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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
enlarged heart Ate1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal pancreas morphology Ate1em1(IMPC)Ccpcz HET Early adult 0.00
embryonic lethality prior to tooth bud stage Ate1em1(IMPC)Ccpcz HOM   E12.5 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

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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 Forepaw

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 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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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral 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, Supraventricular tachycardia, Abnormal capillary physiology, Limb muscle w... ORPHA:90064
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Webbed neck, Hydranencephaly OMIM:601355
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Scimitar Syndrome
Mitral atresia, Left-to-right shunt, Hypoplasia of the diaphragm, Abnormal heart morphology, Inte... ORPHA:185
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Abnormal ascending ... ORPHA:2299
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction 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
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial septal defect, Ve... ORPHA:401935
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Stroke, Cardiac arrest, Pallor, Paroxysmal atrial tachycardia, Atrial s... ORPHA:49827
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septa... OMIM:249670
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Webbed neck, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, S... OMIM:617478
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal aortic morphology, Webbed neck ORPHA:2516
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormal aortic arch morphology, Abnormality of blood circulation, Abnormal... ORPHA:860
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Adams-Oliver Syndrome 4
Umbilical hernia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Truncus arteriosus, Ventricular septal defect, Portal hypertension OMIM:616589
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricular septal defect, Pr... OMIM:253300
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Double Outlet Right Ventricle
Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aort... ORPHA:3426
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:1909
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Hypoplastic left ... OMIM:601186
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy, Pallor, Hypertrophic cardiomyopathy OMIM:613561
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Stillbirth, Truncus arteriosus, Hypertrophic cardiomyopathy, Pulmonic ste... OMIM:615415
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Congenital Myopathy 11
Polyhydramnios, Patent ductus arteriosus, Patent foramen ovale, Weakness of facial musculature, A... OMIM:619967
Emanuel Syndrome
Congenital diaphragmatic hernia, Torticollis, Truncus arteriosus, Pulmonic stenosis, Aortic valve... OMIM:609029
Partial Atrioventricular Septal Defect
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... ORPHA:1330
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricular canal defect, Abnormal he... DECIPHER:39
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Aortic aneu... OMIM:614980
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Polyhydramnios, Hydrops fetalis, Pericarditis, Pallor, Oligohydramnios ORPHA:163596
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus OMIM:617516
Transaldolase Deficiency
Hydrops fetalis, Premature skin wrinkling, Coarctation of aorta, Edema, Atrial septal defect, Biv... ORPHA:101028
Emanuel Syndrome
Congenital diaphragmatic hernia, Redundant neck skin, Multiple joint contractures, Truncus arteri... ORPHA:96170
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
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, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276556
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death, Reduced left v... OMIM:620203
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Congenital Gerbode Defect
Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis... ORPHA:99095
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Abnorm... ORPHA:1686
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Hydrops fetalis, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding ... OMIM:601927
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... OMIM:613854
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Nemaline Myopathy 9
Polyhydramnios, Ventricular septal defect, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:615731
Grange Syndrome
Aortic regurgitation, Hypertension, Arterial stenosis, Patent ductus arteriosus, Ventricular sept... ORPHA:79094
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g... OMIM:600001
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect, Branchial cyst OMIM:615583
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventri... OMIM:126320
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276575
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Car... OMIM:618652
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... ORPHA:90308
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Pallor ORPHA:276580
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hy... OMIM:616276
Noonan Syndrome 8
Polyhydramnios, Webbed neck, Ventricular septal defect, Pleural effusion, Hypertrophic cardiomyop... OMIM:615355
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... ORPHA:1880
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced... OMIM:620635
Peripheral Cone Dystrophy
Pallor OMIM:609021
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, Congenital mus... ORPHA:536516
Acrocardiofacial Syndrome
Truncus arteriosus, Camptodactyly of finger, Coarctation of aorta, Mitral stenosis, Tetralogy of ... ORPHA:2008
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Rheumatic Fever
Myocarditis, Abnormal aortic valve morphology, Abnormal heart valve morphology, Abnormal mitral v... ORPHA:3099
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defe... OMIM:108900
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal defect, Ventr... OMIM:614262
Evans Syndrome
Petechiae, Pallor, Epistaxis, Syncope ORPHA:1959
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect ORPHA:3469
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
American Trypanosomiasis
Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Achalasia, Pallor ORPHA:3386
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:619189
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... ORPHA:1457
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Flexion contracture, Patent ductus arteriosus, Tachycardia, Atrial septal defect, V... OMIM:613870
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Coarctation of aorta, Neonatal death, Patent ductus arteriosus OMIM:601612
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula... OMIM:615996
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618330
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Cutis laxa, Aortic valve stenosis, Lower eyelid edema, Arrhythmia, A... ORPHA:363705
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ... OMIM:618496
Atrial Septal Defect 1
Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ... OMIM:108800
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, ... OMIM:132900
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy ORPHA:53296
Primary Lateral Sclerosis, Juvenile
Pallor, Spasticity of facial muscles OMIM:606353
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Patent foramen ovale, Spinal muscular atrophy, Increased variability in muscle fi... OMIM:616867
Beta-Thalassemia
Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Palmoplantar cutis laxa, Hypertrophic cardiomyopathy OMIM:618499
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Cryptorchidism ORPHA:2849
