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Gene: Ate1 MGI:1333870

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Gene Summary

Name:
arginyltransferase 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal pancreas morphology Ate1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal heart morphology Ate1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal seminal vesicle morphology Ate1em1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Ate1em1(IMPC)Ccpcz HOM   Early adult 0.00
enlarged heart Ate1em1(IMPC)Ccpcz HET Early adult 0.00

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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.

X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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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
Ethanolaminosis
Cardiomegaly OMIM:227150
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... ORPHA:90064
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck OMIM:601355
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Scimitar Syndrome
Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Sing... ORPHA:185
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... ORPHA:980
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect, Webbed neck ORPHA:2516
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Adams-Oliver Syndrome 6
Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension OMIM:616589
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ... ORPHA:3426
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios ORPHA:1909
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy, Pallor OMIM:613561
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic... OMIM:601186
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulmonic stenosis,... OMIM:615415
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Congenital Myopathy 11
Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Weakness of facial musculature, P... OMIM:619967
Emanuel Syndrome
Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Pate... OMIM:609029
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Pallor, Oligohydramnios ORPHA:163596
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Emanuel Syndrome
Redundant neck skin, Ventricular septal defect, Truncus arteriosus, Multiple joint contractures, ... ORPHA:96170
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Transaldolase Deficiency
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Atrial s... ORPHA:101028
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Congenital Gerbode Defect
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... ORPHA:99095
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... OMIM:601927
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios OMIM:615731
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... OMIM:600001
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect OMIM:615583
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... OMIM:126320
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... ORPHA:99050
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Pulmonary embolism, Venous ... ORPHA:90308
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent duc... OMIM:618652
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Webbed neck, Pleural effusio... OMIM:615355
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... OMIM:616276
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Peripheral Cone Dystrophy
Pallor OMIM:609021
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypoplasia of the ... ORPHA:3099
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Coarctation of aorta, Atrial... ORPHA:2008
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Polyhydramnios ORPHA:3469
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... OMIM:613870
Evans Syndrome
Pallor, Syncope, Epistaxis, Petechiae ORPHA:1959
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
American Trypanosomiasis
Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia, Achalasia ORPHA:3386
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... ORPHA:363705
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Optic Atrophy 1
Pallor OMIM:165500
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Polyhydramnios, Patent ductus arteriosus, Flexi... OMIM:616867
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Palmoplantar cutis laxa OMIM:618499
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Pallor ORPHA:90037
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hypertrophic car... OMIM:615279
Breath-Holding Spells
Pallor OMIM:607578
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis ORPHA:615
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... OMIM:608978
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... ORPHA:2847
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Pa... ORPHA:1120
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios OMIM:263630
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Atri... ORPHA:261330
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Cardiac Valvular Dysplasia 1
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... OMIM:212093
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Idiopathic Pulmonary Hemosiderosis
Heart murmur, Pallor, Diffuse alveolar hemorrhage, Cardiomegaly ORPHA:99931
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Macroglossia,... OMIM:615668
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... OMIM:249270
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... OMIM:300887
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a... OMIM:616866
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Pallor OMIM:609053
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal heart valve morphology, Patent ductus arteriosus, Thin skin, Aorti... ORPHA:98892
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ... ORPHA:3405
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:99811
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Oligohydramnios, Polyhydramnios, Aortic regurgitation OMIM:615476
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis OMIM:618624
Thanatophoric Dysplasia Type 2
Encephalocele, Redundant skin, Polyhydramnios, Patent ductus arteriosus, Increased nuchal translu... ORPHA:93274
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Spin... ORPHA:567
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati... OMIM:208540
Hemoglobin D Disease
Pallor ORPHA:90039
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy... OMIM:607598
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Spina... ORPHA:508498
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Webbed neck, Atrial ... OMIM:618316
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen... OMIM:616564
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia, Dry skin ORPHA:1035
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... OMIM:235200
Atelis Syndrome 1
Atrial septal defect, Dry skin, Ventricular septal defect OMIM:620184
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Thanatophoric Dysplasia
Redundant skin, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Atrial s... ORPHA:2655
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Noonan Syndrome 5
Polyhydramnios, Webbed neck, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic ca... OMIM:611553
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... ORPHA:97214
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Atrial septal ... ORPHA:500533
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Abn... ORPHA:99104
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, P... ORPHA:2519
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th finger, Atrial se... ORPHA:352490
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... OMIM:306955
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart OMIM:618142
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Mitral regurgitation, Neonatal d... OMIM:620244
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... ORPHA:210122
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Dohle Bodies And Leukemia
Secundum atrial septal defect, Lymphedema OMIM:223350
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Hypertrophic cardiomyopathy, Redundant neck skin, Patent ductus arteriosus ORPHA:1842
