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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch OMIM:613751
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... OMIM:606217
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Double outlet right ventri... OMIM:605376
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Emphysema, Chronic bronchitis OMIM:130700
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Posterior embryotoxon, Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary arter... OMIM:617992
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Thymic Aplasia With Fetal Death
Truncus arteriosus, Abnormality of the endocrine system, Stillbirth, Ureteral agenesis, Pulmonary... OMIM:274210
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:617577
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Hepatomegaly, Abnormal aortic arch morphology, Ventricular septal defect... ORPHA:860
Hypoplastic Left Heart Syndrome
Maternal diabetes, Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left he... ORPHA:2248
Nuchal Bleb, Familial
Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ascending tubular aorta aneurysm, Ventricular septal defect, Abdominal situs invers... OMIM:270100
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Overrid... OMIM:601927
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Abnormal lung mor... ORPHA:185
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic ... OMIM:185500
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Hepatic fibrosis, Asplenia, Pulmon... OMIM:615415
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:615297
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Neonatal death, Renal cyst OMIM:228940
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, E... ORPHA:401935
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Intrauterine growth retardation, Ascites ORPHA:295
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... ORPHA:3384
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... OMIM:608978
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Heterotaxy, Coarcta... ORPHA:3426
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Hydranencephaly, Truncus arteriosus, Unilateral renal agenesis OMIM:601355
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... ORPHA:99050
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Death in infancy, Truncus arteriosus, Tricusp... OMIM:617478
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus OMIM:614779
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus, Abnormal lung lobation ORPHA:2516
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Pa... OMIM:618164
Microphthalmia, Syndromic 9
Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Bilateral lung agenesis, Ventricu... OMIM:601186
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Hydronephrosis, Urethral stenosis, Displaceme... ORPHA:1727
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Mitral atresia, Double outlet ... OMIM:306955
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Coarctation of aorta, Overriding aorta, Cryptorchidism, ... OMIM:616145
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... ORPHA:3304
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Asplenia OMIM:618948
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Atrial septal defect OMIM:603387
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... ORPHA:477817
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Death in infancy, Double outlet right ventricle, Patent ductus arteriosus,... OMIM:618845
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis OMIM:249670
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Ritscher-Schinzel Syndrome 1
Hypospadias, Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, Pulmonic s... OMIM:220210
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Myelomeningocele, Situs inversus totalis, Unilateral vertebral artery hypoplasia, S... OMIM:613686
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Abnormal heart morphology, Recurrent respiratory infections, Atrial septal defect OMIM:617744
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... ORPHA:1457
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... ORPHA:216694
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis OMIM:611884
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Hypogonadotropic hypogonadism, Facial palsy, Patent ductus arteriosus,... OMIM:147770
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent... OMIM:615482
Idiopathic Bronchiectasis
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... ORPHA:60033
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Hepatic fibrosis, Portal hyperte... OMIM:616589
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Cryptorchidism, Tetralogy of Fallot OMIM:615542
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, ... OMIM:618316
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... OMIM:614980
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Left superior vena cava draining to coronary sinus, Common atrium OMIM:619143
