract infections, Ventricular septa... ORPHA:3078
Pelger-Huet Anomaly
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness OMIM:169400
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Orofaciodigital Syndrome V
Unilateral cryptorchidism, Recurrent respiratory infections, Tetralogy of Fallot, Ventricular sep... OMIM:174300
Sheehan Syndrome
Dyspareunia, Orthostatic hypotension, Decreased female libido, Reduced circulating prolactin conc... ORPHA:91355
Bartsocas-Papas Syndrome
Ambiguous genitalia, Hypoplastic male external genitalia ORPHA:1234
Al Kaissi Syndrome
Atrial septal defect, Torticollis OMIM:617694
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Pulmonary arterial hypertension, Mal... ORPHA:464738
Sirenomelia
Ambiguous genitalia ORPHA:3169
7Q31 Microdeletion Syndrome
Recurrent respiratory infections, Torticollis, Skeletal muscle atrophy, Patent ductus arteriosus ... ORPHA:251061
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor ORPHA:75564
X Small Rings
Premature ovarian insufficiency, Ventricular septal defect, Bicuspid aortic valve, Primary amenor... ORPHA:96201
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis OMIM:614749
Penile Agenesis
Ambiguous genitalia, Ventricular septal defect, Cryptorchidism, Bilateral lung agenesis, Pulmonar... ORPHA:49
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Stillbirth, Ascites, Oligohy... OMIM:617667
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... OMIM:175050
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect ORPHA:85194
Silver-Russell Syndrome
Abnormality of male external genitalia, Decreased muscle mass, Hypospadias, Precocious puberty, C... ORPHA:813
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Ventricular septal defect, Decreased re... OMIM:146510
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Flexion contracture, Patent foramen ovale OMIM:263650
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Ventricular septal defect, Polyhydramnios, Hematochezia, Hypopl... OMIM:243150
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Abnormal pulmonary valve morphology, Pulmonary artery stenosis,... ORPHA:667
Fanconi Anemia
Hypogonadism, Hypospadias, Abnormal preputium morphology, Cryptorchidism, Patent ductus arteriosu... ORPHA:84
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Increased nuchal translucency OMIM:620183
Beta-Ketothiolase Deficiency
Edema, Dehydration, Hypertension, Pallor, Hypotension ORPHA:134
Congenital Tracheal Stenosis
Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Abnormal lu... ORPHA:141127
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Triploidy
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:3376
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... ORPHA:79345
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Recurrent lower respiratory tract infections OMIM:620194
Cerebellofaciodental Syndrome
Cryptorchidism, Ventricular septal defect, Mitral valve prolapse OMIM:616202
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Diastasis recti, Elevated circulating luteinizing hormone level, Hypoplastic labia m... OMIM:618419
Sepsis In Premature Infants
Tachycardia, Edema, Bradycardia, Pallor, Hypotension, Petechiae, Purpura ORPHA:90051
Oculoectodermal Syndrome
Transient ischemic attack, Supernumerary nipple, Lymphedema, Patent ductus arteriosus, Coarctatio... OMIM:600268
Distal Deletion 13Q
Ambiguous genitalia ORPHA:1590
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Facial hypotonia, Ebstein anomaly of the tricuspid valve, Distal ar... ORPHA:506358
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Dextrocardia, Precocious puberty, Cryptorchidism, Abnormal heart morph... ORPHA:96092
Lateral Meningocele Syndrome
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent d... OMIM:130720
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... OMIM:619991
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Hypospadias, Palpebral ... OMIM:614866
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty ORPHA:293181
Limb Body Wall Complex
Ventral hernia, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abno... ORPHA:2369
Ollier Disease
Precocious puberty ORPHA:296
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive heart failure, Adrenal pheochromoc... ORPHA:29072
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Rhabdomyolysis, Dilat... OMIM:614921
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Congenital diaphragmatic hernia, Emphysema, Pulmonary artery aneurysm, Pulmonary... OMIM:614437
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Small scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia ORPHA:1300
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Uro... OMIM:618820
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Premature rupture of membranes, ... OMIM:619573
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Camptod... OMIM:256520
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Zellweger Syndrome
Cryptorchidism, Hypospadias, Ventricular septal defect, Clitoral hypertrophy ORPHA:912
