Gene: Ate1 MGI:1333870

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
arginyltransferase 1
Synonyms:
N/A

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 Ate1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ate1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect OMIM:615297
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of aorta, Transp... OMIM:612474
Thymic Aplasia With Fetal Death
Truncus arteriosus, Stillbirth OMIM:274210
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Truncus arteriosus, Ventricular septal defect OMIM:601355
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Truncus arteriosus, Ventricular septal defect OMIM:228940
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Atrial fibrillation,... OMIM:604169
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... OMIM:253300
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tor... OMIM:249670
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology OMIM:617744
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology, P... ORPHA:401935
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, C... ORPHA:3384
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Oligohydramnios, Stillbirth, Pulmonic stenosis, Aorti... OMIM:615415
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Adams-Oliver Syndrome 6
Portal hypertension, Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect OMIM:616589
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Heart murmur, Double outlet rig... ORPHA:3426
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Retinitis Pigmentosa 42
Pallor OMIM:612943
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pu... OMIM:609029
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Retinitis Pigmentosa 81
Pallor OMIM:617871
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Retinitis Pigmentosa 60
Pallor OMIM:613983
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Premature skin wrinkling, Biventricular hypertrophy, Edema... ORPHA:101028
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Congestive heart failure, Pallor ORPHA:163596
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Oligohydramnios, Ventricular septal defect, Patent duct... ORPHA:96170
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Klippel-Trénaunay Syndrome
Hydrops fetalis, Atrial septal defect, Gastrointestinal hemorrhage, Abnormal tricuspid valve morp... ORPHA:90308
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Hypertension OMIM:617021
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Syncope, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Noonan Syndrome 8
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Webbed ... OMIM:615355
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Ventricular septal defect, Lymphedema, Atrial flutter, Pat... OMIM:601927
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Arterial... ORPHA:79094
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Optic Atrophy 9
Pallor OMIM:616289
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Pedal edema, Patent ductus arteriosus, Peripheral arterial stenosis, S... OMIM:126320
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Hypertension, Bicuspid aortic valve, Pulmonary ar... OMIM:613355
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Syncope, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:618652
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Syncope, Tachycardia, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect ORPHA:3469
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, Second de... OMIM:618782
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Peripheral Cone Dystrophy
Pallor OMIM:609021
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Ebstein Malformation Of The Tricuspid Valve
Atrial septal defect, Arrhythmia, Abnormal endocardium morphology, Imperforate tricuspid valve, P... ORPHA:1880
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect OMIM:617516
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Congenital finger flexion contractures, Congenital muscular torticollis, F... ORPHA:536516
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Rheumatic Fever
Arrhythmia, Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve mo... ORPHA:3099
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Mit... ORPHA:2008
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Ventricular septal ... OMIM:613870
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Li-Campeau Syndrome
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619189
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Prolonged QT interval, Patent ... OMIM:601005
Noonan Syndrome 11
Palmoplantar cutis laxa, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:618499
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
American Trypanosomiasis
Arrhythmia, Achalasia, Congestive heart failure, Myocarditis, Pallor, Cardiomyopathy ORPHA:3386
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Congestive heart failure, Cardiomyopathy ORPHA:53296