Dextrocardia
Dextrocardia, Abnormality of the spleen, Abnormal pulmonary situs morphology, Pancreatic hypoplas... ORPHA:1666
Aortic Valve Disease 3
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Aortic root aneurysm OMIM:618496
Emanuel Syndrome
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmon... OMIM:609029
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Howell-J... OMIM:613759
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Recurrent respiratory ... OMIM:615067
Primary Ciliary Dyskinesia
Pulmonary situs ambiguus, Asplenia, Bronchiectasis, Persistent left superior vena cava, Double ou... ORPHA:244
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Pancreatic hypoplasia, Double outlet left ventricle, Patent ductus arteriosus... OMIM:600001
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Acrocardiofacial Syndrome
Hypospadias, Ventricular septal defect, Death in infancy, Truncus arteriosus, Coarctation of aort... ORPHA:2008
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Cryptorchidism, Atrial septal defect DECIPHER:39
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary arte... ORPHA:3400
Cat-Eye Syndrome (Type I)
Abnormal heart morphology, Iris coloboma DECIPHER:42
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Stankiewicz-Isidor Syndrome
Hypospadias, Ventricular septal defect, Ureteral duplication, Truncus arteriosus, Pineal cyst, Ab... OMIM:617516
Alagille Syndrome 2
Hypertension, Peripheral pulmonary artery stenosis, Posterior embryotoxon, Pulmonic stenosis, Atr... OMIM:610205
Atrioventricular Septal Defect 3
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect OMIM:600309
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Patent ductus art... OMIM:265380
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, Patent ductus arteriosu... OMIM:179613
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Double outlet left ventricle, Patent ductus arteriosus, Congenital defect ... ORPHA:2255
Velocardiofacial Syndrome
Interrupted aortic arch, Pulmonary artery atresia, Ventricular septal defect, Hypoparathyroidism,... OMIM:192430
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta, Pulmonary hy... OMIM:617022
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... OMIM:610338
Hb Bart'S Hydrops Fetalis
Preeclampsia, Polyhydramnios, Oligohydramnios, Hydrocephalus, Hydrops fetalis ORPHA:163596
Keutel Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent ... ORPHA:85202
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Polyhydramnios, Pleural effusion, Generalized edema OMIM:618773
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Abnormal heart morphology, Atrial septal defect, Tetralogy of... OMIM:614954
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Absence Of The Pulmonary Artery
Truncus arteriosus, Bronchiectasis, Abnormal heart morphology, Abnormal coronary artery morpholog... ORPHA:980
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia OMIM:614435
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Patent ductus arteriosus, Iris coloboma OMIM:615147
Biliary, Renal, Neurologic, And Skeletal Syndrome
Neonatal death, Patent ductus arteriosus, Splenomegaly, Medullary nephrocalcinosis, Anterior pitu... OMIM:619534
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema ORPHA:1164
Arterial Tortuosity Syndrome
Hypertension, Ischemic stroke, Ventricular hypertrophy, Aortic regurgitation, Aortic tortuosity, ... OMIM:208050
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect OMIM:253300
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema, Nasal polyposis OMIM:604571
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Situs inversus totalis, Bronchiectasis OMIM:618063
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Patent ductus arteriosus ORPHA:2863
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
8P23.1 Duplication Syndrome
Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot, Pulmonic stenosis ORPHA:251076
Achondrogenesis, Type Ib
Edema, Polyhydramnios, Breech presentation, Umbilical hernia, Hydrops fetalis OMIM:600972
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Recurrent respiratory i... OMIM:616037
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Intrauterine growth retardation, Atriove... ORPHA:251071
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... OMIM:108900
Cardiac-Urogenital Syndrome
Dextrocardia, Patent urachus, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductu... OMIM:618280
Emanuel Syndrome
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmon... ORPHA:96170
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:614679
Biemond Syndrome Ii
Hydrocephalus, Iris coloboma OMIM:210350
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Abnormal cardiac septum morphology, Patent ductus arteriosus OMIM:601612
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Abdominal situs inversus OMIM:619607
Congenital Hydrocephalus
Abnormal heart morphology, Hydrocephalus, Iris coloboma ORPHA:2185