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:94080
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Pallor ORPHA:90037
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy OMIM:615981
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Palpitations, Pallor, Tachycardia ORPHA:324575
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly ORPHA:615
Breath-Holding Spells
Pallor OMIM:607578
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Abnormal aortic morphology, Ventri... ORPHA:392
Cardiofaciocutaneous Syndrome 3
Webbed neck, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Ventricular se... OMIM:615279
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mitral stenosis, Abnormal hea... ORPHA:2847
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Diffuse alveolar hemorrhage, Pallor, Heart murmur ORPHA:99931
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven... OMIM:212093
Recombinant Chromosome 8 Syndrome
Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet ri... OMIM:179613
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Meacham Syndrome
Stillbirth, Transposition of the great arteries, Partial anomalous pulmonary venous return, Dextr... OMIM:608978
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Aortic aneurysm, Truncus arteriosus, Camptodactyly of finger, Atrial septal... ORPHA:261330
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Patent ductus arteriosus ORPHA:99811
Polysyndactyly With Cardiac Malformation
Stillbirth, Atrial septal defect, Ventricular septal defect, Polyhydramnios OMIM:263630
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal aortic valve morphology,... ORPHA:1120
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect, Pulmonary arterial hypertension OMIM:614475
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Chromosome 5Q12 Deletion Syndrome
Patent foramen ovale, Hypotension, Increased nuchal translucency, Patent ductus arteriosus, Atria... OMIM:615668
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase... OMIM:616866
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia, Neonatal death OMIM:615524
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven... OMIM:612946
Optic Atrophy 1
Pallor OMIM:165500
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular sep... OMIM:249270
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Ventricular hypertrophy, Pulmonary arterial hypertension, Tetral... OMIM:300887
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Periventricular Nodular Heterotopia
Aortic regurgitation, Aortic aneurysm, Abnormal heart valve morphology, Thin skin, Patent ductus ... ORPHA:98892
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Mitral regurgitation, Abnormal cardiac septum morphology ORPHA:83473
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Congenitally corrected ... OMIM:618300
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Fanconi Anemia, Complementation Group I
Atrial septal defect, Pallor, Ventricular septal defect, Patent foramen ovale OMIM:609053
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ... OMIM:619149
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Ventricular septal defect, Hypo... OMIM:618901
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, Abnormal aortic morphology,... ORPHA:3405
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Polyhydramnios, Oligohydramnios, Aortic regurgitation OMIM:615476
Noonan Syndrome 12
Polyhydramnios, Ventricular septal defect, Tetralogy of Fallot, Supravalvular aortic stenosis OMIM:618624
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Hemoglobin D Disease
Pallor ORPHA:90039
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Thanatophoric Dysplasia Type 2
Polyhydramnios, Encephalocele, Redundant skin, Increased nuchal translucency, Patent ductus arter... ORPHA:93274
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Choles... OMIM:208540
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal... OMIM:619657
22Q11.2 Deletion Syndrome
Atrial septal defect, Purpura, Tricuspid atresia, Abnormal aortic valve morphology, Abnormal aort... ORPHA:567
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Splenomegaly, Car... OMIM:235200
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Aortic regurgitation, Tr... ORPHA:508498
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Histiocytoid Cardiomyopathy
Congestive heart failure, Pulmonary edema, Wolff-Parkinson-White syndrome, Atrial flutter, Tachyc... ORPHA:137675
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Edema, Dilated cardi... OMIM:607598
Noonan Syndrome 10
Webbed neck, Ventricular septal defect, Pleural effusion, Hypertrophic cardiomyopathy, Increased ... OMIM:616564
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Webbed neck, Patent foramen ovale, Pulmonary artery atresia, Tetralogy of... OMIM:618316
Aortic Valve Disease 2
Calcification of the aorta, Aortic regurgitation, Aortic aneurysm, Patent foramen ovale, Aortic t... OMIM:614823
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ascites, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Patent ductus ... OMIM:617021
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Thanatophoric Dysplasia
Polyhydramnios, Redundant skin, Increased nuchal translucency, Patent ductus arteriosus, Atrial s... ORPHA:2655
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Dry skin, Umbilical hernia ORPHA:1035
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect, Dry skin OMIM:620184
Lymphatic Malformation 13
Patent foramen ovale, Lymphedema, Ascites, Pulmonary arterial hypertension, Neonatal death, Nonim... OMIM:620244
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Persistent left superior vena c... ORPHA:3304
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Stroke, Supraventricular arrhythmia, Transie... ORPHA:99104
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic even... OMIM:610198
Noonan Syndrome 5
Polyhydramnios, Webbed neck, Dry skin, Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhythmia... OMIM:611553
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure, Polyhydramnios, Facial hypotonia, Decreased muscle mass, Atrial septal ... ORPHA:500533
Eisenmenger Syndrome
Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Rig... ORPHA:97214
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Dohle Bodies And Leukemia
Secundum atrial septal defect, Lymphedema OMIM:223350
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the 5th finger, Congenital contracture, Abnormal heart morphology, Umbilical... ORPHA:352490
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Pulmonary arterial hypertension, Patent ductus arteriosus, Atrial septal def... ORPHA:2519
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior ven... OMIM:306955
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy OMIM:616816
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... OMIM:220210
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Asplenia, Aortic valve ... ORPHA:210122
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus OMIM:618142
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Scapular winging, Tricuspid regurgitation, Increased nuchal translucency, P... OMIM:618870
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Ragged-red muscle fibers, Generalized limb muscle atrophy, Scapular winging, Pallor OMIM:600462
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure, Pallor ORPHA:90033
Transaldolase Deficiency
Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Ventr... OMIM:606003
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis ORPHA:3449
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Nonimmune hydrops fetalis, Severely redu... OMIM:620609
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Redundant neck skin, Hypertrophic cardiomyopathy, Patent ductus arteriosus ORPHA:1842
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Pseudo-Torch Syndrome 2
Bradycardia, Petechiae, Pleural effusion, Ascites, Secundum atrial septal defect, Cerebral hemorr... OMIM:617397
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Elevated pulmonary artery pressure, Congestive heart failu... ORPHA:1329