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Cryptorchidism, Inguinal hernia, Patent foramen ovale ORPHA:221120
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus... ORPHA:567
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... OMIM:142900
Myhre Syndrome
Abnormal penis morphology, Inguinal hernia, Hypospadias, External genital hypoplasia, Femoral her... ORPHA:2588
Mullegama-Klein-Martinez Syndrome
Facial palsy, Hypoplastic left heart, Apical muscular ventricular septal defect, Congenital diaph... OMIM:301022
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Coronary artery stenosis, Stroke, Myocardial infarction OMIM:615812
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Micropenis, Ventricular septal defect OMIM:617798
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Patent ductus arteriosus, Abnormal lung lobation, Abnorma... ORPHA:369837
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology ORPHA:1292
Myopathy, Mitochondrial, And Ataxia
Primary amenorrhea, Distal amyotrophy, Pallor, Increased variability in muscle fiber diameter, In... OMIM:617675
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Hypospadias, Ankle flexion contracture, Polyhydr... ORPHA:464311
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly ... ORPHA:261330
Schinzel-Giedion Syndrome
Inguinal hernia, Streak ovary, Hypospadias, Recurrent pneumonia, Annular pancreas, Abnormal heart... ORPHA:798
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Tuberous Sclerosis 1
Dental enamel pits, Precocious puberty, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Aden... OMIM:191100
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Recurrent respiratory infections, Hypertension OMIM:619758
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Ascendi... ORPHA:444072
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Hypospadias, Flexion contracture, Generalized limb muscle atrophy, Aortic root aneurysm, Chordee,... OMIM:618891
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Dysbetalipoproteinemia
Accelerated atherosclerosis, Angina pectoris, Type IV atherosclerotic lesion, Tendon xanthomatosi... ORPHA:412
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect OMIM:619135
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy OMIM:619121
Ververi-Brady Syndrome
Single umbilical artery, Transposition of the great arteries OMIM:617982
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Patent ductus arterio... OMIM:214100
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia ORPHA:93947
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Chilton-Okur-Chung Neurodevelopmental Syndrome
Aplasia of the right hemidiaphragm, Epistaxis, Patent ductus arteriosus, Patent foramen ovale, Li... OMIM:619841
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmon... ORPHA:1507
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios, Coarctation of aorta ORPHA:50945
Codas Syndrome
Ventricular septal defect ORPHA:1458
Myopathy With Extrapyramidal Signs
Calf muscle hypertrophy, Ventricular septal defect OMIM:615673
Basilicata-Akhtar Syndrome
Precocious puberty, Camptodactyly OMIM:301032
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Abnormal heart morpholog... ORPHA:2237
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Umbilical hernia, Inguinal hernia, Abnormal heart morphology ORPHA:261652
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Vascular dilatation OMIM:616307
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Pallor ORPHA:90033
Tarp Syndrome
Cryptorchidism, Pulmonary hypoplasia, Atrial septal defect, Tetralogy of Fallot, Persistent left ... ORPHA:2886
Microphthalmia, Syndromic 3
Hypospadias, Ventricular septal defect, Hypogonadotropic hypogonadism, Anterior pituitary hypopla... OMIM:206900
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, ... OMIM:130050
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Pallor, Nonimmune hydrops fetalis OMIM:266200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, Su... OMIM:305600
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow contracture, Patent ductus arteriosus, Knee flexion contracture, Atrial septal defect, Annu... OMIM:618162
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Cryptorchidism, Maturity-onset diabetes of the young ORPHA:96184
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Peters Plus Syndrome
Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ... ORPHA:709
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Patent ductus arteriosus, Dextrocardia OMIM:277380
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Genera... OMIM:139210
Restrictive Dermopathy
Multiple joint contractures, Hypospadias, Dextrocardia, Camptodactyly of finger, Polyhydramnios, ... ORPHA:1662
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins, Mitral valve prolapse OMIM:618000
Coffin-Siris Syndrome 12
Tetralogy of Fallot, Patent foramen ovale, Facial palsy, Heart murmur OMIM:619325
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... ORPHA:2298