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Arrhinencephaly, Aganglionic megacolon, Asplenia, Abnor... OMIM:156810
Alagille Syndrome
Hypertension, Ventricular septal defect, Intrauterine growth retardation, Peripheral pulmonary ar... ORPHA:52
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... OMIM:614370
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... OMIM:108800
Craniofacioskeletal Syndrome
Interrupted aortic arch, Hypospadias, Ventricular septal defect, Hydronephrosis, Patent ductus ar... OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Hypospadias, Ventricular septal defect, Hydronephrosis, Anemia, Patent d... ORPHA:163979
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Ventricular septal defect, Peripheral pulmonary artery stenosis, Hypoplasia of th... OMIM:613001
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Double outlet right ventricle, Hypogonadotropic hypogonadism, Pulmonary a... ORPHA:2326
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Respiratory insufficiency, Intraalveolar phospholipid accumulation OMIM:618042
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Mulibrey Nanism
Pericardial constriction, Intrauterine growth retardation, Cardiomegaly, Corneal dystrophy, Recur... OMIM:253250
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Indomethacin Embryofetopathy
Premature birth, Oligohydramnios, Hydrops fetalis ORPHA:1909
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Death in infancy, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation,... ORPHA:1120
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Intrauterine growth r... ORPHA:75389
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Intrauterine growth retardation, Atrial septal defect, Pulmonary valve... OMIM:301030
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Feingold Syndrome Type 1
Interrupted aortic arch, Horseshoe kidney, Hydronephrosis, Tricuspid atresia, Tricuspid stenosis,... ORPHA:391641
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Optic disc pallor OMIM:300887
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... ORPHA:2306
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Double outlet right ventricle, Cholelithiasis, Patent ductus arteriosu... OMIM:614886
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Mitral atresia, Single ventricle, Low-output congestive heart failure,... ORPHA:99125
Ciliary Dyskinesia, Primary, 2
Dextrocardia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic dissection, Cystic medial necrosi... OMIM:132900
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ventricular septal defect, Histiocytoid cardiomyopathy, Chordee, Micropenis, Atrial ... OMIM:309801
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Iris coloboma, Atrial septal defect, Coloboma, Microcornea ORPHA:921
Congenital Tracheomalacia
Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Bronchiectasis, Abnormal heart morpho... ORPHA:95430
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Hepatomegaly, Meningocele, Abnormal tricuspid valve morphology ORPHA:1759
Oculofaciocardiodental Syndrome
Mitral valve prolapse, Peripheral pulmonary artery stenosis, Ectopia lentis, Patent ductus arteri... ORPHA:2712
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Double outlet right vent... ORPHA:371428
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Hydronephrosis, Patent ductus arteriosus, Hydrocephalus, Abnormal cardia... ORPHA:250989
Achondrogenesis
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios ORPHA:932
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Micropenis, Atrial septal defect, Hypothyroi... OMIM:619189
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Chorioretinal coloboma, Iris coloboma OMIM:611638
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Hypo... ORPHA:2876
Digeorge Syndrome
Interrupted aortic arch, Ventricular septal defect, Hydronephrosis, Truncus arteriosus, Parathyro... OMIM:188400
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Chorioretinal coloboma, Iris coloboma OMIM:601706
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Ureteral duplication, Hydronephrosis, Abno... ORPHA:1926
Transaldolase Deficiency
Biventricular hypertrophy, Coarctation of aorta, Anemia, Cirrhosis, Hepatosplenomegaly, Atrial se... ORPHA:101028
Hadziselimovic Syndrome
Renal hypoplasia, Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetra... OMIM:612946
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... OMIM:300770
Ogden Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Arrhythmia, Cardiogenic shock ORPHA:276432
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Hepatic cysts OMIM:613095
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot ORPHA:3303
Hypertelorism And Tetralogy Of Fallot
Hypospadias, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmo... OMIM:239711
Cataract 21, Multiple Types
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma OMIM:610202
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Dysplastic Cortical Hyperostosis
