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Gene: Cited2 MGI:1306784

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2

Synonyms:

Msg2, Mrg1, p35srj

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 Cited2 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.

Human diseases associated with Cited2 (5 diseases)
Human diseases predicted to be associated with Cited2 (1565 diseases)

The table below shows human diseases associated to Cited2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Tetralogy Of Fallot	Cryptorchidism, Tetralogy of Fallot	ORPHA:3303
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103

The table below shows human diseases predicted to be associated to Cited2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa...	OMIM:619702
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer...	OMIM:605376
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Posterior embryotoxon, Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary arter...	OMIM:617992
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotransposition of the great ar...	OMIM:306955
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion	OMIM:619462
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Aneurysm Of Interventricular Septum	Vascular dilatation, Abnormal ventricular septum morphology	OMIM:105805
Heterotaxy, Visceral, 5, Autosomal	Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspleni...	OMIM:270100
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia	OMIM:617577
Hypoplastic Left Heart Syndrome	Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic...	ORPHA:2248
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t...	OMIM:601927
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa...	ORPHA:185
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Nuchal Bleb, Familial	Fetal cystic hygroma, Hydrops fetalis	OMIM:257350
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ...	OMIM:185500
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Hydrops Fetalis, Nonimmune	Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:236750
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial...	OMIM:608978
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Ectopic kidney, Cryptorchidism, Abnormal heart morphology, Atrial sept...	ORPHA:401935
Fetal Parvovirus Syndrome	Intrauterine growth retardation, Increased nuchal translucency, Ascites, Hydrops fetalis	ORPHA:295
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis	OMIM:601355
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary ven...	OMIM:617478
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Microphthalmia, Syndromic 9	Agenesis of pulmonary vessels, Pulmonary artery atresia, Neonatal death, Atrial septal defect, Pe...	OMIM:601186
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Hypop...	ORPHA:3426
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Aplasia/Hypoplasia of the thymus, Hypoplastic left ...	ORPHA:1727
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect	ORPHA:2516
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali...	OMIM:615415
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defe...	ORPHA:3304
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect	OMIM:619608
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios	OMIM:613124
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Decreased nerve conduction ve...	ORPHA:477817
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri...	OMIM:619657
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coro...	OMIM:618845
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus...	OMIM:618280
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus	OMIM:616589
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arter...	OMIM:617516
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus	OMIM:611867
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulation test, Ad...	OMIM:220210
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ...	OMIM:617021
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Verheij Syndrome	Branchial cyst, Ventricular septal defect, Optic nerve hypoplasia, Renal hypoplasia, Renal cyst, ...	OMIM:615583
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	OMIM:300845
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron...	ORPHA:244
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Whim Syndrome 2	Tetralogy of Fallot, Chronic neutropenia	OMIM:619407
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi...	ORPHA:1354
Congenital Herpes Simplex Virus Infection	Hydranencephaly, Intrauterine growth retardation, Premature birth	ORPHA:293
Cardioacrofacial Dysplasia 2	Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus	OMIM:619143
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Dextrocardia	Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal lung lobation, Abnormal...	ORPHA:1666
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Patent forame...	OMIM:600001
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Left superior vena cava drai...	OMIM:613759
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology	ORPHA:1208
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron...	OMIM:615482
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de...	OMIM:265380
Cat-Eye Syndrome (Type I)	Iris coloboma, Abnormal heart morphology	DECIPHER:42
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Interrupted aortic arch, Unilatera...	OMIM:192430
Acrocardiofacial Syndrome	Death in infancy, Hypoplasia of penis, Hyperthyroidism, Ventricular septal defect, Mitral stenosi...	ORPHA:2008
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Biliary atresia, Aplasia/Hypo...	ORPHA:2255
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:179613
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia	OMIM:611884
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Alagille Syndrome 2	Posterior embryotoxon, Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot...	OMIM:610205
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Emanuel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Unilateral renal...	OMIM:609029
8p23.1 deletion syndrome	Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia	OMIM:614679
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Keutel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent...	ORPHA:85202
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu...	ORPHA:980
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Isomerism, Transposition of the great arteries, Pulmonary hypoplasia, Atrioventricu...	OMIM:314390
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Fanconi Anemia, Complementation Group Q	Primum atrial septal defect	OMIM:615272
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis...	OMIM:616037
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Hypospadias, Parach...	OMIM:618316
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ...	OMIM:619534
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis, Adrenal insufficiency	ORPHA:251076
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Short Stature-Wormian Bones-Dextrocardia Syndrome	Patent ductus arteriosus, Dextrocardia	ORPHA:2863
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation	ORPHA:1705
Testicular Anomalies With Or Without Congenital Heart Disease	Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis, Abnormality of thyroid physiology	OMIM:615542
Heart And Brain Malformation Syndrome	Ventricular septal defect, Interrupted aortic arch	OMIM:616920
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Spinal Muscular Atrophy, Type I	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Death in child...	OMIM:253300
Emanuel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Unilateral renal...	ORPHA:96170
Achondrogenesis, Type Ib	Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Umbilical hernia	OMIM:600972
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia...	ORPHA:251071
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Pulmonary hy...	OMIM:617022
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the...	OMIM:620236
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Hydrops fetalis, Polyhydramnios, Oligohydramnios	ORPHA:163596
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s...	OMIM:619897
Indomethacin Embryofetopathy	Premature birth, Hydrops fetalis, Oligohydramnios	ORPHA:1909
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc...	ORPHA:2302
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Bronchiectasis, Dextrocardia	OMIM:618063
Alagille Syndrome	Keratoconus, Ventricular septal defect, Telangiectasia of the skin, Corneal dystrophy, Abnormal p...	ORPHA:52
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis...	ORPHA:229
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Congenital Hydrocephalus	Hydrocephalus, Iris coloboma, Abnormal heart morphology	ORPHA:2185
Mulibrey Nanism	Corneal dystrophy, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Astigmatism, Peri...	OMIM:253250
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a...	ORPHA:1329
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi...	OMIM:132900
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Intrauterine growth retardation, Pulmonary artery stenosis, Ventricular sep...	ORPHA:75389
Kallmann Syndrome-Heart Disease Syndrome	Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery from the pulmonary artery...	ORPHA:2326
Biemond Syndrome Ii	Hydrocephalus, Iris coloboma	OMIM:210350
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterio...	ORPHA:163979
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p...	ORPHA:95430
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Microcornea, Patent ductus arteriosus, Iris coloboma	OMIM:615147
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac septum morphology, Inte...	ORPHA:250989
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterio...	OMIM:300712
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc...	OMIM:615996
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,...	OMIM:620014
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Aortic regurgitation, Keratoconus, Carotid artery dissection, Pulmonary ...	OMIM:208050
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Abnormal lung lo...	ORPHA:1120
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Iris coloboma	ORPHA:88630
Feingold Syndrome Type 1	Renal insufficiency, Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular ...	ORPHA:391641
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Gillespie Syndrome	Hypoplasia of the iris, Truncus arteriosus, Aniridia	OMIM:206700
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Tetrasomy 15Q26	Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Horseshoe kidney, Atrial septal...	OMIM:614846
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia	OMIM:606763
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Papilledema, Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve ...	ORPHA:371428
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Alpha-1-Antitrypsin Deficiency	Emphysema	ORPHA:60
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Hydroceph...	ORPHA:2306
Phaver Syndrome	Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo...	ORPHA:2876
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt...	OMIM:249270
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent...	OMIM:615444
Li-Campeau Syndrome	Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Cryptorchidism, Atrial septa...	OMIM:619189
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Patent ductus arteriosus, Mitral valve prolapse, Microcornea, Abnormal ...	ORPHA:2712
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Abruzzo-Erickson Syndrome	Microcornea, Coloboma, Chorioretinal coloboma, Atrial septal defect, Iris coloboma	ORPHA:921
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Global Developmental Delay With Or Without Impaired Intellectual Development	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Pulmonary sequestration, Atrial...	OMIM:618330
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Sclerocornea, Limbal dermoid, Hydrocephalus, Hypoplasia of the iris, S...	OMIM:613001
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:601706
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Ogden Syndrome	Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia, Ventricular septal defect	ORPHA:276432
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus...	OMIM:613686
Achondrogenesis	Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios	ORPHA:932
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati...	ORPHA:70588
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypospadias, Facial palsy, ...	ORPHA:508498
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Hypospadias	ORPHA:250994
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hydrops fetalis, Polyhydramnios	ORPHA:2204
22Q11.2 Deletion Syndrome	Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, Vesicoureteral...	ORPHA:567
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Hydrocephalus, Chordee, Atrial septal d...	OMIM:309801
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Optic atrophy, Double outlet right ventricle, Supravalv...	OMIM:618164
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Hydrocephalus, Renal tubular dysfunction, Atrial septal defect, Choleli...	OMIM:614886
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,...	ORPHA:101028
Arterial Tortuosity Syndrome	Keratoconus, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Cong...	ORPHA:3342
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Recurrent respiratory infections, Hepatic steatosis, Hepatomegaly, Hypospadias, Patent ductus art...	ORPHA:17
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Pulm...	ORPHA:2257
Distal Deletion 13Q	Encephalocele, Anencephaly, Abnormal cardiac septum morphology, Holoprosencephaly, Iris coloboma	ORPHA:1590
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly	OMIM:610023
Congenital Myopathy 11	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619967
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Abnormality of th...	ORPHA:1926
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Sialidosis Type 2	Umbilical hernia, Ascites, Hydrops fetalis, Pedal edema	ORPHA:87876
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia	OMIM:618067
Tetralogy Of Fallot	Cryptorchidism, Tetralogy of Fallot	ORPHA:3303
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Atrial septal defect, Tetra...	OMIM:612946
Alg3-Cdg	Abnormality of the endocrine system, Coarctation of the descending aortic arch, Cardiomyopathy, N...	ORPHA:79321
Microphthalmia, Isolated, With Coloboma 5	Holoprosencephaly, Iris coloboma, Chorioretinal coloboma	OMIM:611638
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios...	OMIM:164280
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He...	OMIM:613807
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect...	ORPHA:79126
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Vascular ring	OMIM:616954
Digeorge Syndrome	Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypothyroidism, Hep...	OMIM:188400
Von Willebrand Disease	Abnormal mitral valve morphology, Venous insufficiency	ORPHA:903
Isolated Dandy-Walker Malformation	Encephalocele, Tetralogy of Fallot	ORPHA:217
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction velocity, Aortic roo...	OMIM:616652
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Cardiomegaly, Left ven...	OMIM:618052
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation	OMIM:600195
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Optic atrophy, Stroke, Atrial...	ORPHA:49827
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral...	OMIM:123700
Diffuse Neonatal Hemangiomatosis	Ascites, Premature birth, Hydrops fetalis, Polyhydramnios	ORPHA:2123
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Contractures-Developmental Delay-Pierre Robin Syndrome	Atrial septal defect, Syringomyelia, Iris coloboma, Peripheral pulmonary artery stenosis	ORPHA:436003
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth...	ORPHA:2902