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete... ORPHA:1329
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Telangiectasia, Atrial... OMIM:606003
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura... OMIM:617397
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Pallor ORPHA:90033
Congenital Myopathy 8
Cardiomegaly OMIM:618654
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Prune Belly Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A... ORPHA:2970
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:619769
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Pallor OMIM:600462
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, I... OMIM:618870
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:290
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... ORPHA:3097
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Arterial rupture, Dermal translucency OMIM:619115
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... OMIM:616843
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida ORPHA:2476
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Vasculitis, ... ORPHA:33226
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Pallor, Lymphedema ORPHA:3226
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... OMIM:612474
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... OMIM:601346
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve OMIM:617744
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Cardiomegaly ORPHA:858
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Polyhydramnios ORPHA:466926
Kagami-Ogata Syndrome
Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Flexion con... OMIM:608149
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Pate... OMIM:605275
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Branchial cyst, Ventricular septal defect, Complete atrioventricular... ORPHA:508488
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... ORPHA:555874
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... OMIM:121050
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Abnormal heart mo... OMIM:618494
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Tyshchenko Syndrome
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Pancreatitis, Hereditary
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency OMIM:167800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness,... OMIM:615156
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Endocardial fibroel... OMIM:212140
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor ORPHA:75564
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Limb hypertonia OMIM:301058
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale, Oligohydramnios OMIM:616854
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal aortic ... ORPHA:1166
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Vascular ring, Knee flexion contracture, Mitr... OMIM:603387
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart... ORPHA:363444
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... OMIM:265380
Primary Myelofibrosis
Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Oligohydramnios, Atrial se... OMIM:267010
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... OMIM:270100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho... ORPHA:254534
17Q12 Microduplication Syndrome
Atrial septal defect, Polyhydramnios ORPHA:261272
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... ORPHA:88630
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:269920
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Dry skin OMIM:614576
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Retinitis Pigmentosa 51
Pallor OMIM:613464
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of a... OMIM:614857
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia OMIM:619909
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:500159
Thanatophoric Dysplasia Type 1
Redundant skin, Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucency, Excessiv... ORPHA:1860
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Megalencephaly
Atrial septal defect ORPHA:2477
Noonan Syndrome 9
Webbed neck, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Hereditary Spherocytosis
Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Aortic root aneurysm, Mitral regurgitation, Camptodactyly, Atrial sept... OMIM:301039
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Webbed neck ORPHA:2345
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... ORPHA:26793
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Polyhydramnios ORPHA:96190
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Facial hypotonia, Polyhydramnios OMIM:611087
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly OMIM:614846
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Congenital muscular torticollis, Truncus arteriosus ORPHA:2538
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Webbed neck OMIM:618950
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, U... OMIM:615879
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Limb hyperton... OMIM:620070
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Macular edema, Abnormal left ventricular function, Cardiomyop... ORPHA:892
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort... OMIM:615009
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... OMIM:619542
Dominant Beta-Thalassemia
Hypoplasia of the musculature, High-output congestive heart failure, Dilated cardiomyopathy, Skin... ORPHA:231226
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Umbili... OMIM:612582
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect, Arthrogryposis mul... OMIM:208085
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Lim... OMIM:620327
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Polyhydramnios, Coarctation of aorta ORPHA:1923
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios ORPHA:139466
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Snijders Blok-Campeau Syndrome
Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Epistaxis, Patent ductus arteriosus, Upper eyelid edema, Pat... ORPHA:293939
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... ORPHA:230851
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... ORPHA:435638
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Dry skin, Pulmonic stenosis OMIM:618282
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... ORPHA:2255
Dravet Syndrome
Pallor ORPHA:33069
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta ORPHA:2475
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu... OMIM:612863
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Edema, Dilated cardiomyopathy, Dehydration, Pallor, Hypotension ORPHA:20
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hyp... OMIM:617506
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Hypomimic face OMIM:608572
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Trisomy 13
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydrops fetalis ORPHA:3378
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of th... ORPHA:2470
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor OMIM:617675
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Frontal encephalocele ORPHA:521308
Noonan Syndrome 3
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Webbe... OMIM:609942
Neuraminidase Deficiency
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Congenital Dyserythropoietic Anemia Type Iii
Melena, Pallor ORPHA:98870
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... OMIM:201475
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Atrial septal defect OMIM:611134
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Myelofibrosis
Pallor, Purpura OMIM:254450
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Irida Syndrome
Pallor ORPHA:209981
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy... OMIM:300963
Beta-Thalassemia Major
Hypoplasia of the musculature, High-output congestive heart failure, Dilated cardiomyopathy, Skin... ORPHA:231214
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Sm... OMIM:105650
Noonan Syndrome 13
Lymphedema, Mitral valve prolapse, Mitral regurgitation, Webbed neck, Atrial septal defect, Dry skin OMIM:619087