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Tetralogy of Fallot, Patent ductus arteriosus, Atrial ... ORPHA:2970
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Umbilical hernia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:619769
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Meacham Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of the great arteries, Ven... ORPHA:3097
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:290
Waldenström Macroglobulinemia
Congestive heart failure, Purpura, Gastrointestinal hemorrhage, Vasculitis, Stroke, Pleural effus... ORPHA:33226
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema, Intracranial hemorrhage ORPHA:3226
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Dermal translucency, Arterial rupture OMIM:619115
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Anencephaly, Spina bifida, Hypoplastic left heart ORPHA:2476
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic... OMIM:601346
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Partial anomalous pulmonary venous return, Wolff-Parkinson-White syndrome, ... OMIM:619343
Congenital Toxoplasmosis
Cardiomegaly, Jaundice, Hepatomegaly ORPHA:858
Lymphatic Malformation 6
Facial edema, Intestinal lymphangiectasia, Polyhydramnios, Webbed neck, Chylothorax, Genital edem... OMIM:616843
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Polyhydramnios ORPHA:466926
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Contractural Arachnodactyly, Congenital
Knee flexion contracture, Aortic root aneurysm, Elbow flexion contracture, Wrist flexion contract... OMIM:121050
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Atrioventricular canal defect, Hypoplastic aortic arch, Spina bifida... ORPHA:508488
Kagami-Ogata Syndrome
Polyhydramnios, Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Flexion cont... OMIM:608149
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... ORPHA:555874
Primary Myelofibrosis
Purpura, Petechiae, Portal hypertension, Ecchymosis, Pallor ORPHA:824
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Increased nuchal translucency, Coarctation of aorta, Abnormal heart morphol... OMIM:618494
Nephronophthisis 16
Situs inversus totalis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic valve stenosis, Pa... OMIM:615382
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate... ORPHA:284169
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Aortic aneurysm, Patent foramen ovale, Distal amyotrophy, Persistent left superior vena cava, Abn... ORPHA:477817
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr... OMIM:270100
20P12.3 Microdeletion Syndrome
Atrial septal defect, Wolff-Parkinson-White syndrome ORPHA:261295
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatitis, Pancreatic calcification OMIM:167800
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor ORPHA:75564
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:276621
Temple-Baraitser Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:611816
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale, Generalized amyotrophy, Pelvic girdle muscle weakness, Myopathy, Shoulder g... OMIM:615156
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Tyshchenko Syndrome
Pulmonic stenosis, Polyhydramnios, Atrial septal defect, Ventricular septal defect OMIM:615102
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Umbilical hernia, Patent ductus arteriosus, Bicuspid aortic valve, Atrial s... ORPHA:329224
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath... OMIM:212140
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Transketolase Deficiency
Patent foramen ovale, Abnormal coronary artery course, Abnormal heart morphology, Patent ductus a... ORPHA:488618
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale, Oligohydramnios OMIM:616854
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Neonatal de... OMIM:619167
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Limb hypertonia OMIM:301058
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal aortic morphology, Tetralogy... ORPHA:1166
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Polyhydramnios, Diastasis recti, Abnormal heart morphology, Umbilical hernia, Ven... ORPHA:254534
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Left-to-right shunt... ORPHA:363444
Retinitis Pigmentosa 51
Pallor OMIM:613464
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia, Patent ductus arteriosus OMIM:619909
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Patent foramen ovale, Restrictive cardiomyopathy, Camptodactyly, Flexion contracture, Mitral regu... ORPHA:88630
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Skeletal muscle atrophy, Knee flexion contracture, Atrial septal defect, Ventricul... OMIM:603387
Meckel Syndrome, Type 7
Situs inversus totalis, Portal hypertension, Aortic valve stenosis, Right ventricular hypertrophy... OMIM:267010
17Q12 Microduplication Syndrome
Atrial septal defect, Polyhydramnios ORPHA:261272
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Camptodactyly, Atrial septal defect, Ventricular septal defect, Mitral regu... OMIM:301039
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Umbilical hernia, Abnormal heart morphology, Patent ductus arteriosus, Bicu... ORPHA:500159
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the... OMIM:265380
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Dry skin, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614576
Trisomy X
Atrial septal defect, Ventricular septal defect ORPHA:3375
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Webbed neck, Predominantly lower limb lymphedema, Chylothorax, Lymphede... OMIM:153400
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Atrial septal defect, Coarctation of aorta, Patent ductus arteri... OMIM:614857
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Atrial septal defect, Truncus arteriosus ORPHA:2538
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Webbed neck OMIM:616559
Hereditary Spherocytosis
Pallor, Restrictive cardiomyopathy, Skin ulcer ORPHA:822
Megalencephaly
Atrial septal defect ORPHA:2477
Tatton-Brown-Rahman Syndrome
Supraventricular tachycardia with an accessory connection mediated pathway, Aortic root aneurysm,... ORPHA:404443
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Thanatophoric Dysplasia Type 1
Polyhydramnios, Excessive wrinkled skin, Redundant skin, Increased nuchal translucency, Patent du... ORPHA:1860
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Peripheral pulmonary ... OMIM:610205
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Dry skin, Left-to-right shunt, Cerebral edema, Left ventricular hypertrophy, Atrial septal defect... OMIM:620510
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema, Cerebral edema ORPHA:439218
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... ORPHA:103918
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Neonatal death OMIM:613730
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... OMIM:618280
Noonan Syndrome 2
Abnormal coronary artery origin, Redundant neck skin, Cardiomyopathy, Pulmonic stenosis, Nonimmun... OMIM:605275
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Webbed neck, Spina bifida ORPHA:2345
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Pericardial effusion, Ventricu... ORPHA:26793
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, At... OMIM:600987
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Webbed neck OMIM:618950
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Umbilical hernia, Atrial septal defect, Ventricular septal defect, Mitra... OMIM:615879
Tetrasomy 15Q26
Atrial septal defect, Camptodactyly, Hypoplastic aortic arch, Patent ductus arteriosus OMIM:614846
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ... ORPHA:2470
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo... OMIM:615009
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Paternal Uniparental Disomy Of Chromosome 5
Polyhydramnios, Secundum atrial septal defect ORPHA:96190