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Congenital Disorder Of Glycosylation, Type Ik	Intrauterine growth retardation, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis	OMIM:608540
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Cryptorchidism, Abnormal aortic morphology, Multiple renal cysts, Vesi...	ORPHA:1166
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Achondrogenesis Type 1B	Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios	ORPHA:93298
Infantile Sialic Acid Storage Disease	Hydrocephalus, Ascites, Premature birth, Hydrops fetalis	OMIM:269920
Temtamy Syndrome	Iris coloboma, Chorioretinal coloboma, Aortic aneurysm	ORPHA:1777
Congenital Heart Block	Premature birth, Pericardial effusion, Hydrops fetalis, Peripheral edema, Vaginal birth after Cae...	ORPHA:60041
Temtamy Syndrome	Aortic regurgitation, Lens luxation, Ectopia lentis, Chorioretinal coloboma, Iris coloboma, Aorti...	OMIM:218340
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Ascites, Increased p...	ORPHA:1041
3C Syndrome	Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, Hy...	ORPHA:7
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Coarctat...	OMIM:620210
Fetal Minoxidil Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:1918
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple...	OMIM:612387
Nephronophthisis 16	Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ...	OMIM:615382
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly...	ORPHA:290
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Chondrodysplasia, Blomstrand Type	Fetal ascites, Premature birth, Hydrops fetalis, Polyhydramnios	OMIM:215045
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Distal Triplication 15Q	Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Horseshoe kidney, Abnormal hear...	ORPHA:314588
Distal 22Q11.2 Microdeletion Syndrome	Recurrent respiratory infections, Branchial fistula, Ventricular septal defect, Atrial septal def...	ORPHA:261330
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Optic disc pallor	OMIM:300887
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Pulmonary hypoplas...	OMIM:611812
Achondrogenesis Type 1A	Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios	ORPHA:93299
Charge Syndrome	Aortic arch aneurysm, Hypogonadotropic hypogonadism, Facial palsy, Aqueductal stenosis, Cryptorch...	ORPHA:138
Monosomy 13Q34	Common atrium, Pulmonic stenosis	ORPHA:96168
Kapur-Toriello Syndrome	Ventricular septal defect, Patent ductus arteriosus, Retinal coloboma, Tetralogy of Fallot, Iris ...	ORPHA:2328
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ...	OMIM:612561
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta	OMIM:615502
Cardiomyopathy, Familial Restrictive, 6	Ascites, Hydrops fetalis	OMIM:619433
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Abnormal autonomic ne...	OMIM:613870
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ...	OMIM:613834
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Ventricular septal defect, Hypospadias, Pulmonary artery atresia, Optic nerve hypop...	OMIM:301056
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane...	ORPHA:1908
Methimazole Embryofetopathy	Ventricular septal defect, Abnormality of the thyroid gland, Coarctation of aorta, Abnormal aorti...	ORPHA:1923
Ellis-Van Creveld Syndrome	Atrial septal defect, Cryptorchidism, Common atrium	OMIM:225500
Poland Syndrome	Dextrocardia	OMIM:173800
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:620321
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hyper...	OMIM:100300
Charge Syndrome	Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi...	OMIM:214800
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Coarctation of aorta	OMIM:618929
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ...	ORPHA:2357
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Complete atrioventric...	OMIM:264480
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot	ORPHA:1919
Cat-Eye Syndrome	Intrauterine growth retardation, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea	ORPHA:254361
Down Syndrome	Ventricular septal defect, Brushfield spots, Complete atrioventricular canal defect, Patent ductu...	OMIM:190685
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Sclerocornea, Patent ductus arteriosus, Hydrocephalus, Holoprosencepha...	ORPHA:77298
Wolcott-Rallison Syndrome	Hepatomegaly, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Jaundice, Chroni...	ORPHA:1667
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Prune Belly Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Renal insufficiency, Ventricular ...	ORPHA:2970
Werner Syndrome	Cataract, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Myocardial infarctio...	ORPHA:902
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Pulmonary artery stenosis	ORPHA:435938
Donnai-Barrow Syndrome	Umbilical hernia, Ventricular septal defect, Iris coloboma	ORPHA:2143
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten...	OMIM:609008
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm...	OMIM:115470
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Splenomegaly...	ORPHA:2729
Brachytelephalangic Chondrodysplasia Punctata	Recurrent respiratory infections, Cataract, Ventricular septal defect, Pulmonary artery stenosis,...	ORPHA:79345
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Kleefstra Syndrome	Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Pulmonary art...	ORPHA:261494
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Atelectasis, Bronch...	OMIM:244400
Humero-Radial Synostosis	Meningocele, Iris coloboma, Chorioretinal coloboma	ORPHA:3265
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Igg4-Related Aortitis	Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a...	ORPHA:449400
Glycogen Storage Disease Iv	Decreased fetal movement, Polyhydramnios, Edema, Hydrops fetalis, Ascites	OMIM:232500
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Ventricular septal defect, Death in infancy	OMIM:614876
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, Transposition of the great arteries, Atrial septal defect...	ORPHA:1913
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Mitral atresia, Pulmonary artery stenosis, Abnormal cardiac septum morpholo...	ORPHA:140952
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy...	ORPHA:1335
Bardet-Biedl Syndrome 2	Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Hypogonadism, Atrial septal defect	OMIM:615981
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts	OMIM:613095
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coarctation of aorta, ...	OMIM:616145
Apert Syndrome	Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hydronephrosis	OMIM:101200
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Increased serum...	OMIM:618901
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hydrops fetalis, Fetal akinesia sequence	OMIM:618815
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Atri...	OMIM:618652
Trisomy 13	Cataract, Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Aplasia/Hy...	ORPHA:3378
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology, Astigmatism, Chorioretinal coloboma, Peters...	ORPHA:494344
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Ventricular septal defect, Optic nerve hypoplasia, U...	ORPHA:508488
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren...	ORPHA:369929
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal car...	OMIM:614294
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Cryptorchidism, Abnormal aortic...	ORPHA:2059
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap...	ORPHA:2396
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus...	OMIM:606003
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Abnormal v...	ORPHA:163956
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta...	OMIM:615184
Long Qt Syndrome 3	Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:603830
Congenital Pulmonary Lymphangiectasia	Pleural effusion, Ascites, Hydrops fetalis, Chylopericardium	ORPHA:2414
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Aspl...	ORPHA:210122
Triploidy	Cataract, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, Intr...	ORPHA:3376
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Recombinant 8 Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def...	ORPHA:96167
Joubert Syndrome 15	Exencephaly	OMIM:614464
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Hydrocephalus	ORPHA:83473
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,...	ORPHA:2847
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux, Abnormal cranial nerve mo...	ORPHA:228399
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef...	ORPHA:2476
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Dilation of Virchow-Robin spaces, Ventricular septal defect, Pulmonary artery stenosis, Atrial se...	OMIM:300998
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Crossed fused renal ectopia, Multicystic kidney dysplasia, Abnormality of the splee...	ORPHA:2538
Hemochromatosis, Neonatal	Intrauterine growth retardation, Nonimmune hydrops fetalis, Oligohydramnios	OMIM:231100
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Iris coloboma	ORPHA:139450
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Holoprosencephaly, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal...	OMIM:618142
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Diabetes insipidus, Abnormal pleura morphology, Recurrent phar...	ORPHA:397
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Hepatomegaly, Death in infancy, Ventricular septal defect, Ectopic kidney, Cry...	OMIM:613730
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:251274
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Mmep Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:3434
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Weill-Marchesani Syndrome	Cataract, Ventricular septal defect, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aor...	ORPHA:3449
Mitochondrial Complex I Deficiency, Nuclear Type 35	Intrauterine growth retardation, Nonimmune hydrops fetalis	OMIM:619003
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Death in infancy, Ventricular septal defect, Unilateral renal agenesi...	OMIM:614576
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections...	OMIM:619769
Klippel-Trénaunay Syndrome	Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Patent d...	ORPHA:90308
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen...	ORPHA:1600
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ...	OMIM:617506
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Hypospadias, Abnormal cardiac ventricle morphology, Hypoplastic...	ORPHA:261311
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Abnormal coronary ar...	ORPHA:488618
Renal Tubular Dysgenesis	Tetralogy of Fallot, Pulmonary hypoplasia	ORPHA:3033
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Patent ductus arteriosus, Chorioretinal coloboma, Aortic valve stenosis, I...	OMIM:243310
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp...	OMIM:620135
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa...	OMIM:618624
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Abnormal ...	OMIM:618494
Kapur-Toriello Syndrome	Cataract, Ventricular septal defect, Patent ductus arteriosus, Retinal coloboma, Atrial septal de...	OMIM:244300
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a...	OMIM:277380
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Normochro...	OMIM:614857
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi...	OMIM:208540
Idiopathic Neonatal Atrial Flutter	Hydrops fetalis, Fetal distress	ORPHA:45452
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Abnormal cerebral vascular morphology, Primary adrenal i...	ORPHA:3453
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina bifida, Asplenia,...	ORPHA:99776
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites	ORPHA:69735
Distal Deletion 15Q	Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Bicuspid aortic valve...	ORPHA:1596
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Cataract, Congestive...	ORPHA:90349
Bardet-Biedl Syndrome 17	Situs inversus totalis, Dextrocardia	OMIM:615994
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Aortic Aneurysm, Familial Thoracic 9	Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse	OMIM:616166
Syndromic Diarrhea	Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,...	ORPHA:84064
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Thanatophoric Dysplasia Type 2	Encephalocele, Patent ductus arteriosus, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Holopros...	ORPHA:93274
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Timothy Syndrome	Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothyroidism, Patent ductus art...	OMIM:601005
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Lymphatic Malformation 1	Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis	OMIM:153100
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Retinal coloboma, Transposition of the grea...	OMIM:280000
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect, Iris coloboma	ORPHA:52055
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis	ORPHA:896
Ciliary Dyskinesia, Primary, 3	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Lateral Meningocele Syndrome	Ventricular septal defect, Meningocele, Dural ectasia, Syringomyelia, Umbilical hernia, Iris colo...	ORPHA:2789
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ...	OMIM:619149
Trisomy 8P	Abnormal atrioventricular connection, Hydrocephalus, Recurrent upper respiratory tract infections...	ORPHA:264450
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Alobar holoprosencephal...	OMIM:301043
Boomerang Dysplasia	Hydrops fetalis, Polyhydramnios	ORPHA:1263
Noonan Syndrome 8	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pleural effusion, Pulmonic s...	OMIM:615355
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong...	OMIM:614473
Joint Laxity, Short Stature, And Myopia	Umbilical hernia, Iris coloboma, Chorioretinal coloboma	OMIM:617662
Fetal Encasement Syndrome	Bilateral trilobed lung, Tetralogy of Fallot	OMIM:613630
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Microphthalmia, Syndromic 12	Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Pulmonary hypoplasia, Neonata...	OMIM:615524
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Congenital Myopathy 1B, Autosomal Recessive	Decreased fetal movement, Hydrops fetalis, Polyhydramnios	OMIM:255320
Floating-Harbor Syndrome	Coarctation of aorta, Atrial septal defect, Umbilical hernia, Mesocardia, Persistent left superio...	OMIM:136140
Microcephaly-Cardiomyopathy Syndrome	Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Cryptorchidism,...	ORPHA:500159
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Anal atresia, Abnormal crani...	ORPHA:2345
Hypomelanosis Of Ito	Cataract, Iris coloboma	OMIM:300337
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defe...	OMIM:301030
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
Immunodeficiency 49	Umbilical hernia, Pulmonary artery stenosis	OMIM:617237
Noonan Syndrome 9	Cryptorchidism, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis	OMIM:618838
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Patent ductus arteriosus, Optic disc coloboma	OMIM:241310
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta...	OMIM:600987
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia	OMIM:616867
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis	ORPHA:477774
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Lambert Syndrome	Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic bi...	ORPHA:1296
Phace Syndrome	Cataract, Cerebral arteriovenous malformation, Sclerocornea, Lens coloboma, Abnormal heart morpho...	ORPHA:42775
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, Hydrocephalus, Hematochezia, Anterio...	OMIM:619575
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Intrauterine growth ret...	OMIM:300707
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Hypoplasia of penis, Ventricular septal defect, Aganglionic megacolon, Cryptorc...	ORPHA:452