Retinitis Pigmentosa 27
Macular edema, Pallor OMIM:613750
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Mitral regurgitation, P... OMIM:612561
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus OMIM:601450
Evans Syndrome
Petechiae, Pallor, Epistaxis, Syncope ORPHA:1959
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect OMIM:300887
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Pulmonar... OMIM:608406
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Spina bifida occulta, ... OMIM:239711
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... ORPHA:229
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Aortic regurgitation, Abnormal left ventricular function, Patent duc... OMIM:132900
Retinitis Pigmentosa 70
Pallor OMIM:615922
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Ventricular septal defect, Webbed neck, Pulmonic stenosis, Hypertrophic car... OMIM:615279
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Beta-Thalassemia
Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Chromosome 16P13.3 Duplication Syndrome
Camptodactyly, Atrial septal defect, Ventricular septal defect OMIM:613458
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Optic Atrophy 1
Pallor OMIM:165500
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Palpitations, Atrial septal defect, Abnormal heart ... ORPHA:2847
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture,... OMIM:616867
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:616276
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Pulmoni... OMIM:179613
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Paroxysmal at... ORPHA:392
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Pallor, Syncope ORPHA:324575
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Pulmonary artery atresi... OMIM:612946
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Pallor ORPHA:90037
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Spina bifida, Coarctation of aorta, Abno... ORPHA:1120
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Shashi-Pena Syndrome
Atrial septal defect OMIM:617190
Breath-Holding Spells
Pallor OMIM:607578
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia, Dry skin ORPHA:1035
Thanatophoric Dysplasia
Polyhydramnios, Atrial septal defect, Redundant skin, Patent ductus arteriosus, Increased nuchal ... ORPHA:2655
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, ... ORPHA:3405
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal heart valve morphology, Thin skin, Patent ductus arteriosus, Aorti... ORPHA:98892
Retinitis Pigmentosa 73
Pallor OMIM:616544
Thanatophoric Dysplasia Type 2
Polyhydramnios, Atrial septal defect, Redundant skin, Patent ductus arteriosus, Increased nuchal ... ORPHA:93274
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Webbed neck, Pleural ef... OMIM:616564
Autoimmune Hemolytic Anemia
Arrhythmia, Pallor, Congestive heart failure ORPHA:98375
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Cardiomyopathy OMIM:249270
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Hypoplastic left heart, Ventric... OMIM:618901
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect, Edema, Skeletal mu... OMIM:607598
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Atrial septal defect, Pallor, Ventricular septal defect OMIM:609053
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Transposition of the great arteries, Ventricular septa... ORPHA:1913
Lymphedema-Distichiasis Syndrome
Arrhythmia, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Predominantly lower ... OMIM:153400
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect, Skeletal muscle atrophy, Coarctation of aorta OMIM:614300
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Redundant neck skin, P... ORPHA:2519
Mental Retardation, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Bone Dysplasia, Lethal Holmgren Type
Redundant neck skin, Atrial septal defect, Patent ductus arteriosus, Hypertrophic cardiomyopathy ORPHA:1842
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Atrial septal defect, Abnormal heart morphology, Joint contra... ORPHA:352490
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Bicuspid aortic valve, Patent ... OMIM:619149
Noonan Syndrome 5
Polyhydramnios, Atrial septal defect, Arrhythmia, Webbed neck, Pulmonic stenosis, Dry skin, Hyper... OMIM:611553
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Ventricu... ORPHA:261330
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618142
Transaldolase Deficiency
Atrial septal defect, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Coarc... OMIM:606003
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle,... ORPHA:3304
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Umbilical hernia OMIM:615879
Noonan Syndrome 12
Polyhydramnios, Supravalvular aortic stenosis, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:210122
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Oligohydramnios, Secundum atrial sep... OMIM:616866