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Polyhydramnios, Facial hypotonia OMIM:611087
King-Denborough Syndrome
Webbed neck, Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Muscle fiber ... OMIM:619542
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Dominant Beta-Thalassemia
Skin ulcer, Hypoplasia of the musculature, Pallor, Arrhythmia, Dilated cardiomyopathy, High-outpu... ORPHA:231226
Von Hippel-Lindau Disease
Myocarditis, Distal lower limb muscle weakness, Stroke, Hypertension, Cardiomyopathy, Upper limb ... ORPHA:892
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Limb hypertonia, Aortic aneurysm, Multiple muscular ventricular septal defects, P... OMIM:620070
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Snijders Blok-Campeau Syndrome
Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect, Umbilical hernia OMIM:618205
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Chromosome 6Pter-P24 Deletion Syndrome
Patent foramen ovale, Umbilical hernia, Tetralogy of Fallot, Patent ductus arteriosus, Atrial sep... OMIM:612582
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect ORPHA:93946
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri... ORPHA:91387
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb hypertonia, Patent foramen ovale, Limb joint contracture, Patent ductus arteriosus, Atrial s... OMIM:620327
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Aortic regurgitation, Aortic root aneurysm, Abnormal heart valve morphol... ORPHA:230851
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Dravet Syndrome
Pallor ORPHA:33069
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy OMIM:614261
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Patent foramen ovale, Epistaxis, Patent ductus arteriosus, U... ORPHA:293939
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Spina bifida, Pulmonic stenosis, Camptodactyly of finger, Coar... OMIM:134780
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Right aortic arch, Ventricular septal defect, Pulmonar... ORPHA:95430
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Dehydration, Arthrogryposis multiplex congenita, Right ventricular hypertro... OMIM:208085
Methimazole Embryofetopathy
Polyhydramnios, Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology ORPHA:1923
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Oligohydramnios, Congenital diaphragmatic hernia ORPHA:139466
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Hypotension, Dehydration, Edema, Pallor, Dilated cardiomyopathy ORPHA:20
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:29072
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Hypoplastic aortic arch, Webbed neck, Aortic root aneurysm, Patent foramen ovale,... OMIM:617506
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Pulmonic stenosis, Atrial septal defect, Dry skin OMIM:618282
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale ORPHA:89844
Noonan Syndrome 3
Tricuspid valve prolapse, Polyhydramnios, Webbed neck, Patent foramen ovale, Hypertrophic cardiom... OMIM:609942
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Abnormal heart morphology, Umbilical hern... OMIM:175700
Diamond-Blackfan Anemia 7
Polyhydramnios, Secundum atrial septal defect, Tetralogy of Fallot, Patent ductus arteriosus, Sma... OMIM:612562
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Al-Raqad Syndrome
Atrial septal defect OMIM:616459
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Melena ORPHA:98870
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Persistent fetal circulation, Dysplastic pulmonary valve, Dysplastic tricus... OMIM:612863
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
3P25.3 Microdeletion Syndrome
Knee flexion contracture, Coronary artery atherosclerosis, Pulmonic stenosis, Skeletal muscle atr... ORPHA:435638
Neuraminidase Deficiency
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor OMIM:617675
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta ORPHA:2475
Trisomy 13
Hydrops fetalis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:3378
Burn-Mckeown Syndrome
Hypomimic face, Atrial septal defect, Ventricular septal defect OMIM:608572
Fumarase Deficiency
Pallor, Polyhydramnios, Perimembranous ventricular septal defect, Ascites OMIM:606812
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Congenital diaphragmatic hernia, Transposition of the great arteri... ORPHA:2255
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Beta-Thalassemia Major
Skin ulcer, Hypoplasia of the musculature, Pallor, Arrhythmia, Dilated cardiomyopathy, High-outpu... ORPHA:231214
Cat Eye Syndrome
Tricuspid atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, Umbilical hernia, ... OMIM:115470
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Coarctation of aorta, Atrioventricular block, Mitral valve prolapse, Bicuspid aorti... ORPHA:371428
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi... OMIM:616028
Irida Syndrome
Pallor ORPHA:209981
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Atrial septal defect, Ventricular septal defect OMIM:611134
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydrops fetalis, Polyhydramnios, Webbed neck, Pleural effusion, Ascites, Hypertrophic cardiomyopa... OMIM:616897
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatocellular necrosis, Cardiome... OMIM:201475
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Patent foramen ovale, Camptodactyly, Mitral valve prolapse, Mitral regurgitation OMIM:615539
Idiopathic Hypereosinophilic Syndrome
Congestive heart failure, Myocardial eosinophilic infiltration, Supraventricular arrhythmia, Tran... ORPHA:3260
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Potocki-Lupski Syndrome
Atrial septal defect, Patent foramen ovale OMIM:610883
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Umbilical hernia, Ventricular septal defect, Patent ductus arteriosus OMIM:617751
Noonan Syndrome 13
Webbed neck, Lymphedema, Dry skin, Mitral valve prolapse, Atrial septal defect, Mitral regurgitation OMIM:619087
Beta-Ketothiolase Deficiency
Hypertension, Dehydration, Hypotension, Edema, Pallor ORPHA:134
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Diamond-Blackfan Anemia 1
Congestive heart failure, Webbed neck, Spina bifida occulta, Tricuspid stenosis, Pallor, Coarctat... OMIM:105650
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:75389
Ritscher-Schinzel Syndrome 2
Camptodactyly, Pulmonary artery hypoplasia, Camptodactyly of finger, Patent ductus arteriosus, At... OMIM:300963
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect, Umbilical hernia OMIM:618354
Noonan Syndrome 4
Polyhydramnios, Webbed neck, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect... OMIM:610733
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Webbed neck, Joint contracture of the 5th finger, Patent foramen ovale, Joint contracture of the ... OMIM:618914
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Ventricular septal defect OMIM:620210
Mosaic Trisomy 9
Hydrops fetalis, Polyhydramnios, Dextrocardia, Webbed neck, Abnormal heart valve morphology, Spin... ORPHA:99776
Beta-Thalassemia Intermedia
Pallor, Skin ulcer, Pulmonary arterial hypertension, High-output congestive heart failure ORPHA:231222
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Pulmonic stenosis, Abnormal m... ORPHA:7
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Facial hypotonia, Abnormal cardiac ven... ORPHA:261311
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:1338
Recombinant 8 Syndrome
Redundant skin, Pulmonary artery stenosis, Camptodactyly of finger, Tetralogy of Fallot, Patent d... ORPHA:96167
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Coffin-Siris Syndrome 6
Atrial septal defect, Diaphragmatic eventration OMIM:617808
Sifrim-Hitz-Weiss Syndrome
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventri... OMIM:617159
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiomyopathy, Dehydration, Cardiac conduction abnormality, Arrhythmia, Pallor... ORPHA:2131
Costello Syndrome
Polyhydramnios, Redundant skin, Hypertrophic cardiomyopathy, Thickened Achilles tendon, Pulmonic ... ORPHA:3071