Noonan Syndrome 4
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Webbed neck, Atrial septal defect, ... OMIM:610733
Fumarase Deficiency
Ascites, Perimembranous ventricular septal defect, Pallor, Polyhydramnios OMIM:606812
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Adams-Oliver Syndrome 5
Right atrial enlargement, Umbilical hernia, Pulmonic stenosis, Pulmonary arterial hypertension, P... OMIM:616028
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve OMIM:617751
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:7
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... OMIM:616897
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina bifida, Polyhydra... ORPHA:99776
Recombinant 8 Syndrome
Ventricular septal defect, Redundant skin, Camptodactyly of finger, Pulmonary artery stenosis, Pa... ORPHA:96167
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Joint contracture of the 4th finger, Joint contracture of the 5th finger, ... OMIM:618914
Houge-Janssens Syndrome 3
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect OMIM:618354
Beta-Thalassemia Intermedia
High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer ORPHA:231222
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Mitral valve prolapse, Mitral regurgitation, Camptodactyly, Patent foramen ovale OMIM:615539
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Coarctation of aorta OMIM:620210
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary emboli... ORPHA:3260
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration OMIM:617808
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Facial hypotonia, Abnormal cardiac ventricle morphology, Hypopl... ORPHA:261311
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Polyhydramnios ORPHA:2256
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Spina bifida occulta, Joint contracture of t... OMIM:201000
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Costello Syndrome
Ventricular septal defect, Redundant skin, Polyhydramnios, Lack of skin elasticity, Mitral valve ... ORPHA:3071
Beta-Ketothiolase Deficiency
Edema, Dehydration, Hypertension, Pallor, Hypotension ORPHA:134
Sepsis In Premature Infants
Tachycardia, Edema, Pallor, Bradycardia, Hypotension, Petechiae, Purpura ORPHA:90051
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pallor ORPHA:90045
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:220500
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Webbed neck OMIM:613706
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Seckel Syndrome 9
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Pulmonary artery hypo... OMIM:616777
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T... ORPHA:2131
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr... OMIM:618027
Diabetic Embryopathy
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphis... ORPHA:1926
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Coarctation of aorta... ORPHA:124
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow... OMIM:602782
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus OMIM:614886
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology ORPHA:485405
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Refractory Anemia With Excess Blasts
Palpitations, Anemic pallor, Retinal hemorrhage ORPHA:86839
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly OMIM:255120
Lujan-Fryns Syndrome
Atrial septal defect, Camptodactyly of finger ORPHA:776
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Thyroid lymph... OMIM:235510
Down Syndrome
Redundant neck skin, Ventricular septal defect, Complete atrioventricular canal defect, Patent du... OMIM:190685
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... ORPHA:1425
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... OMIM:244300
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Digeorge Syndrome
Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Umbilical hernia, T... OMIM:188400
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... OMIM:615710
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Umbilical hernia, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu... OMIM:601808
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Camptodactyly OMIM:614815
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... OMIM:158170
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect ORPHA:398156
Woods Syndrome
Ventricular septal defect OMIM:615236
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Stevenson-Carey Syndrome
Atrial septal defect, Joint contracture of the hand, Left superior vena cava draining to coronary... OMIM:611961
Ogden Syndrome
Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cutis laxa, Cardiogenic shock,... ORPHA:276432
Filippi Syndrome
Ventricular septal defect OMIM:272440
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral st... OMIM:617660
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Macroglossia, Arthrogryposis-like hand anom... ORPHA:369891
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Intellectual Developmental Disorder, Autosomal Dominant 47
Increased nuchal translucency, Ventricular septal defect OMIM:617635
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... ORPHA:254346
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Webbed neck OMIM:270450
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Cold Agglutinin Disease
Pallor ORPHA:56425
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly ORPHA:42
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defe... OMIM:617360
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
Trisomy 1Q
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... ORPHA:261344
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus, Polyhydramnios ORPHA:1790
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Flexion contracture, Ventricular septal defect OMIM:617452
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia OMIM:617450
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Patent ductus arteriosus, Achilles tendon contra... ORPHA:363528
Pseudo-Torch Syndrome 1
Umbilical hernia, Patent ductus arteriosus, Patent foramen ovale, Petechiae OMIM:251290
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria... ORPHA:2637
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial f... OMIM:253800
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta, Aortic root ane... OMIM:617602
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat... ORPHA:1335
Waardenburg Syndrome Type 3
Atrial septal defect, Camptodactyly of finger ORPHA:896
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Patent ductus arteriosus, Joint contracture, Polyhydramnios OMIM:618005
Shashi-Pena Syndrome
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Limb hypertonia OMIM:617190
Retinitis Pigmentosa 75
Pallor OMIM:617023
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis OMIM:603903
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect, Webbed neck ORPHA:85194
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Palpebral edema, Patent ductus arteriosus, Macroglossia, Camptodactyly, Atrial septal defect ORPHA:397709
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Congenital contr... ORPHA:261279
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ambiguous genitalia, Ventricular septal defect OMIM:615503
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atresia, Patent foramen ova... OMIM:620113
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Esophageal Atresia
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Pallor, Tetralogy of Fallot ORPHA:1199
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect, Contracture of the proximal interphalangeal ... OMIM:618109
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Imerslund-Gräsbeck Syndrome
Tachycardia, Pallor ORPHA:35858
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Abnormal left ventricular functio... OMIM:301056
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Limb joint contracture, Ventricular septal defect ORPHA:505237
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... ORPHA:57777
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Dry skin, Pul... ORPHA:163956
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis, Pallor OMIM:266200