Focal Dermal Hypoplasia	Telangiectasia of the skin, Ventricular septal defect, Spina bifida, Corneal opacity, Ectopia len...	ORPHA:2092
Alg2-Cdg	Cataract, Iris coloboma	ORPHA:79326
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Hypoplastic spleen, Patent foramen ovale	ORPHA:89844
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Bi...	OMIM:611134
Laurence-Moon Syndrome	Cataract, Iris coloboma	ORPHA:2377
Pagod Syndrome	Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Situs inversus total...	ORPHA:991
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Fanconi Renotubular Syndrome 5	Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Portal hypertension, Situs inversus totalis, Pancreatic cysts, Pate...	OMIM:267010
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Zika Virus Disease	Chorioretinal atrophy, Conjunctivitis, Lens subluxation, Intrauterine growth retardation, Iris co...	ORPHA:448237
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, Optic disc coloboma, Re...	OMIM:300472
Congenital Myopathy 12	Pulmonary artery stenosis	OMIM:612540
Floating-Harbor Syndrome	Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe...	ORPHA:2044
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect	OMIM:113301
Bresek Syndrome	Neonatal death, Intrauterine growth retardation, Hydrocephalus, Iris coloboma	ORPHA:85284
Anophthalmia Plus Syndrome	Iris coloboma, Spina bifida	ORPHA:1104
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Intracranial hemorrhage, Dexamethasone-suppressi...	ORPHA:403
Hijazi-Reis Syndrome	Recurrent respiratory infections, Astigmatism, Iris coloboma	OMIM:301094
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Hepatomegaly, Patent ductus arteriosus, Atrial septal defect, H...	ORPHA:1842
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Respiratory insufficiency	OMIM:618042
Thoracoabdominal Syndrome	Hypospadias, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Transpos...	OMIM:313850
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Corneal opacity, Spina bifida, Myelomeningocele, Abnorm...	ORPHA:2369
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Pa...	OMIM:617159
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorioretinal coloboma, ...	OMIM:602499
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal...	ORPHA:2041
Congenital Disorder Of Glycosylation, Type Ii	Dilation of Virchow-Robin spaces, Iris coloboma, Cataract	OMIM:607906
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Supr...	OMIM:300855
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
8P Inverted Duplication/Deletion Syndrome	Aplasia/Hypoplasia of the gallbladder, Tetralogy of Fallot, Dextrocardia, Abnormal heart morphology	ORPHA:96092
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlar...	ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Carpenter Syndrome 1	Hydroureter, Ventricular septal defect, Precocious puberty, Cryptorchidism, Patent ductus arterio...	OMIM:201000
Alagille Syndrome 1	Posterior embryotoxon, Cataract, Ventricular septal defect, Band keratopathy, Abnormal anterior c...	OMIM:118450
Ciliary Dyskinesia, Primary, 23	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis	OMIM:615451
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Right ventricul...	ORPHA:422
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Uveitis,...	OMIM:221900
Autism Spectrum Disorder Due To Auts2 Deficiency	Atrial septal defect, Cryptorchidism, Umbilical hernia, Abnormal heart morphology	ORPHA:352490
Mass Syndrome	Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse	OMIM:604308
Sturge-Weber Syndrome	Conjunctival telangiectasia, Corneal dystrophy, Abnormal cerebral vascular morphology, Pulmonary ...	ORPHA:3205
Mosaic Trisomy 16	Ventricular septal defect, Hypospadias, Maternal diabetes, Large placenta, Patent ductus arterios...	ORPHA:1708
Frontofacionasal Dysplasia	Encephalocele, Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma	ORPHA:1791
Microform Holoprosencephaly	Holoprosencephaly, Intrauterine growth retardation, Cyclopia, Tetralogy of Fallot, Iris coloboma	ORPHA:280200
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Atrial septal defect	ORPHA:52056
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Corneal opacity, Congestive heart failure, Dilatation of the ventricular ca...	ORPHA:90348
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Spina bifida occulta, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Atelis Syndrome 1	Ventricular septal defect, Thrombocytopenia, Bronchiectasis, Leukopenia, Atrial septal defect, Hy...	OMIM:620184
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Macrovesicular hepatic steatosis, Death in childhood, Neutropenia, Atrial septal defe...	OMIM:617303
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Peripheral pulmonary artery stenosis	OMIM:614749
Fanconi Anemia, Complementation Group B	Death in infancy, Hypergonadotropic hypogonadism, Ventricular septal defect, Aplastic anemia, Pat...	OMIM:300514
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Death in infancy, Urinary incontinence, Pericardial effusion, Multiple muscular ventricular septa...	OMIM:620070
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Alg8-Cdg	Premature birth, Edema, Hydrops fetalis, Intrauterine growth retardation, Ascites, Oligohydramnios	ORPHA:79325
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Hypospadias, Cryptorchidism, Microvesicular hepatic steatosis, Dila...	OMIM:610198
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Thanatophoric Dysplasia	Atrial septal defect, Hydrocephalus, Patent ductus arteriosus, Pulmonary hypoplasia	ORPHA:2655
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, V...	ORPHA:568051
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnor...	ORPHA:353281
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Abnormal aortic morphology	ORPHA:3222
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Atria...	ORPHA:329224
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
De Barsy Syndrome	Recurrent sinopulmonary infections, Ventricular septal defect, Cryptorchidism, Patent ductus arte...	ORPHA:2962
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentrat...	OMIM:620211
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Hydrops fetalis, Single umbilical artery, Intrauterine growth retardation, Pleura...	OMIM:616897
Schuurs-Hoeijmakers Syndrome	Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac septum morpholo...	OMIM:615009
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Cryptorchidism, Aortic root aneurysm, Ventricular septal defect	OMIM:301039
Tatton-Brown-Rahman Syndrome	Cryptorchidism, Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Umbilical h...	ORPHA:404443
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Congenital Enterovirus Infection	Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, H...	ORPHA:292
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Congenital megaur...	ORPHA:2437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Transpo...	OMIM:253800
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Premature thelarche, Bilateral cryptorchidism, Cryptorchidism, Patent ...	OMIM:180849
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H...	OMIM:602782
Hypophosphatasia	Emphysema, Respiratory insufficiency	ORPHA:436
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, ...	OMIM:218350
Joubert Syndrome With Ocular Defect	Encephalocele, Dextrocardia, Hydrocephalus, Retinal coloboma, Iris coloboma	ORPHA:220493
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Alpha-Thalassemia	Hydrops fetalis	ORPHA:846
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:615668
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro...	OMIM:620233
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve	OMIM:617744
Holoprosencephaly	Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Cyclopia, Hydrocep...	ORPHA:2162
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve...	ORPHA:1880
Free Sialic Acid Storage Disease	Ascites, Hydrops fetalis	ORPHA:834
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Chorioretinal coloboma, Atrial septal defect, Iris co...	OMIM:615219
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
3Q29 Microduplication Syndrome	Cataract, Ventricular septal defect, Sclerocornea, Aniridia, Iris coloboma	ORPHA:251038
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Johanson-Blizzard Syndrome	Dextrocardia, Abnormality of the pancreas, Abnormal cardiac septum morphology, Anemia, Exocrine p...	ORPHA:2315
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Optic atrophy, Atrial septal...	ORPHA:457193
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Stillbirth, Edema, Pedal edema	OMIM:152800
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cryptorchidism, Tetralogy of Fallot	ORPHA:1381
Cardiomyopathy, Familial Restrictive, 3	Restrictive cardiomyopathy, Aortic aneurysm, Myocardial sarcomeric disarray, Right atrial enlarge...	OMIM:612422
Donnai-Barrow Syndrome	Cataract, Ventricular septal defect, Hypoplasia of the iris, Umbilical hernia, Iris coloboma	OMIM:222448
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia	ORPHA:96097
Formiminoglutamic Aciduria	Atrial septal defect, Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic...	ORPHA:51208
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Linear Verrucous Nevus Syndrome	Abnormal cornea morphology, Cataract, Iris coloboma	ORPHA:2611
Knobloch Syndrome	Lymphangioma, Patent ductus arteriosus, Occipital encephalocele, Dextrocardia	ORPHA:1571
Terminal Osseous Dysplasia	Iris coloboma	OMIM:300244
Ulnar Agenesis And Endocardial Fibroelastosis	Hydrops fetalis	OMIM:276822
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Holoprosencephaly 14	Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v...	OMIM:619895
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Ventricular septal defect	OMIM:616816
Neuraminidase Deficiency	Facial edema, Ascites, Hydrops fetalis	OMIM:256550
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Patent ductus arter...	OMIM:220500
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Nephronophthisis 14	Situs inversus totalis	OMIM:614844
Renpenning Syndrome	Cataract, Iris coloboma	ORPHA:3242
Pai Syndrome	Encephalocele, Iris coloboma	ORPHA:1993
Collagenoma, Familial Cutaneous	Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con...	OMIM:115250
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vasculitis, Le...	ORPHA:2331
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
Oculoauricular Syndrome	Posterior embryotoxon, Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Mic...	OMIM:612109
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv...	OMIM:616564
Proximal 16P11.2 Microdeletion Syndrome	Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology	ORPHA:261197
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart	ORPHA:2001
Beta-Mercaptolactate Cysteine Disulfiduria	Atrial septal defect, Umbilical hernia, Abnormality of the ureter	ORPHA:1035
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Hypospadias, Cryptorchidism, Patent ductus arteriosus, H...	OMIM:300166
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect, Urinary incontinence	OMIM:620094
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Hepatomegaly, Situs inversus totalis	OMIM:619881
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Aortic dissection	OMIM:135580
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Pate...	OMIM:605275
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Hardikar Syndrome	Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an...	OMIM:301068
Polysyndactyly With Cardiac Malformation	Ventricular septal defect, Renal cyst, Stillbirth, Atrial septal defect, Hepatic cysts	OMIM:263630
Crouzon Syndrome	Hydrocephalus, Conjunctivitis, Iris coloboma	ORPHA:207
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo...	ORPHA:2473
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Fetal Gaucher Disease	Decreased fetal movement, Hydrops fetalis, Fetal akinesia sequence	ORPHA:85212
Joubert Syndrome	Encephalocele, Hydrocephalus, Iris coloboma, Situs inversus totalis	ORPHA:475
Chromosome 18Q Deletion Syndrome	Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Hypo...	OMIM:601808
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,...	OMIM:616843
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl...	OMIM:608149
Faciocardiomelic Syndrome	Common atrium	OMIM:612731
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Iris coloboma	OMIM:268850
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Hypogon...	ORPHA:3306
Unilateral Ocular Duplication	Encephalocele, Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Umb...	OMIM:613177
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis	OMIM:300219
Trisomy 18	Cataract, Ventricular septal defect, Spina bifida, Anencephaly, Microcornea, Holoprosencephaly, A...	ORPHA:3380
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Hydrops fetalis, Single umbilical artery, Increased placental thick...	ORPHA:1865
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Hypospadias, Unilateral renal agenesis, Muscular ventricular septal defect, Patent ductus arterio...	ORPHA:363444
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Femoral-Facial Syndrome	Ventricular septal defect, Maternal diabetes, Cryptorchidism, Micropenis, Polycystic kidney dyspl...	OMIM:134780
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect, Frontal encephalocele	ORPHA:521308
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis	OMIM:613193
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Cataract, Abnormal pulmonary valve morphology, Portal...	ORPHA:974
Hypoglossia With Situs Inversus	Situs inversus totalis, Asplenia, Polysplenia	OMIM:612776
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Cholestasis, Coarctation of aorta, Portal fibrosis, Pulmonic steno...	OMIM:614300
Mitral Valve Prolapse 3	Mitral regurgitation, Mitral valve prolapse	OMIM:610840
Mitral Valve Prolapse 2	Mitral regurgitation, Mitral valve prolapse	OMIM:607829
Mowat-Wilson Syndrome	Cataract, Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary ...	OMIM:235730
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Congen...	ORPHA:2519
Marden-Walker Syndrome	Pulmonary hypoplasia, Dextrocardia	OMIM:248700
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,...	OMIM:236680
Suleiman-El-Hattab Syndrome	Optic disc pallor, Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, A...	OMIM:618950
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrocephalus, Coarctation of aorta, Chorioretinal coloboma, Iris colo...	ORPHA:268249
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch...	OMIM:615504
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Recurren...	OMIM:617751
Bardet-Biedl Syndrome 8	Situs inversus totalis	OMIM:615985
Pelvis-Shoulder Dysplasia	Spina bifida, Hydrocephalus, Microcornea, Retinal coloboma, Hydranencephaly, Iris coloboma	ORPHA:2839
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch...	OMIM:615505
Megalencephaly	Atrial septal defect, Long penis, Macroorchidism	ORPHA:2477
Atrial Septal Defect 9	Secundum atrial septal defect, Bicuspid aortic valve	OMIM:614475
White Forelock With Malformations	Atrial septal defect, Spina bifida occulta	ORPHA:2475
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Iris coloboma, Ectopia lentis	ORPHA:1259
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Trisomy 1Q	Increased nuchal translucency, Hydrocephalus, Hydrops fetalis, Polyhydramnios	ORPHA:261344
Proteus Syndrome	Splenomegaly, Lymphangioma, Venous malformation	OMIM:176920
Duane-Radial Ray Syndrome	Cataract, Ventricular septal defect, Retinal coloboma, Atrial septal defect, Spina bifida occulta...	OMIM:607323
Joubert Syndrome 18	Occipital encephalocele, Ventricular septal defect, Renal cyst, Horseshoe kidney, Intrahepatic bi...	OMIM:614815
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Death in infancy, Ventricular septal defect, Nephrogenic diabetes insipidus...	OMIM:208085
Gorlin Syndrome	Hydrocephalus, Cataract, Iris coloboma	ORPHA:377
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Hydrops fetalis	ORPHA:766
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Atrial septal defect, Umbilic...	OMIM:612582