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Erythema, Flexion contracture, Retinal hemorrhage, Hypert... OMIM:614653
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect OMIM:620242
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Hypospadias, Polyhydramnios, Cryptorchidism, Pulmonary artery stenosis... ORPHA:459070
Opitz Gbbb Syndrome
Cryptorchidism, Micropenis, Ventricular septal defect, Hypospadias OMIM:300000
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Refractory Anemia With Excess Blasts
Palpitations, Anemic pallor, Retinal hemorrhage, Pedal edema ORPHA:86839
Lateral Meningocele Syndrome
Cryptorchidism, Ventricular septal defect ORPHA:2789
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Coarctation of aorta, Hypoplastic labia majora, Atrial septal defect, ... OMIM:244450
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Precocious puberty, Cryptorchidism, Patent ductus... OMIM:616682
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect OMIM:614424
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect OMIM:615272
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Cryptorchidism, Pneumothorax, Mit... OMIM:601776
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Decreased fertility OMIM:234050
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi... OMIM:137920
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pallor, Skeletal muscle atrophy ORPHA:90045
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Camptodactyly of finger ORPHA:251014
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Hypospadias, Cryptorchidism, Macroglossia, Perimembranous ventricular ... OMIM:301040
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Facial palsy, Truncus arteriosus, Ventricular septal... ORPHA:508498
10Q22.3Q23.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Facial diplegia, Left ventricular hypertrop... ORPHA:31150
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus, Unilateral brea... OMIM:300968
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Supernumerary nipple, Pa... OMIM:257920
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormal lung lobation, Perineal fistula, Rectovaginal fistula, ... ORPHA:2538
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Dry skin, Hypoplastic nipples, Camptodactyly ORPHA:261323
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Edema of the ... OMIM:274000
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Supernumerary nipple, Situs inversus totalis, Bilateral cr... OMIM:614976
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis OMIM:224120
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect, External genital hypoplasia, Cryptorchidism, Micropenis, Decreased tes... ORPHA:251028
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of small cer... OMIM:600142
Pontocerebellar Hypoplasia, Type 7
Ambiguous genitalia, Cryptorchidism, Micropenis OMIM:614969
Vici Syndrome
Recurrent respiratory infections, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopath... OMIM:242840
Marshall-Smith Syndrome
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Re... OMIM:602535
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Hypospadias, Anteri... ORPHA:464306
Mosaic Trisomy 20
Abnormal mitral valve morphology, Cryptorchidism, Dysplastic tricuspid valve, Ventricular septal ... ORPHA:1724
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyroid hyperplas... ORPHA:653
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Micropenis... ORPHA:64
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Absent external genitalia, Aplasia of the vagina, Pulmonary hypoplasia, Aplasia ... OMIM:271520
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Secundum atrial septal defect, Congestive heart failure, Excessive wrink... OMIM:608779
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Omodysplasia 1
Atrial septal defect, Cryptorchidism, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Edema, Lymphedema, Skin ulcer, Chylothorax, Scaling skin, Atrial septal defect, Pleural effusion,... ORPHA:2526
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Arthrogryposis multiplex congenita, Micropenis, Shawl scrotum OMIM:620076
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Restrictive Dermopathy 1
Limb joint contracture, Hypospadias, Polyhydramnios, Patent ductus arteriosus, Flexion contractur... OMIM:275210
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Palpebral edema, Cry... ORPHA:261337
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis OMIM:602522
Irida Syndrome
Pallor ORPHA:209981
Cold Agglutinin Disease
Pallor ORPHA:56425
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Hypoplasia of the ovary, Flexion contracture, Decreased testicular size OMIM:619321
Cohen Syndrome
Cryptorchidism, Ventricular septal defect, Mitral valve prolapse ORPHA:193
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Cryptorchidism, Increased... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Cryptorchidism, Increased... ORPHA:352665