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
22Q11.2 Deletion Syndrome
Polyhydramnios, Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Spina bifida, Gastro... ORPHA:567
Ritscher-Schinzel Syndrome 2
Camptodactyly, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:300963
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:290
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Mcdonough Syndrome
Diastasis recti, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve... OMIM:248950
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Truncus arteriosus, Aortic regurgitation, Ventricular septal defect, Coarctation of... ORPHA:508498
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Hydrops fetalis, Arteria lusoria, Tricuspid regurgitation, Edema, Mitral steno... OMIM:212093
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect OMIM:616901
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Ventricular preexcitation, Atrial fibrillation, Ebstein ... OMIM:224700
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve OMIM:300049
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Atrial septal defect, Facial hypotonia, Decreased muscle mass, Congestive heart f... ORPHA:500533
Complete Atrioventricular Septal Defect
Right ventricular failure, Elevated pulmonary artery pressure, Complete atrioventricular canal de... ORPHA:1329
Prune Belly Syndrome
Atrial septal defect, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Aplas... ORPHA:2970
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Noonan Syndrome 2
Polyhydramnios, Atrial septal defect, Arthrogryposis multiplex congenita, Abnormal coronary arter... OMIM:605275
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Skeletal muscle atrophy, Knee flexion contractur... OMIM:603387
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect ORPHA:261295
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... ORPHA:488618
Atrial Septal Defect 9
Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Eisenmenger Syndrome
Ventricular arrhythmia, Patent ductus arteriosus, Tricuspid regurgitation, Pulmonary arterial hyp... ORPHA:97214
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Seizures-Scoliosis-Macrocephaly Syndrome
Polyhydramnios, Atrial septal defect ORPHA:466926
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Kagami-Ogata Syndrome
Polyhydramnios, Diastasis recti, Atrial septal defect, Ventricular septal defect, Flexion contrac... OMIM:608149
Lymphatic Malformation 6
Polyhydramnios, Atrial septal defect, Lymphedema, Webbed neck, Pleural effusion, Facial edema, In... OMIM:616843
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Pallor OMIM:600462
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Pulmonary arterial hypertension, Hypertensio... OMIM:600309
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Scapular winging, Ventricular septal defect, Patent ductus arteriosus, Tric... OMIM:618870
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Cleft Palate, Cardiac Defects, And Mental Retardation
Coarctation of aorta, Atrial septal defect, Ventricular septal defect OMIM:600987
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Dermal translucency, Arterial rupture OMIM:619115
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Pallor ORPHA:90033
Tyshchenko Syndrome
Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:615102
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect OMIM:614261
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Hyper... OMIM:615382
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Dehydration,... OMIM:208085
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Oligohydramnios, Patent ductus arteriosus, Aortic v... OMIM:267010
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Abnormal heart morphology, Camptodactyly, Patent ductus arteriosus, Left-to... ORPHA:363444
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... ORPHA:477817
17Q12 Microduplication Syndrome
Polyhydramnios, Atrial septal defect ORPHA:261272
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Contractural Arachnodactyly, Congenital
Atrial septal defect, Congenital finger flexion contractures, Ventricular septal defect, Camptoda... OMIM:121050
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Joubert Syndrome 18
Camptodactyly, Ventricular septal defect OMIM:614815
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Tricuspid regurgitation, Neonatal ... OMIM:619167
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Pulmonary arterial hypertension, Hypertension, Biventricular hypertrop... OMIM:615474
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Oligohydramnios, Lymphedema, Patent ductus arteriosus, Hypertension, Right ventricular hypertroph... OMIM:613623
Rare Circulatory System Disease
Arterial tortuosity, Intermittent claudication, Abnormal vascular morphology, Arterial calcificat... ORPHA:98028
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Ventricular sep... ORPHA:1166
Megalencephaly
Atrial septal defect ORPHA:2477