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis	OMIM:242700
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Perlman Syndrome	Cryptorchidism, Pancreatic islet-cell hyperplasia, Renal hamartoma, Interrupted aortic arch	OMIM:267000
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Death in infancy, Patent ductus arteriosus, Optic disc coloboma...	ORPHA:1790
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida, Mitral valve prolapse	OMIM:211960
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Pulmonary arterial hyperten...	ORPHA:280633
Ciliary Dyskinesia, Primary, 35	Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis	OMIM:617092
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis	OMIM:616738
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Hydronephrosis	OMIM:620327
Ciliary Dyskinesia, Primary, 24	Situs inversus totalis, Bronchiectasis, Recurrent sinusitis	OMIM:615481
Mucopolysaccharidosis Type 7	Umbilical hernia, Ascites, Hydrops fetalis, Lymphedema	ORPHA:584
Teebi Hypertelorism Syndrome 1	Ventricular septal defect, Hydrocele testis, Aortic root aneurysm, Pulmonary hypoplasia, Atrial s...	OMIM:145420
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Absent pulmonar...	OMIM:600460
Omodysplasia 1	Ventricular septal defect, Pulmonary artery stenosis, Popliteal pterygium, Atrial septal defect, ...	OMIM:258315
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, C...	OMIM:620024
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Death in chil...	OMIM:612938
Mirage Syndrome	Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Patent ductus ar...	OMIM:617053
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Vesicoureteral reflux, Abnormal...	ORPHA:453499
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri...	OMIM:612562
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnor...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnor...	ORPHA:353277
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Hydrocele testis, Patent foramen ovale	OMIM:618832
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Patent duct...	ORPHA:251066
Tatton-Brown-Rahman Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Vesicoureteral reflux, Atrial septal defect, U...	OMIM:615879
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil...	OMIM:619656
Developmental And Epileptic Encephalopathy 90	Atrial septal defect, Hypothyroidism	OMIM:301058
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis	OMIM:620365
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse...	OMIM:121050
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Renal hypoplasia, Spinal dysraphism, Hypoplastic left heart, Aortic valve ...	OMIM:617660
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventricular septal defect, Leukemia	OMIM:602501
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Oligomeganephronia	Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag...	ORPHA:2260
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery hypoplasia,...	OMIM:300963
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Cryptorchidism, Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis...	OMIM:618775
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T...	OMIM:611926
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:618870
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, Dysplastic tricuspid valve, Hydrocephalus, Mitral valve prolapse, Right...	OMIM:612863
Temple-Baraitser Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:611816
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Optic atrophy, Vesicoureteral reflux, Atrial septal defect, Patent for...	OMIM:614261
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Ventricular septal defect, Pineal cyst	ORPHA:513456
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Iris coloboma	OMIM:212550
Jacobsen Syndrome	Recurrent respiratory infections, Ventricular septal defect, Hydrocephalus, Microcornea, Holopros...	OMIM:147791
White-Sutton Syndrome	Patent ductus arteriosus, Astigmatism, Atrial septal defect, Intrauterine growth retardation, Pat...	OMIM:616364
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Spina bifida occulta, Transposition of the great arteri...	OMIM:617877
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Optic nerve hyp...	OMIM:609053
Fg Syndrome Type 1	Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Mitral ...	ORPHA:93932
Keutel Syndrome	Peripheral pulmonary artery stenosis, Ventricular septal defect, Hypertension, Pulmonary artery h...	OMIM:245150
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Optic atrophy, Renal cyst, ...	OMIM:614424
Developmental And Epileptic Encephalopathy 93	Iris coloboma	OMIM:618012
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Microphthalmia, Isolated, With Coloboma 9	Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:615145
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Abnormal pulmonary valve morphology, Pulmonary artery stenosis,...	ORPHA:667
Ciliary Dyskinesia, Primary, 18	Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis	OMIM:614874
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Hydrocephalus, Renal corticomedullary cysts, Vasc...	OMIM:219730
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma	ORPHA:2791
Woods Syndrome	Optic atrophy, Ventricular septal defect, Supernumerary nipple	OMIM:615236
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Ciliary Dyskinesia, Primary, 9	Situs inversus totalis, Bronchiectasis, Pneumonia, Recurrent sinusitis	OMIM:612444
Pseudo-Torch Syndrome 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus arteriosus, Jaundice, Umbilical he...	OMIM:251290
Triple A Syndrome	Iris coloboma	ORPHA:869
Stevenson-Carey Syndrome	Atrial septal defect, Left superior vena cava draining to coronary sinus	OMIM:611961
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog...	OMIM:618748
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C...	OMIM:612541
Tarp Syndrome	Subdural hemorrhage, Optic atrophy, Horseshoe kidney, Neonatal death, Atrial septal defect, Tetra...	OMIM:311900
Chops Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Splenomegaly, Optic atrophy,...	OMIM:616368
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Iris coloboma, Chorioretinal coloboma	ORPHA:2318
Gaucher Disease, Type Ii	Double aortic arch	OMIM:230900
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Patent ductus a...	OMIM:603467
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Occipital meningocele	OMIM:616546
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Hypospadias, Repeated pneumothoraces, Cryptorchidism, Coarctation of a...	OMIM:617602
Distal Duplication 18Q	Iris coloboma	ORPHA:1716
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor...	ORPHA:435638
Warsaw Breakage Syndrome	Optic disc coloboma, Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Abnor...	OMIM:617397
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Coloboma, Ventricular septal defect, Holoprosencephaly, Anterior encephalocele	OMIM:601357
Noonan Syndrome	Pulmonary artery stenosis, Arrhythmia, Abnormal pulmonary valve morphology	ORPHA:648
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Frontorhiny	Encephalocele, Cataract, Basal encephalocele, Cranium bifidum occultum, Iris coloboma	ORPHA:391474
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect	ORPHA:398156
Hamel Cerebro-Palato-Cardiac Syndrome	Atrial septal defect, Death in infancy	ORPHA:93946
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Unilateral renal...	OMIM:620305
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
Combined Oxidative Phosphorylation Deficiency 40	Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis	OMIM:618835
Even-Plus Syndrome	Atrial septal defect, Patent foramen ovale, Vesicoureteral reflux, Renal hypoplasia	OMIM:616854
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Bronchiectasis	OMIM:614017
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricu...	OMIM:619167
Combined Oxidative Phosphorylation Deficiency 42	Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis	OMIM:618839
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Nephrocalcinosis, Neutropenia, Atrial septal defect, Recurrent lower re...	OMIM:618005
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Nephrocalcinosis, Diabetes insipidus	ORPHA:500533
Frontoocular Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:605321
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Patent foramen ovale	OMIM:617182
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch...	OMIM:615500
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Ventricular septal defect, Ectopic kidney,...	OMIM:164210
Diets-Jongmans Syndrome	Heterotaxy, Interrupted inferior vena cava with azygous continuation, Umbilical hernia, Ventricul...	OMIM:618846
Seizures-Scoliosis-Macrocephaly Syndrome	Atrial septal defect, Cryptorchidism	ORPHA:466926
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Recurrent pneumonia, Mitral valve prolapse, Abnormality of the brachial nerve plexus, Aortic diss...	ORPHA:1900
Jacobsen Syndrome	Recurrent respiratory infections, Cataract, Ventricular septal defect, Spina bifida, Coarctation ...	ORPHA:2308
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pleural lymphangiectasia, Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney...	OMIM:235510
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A...	ORPHA:1677
Filippi Syndrome	Cryptorchidism, Optic atrophy, Ventricular septal defect	OMIM:272440
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Horseshoe kidney	OMIM:613680
Acalvaria	Spina bifida, Hydrocephalus, Abnormal lung lobation, Cleft palate, Holoprosencephaly	ORPHA:945
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A...	ORPHA:555874
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Large placenta, Pulmonary artery stenosis, Abnormal aortic arch morpho...	ORPHA:96334
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Chronic kidney disease, Cho...	OMIM:615630
Congenital Tracheal Stenosis	Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lung mo...	ORPHA:141127
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Abnormal cerebral vascular morphology, Precocious puberty, Pate...	ORPHA:2637
Achondrogenesis, Type Ii	Polyhydramnios, Hydrops fetalis, Edema	OMIM:200610
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Decreased response to growth hormone stimulation test, Abnormal lung l...	OMIM:614114
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Tetraamelia-Multiple Malformations Syndrome	Cataract, Hydrocephalus, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Microcornea, Ir...	ORPHA:3301
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect, Nephrocalcinosis, Diabetes insipidus	OMIM:611087
Congenital Disorder Of Glycosylation, Type Id	Iris coloboma	OMIM:601110
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Recurrent sinusitis	OMIM:612518
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in urine, Thrombocytopen...	ORPHA:505248
Hallermann-Streiff Syndrome	Recurrent respiratory infections, Cataract, Spina bifida, Recurrent pneumonia, Optic disc colobom...	OMIM:234100
20P12.3 Microdeletion Syndrome	Atrial septal defect	ORPHA:261295
Buratti-Harel Syndrome	Dilation of Virchow-Robin spaces, Hypospadias, Cryptorchidism, Recurrent pneumonia, Atrial septal...	OMIM:619314
Platyspondylic Dysplasia, Torrance Type	Hydrops fetalis, Polyhydramnios	ORPHA:85166
Lambotte Syndrome	Intrauterine growth retardation, Ocular anterior segment dysgenesis, Ventricular septal defect, S...	OMIM:245552
Thanatophoric Dysplasia Type 1	Atrial septal defect, Patent ductus arteriosus, Hydrocephalus, Aplasia/Hypoplasia of the lungs	ORPHA:1860
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart	ORPHA:2772
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Snijders Blok-Campeau Syndrome	Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:618205
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in...	OMIM:619632
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Iris coloboma	OMIM:155145
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Supernumerary nipple, Secundum atria...	OMIM:619951
Coffin-Siris Syndrome 5	Atrial septal defect	OMIM:616938
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect	ORPHA:40366
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:620197
Seckel Syndrome 9	Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ...	OMIM:616777
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema	OMIM:607823
Cohen Syndrome	Chorioretinal dystrophy, Ventricular septal defect, Mitral valve prolapse, Intrauterine growth re...	ORPHA:193
Walker-Warburg Syndrome	Cataract, Corneal opacity, Chorioretinal dysplasia, Hydrocephalus, Microcornea, Iris coloboma	ORPHA:899
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, Pulmonary hypoplasia, Pa...	OMIM:616866
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Atelectasis, Patent ductus arteriosus, Hydrocephalus, An...	OMIM:269860
Shashi-Pena Syndrome	Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Unilateral rena...	OMIM:617190
Potocki-Lupski Syndrome	Atrial septal defect, Hypothyroidism, Patent foramen ovale	OMIM:610883
Fraser Syndrome 3	Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Hydrocephalus, Ascites, Olig...	OMIM:617667
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Umbilical hernia, ...	ORPHA:536545
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal jugular vein morphology, Increased pulmonary vascular resistanc...	ORPHA:275766
Hypothyroidism, Congenital, Nongoitrous, 5	Thyroid agenesis, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,...	OMIM:225250
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Iris coloboma	ORPHA:220497
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Portal hypertension, Hydrocephalus, Optic disc coloboma, Chorioretinal c...	ORPHA:1454
Ciliary Dyskinesia, Primary, 12	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis	OMIM:612650
Opitz Gbbb Syndrome	Enlarged ovaries, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosu...	ORPHA:2745
Kaposi Sarcoma	Generalized lymphadenopathy, Venous insufficiency, Abnormality of the spleen, Abnormal lung morph...	ORPHA:33276
Hajdu-Cheney Syndrome	Recurrent respiratory infections, Cataract, Mitral stenosis, Ventricular septal defect, Patent du...	ORPHA:955
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos...	OMIM:194050
Ciliary Dyskinesia, Primary, 32	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis	OMIM:616481
Tyshchenko Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Pulmonic stenosis, Atrial septal...	OMIM:615102
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re...	OMIM:608647
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Atrial septal defect, Hepatosplenomegaly, Patent ductus arteriosus, Oligosacchariduria	ORPHA:397709
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Precocious puberty	OMIM:619356
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Conotruncal defect, Coarctation of aort...	ORPHA:96147
Intellectual Disability-Strabismus Syndrome	Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s...	ORPHA:363528
Branchio-Oculo-Facial Syndrome	Cataract, Microcornea, Coloboma, Intrauterine growth retardation, Iris coloboma	ORPHA:1297
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art...	OMIM:609192
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Cardiogenic shock, Myofib...	OMIM:619424
Acro-Renal-Ocular Syndrome	Cataract, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal coloboma, Tetralogy of Fallot...	ORPHA:959
Houge-Janssens Syndrome 3	Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect	OMIM:618354
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Ocular anterior segment dysgenesis, Iris coloboma	OMIM:601427
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Cholestasis, Progressive Familial Intrahepatic, 5	Pleural effusion, Ascites, Nonimmune hydrops fetalis	OMIM:617049
Oculocerebrocutaneous Syndrome	Hydrocephalus, Corneal opacity, Iris coloboma	ORPHA:1647
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Steinfeld Syndrome	Holoprosencephaly, Retinal coloboma, Iris coloboma, Abnormal heart morphology	OMIM:184705