Carpenter Syndrome 1
Transposition of the great arteries, Spina bifida occulta, Camptodactyly, Pulmonic stenosis, Umbi... OMIM:201000
Hereditary Folate Malabsorption
Pallor, Skeletal muscle atrophy ORPHA:90045
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Patent ductus arteriosus OMIM:218350
Coffin-Siris Syndrome 7
Polyhydramnios, Patent foramen ovale, Bicuspid aortic valve, Ventricular septal defect, Oligohydr... OMIM:618027
Sepsis In Premature Infants
Purpura, Bradycardia, Petechiae, Hypotension, Tachycardia, Pallor, Edema ORPHA:90051
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Ventricular septal defect ORPHA:2256
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:220500
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Seckel Syndrome 9
Congenital diaphragmatic hernia, Polyhydramnios, Pulmonary artery hypoplasia, Atrial septal defec... OMIM:616777
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Portal hypertension, Splenomeg... ORPHA:465508
Refractory Anemia With Excess Blasts
Palpitations, Anemic pallor, Retinal hemorrhage ORPHA:86839
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Webbed neck, Coarctation of aorta, Pallor, Abnormal heart mor... ORPHA:124
Noonan Syndrome 7
Pulmonic stenosis, Webbed neck, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:613706
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus OMIM:614886
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... ORPHA:369929
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Atrial septal defect, Hydrops fetalis, Ascites OMIM:608776
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi... OMIM:615710
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Aplasia/Hyp... ORPHA:1926
Digeorge Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Truncus arteriosus, Umbil... OMIM:188400
Zechi-Ceide Syndrome
Atrial septal defect, Abnormal heart morphology ORPHA:217017
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:260370
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele, Atrial septal defect ORPHA:521308
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Ventricular septal defect ORPHA:261190
16P12.1P12.3 Triplication Syndrome
Tachycardia, Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morphology ORPHA:485405
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Spina bifida occulta, Pleural lymphang... OMIM:235510
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Flexion contracture of toe, Joint contracture of the 5th finger, Elbow flex... OMIM:602782
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Chromosome 9P Deletion Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Heart murmur, Atrial septal d... OMIM:158170
Desbuquois Syndrome
Camptodactyly of finger, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:1425
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Camptodactyly OMIM:614815
Lujan-Fryns Syndrome
Camptodactyly of finger, Atrial septal defect ORPHA:776
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Pulmonary arterial hypertension ORPHA:85202
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:457193
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Ventricular septal defect, Scapular winging, Patent ductus arteriosus OMIM:617061
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Arthrogryposis-like hand anomaly, Camptodactyly, Abnormal heart morphology,... ORPHA:369891
Chromosome 18Q Deletion Syndrome
Congestive heart failure, Dysplastic pulmonary valve, Ascending tubular aorta aneurysm, Absence o... OMIM:601808
Kapur-Toriello Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defec... OMIM:244300
Down Syndrome
Redundant neck skin, Atrioventricular canal defect, Partial anomalous pulmonary venous return, Pa... OMIM:190685
Ogden Syndrome
Torticollis, Cutis laxa, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia, Ventricular se... ORPHA:276432
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Patent ductus arteriosus ORPHA:452
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:612938
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Cone-Rod Dystrophy 8
Pallor, Retinal arteriolar constriction OMIM:605549
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Ventricular se... ORPHA:1727
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly, Hepatic steatosis ORPHA:42
Woods Syndrome
Ventricular septal defect OMIM:615236
Cold Agglutinin Disease
Pallor ORPHA:56425
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Encephalocele ORPHA:398156
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Mitral stenosis, Spinal dysraphism, Atrial septal defect, Hypoplastic left... OMIM:617660
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale OMIM:618821
Stevenson-Carey Syndrome
Left superior vena cava draining to coronary sinus, Atrial septal defect, Camptodactyly, Joint co... OMIM:611961
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Per... OMIM:618775
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Pseudo-Torch Syndrome 1
Petechiae, Umbilical hernia, Patent foramen ovale, Patent ductus arteriosus OMIM:251290
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Descending ao... OMIM:610168
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Arthrogryposis multiplex congenita, Arrhythmia, Atrial septal defect, Ventr... ORPHA:254346
Filippi Syndrome
Ventricular septal defect OMIM:272440
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Increased nuchal translucency OMIM:617635
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia OMIM:617450
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart OMIM:619721
Myelofibrosis
Purpura, Pallor OMIM:254450
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Patent ductus arteriosus OMIM:613680
Cirrhotic Cardiomyopathy
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Right atrial enlargement, Left ventri... ORPHA:57777
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Redundant neck skin, Pulmonary artery atresia, Ventricular septal defect, Supravalvar pulmonary s... OMIM:618164
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenomegaly, Cardiomegaly OMIM:603903
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Webbed neck OMIM:270450
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Polyhydramnios, Patent ductus arteriosus ORPHA:1790
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Polyhydramnios, Spina bifida occulta, Camptodactyly, Atrial septal defect, V... OMIM:617360
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect, Flexion contracture OMIM:617452
Trisomy 1Q
Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios, Increased nuchal translucency, ... ORPHA:261344
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries, Macroglossia OMIM:616789
Combined Oxidative Phosphorylation Deficiency 9
Patent foramen ovale, Hypertrophic cardiomyopathy OMIM:614582
Retinitis Pigmentosa 75
Pallor OMIM:617023
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Transposition of the great arteries, Encephalocele, Calf muscle hypertrophy, ... OMIM:253800
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atrial septal defect ORPHA:896
Shashi-Pena Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Limb hypertonia, Patent ductus arteriosus OMIM:617190
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Congenital finger flexion contractures, Achilles... ORPHA:363528
Phace Association
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... OMIM:606519
Senior-Loken Syndrome 8
Pallor, Vascular dilatation OMIM:616307
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Abnormal pericardium morphology, Tet... ORPHA:1335
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Umbilical hernia ORPHA:2143
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Aortic root aneurysm, Camptodactyly, Thin skin, Coarctation of a... OMIM:617602
Kapur-Toriello Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2328
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Vascular dilatation, Stroke, Dry skin, Arterial stenosis, Patent ductus arteriosus, Abnormal cere... ORPHA:2637
Spondylo-Ocular Syndrome
Ventricular septal defect, Webbed neck, Facial hypotonia ORPHA:85194