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Pallor, Hypotension ORPHA:98849
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... ORPHA:1908
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Cutis ... OMIM:123700
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo... OMIM:617022
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Anterior encephalocele OMIM:601357
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co... ORPHA:2876
De Barsy Syndrome
Decreased muscle mass, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ar... ORPHA:2962
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Tarp Syndrome
Subdural hemorrhage, Neonatal death, Atrial septal defect, Tetralogy of Fallot, Oligohydramnios OMIM:311900
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma... OMIM:610443
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu... OMIM:618223
Brachydactyly, Type B1
Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contracture, Abnormal heart morphology... ORPHA:314588
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Facial hypotonia OMIM:614526
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin ORPHA:91355
Syndromic Diarrhea
Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:84064
Pituitary Apoplexy
Hypertension, Pallor, Hypotension ORPHA:95613
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas m... ORPHA:449432
Mosaic Trisomy 16
Ventricular septal defect, Large placenta, Patent ductus arteriosus, Coarctation of aorta, Abnorm... ORPHA:1708
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor, Edema ORPHA:329971
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:1488
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... OMIM:142900
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C... OMIM:264480
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Alagille Syndrome
Telangiectasia of the skin, Ventricular septal defect, Hypertension, Atrial septal defect, Spina ... ORPHA:52
Mogs-Cdg
Pulmonary edema, Polyhydramnios, Edema, Cardiomegaly, Atrial septal defect, Left ventricular hype... ORPHA:79330
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Edema OMIM:618348
Pelger-Huet Anomaly
Umbilical hernia, Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness OMIM:169400
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ... OMIM:300855
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Hypertrophic cardiomyopathy, Flexion contracture OMIM:619383
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale OMIM:614961
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Polyhydramnios, Situs inversus totalis OMIM:202650
Degcags Syndrome
Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Patent ductus ... OMIM:619488
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... ORPHA:64744
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Webbed neck OMIM:609625
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Patent ductus arter... ORPHA:354
Diaphragmatic Hernia 4, With Cardiovascular Defects
Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhyd... OMIM:620025
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... ORPHA:2473
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a... ORPHA:1600
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Patent ductus arteriosus, Flexion contracture, Macroglossia, Atrial sep... OMIM:617303
19Q13.11 Microdeletion Syndrome
Dry skin, Ventricular septal defect, Thin skin ORPHA:217346
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Heart murmur ORPHA:2728
Alazami Syndrome
Atrial septal defect ORPHA:319671
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Lethal Kniest-Like Dysplasia
Atrial septal defect, Polyhydramnios, Edema ORPHA:2347
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:145420
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, Lymphed... OMIM:235255
Infection-Related Hemolytic Uremic Syndrome
Edema, Myocarditis, Hypertension, Pleural empyema, Pallor, Hypertensive crisis, Generalized edema ORPHA:544482
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Ventricular septal defect, Vascular dilatation OMIM:219730
Elliptocytosis 1
Pallor OMIM:611804
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Fg Syndrome Type 1
Progressive flexion contractures, Facial wrinkling, Coarctation of aorta, Mitral valve prolapse, ... ORPHA:93932
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s... OMIM:117550
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Flexion... ORPHA:505248
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Redundant skin, Lymphedema, Excessive wrinkled skin, Pulmonic st... ORPHA:1340
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle, Ascites, Dehydration ORPHA:1667
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Interrupted aortic arch, Limb... OMIM:616920
7Q31 Microdeletion Syndrome
Atrial septal defect, Skeletal muscle atrophy, Torticollis, Patent ductus arteriosus after birth ... ORPHA:251061
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Increased nuchal ... ORPHA:79345
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis, Camptodactyly ORPHA:459061
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Bohring-Opitz Syndrome
Ventricular septal defect, Polyhydramnios, Flexion contracture, Cutis laxa, Camptodactyly, Atrial... OMIM:605039
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Camptodactyly OMIM:619980
Al Kaissi Syndrome
Atrial septal defect, Torticollis OMIM:617694
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect OMIM:616449
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proximal interpha... OMIM:300998
Aceruloplasminemia
Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration ORPHA:48818
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Oculoectodermal Syndrome
Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Atrial sep... OMIM:600268
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m... ORPHA:261197
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Atrial septal defect, Flexion contracture, Dilation of Virchow-Robin spaces, Bicuspid aortic valve OMIM:619720
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Webbed neck, Atrial septal defect,... ORPHA:209905
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Increased nuchal translucency OMIM:620183
Zaki Syndrome
Patent ductus arteriosus, Patent foramen ovale, Congenital diaphragmatic hernia OMIM:619648
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Patent ductus arteriosus, Abnormal heart morphology, Hematochezia, M... ORPHA:79076
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... OMIM:614921
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Edema OMIM:607143
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Arrhythmia, Patent foramen ovale OMIM:619184
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hyper... OMIM:100300
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Ventricular septal defect ORPHA:79243
Buratti-Harel Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619314
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d... OMIM:309520
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Patent foramen ovale OMIM:614868
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Childhood Absence Epilepsy
Pallor ORPHA:64280
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Ventricular septal defect, Aortic root aneurysm, Mitral ... OMIM:615582
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:77298
Prolactinoma
Pallor, Hypotension ORPHA:2965
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ... ORPHA:1780
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology ORPHA:1292
Wiedemann-Steiner Syndrome
Atrial septal defect, Contracture of the distal interphalangeal joint of the fingers, Patent duct... OMIM:605130
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Patent ductus arteriosus, Dextrocardia OMIM:277380
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610759
Bdv Syndrome
Atrial septal defect OMIM:619326
Fanconi Anemia, Complementation Group F
Atrial septal defect, Patent ductus arteriosus, Polyhydramnios OMIM:603467
Fanconi Anemia, Complementation Group C
Flexion contracture, Ventricular septal defect, Anemic pallor OMIM:227645