Dohle Bodies And Leukemia
Lymphedema, Secundum atrial septal defect OMIM:223350
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Large plac... ORPHA:254534
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Coarctation of aor... ORPHA:284169
Mental Retardation, Autosomal Recessive 65
Atrial septal defect OMIM:618109
Filippi Syndrome
Ventricular septal defect OMIM:272440
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Hypertension, Pulmonic stenosis, Tetr... OMIM:610205
Thanatophoric Dysplasia Type 1
Polyhydramnios, Atrial septal defect, Redundant skin, Patent ductus arteriosus, Increased nuchal ... ORPHA:1860
Microgastria-Limb Reduction Defects Association
Secundum atrial septal defect, Type I truncus arteriosus OMIM:156810
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Dry skin OMIM:614576
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Bicu... ORPHA:329224
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Polyhydramnios, Atrial septal defect, Facial hypotonia OMIM:611087
Isolated Klippel-Feil Syndrome
Webbed neck, Spina bifida, Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Weill-Marchesani Syndrome
Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis, Ventricular septal defect ORPHA:3449
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Burn-Mckeown Syndrome
Atrial septal defect, Hypomimic face, Ventricular septal defect OMIM:608572
Paroxysmal Nocturnal Hemoglobinuria
Angina pectoris, Pulmonary embolism, Myocardial infarction, Pulmonary arterial hypertension, Tran... ORPHA:447
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Pallor, Intracranial hemorrhage ORPHA:3226
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor ORPHA:75564
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Camptodactyly, Atrial septal defect, Ventricular septal defect OMIM:617360
Even-Plus Syndrome
Patent foramen ovale, Atrial septal defect, Oligohydramnios OMIM:616854
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Pleural effusion, Pedal edema, Epistaxis, Congestive heart ... ORPHA:33226
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Digeorge Syndrome
Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic arch, Ventr... OMIM:188400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Arrhythmia, Ventricular septal defect, Pericardial ... ORPHA:26793
Developmental And Epileptic Encephalopathy 90
Limb hypertonia, Atrial septal defect OMIM:301058
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia,... ORPHA:500159
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect, Camptodactyly, Aortic root aneurysm, Mitral regu... OMIM:301039
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta ORPHA:2475
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Webbed neck, Ventricular septal defect OMIM:616559
Serkal Syndrome
Pulmonic stenosis, Congenital diaphragmatic hernia, Oligohydramnios, Ventricular septal defect ORPHA:139466
Primary Myelofibrosis
Purpura, Petechiae, Portal hypertension, Pallor, Ecchymosis ORPHA:824
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrophic cardiomyopathy ORPHA:255241
Hereditary Spherocytosis
Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Trisomy 13
Hydrops fetalis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:3378
Gastrointestinal Defects And Immunodeficiency Syndrome
Polyhydramnios, Psoriasiform dermatitis, Hematochezia, Ventricular septal defect OMIM:243150
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Teebi Hypertelorism Syndrome
Atrial septal defect, Ventricular septal defect OMIM:145420
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Supraventricular tachycardia with an accessory connection mediated pathway,... ORPHA:404443
Chromosome 14Q11-Q22 Deletion Syndrome
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:613457
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Noonan Syndrome 3
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Webbed neck, Patent ductus arter... OMIM:609942
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Methimazole Embryofetopathy
Polyhydramnios, Abnormal aortic morphology, Coarctation of aorta, Ventricular septal defect ORPHA:1923
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrioventricular canal defect, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect OMIM:600123
3P25.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coronary artery athero... ORPHA:435638
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Atrial septal defect, Coarctation of aorta OMIM:614857
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Misalignment of the pulmonary veins, Pulmonary insufficiency, Patent ductus arter... OMIM:265380
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Epistaxis, Predominantly lower limb lymphedema, Upper eyelid edema, Pat... ORPHA:293939
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Patent ductus arteriosus, Bicuspid aort... OMIM:615009
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Oligohydramnios, Ventricular septal defect, Do... ORPHA:2255