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Abnormal lung lobation, Gonadotropin deficiency, Atrial septal... ORPHA:672
Duane-Radial Ray Syndrome
Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep... OMIM:607323
Hughes-Stovin Syndrome
Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... ORPHA:228116
Witteveen-Kolk Syndrome
Inguinal hernia, Unilateral cryptorchidism, Hypospadias, Congenital diaphragmatic hernia, Phimosi... OMIM:613406
Distal Deletion 10Q
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Facial diplegia ORPHA:96148
Thrombocytopenia-Absent Radius Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Aplasia of the uterus ORPHA:3320
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Ambiguous genitalia, Small scrotum, Ventricular septal defect, Hypospadias, Septat... OMIM:270400
Caudal Regression Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:3027
Larsen Syndrome
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Aortic aneurysm OMIM:150250
Ctcf-Related Neurodevelopmental Disorder
Phimosis, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Hypoplastic labia major... ORPHA:363611
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Tuberous Sclerosis 2
Precocious puberty, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Adenoma sebaceum, Hypoth... OMIM:613254
Marden-Walker Syndrome
Abnormal penis morphology, Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camp... ORPHA:2461
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect, Dry skin OMIM:619306
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Hypospadias, Decreased response to growth hormone stimulation test, Precoc... ORPHA:96182
Renpenning Syndrome 1
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Tetralogy of Fallot, Ca... OMIM:309500
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Limb hypertonia ORPHA:457351
Congenital Dyserythropoietic Anemia Type Iii
Melena, Pallor ORPHA:98870
Iniencephaly
Omphalocele, Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia ORPHA:63259
Ramos-Arroyo Syndrome
Atrial septal defect, Patent ductus arteriosus, Xerostomia ORPHA:1051
Doors Syndrome
Adrenal hyperplasia, Polyhydramnios, Aspiration pneumonia, Ambiguous genitalia, Double outlet rig... ORPHA:79500
Genitopatellar Syndrome
Hip contracture, Small scrotum, Ventricular septal defect, Enlarged labia minora, Polyhydramnios,... OMIM:606170
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect OMIM:614207
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Facial hypotonia, Cryptorchidism, Small thenar eminence, Camptodactyly... OMIM:613458
Niemann-Pick Disease Type C
Fetal ascites, Bone-marrow foam cells, Aplasia/Hypoplasia of the abdominal wall musculature, Hydr... ORPHA:646
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Decreased response to growth hormone stimulation test, Polyhydramnios, Supernumerary nipple, Pate... OMIM:213980
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema OMIM:606232
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Recurrent bronchopulmonary infections, Cr... ORPHA:33364
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Den Hoed-De Boer-Voisin Syndrome
Recurrent lower respiratory tract infections, Dry skin, Ventricular septal defect, Oligohydramnios OMIM:619229
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Hydrops fetalis ORPHA:3261
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Facial palsy, Polyhydramnios, Patent ductus arteriosus, Camptodactyly,... OMIM:300373
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... OMIM:178110
Exstrophy-Epispadias Complex
Bifid scrotum, Omphalocele, Inguinal hernia, Bifid uterus, Epispadias, Cryptorchidism, Cystocele,... ORPHA:322
Mucopolysaccharidosis Type 2
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:580
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Ambiguous genitalia, Clitoral hypertrophy ORPHA:543470
Myelofibrosis
Pallor, Purpura OMIM:254450
Peters-Plus Syndrome
Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Pulmonic stenosis, Atrial s... OMIM:261540
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditism, Abnormality... ORPHA:847
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Pallor, Hypotension ORPHA:98849
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Ebstein anomaly of the tricuspid valve, Rectovaginal fistula OMIM:608980
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Dehydration OMIM:557000
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Ventricular septal defect, Interphalangeal joint contracture of finger, Dias... ORPHA:96334
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypospadias, Perianal erythema, Cryptorchidism, Recurrent upper respiratory tract infections, Hyp... OMIM:308205
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl... ORPHA:217085
Incontinentia Pigmenti
Supernumerary nipple, Erythema, Retinal hemorrhage, Breast aplasia, Hypoplastic nipples, Pallor, ... OMIM:308300
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Interrup... OMIM:164280
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Camptodactyly of finger, Congenital malformation of the left heart, Skelet... ORPHA:3455