Hydrops fetalis, Polyhydramnios ORPHA:2204
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... ORPHA:261183
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Horseshoe kidney, Truncus arterios... ORPHA:508498
Alg3-Cdg
Coarctation of the descending aortic arch, Neural tube defect, Abnormality of the endocrine syste... ORPHA:79321
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Coarctation of aorta, Pulmonic stenosis, Hepatic steatosis, Atrial septal defect... OMIM:614300
Diffuse Neonatal Hemangiomatosis
Premature birth, Hydrops fetalis, Ascites, Polyhydramnios ORPHA:2123
Sialidosis Type 2
Ascites, Umbilical hernia, Hydrops fetalis, Pedal edema ORPHA:87876
Meacham Syndrome
Horseshoe kidney, Ventricular septal defect, Conotruncal defect, Aplasia/Hypoplasia of the lungs,... ORPHA:3097
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Aortic dissection, Abnormal car... ORPHA:3342
22Q11.2 Deletion Syndrome
Hypospadias, Arrhinencephaly, Truncus arteriosus, Hypoplasia of the thymus, Patent ductus arterio... ORPHA:567
Achondrogenesis Type 1B
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios ORPHA:93298
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Tetralogy of Fallot, Hydrocephalus ORPHA:250994
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... ORPHA:75566
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Hypothyro... OMIM:601005
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Intrauterine growth retardation, Abnormality of the amniotic fluid OMIM:608540
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Patent ductus arteriosus, Splenomegaly, Atrial s... ORPHA:290
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta, Mesocardia, Atrial septal defect, Umbil... OMIM:136140
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Arter... OMIM:178600
Fetal Minoxidil Syndrome
Ventricular septal defect, Cryptorchidism ORPHA:1918
3C Syndrome
Ventricular septal defect, Chorioretinal coloboma, Abnormal mitral valve morphology, Atrioventric... ORPHA:7
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Abnormality of the pulmonary artery, Tetra... ORPHA:1166
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Twin-to-twin transfusion, Spontaneous a... ORPHA:1041
Infantile Sialic Acid Storage Disease
Premature birth, Ascites, Hydrocephalus, Hydrops fetalis OMIM:269920
Nephronophthisis 16
Hypertrophic cardiomyopathy, Hepatic fibrosis, Situs inversus totalis, Patent ductus arteriosus, ... OMIM:615382
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Lymphedema OMIM:617300
Achondrogenesis Type 1A
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios ORPHA:93299
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Interrupted aortic arch, Hypospadias, Ethylmalonic aciduria, Hepatom... ORPHA:17
Primary Pulmonary Hypoplasia
Dextrocardia, Pneumothorax, Recurrent respiratory infections, Secundum atrial septal defect, Pulm... ORPHA:2257
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Macrocytic anemia, Abnormal cardiac septum morphology OMIM:614294
Mental Retardation, Autosomal Dominant 21
Cryptorchidism, Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Micropenis, Atrial se... OMIM:613870
Chondrodysplasia, Blomstrand Type
Premature birth, Hydrops fetalis, Polyhydramnios OMIM:215045
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Heterotaxy, Recurrent pneumonia, Recu... OMIM:613807
Temtamy Syndrome
Iris coloboma, Chorioretinal coloboma, Aortic aneurysm ORPHA:1777
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Apert Syndrome
Hydronephrosis, Ventricular septal defect, Hydrocephalus, Overriding aorta, Cryptorchidism OMIM:101200
Cardiomyopathy, Familial Restrictive, 6
Hydrops fetalis, Ascites OMIM:619433
Temtamy Syndrome
Chorioretinal coloboma, Ectopia lentis, Aortic regurgitation, Iris coloboma, Aortic aneurysm, Len... OMIM:218340
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology ORPHA:3405
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... OMIM:612561
Charge Syndrome
Interrupted aortic arch, Optic atrophy, Horseshoe kidney, Abnormal cranial nerve morphology, Hydr... ORPHA:138
Humero-Radial Synostosis
Meningocele, Chorioretinal coloboma, Iris coloboma ORPHA:3265
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Vesicoureteral reflux OMIM:601450
Distal Monosomy 13Q
Holoprosencephaly, Anencephaly, Abnormal cardiac septum morphology, Iris coloboma ORPHA:1590
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Syringomyelia, Peripheral pulmonary artery stenosis, Iris coloboma ORPHA:436003
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract ORPHA:1473
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Poland Syndrome
Dextrocardia OMIM:173800
Ellis-Van Creveld Syndrome
Cryptorchidism, Atrial septal defect, Common atrium OMIM:225500
Kapur-Toriello Syndrome
Ventricular septal defect, Retinal coloboma, Patent ductus arteriosus, Iris coloboma, Tetralogy o... ORPHA:2328
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Charge Syndrome
Arrhinencephaly, Dysplastic tricuspid valve, Decreased response to growth hormone stimulation tes... OMIM:214800