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Hepatomegaly, Death in infancy, Ventricular septal defect, Proteinuria, Nep...	OMIM:613404
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect, Hypothyroidism	OMIM:619908
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Bronchiectasis, Pulmonic ste...	OMIM:618282
Distal Xq28 Microduplication Syndrome	Hypothyroidism, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent fo...	ORPHA:293939
Lateral Meningocele Syndrome	Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent duct...	OMIM:130720
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch...	OMIM:614935
Marden-Walker Syndrome	Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th...	ORPHA:2461
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl...	OMIM:157800
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple	ORPHA:46627
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car...	OMIM:208000
Stromme Syndrome	Cataract, Sclerocornea, Hydrocephalus, Microcornea, Stillbirth, Peters anomaly, Iris coloboma	OMIM:243605
Combined Oxidative Phosphorylation Deficiency 9	Hepatic steatosis, Hepatomegaly, Tubulointerstitial nephritis, Death in childhood, Hypertrophic c...	OMIM:614582
Al-Raqad Syndrome	Atrial septal defect	OMIM:616459
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ascending tubular aorta aneurysm, Macroorchidism, Ventricular septal defect	OMIM:309520
Duane Retraction Syndrome	Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret...	ORPHA:233
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abnormal heart m...	ORPHA:485405
Campomelia, Cumming Type	Oligohydramnios, Hydrops fetalis, Lymphedema	ORPHA:1318
Mitral Valve Prolapse 1	Mitral regurgitation, Mitral valve prolapse	OMIM:157700
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Basal Cell Nevus Syndrome 1	Cataract, Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Iris coloboma	OMIM:109400
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Recurrent respiratory infections, Cough	ORPHA:2314
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri...	OMIM:609942
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent upper respiratory tract inf...	OMIM:614868
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Abnormal mesentery morphology, Re...	ORPHA:2256
Zechi-Ceide Syndrome	Atrial septal defect, Abnormal heart morphology	ORPHA:217017
Restrictive Dermopathy	Dextrocardia, Large placenta, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transpo...	ORPHA:1662
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Tetraamelia Syndrome 2	Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega...	OMIM:614921
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Kabuki Syndrome 2	Horseshoe kidney, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Atrioventricular...	OMIM:300867
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Recurrent respiratory infections, V...	ORPHA:209905
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Pulmonic stenosis	OMIM:619239
Aase-Smith Syndrome I	Death in infancy, Hydrocephalus, Ventricular septal defect	OMIM:147800
Schneckenbecken Dysplasia	Umbilical hernia, Nonimmune hydrops fetalis, Polyhydramnios	OMIM:269250
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Optic disc coloboma, Coloboma, Atrial septal defect, Iris coloboma	ORPHA:251014
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Ascites, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence	ORPHA:367
7Q31 Microdeletion Syndrome	Recurrent respiratory infections, Patent ductus arteriosus after birth at term, Enuresis nocturna...	ORPHA:251061
Cardiac-Valvular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec...	ORPHA:230851
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation	ORPHA:3214
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypoplas...	OMIM:620025
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Hypospadias, Abnormal pulmonary valve morphology, Cryptorchidism...	ORPHA:500
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Holoprosencephaly, Pulmonary hypoplasia, Situs inversus totalis	OMIM:202650
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Mitral valve prolapse	OMIM:618874
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Ch...	OMIM:613808
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease, Patent foramen ovale	OMIM:618821
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Marfan Syndrome	Pulmonary artery dilatation, Mitral valve calcification, Flat cornea, Spontaneous pneumothorax, L...	ORPHA:558
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula...	ORPHA:459070
Oculoectodermal Syndrome	Transient ischemic attack, Supernumerary nipple, Patent ductus arteriosus, Coarctation of aorta, ...	OMIM:600268
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Patent foramen ovale	OMIM:615156
Gm1 Gangliosidosis	Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Patent ductus arterios...	ORPHA:354
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Baraitser-Winter Cerebrofrontofacial Syndrome	Transient ischemic attack, Optic disc coloboma, Microcornea, Heterochromia iridis, Iris coloboma	ORPHA:2995
Goldberg-Shprintzen Megacolon Syndrome	Iris coloboma	ORPHA:66629
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Death in infancy, Ventricular septal defect, Eosinophilia, Spina bifida, Pa...	OMIM:274000
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Recurrent respiratory infections, Hepatomegaly, Optic atrophy, Atrial septal defect, Hypertrophic...	OMIM:619383
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Transposition of the great arteries, Tetr...	ORPHA:1780
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Perimembranous ventricular sept...	OMIM:158170
Dohle Bodies And Leukemia	Secundum atrial septal defect	OMIM:223350
Coffin-Siris Syndrome 6	Atrial septal defect	OMIM:617808
Serkal Syndrome	Abnormality of the adrenal glands, Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Periventricular Nodular Heterotopia 7	Cryptorchidism, Ventricular septal defect, Optic disc pallor	OMIM:617201
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Lujan-Fryns Syndrome	Atrial septal defect, Macroorchidism	ORPHA:776
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horse...	ORPHA:166035
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Abnormal heart valve morphology, Corneal opacity, Posterior subcapsular ca...	ORPHA:536471
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Patent ductus arteriosus, Hydrocephalus, Atrial sep...	OMIM:618162
Distal Deletion 10Q	Patent ductus arteriosus, Functional abnormality of the bladder, Spina bifida occulta, Vesicouret...	ORPHA:96148
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Recurrent respiratory infections, Intestinal obstruction, Ventricular septal defect, Intestinal m...	OMIM:243150
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Ascending aorta hypoplasia, Micropenis, Pe...	OMIM:619503
Joubert Syndrome 3	Atrial septal defect, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Tubulointerstitial nephritis, Enuresis, Atrial septal defect, Aortic valve stenosis	ORPHA:459061
Fanconi Anemia	Leukopenia, Abnormality of the liver, Atrial septal defect, Abnormality of the hypothalamus-pitui...	ORPHA:84
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Iris coloboma	OMIM:147950
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Umbilical hernia, Patent fo...	ORPHA:369891
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Vesic...	OMIM:610443
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Peters Plus Syndrome	Cataract, Corneal opacity, Patent ductus arteriosus, Bicuspid pulmonary valve, Hydrocephalus, Mic...	ORPHA:709
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Atrioventricula...	OMIM:619123
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Optic atrophy, Congenital...	ORPHA:79500
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation	ORPHA:60015
Tetrasomy 9P	Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Jaundice, B...	ORPHA:3310
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation, Cerebral berry aneurysm, Mitral valve prolapse	OMIM:173900
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Combined Oxidative Phosphorylation Deficiency 57	Nonimmune hydrops fetalis, Fetal pleural effusion	OMIM:620167
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Optic ...	OMIM:618454
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
Coffin-Siris Syndrome	Ventricular septal defect, Hypospadias, Hepatoblastoma, Cryptorchidism, Patent ductus arteriosus,...	ORPHA:1465
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Patent ductus arteriosus	OMIM:602482
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Chronic noni...	ORPHA:97289
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Stormorken Syndrome	Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like episode, Hy...	OMIM:185070
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Abnormal lung lobation, Coarctation of aorta, Acute lymphoblastic l...	ORPHA:1052
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Neurocardiofaciodigital Syndrome	Optic disc pallor, Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ventricle, ...	OMIM:619869
Zaki Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hydronephrosis	OMIM:619648
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect	OMIM:612527
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula...	OMIM:615474
Tarp Syndrome	Extramedullary hematopoiesis, Cryptorchidism, Optic atrophy, Horseshoe kidney, Pulmonary hypoplas...	ORPHA:2886
Sotos Syndrome	Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Patent ductus arte...	OMIM:117550
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Tethered cord, Abnormal heart valve morphology, Sclerocornea, A...	ORPHA:280
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Holoprosencephaly, Chorioretinal coloboma, Umbilical hernia, Patent fo...	OMIM:613884
Orofaciodigital Syndrome V	Recurrent respiratory infections, Unilateral cryptorchidism, Ventricular septal defect, Aganglion...	OMIM:174300
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Proboscis Lateralis	Cataract, Ventricular septal defect, Corneal opacity, Patent ductus arteriosus, Optic disc colobo...	ORPHA:141099
Cranioectodermal Dysplasia 3	Peripheral pulmonary artery stenosis	OMIM:614099
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Death in infancy, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic l...	OMIM:235255
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal...	OMIM:610733
Gaucher Disease, Perinatal Lethal	Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Desquamatio...	OMIM:608013
Lymphatic Malformation 13	Patent ductus arteriosus, Hydrocele testis, Neonatal death, Atrial septal defect, Patent foramen ...	OMIM:620244
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis	OMIM:618265
Mogs-Cdg	Absent brainstem auditory responses, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Optic atrophy,...	ORPHA:79330
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:745
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve	OMIM:619721
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Functional abnormality of the bladder, T lymphocytopenia,...	ORPHA:391487
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
Microphthalmia, Lenz Type	Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:568
Curry-Jones Syndrome	Optic disc coloboma, Iris coloboma	ORPHA:1553
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def...	ORPHA:538
Mitochondrial Trifunctional Protein Deficiency 1	Abnormality of the amniotic fluid, Hydrops fetalis	OMIM:609015
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Co...	OMIM:249000
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Death in infancy, Optic neuropathy, Patent ductus arteriosus, Dilated cardiomyopath...	OMIM:610505
17Q12 Microduplication Syndrome	Atrial septal defect	ORPHA:261272
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Nonimmune hydrops fetalis	OMIM:266200
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
White-Sutton Syndrome	Astigmatism, Iris coloboma, Abnormal heart morphology	ORPHA:468678
Chromosome 10Q26 Deletion Syndrome	Cryptorchidism, Patent ductus arteriosus, Vesicoureteral reflux, Atrial septal defect, Micropenis	OMIM:609625
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Ventricular septal defect, Hypo...	OMIM:214100
Scleromyxedema	Abnormal coronary artery morphology, Transient ischemic attack, Raynaud phenomenon, Abnormal lung...	ORPHA:167635
17Q23.1Q23.2 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:261279
Intellectual Developmental Disorder, Autosomal Recessive 65	Hypospadias, Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, Atrial septal d...	OMIM:618109
Myopathy With Extrapyramidal Signs	Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukocytosis, Optic atrophy	OMIM:615673
Gm1-Gangliosidosis, Type I	Intrauterine growth retardation, Hydrops fetalis	OMIM:230500
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp...	OMIM:615830
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri...	OMIM:614976
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Micropenis, Ventricular septal defect, Unilateral renal agenesis	OMIM:618504
Mucopolysaccharidosis, Type Vii	Umbilical hernia, Hydrocephalus, Hydrops fetalis	OMIM:253220
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Bronchiectasis	OMIM:615434
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Cryptorchidism, Ventricular septal defect	OMIM:617452
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Achondrogenesis, Type Ia	Increased nuchal translucency, Hydrops fetalis, Polyhydramnios, Absence of stomach bubble on feta...	OMIM:200600
Nizon-Isidor Syndrome	Iris coloboma	OMIM:618872
Autosomal Recessive Robinow Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular ...	ORPHA:1507
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Ascites, Hydrops fetalis	OMIM:614091
Noonan Syndrome 5	Atrial septal defect, Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:611553
Osteogenesis Imperfecta, Type Ii	Premature birth, Nonimmune hydrops fetalis	OMIM:166210
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Cataract, Ventricular septal defect, Bicuspid aortic valve, Congestive hear...	OMIM:619475
3Mc Syndrome 1	Ventricular septal defect, Supernumerary nipple, Patent ductus arteriosus, Atrial septal defect, ...	OMIM:257920
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve	OMIM:619720
Hajdu-Cheney Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Umbilical hernia, Iris coloboma	OMIM:102500
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en...	ORPHA:95459
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Atrial septal defect, Hyposegmentation of neutrophil nuclei, Patent foramen ovale	OMIM:620075
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar...	ORPHA:97214
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Recurrent respiratory infections, Abnormality of thyroid physiology, Patent ductus arteriosus, At...	OMIM:300968
Severe X-Linked Intellectual Disability, Gustavson Type	Vesicoureteral reflux, Optic atrophy, Ventricular septal defect, Recurrent upper respiratory trac...	ORPHA:3078
Ramos-Arroyo Syndrome	Atrial septal defect, Patent ductus arteriosus, Aganglionic megacolon, Abnormal autonomic nervous...	ORPHA:1051
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Hypospadias, Aortic root aneurysm, Chordee, Type II diabetes mellitus, Delayed puberty, Atrial se...	OMIM:618891
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Bilateral cr...	OMIM:613457
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, At...	ORPHA:254346
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Smith-Lemli-Opitz Syndrome	Cataract, Ventricular septal defect, Sclerocornea, Patent ductus arteriosus, Abnormal lung lobati...	ORPHA:818
Schisis Association	Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Anal atresia	ORPHA:63862
Phocomelia, Schinzel Type	Intrauterine growth retardation, Meningocele, Hydrops fetalis	ORPHA:2879
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Recurrent upper respiratory tract infectio...	OMIM:607143