Tay-Sachs Disease
Skeletal muscle atrophy, Hip flexor weakness, Quadriceps muscle atrophy, Precocious puberty, Aspi... ORPHA:845
Retinitis Pigmentosa 75
Pallor OMIM:617023
Microform Holoprosencephaly
Ambiguous genitalia, Hypoplasia of penis ORPHA:280200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent upper and lower respiratory tract infections, Pallor ORPHA:331206
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Hypospadias... ORPHA:268261
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl... ORPHA:217093
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Torticollis, Hypospadias, Cryptorchidism, Knee flexion contracture, Clitoral hypop... OMIM:609945
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Facial palsy, Decreased response to growth hormone stimulation ... OMIM:615873
Neuroocular Syndrome
Scapular winging, Patent foramen ovale OMIM:619539
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Ventricular septal defect, Mitral stenosis, Hypospadias, Patent... ORPHA:955
Imerslund-Gräsbeck Syndrome
Tachycardia, Pallor ORPHA:35858
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Turnpenny-Fry Syndrome
Aortic regurgitation, Recurrent respiratory infections, Torticollis, Facial hypotonia, Polyhydram... OMIM:618371
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor, Edema ORPHA:329971
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Delayed puberty ORPHA:819
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... OMIM:613355
Yunis-Varon Syndrome
Ventricular septal defect, Premature birth, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardio... OMIM:216340
Okamoto Syndrome
Redundant neck skin, Ventricular septal defect, Bifid uterus, Abnormal left ventricle morphology,... ORPHA:2729
Pelvis-Shoulder Dysplasia
Ambiguous genitalia ORPHA:2839
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Multiple pulmonary cysts, Ventricular septal defect, Primary amenorrhea, Weakness of facial muscu... OMIM:619418
Campomelic Dysplasia
Ambiguous genitalia, Male pseudohermaphroditism ORPHA:140
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Flexion contr... ORPHA:261537
Digeorge Syndrome
Inguinal hernia, Ventricular septal defect, Femoral hernia, Parathyroid agenesis, Decreased circu... OMIM:188400
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Hyperhidrosis, Pheochromocytoma ORPHA:2874
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormal pulmonary valve ... ORPHA:857
9P13 Microdeletion Syndrome
Precocious puberty, Umbilical hernia, External genital hypoplasia ORPHA:324313
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... ORPHA:261552
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Arthrogryposis multiplex congenita, Dilation of Virchow-Robin spaces, Crypt... OMIM:619512
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Distal Deletion 3P
Atrioventricular canal defect ORPHA:1620
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coarctation of aorta, ... OMIM:616145
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Polyhydramnios, Hypoplasia of the thymus, Congenital pulmonary airway ... ORPHA:436252
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Varicose veins OMIM:617107
Phocomelia, Schinzel Type
Hydrops fetalis ORPHA:2879
Childhood Absence Epilepsy
Pallor ORPHA:64280
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Orofaciodigital Syndrome Xiv
Ventricular septal defect, Epispadias, Patent ductus arteriosus, Cryptorchidism, Atrial septal de... OMIM:615948
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Diastasis recti, Unilateral hypoplasia of pectoralis major muscle, Bifid uterus, Abnormal reprodu... ORPHA:1521
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... OMIM:612474
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... OMIM:269150
Mowat-Wilson Syndrome
Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Flexion contracture, Abn... ORPHA:2152
Neu-Laxova Syndrome
Ambiguous genitalia, Hypogonadism, External genital hypoplasia ORPHA:2671
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Ventricular septal defect, Hypospadias, Septate vagina, Urethrovaginal fist... OMIM:243800
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... OMIM:611962
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Recurrent respiratory infections, Ventricular septal defect, Peripheral pulmonary a... OMIM:619575
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Aortic regurgitation OMIM:620072
Apert Syndrome
Cryptorchidism, Overriding aorta, Ventricular septal defect, Vaginal atresia OMIM:101200
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Kabuki Syndrome 1
Ventricular septal defect, Premature thelarche, Cryptorchidism, Coarctation of aorta, Anoperineal... OMIM:147920
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Hypertension, Vesicovaginal fistula, Oligohydramnios OMIM:300896
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Annular pancreas, Co... ORPHA:2308
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Pa... OMIM:617140