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Redundant skin, Congestive heart failure, Cutis laxa, Right bundle branc... OMIM:617403
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Letterer-Siwe Disease
Pallor OMIM:246400
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Fetal Alcohol Syndrome
Atrial septal defect, Congenital diaphragmatic hernia ORPHA:1915
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Abnormal hemid... ORPHA:2257
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hypertension OMIM:614424
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... ORPHA:79329
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Inter... ORPHA:163979
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... OMIM:616894
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... OMIM:614609
Fanconi Anemia, Complementation Group E
Anemic pallor, Abnormal heart morphology OMIM:600901
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial septal defect... OMIM:616364
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Pulmonary artery stenosis, Abnormal pulmonary valve morphology, ... ORPHA:667
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Meckel Syndrome
Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Situs inversus totalis, Cryptorchidi... ORPHA:564
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Focal Dermal Hypoplasia
Telangiectasia of the skin, Ventricular septal defect, Spina bifida, Congenital diaphragmatic her... ORPHA:2092
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Enlarged kidney OMIM:200995
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Edema, Polyhydramnios, Patent ductus arteriosus, Anencephaly, Neonatal... OMIM:269860
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy OMIM:619121
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus OMIM:619143
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
Restrictive Dermopathy
Multiple joint contractures, Dextrocardia, Polyhydramnios, Camptodactyly of finger, Large placent... ORPHA:1662
Opitz Gbbb Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal he... ORPHA:2745
Multiple Endocrine Neoplasia Type 2
Proximal amyotrophy, Palpitations, Pallor, Hypertensive crisis, Hypertension associated with pheo... ORPHA:653
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hepatocellular carcinoma, Pancreatitis, Enlarged... OMIM:232220
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Secundum atrial sept... ORPHA:2260
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of ex... ORPHA:93111
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Hypertension, Umbilical hernia OMIM:619758
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Redundant skin, Morgagni diaphragmatic hernia, Vascular dila... OMIM:613177
Radio-Tartaglia Syndrome
Dry skin, Ventricular septal defect, Striae distensae OMIM:619312
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Erythema, Flexion contracture, Retinal hemorrhage, Hypert... OMIM:614653
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Incontinentia Pigmenti
Pallor, Erythema, Retinal hemorrhage OMIM:308300
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Facial palsy, Polyhydramnios, Patent ductus arteriosus, Joint contract... OMIM:300373
Distal Deletion 10Q
Scapular winging, Patent ductus arteriosus, Facial diplegia, Atrial septal defect, Spina bifida o... ORPHA:96148
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus... OMIM:257920
Fanconi Anemia, Complementation Group A
Anemic pallor, Abnormal heart morphology OMIM:227650
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
C Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cutis laxa OMIM:211750
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur ORPHA:166035
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta OMIM:300514
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Patent ductus arteriosus, Elbow contracture, Knee flexion contracture OMIM:618162
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Macroglossia, Umb... ORPHA:96191
Frank-Ter Haar Syndrome
Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola... OMIM:249420
Congenital Tracheal Stenosis
Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct... ORPHA:141127
Lateral Meningocele Syndrome
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus... OMIM:130720
Monosomy 13Q34
Hematochezia, Common atrium, Epistaxis, Pulmonic stenosis ORPHA:96168
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Ventricular septal defect ORPHA:3078
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Jacobsen Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Labial hypoplasia, A... OMIM:147791
Restrictive Dermopathy 1
Limb joint contracture, Polyhydramnios, Patent ductus arteriosus, Flexion contracture, Hydropic p... OMIM:275210
Myopathy With Extrapyramidal Signs
Calf muscle hypertrophy, Ventricular septal defect OMIM:615673
Noonan Syndrome 1
Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Chylothora... OMIM:163950
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Increased nuchal translucency, Proximal muscle weakness in lower limbs,... ORPHA:280633
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Anemic pallor, Abnormal heart morphology OMIM:227646
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Webbed neck, ... OMIM:607721
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Hepatic ca... OMIM:608836
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... OMIM:178110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Congenital diaphragmatic hernia, Polyhydramnios OMIM:614080
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Psoriasiform dermatitis, Ventricular septal defect, Polyhydramnios OMIM:243150
8P11.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse ORPHA:251066
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Shawl scrotum, Hepatic steatosis, Exocrine p... OMIM:616263
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Wrist flexion contracture, Peripheral pulmonary artery stenosis ORPHA:436003
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta OMIM:300867
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly OMIM:619123
Chops Syndrome
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve... OMIM:616368
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Codas Syndrome
Ventricular septal defect ORPHA:1458
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Alg12-Cdg
Redundant skin, Edema, Polyhydramnios, Muscular ventricular septal defect, Patent ductus arterios... ORPHA:79324
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Arrh... ORPHA:1519
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Ventricular septal defect OMIM:300472
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Atrial sep... OMIM:263520
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Polyhydramnios, Rhabdomyosarcoma, Increased nuchal translucency, Coarctatio... ORPHA:1052
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula... OMIM:614294
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Secundum atrial septal defect, Congestive heart failure, Excessive wrink... OMIM:608779
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di... OMIM:613309
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... OMIM:612289
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:261236
Bone Marrow Failure Syndrome 3
Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617052
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudohyp... ORPHA:116
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Mitral valve prolapse... OMIM:617402
Shwachman-Diamond Syndrome 2
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency OMIM:617941
Ramos-Arroyo Syndrome
Atrial septal defect, Patent ductus arteriosus, Xerostomia ORPHA:1051
Alg9-Cdg
Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the musculature, P... ORPHA:79328
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydra... OMIM:611812
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis OMIM:614749
Duane-Radial Ray Syndrome
Upper limb muscle hypoplasia, Ventricular septal defect, Facial palsy, Small thenar eminence, Pec... OMIM:607323
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect OMIM:620194
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia ORPHA:93947
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Pancreatic lymphangiectasis, Pulm... ORPHA:1655