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arte...	OMIM:610759
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Recurrent respiratory infections, Ventricular septal defect, Thyroid agenesis...	ORPHA:3047
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Patent foramen ovale, Mitral valve prolapse	OMIM:615539
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas...	OMIM:258900
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Hypospadias, Supernumerary nipple, Patent ductus arteriosus, Micropenis	OMIM:106260
Scalp-Ear-Nipple Syndrome	Cataract, Cardiac myxoma, Congestive heart failure, Developmental cataract, Anisocoria, Hypertens...	OMIM:181270
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Lymphangioma, Arteriovenous malformation	ORPHA:137608
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in infancy, Ventricular septal defect, Proteinuria, Hematuria, Tubulointerstitial nephritis...	OMIM:616901
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele, Iris coloboma	OMIM:601707
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus ...	ORPHA:96121
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Ureteral hypoplasia, Patent ductus arteriosus, Vesicoureteral reflux, Hydro...	OMIM:614080
Diamond-Blackfan Anemia	Acute myeloid leukemia, Radial artery aplasia, Ventricular septal defect, Hypospadias, Pure red c...	ORPHA:124
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Cataract, Ventricular septal defect, Abnormal pulmonary valve morphology, A...	ORPHA:268261
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Pituitary growth hormone cell adenoma, Polycystic liver disease, Hepatic cys...	ORPHA:730
Netherton Syndrome	Recurrent respiratory infections, Emphysema, Asthma	ORPHA:634
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Mitral valve prolapse, Aortic root aneurysm, ...	OMIM:245600
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect	ORPHA:505237
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Left ...	ORPHA:464738
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Death in infancy, Ventricular septal defect, Hypospad...	ORPHA:912
Wiedemann-Steiner Syndrome	Atrial septal defect, Cryptorchidism, Patent ductus arteriosus	OMIM:605130
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Vesico...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Vesico...	ORPHA:363958
Homozygous Familial Hypercholesterolemia	Premature arteriosclerosis, Angina pectoris, Sudden cardiac death, Myocardial infarction, Precoci...	ORPHA:391665
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Optic disc pallor, Ventricular septal defect, Coarctation of aorta	OMIM:244450
Familial Multiple Nevi Flammei	Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage, Abnormal cranial nerve...	ORPHA:624
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Recurrent respiratory infections, Optic disc coloboma, Pulmonary arterial hyperte...	OMIM:620186
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:614609
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Precocious puberty, Patent ductus arteriosus, Abnormal lung lobation, Hyperca...	ORPHA:369837
S-Adenosylhomocysteine Hydrolase Deficiency	Hydrops fetalis	ORPHA:88618
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Emphysema	OMIM:219100
Farber Disease	Joint swelling, Ascites, Hydrops fetalis	ORPHA:333
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Hypoplastic aortic arch, Optic nerve hypoplasia, Unilateral renal agenesis	ORPHA:457284
Intellectual Developmental Disorder, Autosomal Dominant 47	Cryptorchidism, Ventricular septal defect, Supernumerary nipple	OMIM:617635
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Umbilical hernia, Patent foramen ovale, Renal hypoplasia, Pulmonic stenosis	OMIM:618914
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Spina bifida occulta, Ventricular septal defect	OMIM:617360
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Marfan Syndrome	Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Bicuspid aortic valve...	OMIM:154700
Aica-Ribosuria Due To Atic Deficiency	Secundum atrial septal defect, Optic atrophy, Elevated urinary 5-amino-4-imidazolecarboxamide-rib...	OMIM:608688
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:743
Insulin-Like Growth Factor I, Resistance To	Diabetes mellitus, Ventricular septal defect, Increased circulating insulin-like growth factor 1 ...	OMIM:270450
Hypocomplementemic Urticarial Vasculitis	Dyspnea, Emphysema, Restrictive ventilatory defect, Cough, Pleural effusion, Airway obstruction	ORPHA:36412
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Umbilical hernia, Abnormality of the ureter, Ventricular septal defect, Polycystic ovaries	ORPHA:1770
Robinow Syndrome	Decreased serum testosterone concentration, Multicystic kidney dysplasia, Ventricular septal defe...	ORPHA:97360
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M...	ORPHA:555877
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Renal cortical cysts, Renal cyst, Coarctation of aor...	ORPHA:1692
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Galactosialidosis	Nonimmune hydrops fetalis	OMIM:256540
Filippi Syndrome	Cryptorchidism, Optic atrophy, Ventricular septal defect, Supernumerary nipple	ORPHA:3255
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology	ORPHA:1292
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Chylothorax, Tetralogy of Fa...	OMIM:153400
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Reticuloc...	OMIM:613309
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Abnormal heart morphology...	ORPHA:457279
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Abnormal medullary pyramid morphology, Recurrent aspiration pneumonia	ORPHA:79243
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Absence of renal corticomedullary differentiation, Secundum atr...	OMIM:619758
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Hypospadias, Ventricular septal ...	OMIM:614866
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia	OMIM:619980
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Patent foramen ovale, Patent duc...	OMIM:620005
Gm1 Gangliosidosis Type 1	Intrauterine growth retardation, Hydrops fetalis, Abnormal placenta morphology	ORPHA:79255
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis	OMIM:226100
Toriello-Carey Syndrome	Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Cardiomyop...	ORPHA:3338
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata...	OMIM:619705
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Noonan Syndrome 7	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613706
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Alazami Syndrome	Atrial septal defect	ORPHA:319671
Greenberg Dysplasia	Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha...	OMIM:215140
Wildervanck Syndrome	Meningocele, Facial palsy, Pseudopapilledema	ORPHA:3456
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Nonimmune hydrops fetalis, Lymphedema	OMIM:137940
Common Variable Immunodeficiency	Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph...	ORPHA:1572
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hypospadias, Ventricular septal defect, Increased mean platelet volume, Large place...	OMIM:222470
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine...	ORPHA:438213
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Loeys-Dietz Syndrome 5	Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec...	OMIM:615582
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Cataract, Patent ductus arteriosus, Iris coloboma	ORPHA:861
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Proteus-Like Syndrome	Communicating hydrocephalus, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality ...	ORPHA:2969
King-Denborough Syndrome	Bilateral cryptorchidism, Cryptorchidism, Ventricular septal defect	OMIM:619542
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,...	OMIM:175050
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri...	OMIM:612098
Cerebrocostomandibular Syndrome	Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi...	ORPHA:1393
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Ectopic kidney, Cryptorchidism, Patent ductus arteriosus, Atrial septa...	ORPHA:1519
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr...	ORPHA:363618
Dysosteosclerosis	Optic atrophy, Ventricular septal defect, Abnormal cranial nerve morphology	ORPHA:1782
Capillary Malformation-Arteriovenous Malformation	Chylothorax, Hydrocephalus, Nonimmune hydrops fetalis, Lymphedema	ORPHA:137667
Larsen Syndrome	Ventricular septal defect, Cryptorchidism, Atrial septal defect, Spina bifida occulta, Aortic ane...	OMIM:150250
Angioosteohypotrophic Syndrome	Prominent superficial veins, Venous malformation	ORPHA:75508
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta, Uni...	OMIM:619480
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Optic nerve hypoplasia, C...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Optic nerve hypoplasia, C...	ORPHA:352665
C Syndrome	Hepatomegaly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Renal cortical...	OMIM:211750
Smith-Lemli-Opitz Syndrome	Abnormal lung lobation, Renal cyst, Holoprosencephaly, Atrial septal defect, Micropenis, Hepatic ...	OMIM:270400
Constricting Bands, Congenital	Encephalocele, Abnormal lung lobation, Ectopia cordis, Bladder exstrophy	OMIM:217100
Cooper-Jabs Syndrome	Umbilical hernia, Ventricular septal defect	ORPHA:1488
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Papilledema, Hepatomegaly, Abnormal heart valve morphology, Abnormal...	ORPHA:580
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Atrial septal defect, Mitral valve prolapse	OMIM:300986
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira...	ORPHA:258
16P13.11 Microdeletion Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Holoprosencephaly	ORPHA:261236
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormalit...	ORPHA:79329
Fibrochondrogenesis 1	Hydrops fetalis	OMIM:228520
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Ventricular septal defect, Lens luxation, Ectopia lentis, Congestive hear...	OMIM:608328
Alg9-Cdg	Hepatomegaly, Ventricular septal defect, Ureteral hypoplasia, Hepatic cysts, Pericardial effusion...	ORPHA:79328
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Pancreatic lymphangiectasis, Cryptorchidism, Splenomegal...	ORPHA:1655
Gabriele-De Vries Syndrome	Aortopulmonary collateral arteries, Cryptorchidism, Ureteropelvic junction obstruction, Patent fo...	OMIM:617557
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, Recurrent pneumonia, Atrial septal defect, Hydronephrosis	OMIM:616449
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial effusion, Jaundice, Dilated cardi...	ORPHA:26793
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Long penis, Nephrolit...	OMIM:135500
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect	ORPHA:96190
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Cryptorchidism, Patent ductus arteriosus, Ves...	OMIM:616894
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys...	OMIM:618460
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Secundum atrial septal defect, Recurrent lower respiratory tract infections, Diabetes mellitus	OMIM:620194
Kleefstra Syndrome 1	Recurrent respiratory infections, Hypospadias, Cryptorchidism, Conotruncal defect, Micropenis	OMIM:610253
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Intrauterine growth retardation, Hydrocephalus, Hydrops fetalis, Dehydration	ORPHA:79282
Al Kaissi Syndrome	Atrial septal defect	OMIM:617694
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Mandibulofacial Dysostosis-Microcephaly Syndrome	Atrial septal defect	ORPHA:79113
Noonan Syndrome 13	Atrial septal defect, Cryptorchidism, Mitral valve prolapse	OMIM:619087
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Brachydactyly, Type B1	Micropenis, Ventricular septal defect	OMIM:113000
Meckel Syndrome, Type 2	Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Intrauterine growt...	OMIM:603194
Foix-Alajouanine Syndrome	Neurogenic bladder, Urinary incontinence, Myelopathy, Functional abnormality of the bladder, Cerv...	ORPHA:79093
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect	OMIM:619115
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly	ORPHA:588
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Mitral valve calcification, Pancytopenia, Aortic valve calcification, Hydrocephalus,...	ORPHA:2072
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm	ORPHA:96201
Congenital Myopathy 22B, Severe Fetal	Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech presentation, Pleural...	OMIM:620369
Fetal Akinesia Deformation Sequence 1	Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine...	OMIM:208150
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Isolated Posterior Meningocele	Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia, Occipital meni...	ORPHA:268810
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfat...	ORPHA:217085
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Ventricular septal defect, Facial palsy, Patent ductus arteriosus, ...	OMIM:300373
Weill-Marchesani Syndrome 1	Cataract, Ventricular septal defect, Ectopia lentis, Patent ductus arteriosus, Microspherophakia,...	OMIM:277600
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Spondylo-Ocular Syndrome	Cataract, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Iris hypopigmentation	ORPHA:85194
Autosomal Recessive Spondylocostal Dysostosis	Meningocele, Anomalous pulmonary venous return, Cleft palate, Umbilical hernia, Spina bifida occu...	ORPHA:2311
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Semilobar holoprosencephaly, H...	OMIM:157170
10Q22.3Q23.3 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Breast aplasia, Tricuspid valve prolapse	ORPHA:276413
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Caudal Duplication	Myelomeningocele, Intestinal duplication, Spina bifida	ORPHA:1756
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Cryptorchidism, Hydrocephalus, Optic atrophy, Pulmonic stenosis,...	ORPHA:1340
Neu-Laxova Syndrome 1	Hydranencephaly, Ventricular septal defect, Spina bifida, Cryptorchidism, Patent ductus arteriosu...	OMIM:256520
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy	OMIM:619121
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Bilateral cryptorchidism, Pneumothorax, Micropenis, Ascending tubular ao...	OMIM:617403
Codas Syndrome	Extrahepatic biliary duct atresia, Hydroureter, Ventricular septal defect	ORPHA:1458
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydrocephalus, Renal cyst, Pulmonic st...	OMIM:257300
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Pleural effusion, Recurrent pneumonia, Cough	OMIM:306400
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect	OMIM:614526
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfat...	ORPHA:217093
Sweeney-Cox Syndrome	Bilateral cryptorchidism, Patent ductus arteriosus, Patent foramen ovale, Asplenia	OMIM:617746
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect, Chronic neutropen...	ORPHA:500095
Fontaine Progeroid Syndrome	Atrial septal defect, Prominent superficial veins, Absent nipple, Bicuspid aortic valve, Death in...	OMIM:612289
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Holoprosencephaly, Pulmonary hyp...	OMIM:612530
Wolf-Hirschhorn Syndrome	Rieger anomaly, Tethered cord, Ventricular septal defect, Hydrocephalus, Ectopia pupillae, Atrial...	OMIM:194190
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Cryptorchidism, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Intellectual Developmental Disorder, Autosomal Recessive 72	Secundum atrial septal defect	OMIM:618665
Alg12-Cdg	Recurrent respiratory infections, Decreased serum insulin-like growth factor 1, Hypospadias, Cryp...	ORPHA:79324
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Neuroocular Syndrome	Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ...	OMIM:619539
Poland Syndrome	Encephalocele, Diabetes mellitus, Hypospadias, Dextrocardia, Cryptorchidism, Vesicoureteral reflu...	ORPHA:2911
Multiple Pterygium Syndrome, Escobar Variant	Decreased fetal movement, Umbilical hernia, Hydrops fetalis	OMIM:265000