Intellectual Developmental Disorder, Autosomal Recessive 65
Contracture of the proximal interphalangeal joint of the 4th finger, Atrial septal defect, Secund... OMIM:618109
Esophageal Atresia
Polyhydramnios, Coarctation of aorta, Tetralogy of Fallot, Pallor, Ventricular septal defect ORPHA:1199
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Polyhydramnios, Joint contracture, Patent ductus arteriosus OMIM:618005
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis OMIM:615503
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... ORPHA:456312
X-Linked Intellectual Disability, Nascimento Type
Abnormal vena cava morphology, Patent foramen ovale, Dry skin, Pulmonary arterial hypertension, O... ORPHA:163956
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Imerslund-Gräsbeck Syndrome
Tachycardia, Pallor ORPHA:35858
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
17Q23.1Q23.2 Microdeletion Syndrome
Congenital contracture, Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arte... ORPHA:261279
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Palpebral edema, Camptodactyly, Patent ductus arteriosus, Atrial septal defect, Macroglossia ORPHA:397709
Pyruvate Kinase Deficiency Of Red Cells
Pallor, Nonimmune hydrops fetalis OMIM:266200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Polyhydramnios, Pulmonary artery atresia, Arthrogryposis multiplex congenita... OMIM:301056
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Weakness of facial musculature, Bradycardia, Facial diplegia, ... ORPHA:70
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect OMIM:616651
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect OMIM:611926
De Barsy Syndrome
Excessive wrinkled skin, Hypoplastic aortic arch, Prominent veins on trunk, Ventricular septal de... ORPHA:2962
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Patent ductus arteriosus OMIM:602482
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Cardiac arrest OMIM:246450
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Pallor, Hypotension, Tachycardia ORPHA:98849
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect, Limb joint contracture ORPHA:505237
Joubert Syndrome 3
Atrial septal defect OMIM:608629
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent foramen ovale, Pulmonary artery atresia, Patent ductus arteriosus, Ventricular septal defe... OMIM:620113
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Pulmonary artery atresia, Tetral... ORPHA:1908
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Facial hypotonia OMIM:614526
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
Char Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:46627
Koolen-De Vries Syndrome
Aortic root aneurysm, Dry skin, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valv... OMIM:610443
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Patent foramen ovale OMIM:620075
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Myelomeningocele, Camptodactyly of finger, Coa... ORPHA:2876
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Torticollis, Increased variability in muscle fiber diameter, Cardiomegaly, Overr... OMIM:617022
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Neonatal death, Patent ductus arteriosus, Atrial septal defect, Ventricu... OMIM:620024
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Cutis Laxa, Autosomal Dominant 1
Congestive heart failure, Aortic regurgitation, Redundant skin, Cutis laxa, Mitral regurgitation,... OMIM:123700
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Ventricular septal defect OMIM:601357
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Patent foramen ovale, Contracture of the proximal interphalangea... ORPHA:457279
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia, Pallor OMIM:277400
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormal pituitary gland morphology, Nodu... ORPHA:64744
Sheehan Syndrome
Orthostatic hypotension, Bradycardia, Dry skin, Palpitations, Pallor ORPHA:91355
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ... ORPHA:449432
Tarp Syndrome
Neonatal death, Tetralogy of Fallot, Atrial septal defect, Oligohydramnios, Subdural hemorrhage OMIM:311900
Degcags Syndrome
Atrial septal defect, Polyhydramnios, Tachycardia, Dysplastic pulmonary valve, Patent foramen ova... OMIM:619488
Distal Triplication 15Q
Hypoplastic aortic arch, Camptodactyly, Abnormal heart morphology, Flexion contracture, Patent du... ORPHA:314588
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot ORPHA:3306
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Webbed neck, Pulmonic stenos... OMIM:618223
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Hepatosplenomegaly, Left ventricular hypertrophy, Card... ORPHA:79330
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Agnathia-Otocephaly Complex
Situs inversus totalis, Polyhydramnios, Secundum atrial septal defect OMIM:202650
Brachydactyly, Type B1
Ventricular septal defect, Camptodactyly, Joint contracture of the hand OMIM:113000
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Coarctation of aorta, Secundum atrial septal defect, Skeletal muscle atrophy OMIM:614300
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Pituitary Apoplexy
Pallor, Hypertension, Hypotension ORPHA:95613
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Edema, Anemic pallor, Hematochezia ORPHA:329971
Syndromic Diarrhea
Aortic regurgitation, Dry skin, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus art... ORPHA:84064
Mosaic Trisomy 16
Atrial septal defect, Large placenta, Coarctation of aorta, Abnormal heart morphology, Patent duc... ORPHA:1708
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect, Umbilical he... ORPHA:1488
Mckusick-Kaufman Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, H... ORPHA:2473
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Ogden Syndrome
Left atrial enlargement, Redundant neck skin, Redundant skin, Premature ventricular contraction, ... OMIM:300855
Pelger-Huet Anomaly
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness, Umbilical hernia OMIM:169400
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Alagille Syndrome
Spina bifida occulta, Hypertension, Telangiectasia of the skin, Atrial septal defect, Ventricular... ORPHA:52
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Atrial septal defect, Flexion contracture, Hypertrophic cardiomyopathy OMIM:619383
Aase-Smith Syndrome I
Ventricular septal defect, Flexion contracture OMIM:147800
Galloway-Mowat Syndrome 7
Edema, Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Pleural empyema, Hypertensive crisis, Generalized edema, Edema, Pallor ORPHA:544482
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:614961
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Pulmonary arterial hypertension, Aortic valve stenosis, Pul... OMIM:615067
Gm1 Gangliosidosis
Congestive heart failure, Hydrops fetalis, Aplasia/Hypoplasia of the abdominal wall musculature, ... ORPHA:354
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:145420
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Scapular winging, Webbed neck, Patent ductus arteriosus OMIM:609625
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Flexion contracture, Patent ductus arterio... OMIM:617303
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Redundant neck skin, Polyhydramnios, Pancreatic lymphangiectasis, Lymphedema, Ascites, Pulmonary ... OMIM:235255
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Encephalocele, Coarctation of aorta, Atrial septal defect, Ventr... OMIM:264480
19Q13.11 Microdeletion Syndrome
Thin skin, Ventricular septal defect, Dry skin ORPHA:217346
Alazami Syndrome
Atrial septal defect ORPHA:319671
Monosomy 18Q
Congestive heart failure, Pulmonary valve defects, Aortic aneurysm, Dysplastic pulmonary valve, A... ORPHA:1600
7Q31 Microdeletion Syndrome
Patent ductus arteriosus after birth at term, Atrial septal defect, Skeletal muscle atrophy, Tort... ORPHA:251061
Lethal Kniest-Like Dysplasia
Edema, Atrial septal defect, Polyhydramnios ORPHA:2347
Diaphragmatic Hernia 4, With Cardiovascular Defects