3C Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricu... ORPHA:7
Mosaic Trisomy 9
Polyhydramnios, Camptodactyly of finger, Spina bifida, Atrial septal defect, Hydrops fetalis, Oli... ORPHA:99776
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Suleiman-El-Hattab Syndrome
Patent foramen ovale, Webbed neck, Atrial septal defect, Ventricular septal defect OMIM:618950
Noonan Syndrome 13
Atrial septal defect, Lymphedema, Webbed neck, Mitral valve prolapse, Mitral regurgitation, Dry skin OMIM:619087
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... ORPHA:542306
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect OMIM:614886
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Atrial septal defect, Dermal translucency, Ventricular septal defect, Thin skin, Webbed neck, Pat... OMIM:617506
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Atrial septal defect, Patent ductus arteriosus, Cor triatriatum, Pulmonic stenosis, Pulmonary art... OMIM:612541
Sotos Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:117550
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Ventricular septal defect ORPHA:2256
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Atrial septal defect, Truncus arteriosus ORPHA:2538
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Tendon rupture, Aortic regurgitation, Abnormal heart valve morphology, Thin... ORPHA:230851
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Camptodactyly, Patent foramen ovale, Mitral valve prolapse, Mitral regurgitation OMIM:615539
Dominant Beta-Thalassemia
Arrhythmia, Hypoplasia of the musculature, High-output congestive heart failure, Dilated cardiomy... ORPHA:231226
Ogden Syndrome
Atrial septal defect, Facial wrinkling, Arrhythmia, Ventricular septal defect, Redundant skin, Cu... OMIM:300855
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect ORPHA:521308
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Hypertension, Atrioventric... ORPHA:371428
Noonan Syndrome 4
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Webbed neck, Pulmonic stenosis, ... OMIM:610733
Mental Retardation, Buenos Aires Type
Atrial septal defect OMIM:249630
Diamond-Blackfan Anemia 7
Polyhydramnios, Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defe... OMIM:612562
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Pallor, Facial erythema ORPHA:439218
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Atrial septal defect ORPHA:89844
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Aica-Ribosuria Due To Atic Deficiency
Atrial septal defect OMIM:608688
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Recombinant 8 Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Redundant skin, Patent ... ORPHA:96167
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Ventricular septal defect, Thin skin, Camptodactyly, Congenital diaphragmat... OMIM:617602
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect OMIM:608571
Kniest-Like Dysplasia, Lethal
Polyhydramnios, Atrial septal defect, Arrhythmia, Patent ductus arteriosus, Edema OMIM:245190
Insulin-Like Growth Factor I, Resistance To
Patent foramen ovale, Webbed neck, Atrial septal defect, Ventricular septal defect OMIM:270450
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Abnormal left ventricular function, Hypertension, Myocardial infarction... ORPHA:892
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Paternal Uniparental Disomy Of Chromosome 5
Polyhydramnios, Secundum atrial septal defect ORPHA:96190
Catel-Manzke Syndrome
Ventricular septal defect, Coarctation of aorta, Camptodactyly, Umbilical hernia, Dextrocardia, O... OMIM:616145
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormal left ventricular function, Patent ductus arteriosus, Cardiomegaly, Aortic root aneurysm,... ORPHA:91387
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Hypertrophic... OMIM:612938
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Lujan-Fryns Syndrome
Camptodactyly of finger, Atrial septal defect ORPHA:776
Seckel Syndrome 9
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Con... OMIM:616777
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Webbed neck, Pleural effusion, Flexio... OMIM:616897
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Atrial septal defect, Flexion contracture of finger, Ventricular septal ... OMIM:602782
Noonan Syndrome 7
Pulmonic stenosis, Atrial septal defect, Webbed neck, Hypertrophic cardiomyopathy OMIM:613706
Costello Syndrome
Polyhydramnios, Macroglossia, Thickened Achilles tendon, Ventricular septal defect, Redundant ski... ORPHA:3071
Chromosome 9P Deletion Syndrome
Heart murmur, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:158170
Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Epilepsy, Early-Onset, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Mitral st... OMIM:617660
Kapur-Toriello Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... OMIM:244300
Prune Belly Syndrome
Oligohydramnios, Abnormal heart morphology, Patent ductus arteriosus, Xerostomia, Aplasia of the ... OMIM:100100