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia... ORPHA:3380
Trisomy 8P
Abnormal atrioventricular connection, Cryptorchidism, Abnormal left ventricle morphology, Micrope... ORPHA:264450
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor, Hydrops fetalis, Dehydration OMIM:557000
Aregenerative Anemia
Pallor ORPHA:101096
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect OMIM:620242
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Pleural effusion, Anasarca, Thir... OMIM:619573
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Heart ... OMIM:614866
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Left superior vena cava draining to coronary sinus, Atrial septal defe... ORPHA:464738
Rabson-Mendenhall Syndrome
Ventricular septal defect, Cardiomyopathy, Macroglossia, Atrial septal defect, Dry skin ORPHA:769
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Renal Agenesis
Hypertension, Ventricular septal defect, Oligohydramnios ORPHA:411709
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Thin skin, Coarctation of aorta OMIM:244450
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Congenital diaphragmatic hernia, Anencephaly, Hydrops fetalis, Atrial septal defe... OMIM:616546
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... ORPHA:228308
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Hepatic cysts, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibr... OMIM:263200
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:614377
Fibrochondrogenesis 1
Hydrops fetalis, Stillbirth, Camptodactyly, Joint contracture of the hand, Patent foramen ovale OMIM:228520
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Filippi Syndrome
Ventricular septal defect ORPHA:3255
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Dry skin, Camptodactyly ORPHA:261323
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Edema, Lymphedema, Skin ulcer, Scaling skin, Chylothorax, Atrial septal defect, Pleural effusion,... ORPHA:2526
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema OMIM:606232
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri... OMIM:612541
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctation... OMIM:618454
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T... OMIM:192430
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida,... OMIM:274000
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Cranioectodermal Dysplasia 2
Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Cutis laxa, Hypertension, Atrial septa... OMIM:613610
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Atr... ORPHA:3047
Sweeney-Cox Syndrome
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios OMIM:617746
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... OMIM:139210
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Oligohyd... ORPHA:96201
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis OMIM:615802
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Patent ductus arteriosus OMIM:300968
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Ragged-red muscle fibers,... ORPHA:17
Mosaic Trisomy 1
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... ORPHA:1692
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abno... ORPHA:536471
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Hardikar Syndrome
Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an... OMIM:301068
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... OMIM:208500
Spondyloocular Syndrome
Lymphedema, Mitral valve prolapse, Webbed neck, Atrial septal defect, Dysplastic aortic valve OMIM:605822
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:115150
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Pancreatic fibrosis, Decreased response to growth hormone stimu... ORPHA:699
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Hepatomegaly, Cardiomegaly OMIM:618143
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... ORPHA:261494
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios OMIM:600373
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Spina bifida occulta, P... OMIM:300707
Short Stature-Micrognathia Syndrome
Skeletal muscle hypertrophy, Ventricular septal defect OMIM:617164
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... ORPHA:466791
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Tr... OMIM:256520
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... OMIM:619472
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Flexion contracture, Camptodactyly OMIM:207410
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... OMIM:619534
Neurodevelopmental Disorder With Spasticity And Poor Growth
Patent ductus arteriosus, Achilles tendon contracture, Knee flexion contracture, Patent foramen o... OMIM:618076
Genitopatellar Syndrome
Atrial septal defect, Hip contracture, Arthrogryposis multiplex congenita, Knee flexion contracture ORPHA:85201
Ring Chromosome 12 Syndrome
Secundum atrial septal defect, Webbed neck ORPHA:1439
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Embryonal rhabdomyosarcoma, Pulmonic stenosis, Oligohydramnios OMIM:257300
Combined Oxidative Phosphorylation Deficiency 3
Patent ductus arteriosus, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic cardiom... OMIM:610505
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... OMIM:611174
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Costello Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Rhabdomyosarcoma, Achilles tendon... OMIM:218040
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Limb hypertonia ORPHA:457351
Donnai-Barrow Syndrome
Umbilical hernia, Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic ... OMIM:222448
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Neurocardiofaciodigital Syndrome
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus OMIM:619869
Cerebrocostomandibular Syndrome
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Elbow flexion contracture, W... OMIM:117650
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Restrictive cardiomyopathy, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:369837
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Macroglossia, Ventricular septal defect, Patent foramen ovale OMIM:613457
Distal Deletion 19P
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept... ORPHA:96121
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Camptodac... ORPHA:261337
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... ORPHA:1677
Coffin-Siris Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... ORPHA:1465
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Dilation of Virchow-Robin spaces, Camptodactyly of finger OMIM:619951
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Polysplenia, Annular p... OMIM:164280
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Dry skin, Ventricular septal defect OMIM:619306
Carpenter Syndrome 2
Diaphragmatic eventration, Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ... OMIM:614976
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Dry skin, Webbed neck, Contracture of the p... OMIM:280000
Frontometaphyseal Dysplasia 2
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Patent ductus a... OMIM:617137
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect OMIM:614207
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Cryptorchidism,... OMIM:229850
Hypothyroidism, Congenital, Nongoitrous, 5
Mitral regurgitation, Patent foramen ovale OMIM:225250
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Paten... ORPHA:464311
Ellis-Van Creveld Syndrome
Atrial septal defect, Common atrium OMIM:225500
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Pituitary growth hormone cell ... ORPHA:730
Marshall-Smith Syndrome
Ventricular septal defect, Patent ductus arteriosus, Premature ventricular contraction, Hypertens... OMIM:602535
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale OMIM:619179
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexi... OMIM:300166
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Portal hypertension, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertens... OMIM:620005
Den Hoed-De Boer-Voisin Syndrome
Dry skin, Ventricular septal defect, Oligohydramnios OMIM:619229