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Abnormal heart morphology, Patent ductus arteriosus, Polycystic... ORPHA:314588
Monosomy 13Q34
Pulmonic stenosis, Common atrium ORPHA:96168
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Coarctation of aorta, Abnormality of the t... ORPHA:1923
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Iris coloboma OMIM:212550
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Holoprosencephaly, Sclerocornea, Patent ductus arteriosus, Iris colobo... ORPHA:77298
Immunodeficiency 49
Pulmonary artery stenosis, Umbilical hernia OMIM:617237
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Prune Belly Syndrome
Ventricular septal defect, Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, Congenital... ORPHA:2970
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Decreased DLCO, Restrictive ventilatory defect, Dyspne... OMIM:610910
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Death in infancy, Jaundice OMIM:614876
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Intrauterine growth retardation, Bilateral lung agenesis, Pulmonary ar... OMIM:611812
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Fetal Trimethadione Syndrome
Hypospadias, Ventricular septal defect, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis OMIM:618052
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive megaloblast... OMIM:249270
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Coarctation of aorta, Micronodular cir... OMIM:606003
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:618974
Distal 22Q11.2 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Branchial fistula, Aortic aneurysm, Atrial septal ... ORPHA:261330
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Hepatomegaly, Ventricular septal defect, Hydronephrosis, Leukopenia, Double outlet r... OMIM:301056
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus OMIM:613355
Okamoto Syndrome
Ventricular septal defect, Primum atrial septal defect, Hydronephrosis, Abnormal mitral valve mor... ORPHA:2729
Cat-Eye Syndrome
Intrauterine growth retardation, Chorioretinal coloboma, Iris coloboma ORPHA:195
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Maternal diabetes, Fetal distress ORPHA:45452
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Nonspecific interstitial pn... OMIM:610921
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Hydrocephalus, Abnormal cardiac septum morphology, Mitral regurgitation ORPHA:83473
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Tricuspid regurgitation, Vascular dilatatio... ORPHA:615
Triploidy
Meningocele, Intrauterine growth retardation, Holoprosencephaly, Iris coloboma, Hydrocephalus, Ab... ORPHA:3376
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Bilateral cryptorchidism, Atri... OMIM:618652
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Coarctation of aorta, Atrioventricular canal defect OMIM:618929
Chilblain Lupus 2
Edema, Vasculitis OMIM:614415
Mmep Syndrome
Ventricular septal defect, Cryptorchidism ORPHA:3434
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Ogden Syndrome
Premature ventricular contraction, Ventricular septal defect, Ventricular tachycardia, Torsade de... OMIM:300855
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Pulmonary artery stenosis, Branchial cyst ORPHA:435938
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Trisomy 13
Ventricular septal defect, Intrauterine growth retardation, Abnormal lung lobation, Aplasia/Hypop... ORPHA:3378
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Atrial fibrillation, Mitral regurgitation OMIM:617047
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Hydronephrosis, Asplenia... ORPHA:210122
Aortic Aneurysm, Familial Thoracic 7
Ascending aortic dissection, Descending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614262
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Renal hypoplasia... OMIM:264480
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Cervical cord compression, Patent ductus arteriosus, Atrial septal def... ORPHA:79345
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, Hypogonadism, Atrial septal defect, Diabetes mellitus OMIM:615981
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis OMIM:613673
Glycogen Storage Disease Iv
Ascites, Edema, Decreased fetal movement, Polyhydramnios, Hydrops fetalis OMIM:232500
Kleefstra Syndrome
Bicuspid aortic valve, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Pulm... ORPHA:261494
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Cleft palate, Ectopic anus, Anencephaly, Spina bifida, Hypoplastic lef... ORPHA:2476
Igg4-Related Aortitis
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Thoracic ao... ORPHA:449400
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Wolcott-Rallison Syndrome
Hepatomegaly, Central hypothyroidism, Neutropenia, Iron deficiency anemia, Double outlet right ve... ORPHA:1667
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Pulmonary sequestration, Mitral stenosis, Paten... ORPHA:2847