Cerebrocostomandibular Syndrome
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Elbow flexion contracture, A... OMIM:117650
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Tetralogy of Fallot, Coarctation of aorta, Epidi... ORPHA:2044
Alagille Syndrome 1
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... OMIM:118450
Letterer-Siwe Disease
Pallor OMIM:246400
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Coarctation of aorta, Epididymal cyst, Atrial... OMIM:136140
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Atrioventricular canal defect, Polyhydramnios, Coarctation of aorta OMIM:617088
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Macroglossia, Distal arthrog... OMIM:618268
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Bifid uterus ORPHA:2736
Desmosterolosis
Ambiguous genitalia ORPHA:35107
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... ORPHA:536532
Hajdu-Cheney Syndrome
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Hypospadias OMIM:102500
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Limb hypertonia OMIM:609460
Bainbridge-Ropers Syndrome
Death in infancy, Supernumerary nipple, Precocious puberty, Cryptorchidism, Contracture of the pr... OMIM:615485
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hyp... ORPHA:69085
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Prematur... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Prematur... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Prematur... ORPHA:99226
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Pallor OMIM:194380
Turner Syndrome
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Prematur... ORPHA:881
Oeis Complex
Omphalocele, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal... OMIM:258040
Familial Thrombocytosis
Transient ischemic attack, Peripheral arterial stenosis, Syncope, Cerebral ischemia, Pulmonary ar... ORPHA:71493
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Camptodactyly OMIM:272950
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... OMIM:154700
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocele testi... OMIM:619522
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Pancreatic hypoplasia, Flexion contracture, Pancreatic aplasia OMIM:609069
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Patent ductus arteriosus, Coarctation of aorta, Unilateral facial palsy, Atrioventri... OMIM:619480
Atypical Werner Syndrome
Skeletal muscle atrophy, Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebr... ORPHA:79474
Aregenerative Anemia
Pallor ORPHA:101096
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Micropenis OMIM:613091
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Hypospadias, Ankle flexion contracture, Enlarged labia minora, Polyhyd... OMIM:268300
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger OMIM:164200
Holoprosencephaly-Postaxial Polydactyly Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:2166
Elliptocytosis 1
Pallor OMIM:611804
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Progressive flexion contractures ORPHA:522077
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... OMIM:107480
Sotos Syndrome
Hip contracture, Ventricular septal defect, Hypospadias, Ankle flexion contracture, Phimosis, Sma... ORPHA:821
Ulnar-Mammary Syndrome
Inguinal hernia, Small scrotum, Ventricular septal defect, Ectopic posterior pituitary, Anterior ... OMIM:181450
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia, Redundant skin OMIM:250220
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... OMIM:271640
Tolchin-Le Caignec Syndrome
Precocious puberty, Umbilical hernia, Diastasis recti, Cardiac rhabdomyoma OMIM:618971
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aorta, Hypertension, ... OMIM:220111
Orofaciodigital Syndrome Type 14
Bilateral cryptorchidism, Epispadias, Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Hepatoerythropoietic Porphyria
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:95159
Early Infantile Epileptic Encephalopathy
Precocious puberty, Micropenis, Ventricular septal defect ORPHA:1934
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:565
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Cryptorchidism OMIM:616300
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty ORPHA:163681
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism... OMIM:194190
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... ORPHA:500095
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty OMIM:163200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Oculodentodigital Dysplasia
Arrhythmia, Ventricular septal defect, Camptodactyly of finger ORPHA:2710
Alexander Disease
Diabetes mellitus, Facial palsy, Precocious puberty, Hyperhidrosis, Hypothyroidism ORPHA:58
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Aplasia of the vagina, Facial hypotonia, Aplasia of the uterus ORPHA:457284
Vater/Vacterl Association
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Transposition of the great arte... OMIM:192350