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:369929
Retinitis Pigmentosa 51
Pallor OMIM:613464
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Aort... OMIM:601808
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Torticollis, Cardiomegaly, Overridin... OMIM:617022
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Diamond-Blackfan Anemia 1
Atrial septal defect, Ventricular septal defect, Webbed neck, Tricuspid stenosis, Congestive hear... OMIM:105650
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Webbed neck, Joint contracture of the 5th finger, Umbilical hernia, Pulmon... OMIM:618914
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Umbilical hernia, Pulmonic stenosis, Right atrial enlargement, R... OMIM:616028
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Chromosome 6Pter-P24 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Pate... OMIM:612582
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Aplasia/Hypoplasia of t... ORPHA:1926
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Umbilic... OMIM:201000
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dehydration, Edema, Cardiac arrest, Dilated cardiomyopathy, Pallor ORPHA:20
Beta-Thalassemia Major
Arrhythmia, Hypoplasia of the musculature, High-output congestive heart failure, Dilated cardiomy... ORPHA:231214
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Webbed neck, Patent ductus arteriosus, Pulmonic stenosis, Double outlet rig... OMIM:618223
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Desbuquois Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... ORPHA:1425
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration OMIM:617808
Stevenson-Carey Syndrome
Left superior vena cava draining to coronary sinus, Camptodactyly, Atrial septal defect, Joint co... OMIM:611961
Myopathy, Mitochondrial, And Ataxia
Distal amyotrophy, Pallor, Increased variability in muscle fiber diameter OMIM:617675
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Johnson Neuroectodermal Syndrome
Right aortic arch, Patent ductus arteriosus, Facial palsy, Ventricular septal defect OMIM:147770
Femoral-Facial Syndrome
Pulmonic stenosis, Truncus arteriosus, Ventricular septal defect OMIM:134780
Myelofibrosis
Pallor, Purpura OMIM:254450
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Ventricular septal defect, Lymphedema, Pleural effusion, Pericardial effusi... OMIM:235510
Hardikar Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Coarctation of ao... OMIM:612726
Woods Syndrome
Ventricular septal defect OMIM:615236
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Facial hypotonia, Oligohydramnios, Hematochezia, Hypoplastic aortic arch, A... ORPHA:261311
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Trisomy 1Q
Polyhydramnios, Camptodactyly of finger, Hydrops fetalis, Ventricular septal defect, Patent ductu... ORPHA:261344
Ogden Syndrome
Cardiogenic shock, Arrhythmia, Ventricular septal defect, Cutis laxa, Torticollis, Pulmonary arte... ORPHA:276432
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Melena ORPHA:98870
Spondylo-Ocular Syndrome
Webbed neck, Facial hypotonia, Ventricular septal defect ORPHA:85194
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Macroglossia, Atrial septal defect, Palpebral edema, Camptodactyly, Patent ductus arteriosus ORPHA:397709
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Supraventricular arrhythmia, Intracranial hemorrhage, Pleural effusion, Vasculiti... ORPHA:3260
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Macroglossia, Transposition of the great arteries OMIM:616789
Spondyloocular Syndrome
Mitral valve prolapse, Atrial septal defect, Webbed neck OMIM:605822
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Spina bifida occulta, P... OMIM:301030
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Edema, Patent ductus arteriosus, Polyhydramnios OMIM:607143
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
17Q23.1Q23.2 Microdeletion Syndrome
Pulmonary arterial hypertension, Atrial septal defect, Patent ductus arteriosus, Congenital contr... ORPHA:261279
Chromosome 10Q26 Deletion Syndrome
Webbed neck, Atrial septal defect, Patent ductus arteriosus OMIM:609625
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect ORPHA:2328
19P13.12 Microdeletion Syndrome
Arrhythmia, Atrial septal defect, Arthrogryposis multiplex congenita, Aortic regurgitation, Ventr... ORPHA:254346
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atrial septal defect ORPHA:896
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Pallor, Skin ulcer, High-output congestive heart failure ORPHA:231222
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Dehydration, Edema, Pallor ORPHA:134
Potocki-Lupski Syndrome
Patent foramen ovale, Atrial septal defect OMIM:610883
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Meckel Syndrome, Type 4
Meningocele, Atrial septal defect, Ventricular septal defect OMIM:611134
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect OMIM:617159