Polyhydramnios, Webbed neck, Aortic root aneurysm, Aortopulmonary window, Aplasia of the left hem... OMIM:620025
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Hepatic steatosis OMIM:255120
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Ventricular septal defect, Vascular dilatation OMIM:219730
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonary arterial h... ORPHA:505248
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Cardiomegaly, Webbed neck, Aortic root aneurysm, Patent foramen ... OMIM:245600
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Heart murmur ORPHA:2728
Fg Syndrome Type 1
Facial wrinkling, Pulmonary arterial hypertension, Coarctation of aorta, Mitral valve prolapse, U... ORPHA:93932
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Patent ductu... OMIM:117550
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Cardiofaciocutaneous Syndrome
Excessive wrinkled skin, Webbed neck, Abnormal heart valve morphology, Redundant skin, Lymphedema... ORPHA:1340
Elliptocytosis 1
Pallor OMIM:611804
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Hepatoblastoma, Pancreatic hyperplasia, Cardiomega... OMIM:130650
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Increased nuchal translucency OMIM:620183
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:52055
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect, Dehydration, Ascites ORPHA:1667
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Patent ductus arteriosus after premature birth, Ventricular sep... OMIM:620454
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Polyhydramnios, Dilation of Virchow-Robin spaces, Pulmonary artery stenosis, Atrial septal defect... OMIM:300998
Fucosidosis
Cardiomegaly, Abnormality of the gallbladder, Hepatomegaly ORPHA:349
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart m... ORPHA:261197
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Heart And Brain Malformation Syndrome
Polyhydramnios, Limb hypertonia, Interrupted aortic arch, Camptodactyly of finger, Ventricular se... OMIM:616920
Braddock-Carey Syndrome 1
Ventricular septal defect, Aortic valve prolapse, Camptodactyly OMIM:619980
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Dilation of Virchow-Robin spaces, Flexion contracture OMIM:619720
Bohring-Opitz Syndrome
Polyhydramnios, Camptodactyly, Cutis laxa, Flexion contracture, Atrial septal defect, Ventricular... OMIM:605039
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect, Camptodactyly ORPHA:459061
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Melena, Abnormal heart morphology, Hematochezia, Intestinal bleeding... ORPHA:79076
Brain-Lung-Thyroid Syndrome
Webbed neck, Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Ventric... ORPHA:209905
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary arterial hypertension OMIM:616449
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Pericardial eff... ORPHA:91347
Oculoectodermal Syndrome
Lymphedema, Transient ischemic attack, Hypertrophic cardiomyopathy, Coarctation of aorta, Patent ... OMIM:600268
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen content, Hepatitis, Chronic he... OMIM:614921
Al Kaissi Syndrome
Atrial septal defect, Torticollis OMIM:617694
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Subv... OMIM:614114
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Ascending tubular aorta aneurysm, Pleural effus... ORPHA:453499
Immunodeficiency 110 With Lymphoproliferation
Patent foramen ovale, Secundum atrial septal defect OMIM:614868
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect ORPHA:79113
Zaki Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Patent ductus arteriosus OMIM:619648
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Aortic root aneurysm, Ventricular hypertrophy, Dry skin, Increased nuchal translucency, Pulmonic ... OMIM:620654
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Congenital Disorder Of Glycosylation, Type Ig
Edema, Patent foramen ovale, Polyhydramnios, Patent ductus arteriosus OMIM:607143
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Atrial septal defect, Perime... OMIM:620662
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Aortic root aneurysm, Patent foramen ovale, Scapular winging, Congeni... OMIM:615582
Weill-Marchesani Syndrome 2
Congestive heart failure, Flexion contracture of toe, Elbow flexion contracture, Pulmonic stenosi... OMIM:608328
Childhood Absence Epilepsy
Pallor ORPHA:64280
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Patent foramen ovale, Arrhythmia OMIM:619184
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect, Flexion contra... OMIM:309520
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Abnormal pulmonary artery morphology, Secundum atrial septal d... ORPHA:2257
Meckel Syndrome
Situs inversus totalis, Accessory spleen, Asplenia, Cryptorchidism, Male pseudohermaphroditism, T... ORPHA:564
Buratti-Harel Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619314
Adams-Oliver Syndrome 1
Encephalocele, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Pulmonary artery... OMIM:100300
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Mitral valve prolapse OMIM:300986
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:77298
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hypoplastic aortic arch, Meningocele OMIM:620511
Loeys-Dietz Syndrome 3
Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic tortuosity, Pulm... OMIM:613795
19P13.3 Microduplication Syndrome
Ventricular septal defect, Pulmonary arterial hypertension ORPHA:447980
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Transposition of the great arteries, Webbed neck, Tetralogy of F... ORPHA:1780
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Prolactinoma
Pallor, Hypotension ORPHA:2965
Fanconi Anemia, Complementation Group C
Anemic pallor, Ventricular septal defect, Flexion contracture OMIM:227645
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Umbilical hernia ORPHA:1292
Mgat2-Cdg
Hydrops fetalis, Patent ductus arteriosus, Reflex asystolic syncope, Abnormal heart morphology, A... ORPHA:79329
Fanconi Anemia, Complementation Group F
Atrial septal defect, Polyhydramnios, Patent ductus arteriosus OMIM:603467
Bdv Syndrome
Atrial septal defect OMIM:619326
Wiedemann-Steiner Syndrome
Contracture of the distal interphalangeal joint of the fingers, Atrial septal defect, Patent duct... OMIM:605130
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Ventric... OMIM:610759
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Dextrocardia, Patent ductus arteriosus OMIM:277380
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Redundant skin, Ascending tubular aorta aneurysm, Right bundle branch b... OMIM:617403
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Secundum atrial septal defect, Hypertrophic cardiomyopathy OMIM:619121
Robinow Syndrome, Autosomal Dominant 3
Webbed neck, Patent foramen ovale, Pulmonary artery atresia, Tricuspid regurgitation, Camptodacty... OMIM:616894
Letterer-Siwe Disease
Pallor OMIM:246400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Mitral atresia, Pulmonic stenosis, Patent ductus arteriosus, Atrial sep... OMIM:614609
Fanconi Anemia, Complementation Group E
Anemic pallor, Abnormal heart morphology OMIM:600901
Mucolipidosis Type Ii
Pulmonary insufficiency, Abnormal aortic valve morphology, Aortic regurgitation, Knee flexion con... ORPHA:576
Warsaw Breakage Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:613398
Joubert Syndrome 14
Encephalocele, Meningocele, Hypertension, Intracranial hemorrhage, Ventricular septal defect OMIM:614424
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Atrial septal defect ORPHA:1915
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Heart murmur, Intracranial hemorrhage, Patent ductus arteriosus, Atrial ... ORPHA:163979
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Jacobsen Syndrome
Annular pancreas, Hypospadias, Labial hypoplasia, Cryptorchidism, Clitoral hypoplasia, Atrial sep... OMIM:147791
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Hypertension, Umbilical hernia OMIM:619758