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Hydrocephalus, Optic nerve dysplasia, Pulmonic stenosis, Atrial septal defect, Hype...	OMIM:115150
Anemia, Congenital Dyserythropoietic, Type Ia	Hydrops fetalis	OMIM:224120
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Ventricular sept...	OMIM:163950
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis	OMIM:602522
Juvenile Polyposis Of Infancy	Refractory anemia, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect, Anemia	ORPHA:79076
Hughes-Stovin Syndrome	Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ...	ORPHA:228116
Congenital Disorder Of Glycosylation, Type Ia	Pericardial effusion, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema	OMIM:212065
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Iris coloboma	OMIM:605627
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Anomalous pulmonary venous return,...	ORPHA:99104
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly	ORPHA:2211
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro...	OMIM:619991
Microphthalmia, Syndromic 3	Optic nerve aplasia, Ventricular septal defect, Anterior pituitary hypoplasia, Hypospadias, Hypog...	OMIM:206900
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchid...	ORPHA:464311
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Ventricular septal defect, Epispadias, Patent ductus arteriosus, Cryptor...	OMIM:615948
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Marshall-Smith Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Pate...	OMIM:602535
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect...	OMIM:607872
Kury-Isidor Syndrome	Ventricular septal defect, Hydronephrosis	OMIM:619762
Camptodactyly Syndrome, Guadalajara Type 1	Intrauterine growth retardation, High palate, Spina bifida	ORPHA:1327
Proximal Spinal Muscular Atrophy	Atrial septal defect, Facial diplegia, Recurrent aspiration pneumonia, Recurrent infections due t...	ORPHA:70
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia, Venous malformation, Spinal dysraphism	OMIM:612918
Neurodevelopmental Disorder With Spasticity And Poor Growth	Vesicoureteral reflux, Recurrent respiratory infections, Patent ductus arteriosus, Patent foramen...	OMIM:618076
Adnp Syndrome	Recurrent upper respiratory tract infections, Astigmatism, Umbilical hernia, Juvenile cataract, I...	ORPHA:404448
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia	OMIM:207950
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, ...	OMIM:210710
Milroy Disease	Varicose veins, Abnormal venous morphology	ORPHA:79452
Bardet-Biedl Syndrome 20	Papilledema, Proteinuria, Bilateral cryptorchidism, Atrial septal defect, Male hypogonadism, Micr...	OMIM:619471
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia	OMIM:600145
Costello Syndrome	Renal insufficiency, Ventricular septal defect, Hydrocephalus, Pneumothorax, Mitral valve prolaps...	OMIM:218040
Kabuki Syndrome 1	Hemolytic anemia, Crossed fused renal ectopia, Ventricular septal defect, Premature thelarche, Au...	OMIM:147920
Dubowitz Syndrome	Hypoplasia of the iris, Intrauterine growth retardation, Megalocornea, Iris coloboma	OMIM:223370
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Mungan Syndrome	Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:611376
Renpenning Syndrome 1	Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypoplasia, Death...	OMIM:309500
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Patent ductus arteriosus, Recurrent...	OMIM:613610
Neonatal Marfan Syndrome	Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Abnormal cardiac ventricle morphology, Hea...	ORPHA:284979
19P13.3 Microduplication Syndrome	Precocious puberty, Ventricular septal defect, Unilateral cryptorchidism	ORPHA:447980
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Ascending tubular aorta aneurys...	ORPHA:444072
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Hypospadias, Spina bifida, Ectopic kidney, Pa...	OMIM:192350
Pallister-Hall Syndrome	Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Abnormal lung lobation, Holoprosence...	ORPHA:672
Rabson-Mendenhall Syndrome	Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Precocious puberty, Insulin...	ORPHA:769
Genitopatellar Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Pulmonary hypoplasia, Atrial septal defect, Hydrone...	ORPHA:85201
Fetal Alcohol Syndrome	Atrial septal defect	ORPHA:1915
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Adrenal hypoplasia, Patent ductus arteriosus, Hydropic placent...	OMIM:275210
Chand Syndrome	Atelectasis	ORPHA:1401
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Dilation of Virchow-Robin spaces, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Optic atrop...	OMIM:619512
Hennekam Syndrome	Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax, Ascites	ORPHA:2136
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Atrial septal defect, Patent foramen ovale, Hypospadias	OMIM:619184
Bohring-Opitz Syndrome	Ventricular septal defect, Supernumerary nipple, Vesicoureteral reflux, Hyperechogenic pancreas, ...	OMIM:605039
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis	ORPHA:319213
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Ventricular septal defect, Aganglio...	OMIM:229850
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Atrial septal defect, Aganglionic megacolon	OMIM:614207
Zttk Syndrome	Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral ren...	OMIM:617140
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Hypospadias, Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux, ...	OMIM:619103
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Death in infancy, Secundum atrial septal defect, Splenomegaly, ...	OMIM:608779
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Anterior pi...	ORPHA:464306
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Supernumerary nipple, C...	ORPHA:217346
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Patent d...	ORPHA:261337
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Hydrocephalus	OMIM:207410
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Cryptorchidism, Micropenis, Ventricular septal defect	OMIM:620073
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Patent foramen ovale, Hydronephrosis	OMIM:619179
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar...	ORPHA:90291
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Optic atrophy, ...	OMIM:616975
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Pulmonary hypoplasia	OMIM:617895
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level	ORPHA:96181
Livedoid Vasculopathy	Pancytopenia, Diabetes mellitus, Abnormal capillary morphology, Abnormality of the peripheral ner...	ORPHA:542643
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Cushing Disease	Increased urinary cortisol level, Lymphopenia, Adrenal hyperplasia, Diabetes mellitus, Paradoxica...	ORPHA:96253
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Hydrops fetalis, Fetal distress	OMIM:300868
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptor...	ORPHA:466791
Costello Syndrome	Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic...	ORPHA:3071
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microcornea, Cataract, Iris coloboma	OMIM:229400
Hereditary Elliptocytosis	Hydrops fetalis	ORPHA:288
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Cryptorchidism, Arteria lusoria, Vesicoureteral reflux, Micropenis, Pelvic ...	OMIM:618653
Magel2-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Premature pubarche, Precocious puberty, Cryptorchidism, Absence...	ORPHA:398069
Blomstrand Lethal Chondrodysplasia	Premature birth, Hydrops fetalis, Polyhydramnios	ORPHA:50945
Gracile Bone Dysplasia	Death in infancy, Asplenia, Hydrocephalus, Hypoplastic spleen, Micropenis	OMIM:602361
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Patent ductus arteriosus, Ventricular septal defect, Polycystic kidney dys...	OMIM:606232
Hand-Foot-Genital Syndrome	Ventricular septal defect, Hypospadias, Miscarriage, Abnormality of the urethra, Vesicoureteral r...	ORPHA:2438
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Secundum atrial septal defect	OMIM:620242
Esophageal Atresia	Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot...	ORPHA:1199
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Sterile pyuria, Tubulointerstitial nephritis, Cholecysti...	ORPHA:449395
1P36 Deletion Syndrome	Aortic arch aneurysm, Hepatic steatosis, Hypoplasia of penis, Abnormal heart valve morphology, Hy...	ORPHA:1606
Short Stature-Micrognathia Syndrome	Cryptorchidism, Micropenis, Ventricular septal defect, Penoscrotal hypospadias	OMIM:617164
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Coarct...	OMIM:139210
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Pancreatic And Cerebellar Agenesis	Death in infancy, Diabetes mellitus, Optic nerve hypoplasia, Secundum atrial septal defect, Pancr...	OMIM:609069
Peters-Plus Syndrome	Cataract, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Retinal coloboma, P...	OMIM:261540
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Meier-Gorlin Syndrome 7	Urethral stricture, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defec...	OMIM:617063
Meckel Syndrome 14	Occipital encephalocele, Tricuspid regurgitation, Pneumothorax, Mitral regurgitation, Pulmonary h...	OMIM:619879
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Ventricular septal defect	OMIM:234050
Cutis Laxa, Autosomal Recessive, Type Iic	Prominent superficial veins, Bilateral cryptorchidism, Pneumothorax, Mitral valve prolapse, Nephr...	OMIM:617402
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defec...	ORPHA:373
Acropectorovertebral Dysplasia	High, narrow palate, Cleft palate, Spina bifida	ORPHA:957
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Dilated cardiomyopathy, Increa...	ORPHA:261250
Degcags Syndrome	Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent fora...	OMIM:619488
Monosomy 13Q14	Intrauterine growth retardation, Holoprosencephaly, Cataract, Iris coloboma	ORPHA:1587
Waardenburg Syndrome Type 1	Cleft palate, Meningocele, Aganglionic megacolon, Spina bifida	ORPHA:894
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Abnormal pupil morphology, Microcornea, Abnormality of the pulmonary arter...	ORPHA:261552
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno...	ORPHA:90790
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie...	ORPHA:365
Townes-Brocks Syndrome	Cataract, Abnormal pulmonary valve morphology, Limbal dermoid, Patent ductus arteriosus, Abnormal...	ORPHA:857
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Decreased response to growth hormone stimulation test, Supernumerary nipple, Unilateral renal age...	OMIM:213980
Anemia, Congenital Dyserythropoietic, Type Iv	Hydrops fetalis	OMIM:613673
Chime Syndrome	Ventricular septal defect, Tetralogy of Fallot, Acute leukemia, Transposition of the great arteri...	ORPHA:3474
Distal Deletion 19P	Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Horseshoe kidney, Coarctation of aorta, Atr...	OMIM:617088
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Ventricular septal defect, Microvesicul...	OMIM:619418
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose vei...	OMIM:617107
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulation test, Hy...	ORPHA:444077
Focal Dermal Hypoplasia	Ectopia lentis, Myelomeningocele, Hydrocephalus, Telangiectasia, Chorioretinal coloboma, Aniridia...	OMIM:305600
Hamamy Syndrome	Hypoparathyroidism, Microcytic anemia, Complete atrioventricular canal defect, Cryptorchidism, Hy...	OMIM:611174
Cerebrocostomandibular Syndrome	Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Horseshoe kidney, Renal cyst...	OMIM:117650
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
Neu-Laxova Syndrome 2	Polyhydramnios, Spina bifida, Edema, Cleft palate, High palate, Intrauterine growth retardation	OMIM:616038
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Recurrent pancre...	OMIM:618268
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Ventricular septal defect, Unilateral renal agenesis, Aqueductal stenosis,...	OMIM:154400
Opitz Gbbb Syndrome	Ventricular septal defect, Rectourethral fistula, Wide anterior fontanel, Cleft palate, High pala...	OMIM:300000
Ctcf-Related Neurodevelopmental Disorder	Phimosis, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Prolonged neonatal jaun...	ORPHA:363611
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect, Thrombocytopenia	ORPHA:457351
Lethal Kniest-Like Dysplasia	Atrial septal defect	ORPHA:2347
Simpson-Golabi-Behmel Syndrome, Type 1	Abnormal lung lobation, Renal cyst, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Hypospadi...	OMIM:312870
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Hypospadias, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypoc...	OMIM:301040
Prader-Willi Syndrome Due To Translocation	Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased response to growth hor...	ORPHA:177907
Distal Deletion 12Q	Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne...	ORPHA:96149
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polycysti...	OMIM:263520
Fryns Microphthalmia Syndrome	Neural tube defect, Bilateral cleft lip and palate	OMIM:600776
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Iris coloboma	ORPHA:1236
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect	OMIM:620183
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect, Semil...	OMIM:301044
Vici Syndrome	Recurrent respiratory infections, Lymphopenia, Dilated cardiomyopathy, Decreased proportion of CD...	OMIM:242840
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Thrombocytopenia, Hypoplastic nipples, Anemia	ORPHA:261323
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv...	ORPHA:536467
Radio-Tartaglia Syndrome	Precocious puberty, Ventricular septal defect	OMIM:619312
Arboleda-Tham Syndrome	Recurrent respiratory infections, Ventricular septal defect, Secundum atrial septal defect, Bilat...	OMIM:616268
Vacterl With Hydrocephalus	Polyhydramnios, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesop...	ORPHA:3412
Ring Chromosome 12 Syndrome	Secundum atrial septal defect, Cryptorchidism, Glandular hypospadias, Hypothyroidism, Breast hypo...	ORPHA:1439
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Pearson Marrow-Pancreas Syndrome	Hydrops fetalis, Dehydration	OMIM:557000
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Fountain Syndrome	Facial edema, Spina bifida occulta, Spina bifida	ORPHA:3219
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Patent ductus arteriosus, Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Patent foramen ovale,...	OMIM:300990
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect	ORPHA:93947
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Patent foramen ovale	ORPHA:542306
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr...	OMIM:107480
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Ectopic kidney, Hepatic fibrosis, Atrial septal defect, Hepatic steatosis,...	ORPHA:99413
Sarcoidosis, Susceptibility To, 1	Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restri...	OMIM:181000
Mosaic Monosomy X	Bicuspid aortic valve, Ectopic kidney, Hepatic fibrosis, Atrial septal defect, Hepatic steatosis,...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Ectopic kidney, Hepatic fibrosis, Atrial septal defect, Hepatic steatosis,...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Ectopic kidney, Hepatic fibrosis, Atrial septal defect, Hepatic steatosis,...	ORPHA:881
Mucolipidosis Type Ii	Recurrent respiratory infections, Abnormal mitral valve morphology, Splenomegaly, Hepatosplenomeg...	ORPHA:576
Varicose Veins	Varicose veins	OMIM:192200
Cutis Laxa, Autosomal Recessive, Type Ib	Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuosity, Bradycardi...	OMIM:614437
Fanconi Anemia, Complementation Group N	Aplastic anemia, Ventricular septal defect	OMIM:610832
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:615802
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Optic atrophy, Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Gaucher Disease Type 3	Pericardial effusion, Hydrops fetalis	ORPHA:77261