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, ... ORPHA:1727
Irida Syndrome
Pallor ORPHA:209981
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Blackfan-Diamond Anemia
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Webbed neck, Nonimmun... ORPHA:124
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Sepsis In Premature Infants
Purpura, Hypotension, Bradycardia, Petechiae, Tachycardia, Edema, Pallor ORPHA:90051
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Oligohydramnios, Ventricular septal defect, Abnormal heart morphology, Comple... ORPHA:508488
Alternating Hemiplegia Of Childhood
Arrhythmia, Facial hypotonia, Cardiac conduction abnormality, Dehydration, Abnormal T-wave, Pallo... ORPHA:2131
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Facial hypotonia OMIM:614526
Proximal Spinal Muscular Atrophy
Atrial septal defect, Facial diplegia, Flexion contracture, Quadriceps muscle weakness, Triceps w... ORPHA:70
Dravet Syndrome
Pallor ORPHA:33069
Oculoectodermal Syndrome
Atrial septal defect, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Transient ische... OMIM:600268
Brachydactyly, Type B1
Camptodactyly, Joint contracture of the hand, Ventricular septal defect OMIM:113000
X-Linked Intellectual Disability, Nascimento Type
Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Pulmonary arterial hyperten... ORPHA:163956
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Umbilical hernia, Ventricular septal defect ORPHA:2143
Holt-Oram Syndrome
Small thenar eminence, Ventricular septal defect, Secundum atrial septal defect, Patent ductus ar... OMIM:142900
Hereditary Folate Malabsorption
Pallor, Skeletal muscle atrophy ORPHA:90045
Phace Association
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Vascular dilatation, Coar... OMIM:606519
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Patent ductus arteriosus, Vascular dilatation, Arterial stenosis, Dry skin ORPHA:2637
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Persistent left superior vena cava, Bradycardia,... OMIM:618775
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Retinitis Pigmentosa 75
Pallor OMIM:617023
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Atrial septal defect, Ventricul... ORPHA:457279
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:220500
Lethal Kniest-Like Dysplasia
Polyhydramnios, Atrial septal defect, Edema ORPHA:2347
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Ao... ORPHA:2306
Syndromic Diarrhea
Atrial septal defect, Aortic regurgitation, Ventricular septal defect, Abnormal heart morphology,... ORPHA:84064
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Arterial tortuosity, Atrial septal defect, Dermal translucenc... OMIM:609192
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Heart murmur, Atrial septal defect ORPHA:2728
Loeys-Dietz Syndrome 2
Generalized arterial tortuosity, Camptodactyly, Patent ductus arteriosus, Dilatation of mesenteri... OMIM:610168
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Vascular dilatation, Ventricular septal defect OMIM:219730
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Ventricular septal defect, Abnormal heart morphology, Camptodactyly, Umbilical hern... ORPHA:369891
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Phaver Syndrome
Camptodactyly of finger, Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta... ORPHA:2876
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Pancreatic lymphangiectasis, Ventricular septal defect, Lymphedema, Redundant nec... OMIM:235255
Refractory Anemia With Excess Blasts
Anemic pallor, Palpitations, Retinal hemorrhage ORPHA:86839
Cold Agglutinin Disease
Pallor ORPHA:56425
Alagille Syndrome
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Hypertensi... ORPHA:52
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular septal defect OMIM:613404
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Weiss-Kruszka Syndrome
Ventricular septal defect, Dextrotransposition of the great arteries, Left ventricular hypertroph... OMIM:618619
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Abnormal pericardium morphology, Congenital diap... ORPHA:1335
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d... OMIM:309520
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Atrial septal defect, Flexion contracture, Patent ductus arteriosus, Congestive hea... OMIM:617303
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia, Umbilical hernia, Ventricular septal de... ORPHA:1488
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow flexion contracture, Atrial septal defect, Patent ductus arteriosus, Knee flexion contracture OMIM:618162
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect, Abnormal left vent... OMIM:301056
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Psoriasiform dermatitis, Ventricular septal defect OMIM:615508
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Atrial septal defect, Abnormal heart morphology, Flexion contracture, Patent ductus... ORPHA:505248