Donnai-Barrow Syndrome
Ventricular septal defect, Umbilical hernia, Iris coloboma ORPHA:2143
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Atrial septal defect, Coarctation of aorta OMIM:600987
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Developmental cataract, Peripheral pulmonary artery stenosis, Double o... ORPHA:163956
Klippel-Trénaunay Syndrome
Hepatomegaly, Hematuria, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Atrial se... ORPHA:90308
Holt-Oram Syndrome
Ventricular septal defect, Abnormal aortic morphology, Atrioventricular canal defect, Patent duct... ORPHA:392
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Coarctation of aorta, Tricuspid valve prolap... ORPHA:2396
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Tetralogy of Fallot, Overriding aorta, Absent gallbladder ORPHA:3186
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... ORPHA:99095
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Abnormal cranial nerve morphology, Vesicouretera... ORPHA:228399
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Fetal akinesia sequence OMIM:618815
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Intrauterine growth retardation, Anencephaly, Holoprosenc... ORPHA:1908
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Ventricular septal defect, Death in infancy, Hepatomegaly, Proximal tubulopathy, P... OMIM:614576
Fryns Syndrome
Hypospadias, Abnormal aortic arch morphology, Abnormal aortic morphology, Aganglionic megacolon, ... ORPHA:2059
46,Xx Sex Reversal 5
Increased serum testosterone level, Ventricular septal defect, Hypoplastic left heart, Secundum a... OMIM:618901
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Ane... OMIM:612541
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis, Intrauterine growth retardation OMIM:231100
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Spina bifida occulta, Intrauterine growth retardation, Peripheral pulmonar... OMIM:300707
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis, A... OMIM:618223
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Microgastria-Limb Reduction Defect Syndrome
Horseshoe kidney, Arrhinencephaly, Abnormality of the spleen, Truncus arteriosus, Hepatomegaly, A... ORPHA:2538
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Isomerism OMIM:314390
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia, Atrial septal defect, Umbilical hernia OMIM:615879
Autosomal Recessive Cutis Laxa Type 1
Abnormal systemic arterial morphology, Abnormal cardiac ventricular function, Intrauterine growth... ORPHA:90349
Maternal Phenylketonuria
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Coarctation ... ORPHA:2209
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Recombinant 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P... ORPHA:96167
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal heart morphology, Renal cyst, Patent ductus art... ORPHA:488618
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Chorioretinal coloboma, Intrauterine growth retardation, Abnormal hear... ORPHA:494344
Marfanoid Habitus With Situs Inversus
Mitral valve prolapse, Persistent left superior vena cava, Aortic root aneurysm, Situs inversus t... OMIM:609008
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... ORPHA:217607
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Micropenis, Atrial septal defect, Unilateral... OMIM:618142
Fanconi Renotubular Syndrome 5
Emphysema, Decreased DLCO, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis OMIM:300991
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hydrops fetalis, Pleural effusion, Ascites ORPHA:2414
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Mitral atresia, Aortic regurgitation, Syringomyelia, Abnormal cardiac septum morphology, Pulmonar... ORPHA:140952
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Pulmonary arterial hypertension, ... OMIM:100300
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Septo-optic dysplasia, Double outlet right ventricle, Optic nerve hypo... OMIM:301043
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Chorioretinal coloboma, Patent ductus arteriosus, Iris coloboma, Aortic va... OMIM:243310
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Giant Cell Arteritis
Aortic dissection, Abdominal aortic aneurysm, Optic atrophy, Pericarditis, Mediastinal lymphadeno... ORPHA:397
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Methylmalonic aciduria, Homocystinuria, Coarctation of aorta, Anemia, Atrial septal ... OMIM:614857
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Idiopathic/Heritable Pulmonary Arterial Hypertension
Syncope, Right ventricular dilatation, Palpitations, Elevated jugular venous pressure, Pulmonary ... ORPHA:422
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Ventricular septal defect, Megaloblastic anemia, Atrial septal defect, Diabetes me... ORPHA:49827
Pentalogy Of Cantrell
Hypospadias, Ventricular septal defect, Anencephaly, Absent gallbladder, Atrial septal defect, Te... ORPHA:1335