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Abnormal heart valve morphology, Telangiectasia of the skin, Tr... ORPHA:286
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Hypovolemia, Peripheral arterial stenosis, Elevated diast... ORPHA:90041
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Enamel hypoplasia, Hypospadias, Type II diabetes mellitus OMIM:210720
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Patent ductus arteriosus, Telangiectasia of the skin, Arterial stenosis ORPHA:1556
Congenital Erythropoietic Porphyria
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:79277
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios OMIM:608670
Ablepharon Macrostomia Syndrome
Ambiguous genitalia, Abnormality of female external genitalia, Hypoplasia of penis ORPHA:920
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect, Supernumerary nipple ORPHA:1071
Fraser Syndrome 2
Ambiguous genitalia OMIM:617666
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Pancreatoblasto... ORPHA:99889
Ring Chromosome 13 Syndrome
Bifid scrotum, Hypospadias, Ambiguous genitalia, Micropenis, Urogenital sinus anomaly ORPHA:96176
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Cerebrocostomandibular Syndrome
Ventricular septal defect ORPHA:1393
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventricular block, Int... OMIM:259900
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... ORPHA:2052
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valv... OMIM:619475
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Prominent scalp veins, Hypospadias, Pneumonia, Secundum atrial ... OMIM:264090
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Patent ductus arteriosus... ORPHA:500150
Goodpasture Syndrome
Nodular pattern on pulmonary HRCT, Pallor, Hemosiderin-laden macrophages in bronchoalveolar fluid... OMIM:233450
Aicardi Syndrome
Precocious puberty, Recurrent pneumonia, Lipoma, Hiatus hernia OMIM:304050
Desmosterolosis
Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:602398
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect, External genital hypoplasia ORPHA:141099
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration ORPHA:2976
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Dentinogenesis imperfecta, Type I diabetes mellitus OMIM:619269
Otopalatodigital Syndrome, Type Ii
Hypospadias, Elbow contracture, Cryptorchidism, Stillbirth, Atrial septal defect, Dilatation of t... OMIM:304120
Orofaciodigital Syndrome Type 2
Atrioventricular canal defect, Central retinal vessel vascular tortuosity ORPHA:2751
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Precocious puberty, Macroo... OMIM:619950
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Umbilical hernia, Cholelithiasis OMIM:301066
Cousin Syndrome
Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Loeys-Dietz Syndrome
Atypical scarring of skin, Patent ductus arteriosus, Camptodactyly of finger, Uterine rupture ORPHA:60030
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Lower-limb joint contracture, Ventricular septal defect, Pineal cyst ORPHA:513456
Aicardi Syndrome
Precocious puberty, Multiple lipomas, Delayed puberty, Hiatus hernia ORPHA:50
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiomyopathy, Hypoplastic nipples, At... ORPHA:480880
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Muscular dystrophy OMIM:253280
Congenital Disorder Of Glycosylation, Type Iiw
Bile duct proliferation, Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Recurrent pneumonia, Ventricular septal defect, Recurrent bronchitis, Small scrotum OMIM:620330
Ablepharon-Macrostomia Syndrome
Ambiguous genitalia, Micropenis, Hypoplastic labia majora OMIM:200110
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Sitosterolemia 1
Coronary artery atherosclerosis, Carotid artery stenosis OMIM:210250
Tibial Hemimelia
Ambiguous genitalia, Cryptorchidism, Hypospadias ORPHA:93322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Elbow flexion contracture, Anteriorly displaced genit... OMIM:276820
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Secundum atrial septal defect, Subarterial ventricular septal defect... ORPHA:99646
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Multiple lipomas, Pheoch... ORPHA:636
Meckel Syndrome, Type 1
External genital hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Ambiguous genitalia, ma... OMIM:249000
Lathosterolosis
Ambiguous genitalia, male OMIM:607330
Norrie Disease
Diabetes mellitus, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puberty ORPHA:649
Sponastrime Dysplasia
Precocious puberty, Hypothyroidism, Recurrent pneumonia, Hypospadias ORPHA:93357
Craniofacial Microsomia 1
Ventricular septal defect, Hypoplasia of facial musculature, Patent ductus arteriosus, Coarctatio... OMIM:164210
Familial Atrial Fibrillation
Palpitations, Atrial fibrillation, Syncope, 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.

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

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