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... OMIM:210710
Distal Deletion 12Q
Unilateral cryptorchidism, Pituitary adenoma, Biliary atresia, Micropenis, Congenital hypertrophy... ORPHA:96149
Fanconi Anemia
Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve... ORPHA:84
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Atrial septal defect,... OMIM:301030
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... OMIM:610199
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Polyhydramnios, Patent ductus arteriosus, Flexion contracture, Elbow flexion con... OMIM:300868
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, P... ORPHA:373
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... ORPHA:2369
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia OMIM:612530
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Webbed neck, Hydranencephaly ORPHA:1393
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Atrial septal defect, Pan... OMIM:619991
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, Patent ductus arteriosus, Redundant neck skin, Ventricular septal defect OMIM:214100
Williams Syndrome
Bicuspid aortic valve, Redundant skin, Abnormal cerebral vascular morphology, Cardiomegaly, Myoca... ORPHA:904
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal defect,... OMIM:242840
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal... ORPHA:1507
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:268249
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... ORPHA:453504
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Bilateral superior vena ... OMIM:618460
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... ORPHA:352665
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am... OMIM:616268
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Arthrogryposis multiplex congenita, Webbed neck OMIM:620076
Yunis-Varon Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal tr... ORPHA:3472
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Abnormality of... ORPHA:1606
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Hypospadias, Cryptorchidism, Annular pancreas, Patent foramen ovale OMIM:616975
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:251014
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Aortic root aneurysm, Flexion contracture, Generalized limb muscle atrophy OMIM:618891
Chime Syndrome
Ventricular septal defect, Erythema, Tetralogy of Fallot, Skin ulcer, Transposition of the great ... ORPHA:3474
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... ORPHA:97360
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Facial hypotonia, Small thenar eminence, Webbed neck, Atrial septal de... OMIM:613458
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Flexion contra... OMIM:180849
Turnpenny-Fry Syndrome
Aortic regurgitation, Torticollis, Facial hypotonia, Polyhydramnios, Patent ductus arteriosus, Mi... OMIM:618371
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Polyhydramnios OMIM:213980
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple... OMIM:618278
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Large placenta, Pulmonic stenosi... OMIM:222470
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Mitral valve prolapse, Mitral reg... OMIM:601776
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Flexion contracture, Xerostomia ORPHA:398069
Jacobsen Syndrome
Ventricular septal defect, Cryptorchidism, Annular pancreas, Hypoplastic left heart, Aortic valve... ORPHA:2308
Fucosidosis
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Patent foramen ovale, Arteria lusoria, Heart murmur, Oligohydramnios OMIM:618653
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic steno... ORPHA:488632
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Foot joint contracture, Mitral valve prolapse, Ascending tubular aorta... ORPHA:444072
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... OMIM:157800
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent ductus arteriosus, Patent foramen ovale, Mitral regurgitation ORPHA:457395
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Aortic regurgitation OMIM:620072
Zellweger Syndrome
Ventricular septal defect ORPHA:912
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353281
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Macroglossia, Distal arthrog... OMIM:618268
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter... ORPHA:464306
Hajdu-Cheney Syndrome
Ventricular septal defect, Mitral stenosis, Patent ductus arteriosus, Skin ulcer, Umbilical herni... ORPHA:955
17Q12 Microdeletion Syndrome
Cryptorchidism, Shawl scrotum, Pancreatic aplasia ORPHA:261265
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Ventricular septal defect, Interphalangeal joint contracture of finger, Poly... ORPHA:96334
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Larsen Syndrome
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Aortic aneurysm OMIM:150250
Diets-Jongmans Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Interrupted inferior ... OMIM:618846
Ulnar-Mammary Syndrome
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... ORPHA:3138
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Patent ductus arterio... ORPHA:818
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Pallister-Hall Syndrome
Neonatal death, Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the... OMIM:146510
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... ORPHA:581
Okamoto Syndrome
Redundant neck skin, Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial... ORPHA:2729
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Facial palsy, Polyhydramnios, Atrial septal defect, Pulmonary arterial hypertensi... OMIM:620186
Charge Syndrome
Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... OMIM:214800
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, A... OMIM:617140
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Macroglossia, Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventric... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventric... ORPHA:363958
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava ORPHA:2886
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Cardiomyopathy, Umbilical hernia, Dry skin ORPHA:33364
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Heart murmur, Mitral valve prolapse, Abnormal heart morphology, Mitral regurgitatio... OMIM:615873
Alagille Syndrome 1
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... OMIM:118450
Gabriele-De Vries Syndrome
Facial hypotonia, Distal arthrogryposis, Patent foramen ovale, Aortopulmonary collateral arteries OMIM:617557
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Muscular dystrophy OMIM:253280
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Limb hypertonia OMIM:609460
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Congestive heart failure, Renovascular hypertension, Caro... ORPHA:391487
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios OMIM:300990
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Perianal erythema, Hypertension, Hydromyelia, Neonatal death, Scaling skin, Atrial septal defect,... OMIM:308205
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor... ORPHA:444077
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Ascending aorta hypoplasia, Flexion contracture, Facial erythema, Knee flexion con... OMIM:619503
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis ORPHA:14
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger OMIM:164200
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Joint contracture of the 5t... ORPHA:363611
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia, Redundant skin OMIM:250220
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Annular pancreas, Hypogonadism OMIM:268400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... ORPHA:353277
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... OMIM:613355
Omodysplasia 1
Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney OMIM:252500
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra... ORPHA:2162
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Polyhydramnios, Pulmonary artery stenosis, Dilatation of the ventricul... ORPHA:459070
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Oculodentodigital Dysplasia