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Asplenia, Abnormal lung lobation, Endocardial fibroelast... ORPHA:99776
Kapur-Toriello Syndrome
Ventricular septal defect, Intrauterine growth retardation, Retinal coloboma, Patent ductus arter... OMIM:244300
Cat Eye Syndrome
Abnormal heart morphology, Total anomalous pulmonary venous return, Chorioretinal coloboma, Iris ... OMIM:115470
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Phace Association
Ventricular septal defect, Congenital hypothyroidism, Lingual thyroid, Coarctation of aorta, Anom... OMIM:606519
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenos... OMIM:615355
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Intrauterine growth r... OMIM:300998
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios ORPHA:1263
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Intrauterine growth retardation OMIM:619003
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... ORPHA:1461
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth retardation, Peripheral pul... ORPHA:84064
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot, Decreased response to growth hormone stimulation ... OMIM:618624
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Ascending tubular aorta aneurysm, Premature coronary artery atherosclerosis,... OMIM:611788
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:3033
Werner Syndrome
Hypertension, Neoplasm of the lung, Telangiectasia of the skin, Myocardial infarction, Congestive... ORPHA:902
Trisomy 8P
Peripheral pulmonary artery stenosis, Dysplastic aortic valve, Abnormal lung lobation, Heterochro... ORPHA:264450
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity OMIM:616166
Weill-Marchesani Syndrome
Ventricular septal defect, Mitral regurgitation, Ectopia lentis, Pulmonic stenosis, Cataract, Aor... ORPHA:3449
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
20Q13.33 Microdeletion Syndrome
Hypospadias, Abnormal cardiac ventricle morphology, Atrial septal defect, Hypoplastic aortic arch ORPHA:261311
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Unilateral renal agenesis OMIM:608406
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Shashi-Pena Syndrome
Atrial septal defect OMIM:617190
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Vascular dilatation, Pulmonary artery stenosis, Pulmonary hypoplasia, Patent foramen o... OMIM:613177
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Hepatomegaly, Anemia, Patent ductus arteriosus, Atrial septal defect... ORPHA:1842
Lambert Syndrome
Hypospadias, Ventricular septal defect, Intrahepatic biliary atresia, Branchial anomaly, Cholesta... ORPHA:1296
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Coronary artery aneurysm, Abdominal aortic aneurysm, Ascending aortic... OMIM:615436
Ciliary Dyskinesia, Primary, 40
Abnormal heart morphology, Situs inversus totalis OMIM:618300
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation ORPHA:2515
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Right bundle branch block, Cardiomegaly, Tricus... ORPHA:439
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis OMIM:608644
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Peripheral pulmonary artery stenosis, Mitral regurgitation, Aortic roo... OMIM:617506
Monosomy 18Q
Secondary growth hormone deficiency, Patent ductus arteriosus, Aortic aneurysm, Pulmonary valve d... ORPHA:1600
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Optic disc coloboma, Patent ductus arteriosus, Iris coloboma ORPHA:52055
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Right ventricular hypertrophy, Situs inversus totalis, Bil... OMIM:267010
Noonan Syndrome 9
Ventricular septal defect, Coarctation of aorta, Cryptorchidism, Pulmonic stenosis OMIM:616559
Lymphangiectasia, Pulmonary, Congenital
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... OMIM:265300
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Holoprosencephaly, Patent ductus arteriosus, Atrial septal defec... ORPHA:93274
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Ascites, Palpebral edema, Pleural effusion, Hydrops fetalis, Predominantly lower limb lymphedema ORPHA:69735
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Patent ... ORPHA:500159
Hypomandibular Faciocranial Dysostosis
Optic disc coloboma, Atrial septal defect, Patent ductus arteriosus OMIM:241310
Distal Monosomy 15Q
Hypospadias, Bicuspid aortic valve, Abnormal aortic arch morphology, Decreased serum insulin-like... ORPHA:1596
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Cryptorchidism OMIM:615524
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... OMIM:616201
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Anterior polar cataract, Peripheral pulmonary artery stenosis, Hydroce... OMIM:619575
Chromosome 14Q11-Q22 Deletion Syndrome
Optic atrophy, Ventricular septal defect, Patent ductus arteriosus, Cryptorchidism, Patent forame... OMIM:613457