Clapo Syndrome	Lymphangioma, Varicose veins, Venous malformation	ORPHA:168984
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Increased size of nasopharyngeal adenoids, Patent ductus arteriosus, Patent foramen ovale	ORPHA:457395
Relapsing Polychondritis	Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough	ORPHA:728
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid regurgitation, Corneal dystrophy, Mitral regurgitation, Tricuspid valve prolapse, Aniri...	ORPHA:1101
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Frontometaphyseal Dysplasia 2	Neurogenic bladder, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Pulmonic ste...	OMIM:617137
Turnpenny-Fry Syndrome	Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valv...	OMIM:618371
Codas Syndrome	Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Ventricular septal defect, Ectopic kidney, Cryptorc...	OMIM:227645
Otopalatodigital Syndrome, Type Ii	Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Atrial septal defect, Umbil...	OMIM:304120
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Retinal hemorrhage, Corneal scarring, Hypertension, Brady...	OMIM:614653
Johanson-Blizzard Syndrome	Hepatic fibrosis, Death in childhood, Atrial septal defect, Micropenis, Hypothyroidism, Hepatomeg...	OMIM:243800
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Maternal diabetes, Cryptorchidism...	ORPHA:49
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect	OMIM:613458
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation	OMIM:613089
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic he...	OMIM:619525
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Abn...	ORPHA:261537
Sotos Syndrome	Ureteral duplication, Vesicoureteral reflux, Atrial septal defect, Hypothyroidism, Hypospadias, C...	ORPHA:821
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Optic nerve hypoplasia, ...	ORPHA:500150
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Sirenomelia	Anal atresia, Tracheoesophageal fistula, Spina bifida, Sirenomelia	ORPHA:3169
Amish Lethal Microcephaly	Optic atrophy, Cleft soft palate, Spina bifida	ORPHA:99742
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Arterial dissection, Arterial tortuosity, Patent ductu...	ORPHA:284984
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Leigh Syndrome	Ventricular septal defect, Optic atrophy, Lacticaciduria, Methylmalonic aciduria, Generalized ami...	ORPHA:506
Iniencephaly	Encephalocele, Spina bifida, Polyhydramnios, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal...	ORPHA:63259
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hydrocephalus, Renovascular...	ORPHA:3472
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Gastrointestinal atresia, Inte...	ORPHA:436252
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia	OMIM:615503
Intellectual Developmental Disorder, Autosomal Dominant 53	Cryptorchidism, Micropenis, Ventricular septal defect, Hydronephrosis	OMIM:617798
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Hydroureter, Ventricular septal defect, Hypospadias, Ectopic ki...	OMIM:135900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Iris coloboma	ORPHA:2250
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Pulmo...	ORPHA:363700
Linear Nevus Sebaceus Syndrome	Iris coloboma	ORPHA:2612
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Precocious puberty, Cryptorchidism, ...	OMIM:616682
Witteveen-Kolk Syndrome	Branchial fistula, Cataract, Intracranial hemorrhage, Anisocoria, Intrauterine growth retardation...	OMIM:613406
Zygomycosis	Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Acute infectious pneumonia, Cough, Pleural effus...	ORPHA:73263
Mowat-Wilson Syndrome	Cataract, Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Abnormal heart...	ORPHA:2152
Gaucher Disease	Hydrocephalus, Hydrops fetalis	ORPHA:355
Spondyloocular Syndrome	Atrial septal defect, Mitral valve prolapse, Unilateral cryptorchidism, Dysplastic aortic valve	OMIM:605822
Renal Agenesis	Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ...	ORPHA:411709
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Opa...	OMIM:601559
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Cornelia De Lange Syndrome 1	Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Pneumonia, Cryptorchidism, O...	OMIM:122470
Tetraamelia Syndrome 1	Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Urethral atresia, Pulmonary hypopla...	OMIM:273395
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosu...	OMIM:268300
Isolated Cleft Lip	Situs inversus totalis, Umbilical hernia	ORPHA:199302
Den Hoed-De Boer-Voisin Syndrome	Lactose intolerance, Ventricular septal defect, Gastroesophageal reflux, Dysphagia, Intrauterine ...	OMIM:619229
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypospadias, Cryptorchidism, Horseshoe kidney, Total anomalous pulmonary venous return, Atrial se...	OMIM:609945
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	OMIM:607721
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum...	ORPHA:31204
Cerebellofaciodental Syndrome	Cryptorchidism, Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect, Corneal erosion, Megalocornea, Corneal ulceration	OMIM:609460
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis	ORPHA:3261
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Facial p...	OMIM:615873
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:250410
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Renal hypoplasia, Breast aplasia,...	ORPHA:3138
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Hyperthyroidism, Ventricular septal defect, Decreased response to growth horm...	ORPHA:488632
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Cryptorchidism,...	OMIM:619522
Diphallia	Ureteral duplication, Hypospadias, Distal urethral duplication, Epispadias, Penoscrotal transposi...	ORPHA:227
Distal Deletion 6P	Atrial septal defect	ORPHA:96125
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Cryptorchidism, Pneumothorax, Mitral valve prolapse, Nephrotic syndrome, Tricuspid valve prolapse...	OMIM:601776
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Ventricular septal defect	OMIM:619306
Oculodentodigital Dysplasia	Umbilical hernia, Neurogenic bladder, Optic atrophy, Ventricular septal defect	ORPHA:2710
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Abnormal venous morphology, Abnormal cerebral vascular morph...	ORPHA:276280
Coffin-Siris Syndrome 12	Hypospadias, Facial palsy, Cryptorchidism, Hypothyroidism, Noncommunicating hydrocephalus, Horses...	OMIM:619325
Bent Bone Dysplasia Syndrome 2	Atrial septal defect, Hepatomegaly, Micropenis	OMIM:620076
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Cryptorchidism, Micropenis, Ventricular septal defect, Decreased testicular size	ORPHA:251028
Niemann-Pick Disease Type C	Ascites, Hydrops fetalis, Fetal ascites	ORPHA:646
Trisomy 20P	Umbilical hernia, Ectopic anus, Abnormal autonomic nervous system physiology, Spina bifida	ORPHA:261318
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Hepatoblastoma, Splenopancreatic fusion, Hypoplastic...	OMIM:269150
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Aortic valve stenosis, Hydronephr...	OMIM:272950
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve, Chalazion	OMIM:613355
Chromosome 17P13.1 Deletion Syndrome	Spina bifida, High, narrow palate, Hydrocephalus, High palate, Umbilical hernia, Oligohydramnios	OMIM:613776
Trichothiodystrophy	Ventricular septal defect, Recurrent bronchopulmonary infections, Cryptorchidism, Increased mean ...	ORPHA:33364
Fibular Hemimelia	Spina bifida, Abnormal heart morphology	ORPHA:93323
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Chylothorax, Leukemia, Atrial septal defect, Pleural effusion	ORPHA:2526
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Meningocele	ORPHA:2031
Hepatoerythropoietic Porphyria	Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema	ORPHA:95159
Neu-Laxova Syndrome	Polyhydramnios, Spina bifida, Submucous cleft hard palate, Cleft palate, Pulmonary hypoplasia, In...	ORPHA:2671
Campomelic Dysplasia	Spina bifida, Polyhydramnios, Wide anterior fontanel, Hydrocephalus, Recurrent upper respiratory ...	OMIM:114290
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Recurrent respiratory infections, Meningocele, Abnormal optic disc morph...	ORPHA:397715
Mosaic Trisomy 20	Ventricular septal defect, Cryptorchidism, Dysplastic tricuspid valve, Horseshoe kidney, Abnormal...	ORPHA:1724
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral re...	OMIM:308205
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology	ORPHA:281090
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Hypospadias, Anterior pituitary hypoplasia, C...	OMIM:619841
Meester-Loeys Syndrome	Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti...	OMIM:300989
Pseudoaminopterin Syndrome	Asplenia, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Patent foramen ovale	ORPHA:221120
Orofaciodigital Syndrome Vi	Hamartoma of tongue, Cleft palate, Lobulated tongue, High palate, Hypoplastic left heart, Occipit...	OMIM:277170
Fibromuscular Dysplasia, Multifocal	Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ...	OMIM:619329
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Atrial septal defect	ORPHA:522077
Menkes Disease	Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Bladder diverticulum, Abnormal ...	ORPHA:565
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Median cleft palate	ORPHA:1827
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect	OMIM:178110
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Abnormal circulating thyroid hormone concentration, Patent ductus arteriosus, Cyst of the ductus ...	ORPHA:480880
Hyperlysinemia	Pulmonary artery hypoplasia, Recurrent pneumonia	ORPHA:2203
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation	ORPHA:83454
Semilobar Holoprosencephaly	Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes...	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes...	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes...	ORPHA:93924
Microphthalmia With Limb Anomalies	Death in infancy, Venous insufficiency, Cryptorchidism, Hydrocephalus, Optic atrophy, Horseshoe k...	ORPHA:1106
Oculodentodigital Dysplasia	Atrial septal defect, Neurogenic bladder	OMIM:164200
Generalized Arterial Calcification Of Infancy	Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Ascites, Fetal distress	ORPHA:51608
Knobloch Syndrome 1	Occipital encephalocele, Optic disc pallor, Pyloric stenosis, Patent ductus arteriosus, Peripapil...	OMIM:267750
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Proteinuria, Elevated hemoglobin A1c, Focal segmental g...	OMIM:619127
Congenital Erythropoietic Porphyria	Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema	ORPHA:79277
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Epispadias, Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Precocious puberty, Ureterocele, Umbilical hernia, Micropenis	ORPHA:1934
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve	OMIM:271640
Branchiooculofacial Syndrome	Cataract, Branchial anomaly, Retinal coloboma, Intrauterine growth retardation, Iris coloboma	OMIM:113620
Cloacal Exstrophy	Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Anal atresia	ORPHA:93929
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Ventricular septal defect, Optic neuropathy, Optic nerve compression	OMIM:619727
Phakomatosis Pigmentokeratotica	Spina bifida, Lymphedema	ORPHA:2874
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypospadias, Supernumerary nipple, Cryptorchidism, Chordee, Patent foramen ovale	ORPHA:477993
Microphthalmia, Syndromic 1	Bicuspid aortic valve, Optic disc coloboma, Microcornea, Pulmonary hypoplasia, Chorioretinal colo...	OMIM:309800
Aicardi Syndrome	Spina bifida, Hiatus hernia, Optic disc coloboma, Recurrent pneumonia, Optic atrophy, Cleft palat...	OMIM:304050
Schinzel-Giedion Syndrome	Aganglionic megacolon, Wide anterior fontanel, Recurrent pneumonia, Abnormal heart morphology, An...	ORPHA:798
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Bilateral cleft lip and palate	ORPHA:2003
Oculocerebrorenal Syndrome Of Lowe	Atelectasis, Recurrent respiratory infections, Respiratory insufficiency	ORPHA:534
Lumbar Syndrome	Anal atresia, Myelomeningocele, Ectopic anus, Spina bifida	ORPHA:83628
Vascular Ehlers-Danlos Syndrome	Abnormal pupil morphology, Internal hemorrhage, Keratoconus, Peripheral arteriovenous fistula, Va...	ORPHA:286
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Recurrent respiratory infections, Hypospadias, Pneumonia, Secundum atrial ...	OMIM:264090
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Ventricular septal defect, Ventricular septal hypertrophy, Clef...	OMIM:608670
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Hypothyroidism, Cryptorchidism, Ebstein an...	ORPHA:506358
Neurofibromatosis-Noonan Syndrome	Secundum atrial septal defect, Cryptorchidism, Pulmonic stenosis	OMIM:601321
Lathosterolosis	Intrauterine growth retardation, Meningocele, High palate	ORPHA:46059
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect...	OMIM:143095
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Unilateral renal agenesis, Secundum atrial septal defect, Lymphangioma, Subarterial ventricular s...	ORPHA:99646
Genitopatellar Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Pulmonary hypoplasia, At...	OMIM:606170
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect, Ureteropelvic junction obstruction, Vesicovaginal fistula	OMIM:300896
Pallister-Killian Syndrome	Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arter...	OMIM:601803
Nail-Patella Syndrome	Cleft palate, Spina bifida	OMIM:161200
Bartsocas-Papas Syndrome 1	Bilateral cryptorchidism, Micropenis, Patent foramen ovale, Ectopic kidney	OMIM:263650
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect, Optic nerve hypoplasia, Recurrent pneumonia, Umbilical hernia, Hydrone...	OMIM:620330
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect, Supernumerary nipple	ORPHA:1071
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis	OMIM:250220
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Renal ...	ORPHA:199
Exstrophy-Epispadias Complex	Abnormality of the gastrointestinal tract, Anal stenosis, Spina bifida, Hydrocephalus, Abnormal h...	ORPHA:322
Yunis-Varon Syndrome	Intrauterine growth retardation, Premature birth, Hydrops fetalis, Polyhydramnios	OMIM:216340
Metachromatic Leukodystrophy	Abnormal stomach morphology, Decreased nerve conduction velocity, Neoplasm of the gallbladder, Ab...	ORPHA:512
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Decreased nerve conduction velocity, Cystocele, Ascending tubular aorta ane...	ORPHA:285
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hydrops fetalis	ORPHA:93271
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Ventricular septal defect, Absent anterior chamber of the eye	OMIM:259770
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypoplasia, Hypoplasti...	OMIM:181450
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Osteogenesis Imperfecta, Type Vii	Absent pulmonary artery, Hypoplastic pulmonary veins	OMIM:610682
Arima Syndrome	Occipital meningocele, Esophageal varix, Optic atrophy	OMIM:243910
Occipital Horn Syndrome	Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Vascular dilatation	ORPHA:198
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom...	ORPHA:573278
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Norrie Disease	Diabetes mellitus, Venous insufficiency, Cryptorchidism, Optic atrophy, Delayed puberty	ORPHA:649
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele, High palate, Narrow palate	OMIM:276820

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 Cited2

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 Cited2.

No publications found that use IMPC mice or data for Cited2.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Cited2^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Cited2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cited2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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