Umbilical hernia, Arrhythmia, Ventricular septal defect, Camptodactyly of finger ORPHA:2710
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... OMIM:271640
Marden-Walker Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... ORPHA:2461
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Camptodactyly OMIM:272950
Opitz Gbbb Syndrome
Umbilical hernia, Ventricular septal defect OMIM:300000
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Facial hypotonia, Polyhydramnios, Congenital diaphragmatic hernia, Dia... OMIM:312870
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Progressive flexion contractures ORPHA:522077
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Varicose veins OMIM:617107
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Bardet-Biedl Syndrome 20
Atrial septal defect OMIM:619471
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Abnormal heart morphology, Micropenis, Hepatoblastoma, Annular pancreas ORPHA:798
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... OMIM:194050
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis, Webbed neck OMIM:601321
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Splenomegaly, Congenit... ORPHA:731
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... OMIM:301044
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Arthrogryposis multiplex congenita, Dilation of Virchow-Robin spaces OMIM:619512
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas ORPHA:488642
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Prolonged QT interval, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:881
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Hypertension, Atrial s... OMIM:270400
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Ventricular septal defect, Polyhydramnios ORPHA:436252
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep... OMIM:309500
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste... OMIM:235730
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:365
Aicardi-Goutières Syndrome
Cardiomegaly, Hepatosplenomegaly, Micropenis, Prolonged neonatal jaundice, Hypertrophic cardiomyo... ORPHA:51
Orofaciodigital Syndrome Xiv
Atrial septal defect, Occipital encephalocele, Patent ductus arteriosus, Ventricular septal defect OMIM:615948
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Hajdu-Cheney Syndrome
Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:102500
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Hypertension, Oligohydramnios OMIM:300896
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Camptodactyly, U... OMIM:616145
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmati... OMIM:154400
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v... ORPHA:500095
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Wolf-Hirschhorn Syndrome
Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart valve morphology, Congen... ORPHA:280
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, Torticollis, Total anomalous pulmonary venous return, Knee flexion contracture OMIM:609945
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Ventricular septal defect, Patent foramen ovale OMIM:613884
Penile Agenesis
Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:49
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Flexion contracture OMIM:609069
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Tricuspid regurgitation, Flexion contracture, Mitral regurgitation, L... OMIM:619127
Chilton-Okur-Chung Neurodevelopmental Syndrome
Epistaxis, Polyhydramnios, Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Limb hyp... OMIM:619841
Poland Syndrome
Encephalocele, Dextrocardia, Congenital diaphragmatic hernia, Aplasia of the pectoralis major mus... ORPHA:2911
Coffin-Siris Syndrome 1
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Spina bifid... OMIM:135900
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro... OMIM:620305
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect, Webbed neck ORPHA:434179
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Peters-Plus Syndrome
Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Pulmonic st... OMIM:261540
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Patent ductus arteriosus, F... OMIM:268300
Hydrolethalus Syndrome 1
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Anencephaly, S... OMIM:236680
Tetrasomy 9P
Pericarditis, Juxtaductal coarctation of the aorta, Myositis, Dextrocardia, Raynaud phenomenon, A... ORPHA:3310
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios OMIM:608670
Cornelia De Lange Syndrome 1
Elbow flexion contracture, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:122470
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Epididymitis, Parotitis OMIM:256040
Keutel Syndrome
Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Peripher... OMIM:245150
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Distal arthrogryposis,... ORPHA:672
Schinzel-Giedion Midface Retraction Syndrome
Atrial septal defect, Macroglossia OMIM:269150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed... OMIM:619475
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Weakness of facial musculature, Ventricular septal defect OMIM:619418
Floating-Harbor Syndrome
Coarctation of aorta, Atrial septal defect, Umbilical hernia, Mesocardia, Persistent left superio... OMIM:136140
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Transient ischemic attack, Patent ductus arteriosus after birth at term, Abnormal heart morpholog... ORPHA:500150
Wolf-Hirschhorn Syndrome
Atrial septal defect, Decreased muscle mass, Ventricular septal defect, Webbed neck OMIM:194190
Sotos Syndrome
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, ... ORPHA:821
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619522
Johanson-Blizzard Syndrome
Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A... OMIM:243800
Genitopatellar Syndrome
Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Atrial sept... OMIM:606170
Floating-Harbor Syndrome
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... ORPHA:2044
Diphallia
Atrial septal defect, Abnormal heart morphology ORPHA:227
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Townes-Brocks Syndrome
Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology... ORPHA:857
Faciocardiomelic Syndrome
Common atrium OMIM:612731
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Hepatic calcification, Myocardial ca... ORPHA:51608
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Ventricular septal defect ORPHA:1934
Cornelia De Lange Syndrome
Atrial septal defect, Increased nuchal translucency, Ventricular septal defect, Congenital diaphr... ORPHA:199
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus ORPHA:480880
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:147920
Pallister-Killian Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic ... OMIM:601803
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Spina bifida, Stillbirth, Atrial septal defect, Umbilical hernia, Dilatation o... OMIM:304120
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Townes-Brocks Syndrome 1
Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Lower-limb joint contracture, Ventricular septal defect ORPHA:513456
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect OMIM:181450
Yunis-Varon Syndrome
Redundant neck skin, Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Ca... OMIM:216340
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Secundum atrial septal defect, Subarterial ventricular septal defect... ORPHA:99646
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Patent duct... OMIM:164210
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Ventricular septal defect OMIM:620330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... ORPHA:261552

Histopathology

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

There is no histopathology data for Ate1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ate1.

No publications found that use IMPC mice or data for Ate1.

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MGI Allele Allele Type Produced
Ate1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ate1em1(IMPC)Ccpcz Exon Deletion Mice

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