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ventricular septal defect, Peripheral pulmonary artery stenosis, Retinal coloboma, Transposition ... OMIM:280000
Lateral Meningocele Syndrome
Meningocele, Ventricular septal defect, Syringomyelia, Iris coloboma, Dural ectasia, Umbilical he... ORPHA:2789
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Tachypnea, Interlobular sep... OMIM:265120
Ritscher-Schinzel Syndrome 2
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:300963
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Short chordae tendineae of th... OMIM:314400
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Cleft palate, Abnormal cranial nerve morphology, Ectopic anus, Anal at... ORPHA:2345
Phace Syndrome
Lens coloboma, Sclerocornea, Abnormal heart morphology, Aortic root aneurysm, Coarctation of aort... ORPHA:42775
Bresek Syndrome
Neonatal death, Intrauterine growth retardation, Hydrocephalus, Iris coloboma ORPHA:85284
Thanatophoric Dysplasia
Atrial septal defect, Hydrocephalus, Pulmonary hypoplasia, Patent ductus arteriosus ORPHA:2655
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... OMIM:619632
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema OMIM:153100
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Hypomelanosis Of Ito
Cataract, Iris coloboma OMIM:300337
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertro... ORPHA:284169
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Cryptorchidism, Atrial septal defect, Umbilical hernia ORPHA:352490
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Death in infancy, Aganglionic megacolon, Patent ductus arteriosus, Exo... ORPHA:452
Williams Syndrome
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Patent ductus arteriosus, Overriding... ORPHA:904
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Patent ductus arteriosus, Splenomegaly, Recurrent respiratory infections, Hypertroph... OMIM:617303
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect OMIM:613458
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Intrauterine growth retardation OMIM:618838
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta, Mesocardia, Atrial septal defect, Tetra... ORPHA:2044
Focal Dermal Hypoplasia
Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Chorioretinal coloboma, Hypoplasia of... ORPHA:2092
Coronary Arterial Fistula
Coronary artery aneurysm, Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilata... ORPHA:2041
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... ORPHA:99094
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Filippi Syndrome
Optic atrophy, Ventricular septal defect, Cryptorchidism OMIM:272440
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladder, Tetralogy of Fallot ORPHA:96092
Microform Holoprosencephaly
Intrauterine growth retardation, Holoprosencephaly, Iris coloboma, Tetralogy of Fallot, Cyclopia ORPHA:280200
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Left atrial enlargement, Syncope, Atrial fibrillation, Mitral regurg... ORPHA:75249
Minicore Myopathy With External Ophthalmoplegia
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Donnai-Barrow Syndrome
Ventricular septal defect, Hypoplasia of the iris, Iris coloboma, Cataract, Umbilical hernia OMIM:222448
Laurence-Moon Syndrome
Cataract, Iris coloboma ORPHA:2377
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Death in infancy, Abnormal lung lobation, Coarctation of aorta, Patent... OMIM:300514
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Horseshoe kidney, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus... OMIM:218350
Carpenter Syndrome 1
Optic atrophy, Ventricular septal defect, Hydronephrosis, Hydroureter, Patent ductus arteriosus, ... OMIM:201000
Anophthalmia Plus Syndrome
Spina bifida, Iris coloboma ORPHA:1104
Familial Bicuspid Aortic Valve
Bicuspid aortic valve, Coarctation of aorta, Abnormal left ventricular outflow tract morphology, ... ORPHA:402075
Pagod Syndrome
Meningocele, Optic atrophy, Abnormal aortic morphology, Death in infancy, Abnormality of the sple... ORPHA:991
Autosomal Dominant Cutis Laxa
Developmental cataract, Intrauterine growth retardation, Peripheral pulmonary artery stenosis, Br... ORPHA:90348
Alagille Syndrome 1
Ventricular septal defect, Peripheral pulmonary artery stenosis, Posterior embryotoxon, Axenfeld ... OMIM:118450
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Recurrent aspiration pneumonia, Patent ductus arteriosus, Iris colobom... OMIM:300472
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Uveitis, Cor... OMIM:221900
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia, Patent foramen ovale, Patent ductus arteriosus OMIM:616867
Collagenoma, Familial Cutaneous
Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Iris atrophy, Vasculitis, Congestiv... OMIM:115250
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Remnants of the hyaloid vascular sys... ORPHA:231736
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Coarctation of aorta, Micropenis, Atrial septal defect, Tetralogy of F... OMIM:617159
Lissencephaly Syndrome, Norman-Roberts Type