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia OMIM:200995
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm, Double outlet right ventr... OMIM:616652
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Retinal hemorrhage, Flexion contracture, Tachycardia, Ventricular sept... OMIM:614653
Cardioacrofacial Dysplasia 2
Common atrium, Left superior vena cava draining to coronary sinus, Atrioventricular canal defect OMIM:619143
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Diastasis recti, Spina bifida, Umbilical hernia, Thin skin, Camp... ORPHA:2092
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, A... OMIM:600460
Brachytelephalangic Chondrodysplasia Punctata
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:79345
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Aceruloplasminemia
Elevated hepatic iron concentration, Abnormal pancreas morphology ORPHA:48818
Multiple Endocrine Neoplasia Type 2
Hypertension associated with pheochromocytoma, Hypertensive crisis, Proximal amyotrophy, Palpitat... ORPHA:653
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia o... ORPHA:93111
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Aortic root aneurysm, Patent foramen ovale, Umbilical hernia, Co... ORPHA:2745
White-Sutton Syndrome
Congenital diaphragmatic hernia, Facial hypotonia, Patent foramen ovale, Patent ductus arteriosus... OMIM:616364
Incontinentia Pigmenti
Retinal hemorrhage, Pallor, Erythema OMIM:308300
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Anencephaly, Patent foramen ovale, Ascites, Neonatal death, Patent ductus arterio... OMIM:269860
Restrictive Dermopathy
Scaling skin, Short umbilical cord, Large placenta, Transposition of the great arteries, Polyhydr... ORPHA:1662
Autosomal Recessive Malignant Osteopetrosis
Pulmonary artery stenosis, Pallor, Pulmonary arterial hypertension, Abnormal pulmonary valve morp... ORPHA:667
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Right ventricular hypertrophy, Arthrogryposis multiplex congenita OMIM:613404
Fanconi Anemia, Complementation Group A
Anemic pallor, Abnormal heart morphology OMIM:227650
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur ORPHA:166035
Noonan Syndrome
Webbed neck, Aplasia/Hypoplasia of the abdominal wall musculature, Lymphedema, Hypertrophic cardi... ORPHA:648
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Renal Cysts And Diabetes Syndrome
Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Biliary tract abnormality, Atretic vas def... OMIM:137920
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Splenomegaly, Pancreatic f... OMIM:232220
Cutis Laxa, Autosomal Recessive, Type Ic
Vascular dilatation, Morgagni diaphragmatic hernia, Redundant skin, Patent foramen ovale, Ascites... OMIM:613177
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Elbow contracture, Knee flexion contracture, Patent ductus arteriosus OMIM:618162
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Arrhythmia, Overriding aorta, Atria... OMIM:309801
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus OMIM:300514
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Flexion contracture of toe, Webbed neck, Spina bifida occulta, Facial palsy, Camp... OMIM:300373
Oligomeganephronia
Congenital diaphragmatic hernia, Hypertension, Dehydration, Pulmonary venous occlusion, Secundum ... ORPHA:2260
C Syndrome
Cutis laxa, Ventricular septal defect, Patent ductus arteriosus OMIM:211750
Distal Deletion 10Q
Spina bifida occulta, Facial diplegia, Scapular winging, Patent ductus arteriosus, Atrial septal ... ORPHA:96148
Paternal Uniparental Disomy Of Chromosome 6
Dehydration, Umbilical hernia, Patent ductus arteriosus, Cardiomegaly, Ventricular septal defect,... ORPHA:96191
Lateral Meningocele Syndrome
Patent ductus arteriosus, Aortic aneurysm, Meningocele, Decreased muscle mass, Umbilical hernia, ... OMIM:130720
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Epistaxis, Hematochezia ORPHA:96168
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Polyhydramnios, Pulmonary artery ... ORPHA:141127
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Atrial septal defect, Ventricular septal defect, Pulmonary arterial hype... OMIM:620663
Aica-Ribosiduria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Pancreatic steatosis, Cryptorchidism OMIM:617052
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Exocrine pancreatic insufficiency, Shawl scrotum, Hepatic fibrosis, Pancreatic fibr... OMIM:616263
Frank-Ter Haar Syndrome
Redundant neck skin, Patent foramen ovale, Camptodactyly, Secundum atrial septal defect, Mitral v... OMIM:249420
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Pallor OMIM:301310
3Mc Syndrome 1
Spina bifida occulta, Diastasis recti, Conjunctival telangiectasia, Patent ductus arteriosus, Atr... OMIM:257920
Fanconi Anemia, Complementation Group D2
Anemic pallor, Abnormal heart morphology, Patent ductus arteriosus OMIM:227646
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly, Dilated cardiomyop... OMIM:608836
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1770
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Ventricular septal defect ORPHA:3078
Cardiofacioneurodevelopmental Syndrome
Pulmonic stenosis, Atrioventricular canal defect, Ventricular septal defect, Camptodactyly OMIM:619123
Restrictive Dermopathy 1
Scaling skin, Stillbirth, Short umbilical cord, Polyhydramnios, Thin skin, Hydropic placenta, Neo... OMIM:275210
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Visceromegaly, Hypertrophic cardiomy... ORPHA:116
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Holt-Oram Syndrome
Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Small thenar eminence, P... OMIM:142900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Polyhydramnios, Psoriasiform dermatitis, Ventricular septal defect, Hematochezia OMIM:243150
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho... OMIM:609192
Chops Syndrome
Patent foramen ovale, Ventricular septal defect, Anomalous pulmonary venous return, Patent ductus... OMIM:616368
Neuroblastoma
Anemic pallor, Hypertension ORPHA:635
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Patent ductus arteriosus OMIM:300472
Trisomy 8P
Annular pancreas, Abnormal left ventricle morphology, Dysplastic aortic valve, Tetralogy of Fallo... ORPHA:264450
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Webbed neck, Elbow flexion contracture, Camptodactyly, Arthrogryposis multiplex congenita, Hip co... OMIM:178110
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hepatic fibrosis, Ambiguous genitalia, Atrial septal defect, Ventricular sep... OMIM:263520
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Polyhydramnios, Aortic regurgitation, Webbed neck, Hypertrophic cardiomyopathy, Pulmonic stenosis... OMIM:607721
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Dry skin, Persistent left superior vena cava, A... OMIM:619268
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Atrial septal defect, Polyhydramnios, Patent ductus arteriosus OMIM:614080
Alg12-Cdg
Muscular ventricular septal defect, Polyhydramnios, Redundant skin, Patent foramen ovale, Camptod... ORPHA:79324
Craniofacioskeletal Syndrome
Interrupted aortic arch, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:300712
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma, Polyhydramnios, Aortic regurgitation, Abnormal aortic morph... ORPHA:1052
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Peripheral pulmonary artery stenosis, Wrist flexion contracture ORPHA:436003
Codas Syndrome
Ventricular septal defect ORPHA:1458
Maternal Phenylketonuria
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventric... ORPHA:2209
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect OMIM:620194
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Kabuki Syndrome 2
Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect, Coarctation of aorta OMIM:300867
Congenital Disorder Of Glycosylation, Type Iie
Congestive heart failure, Perimembranous ventricular septal defect, Excessive wrinkled skin, Secu... OMIM:608779
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Dextrocardia, Webbed neck, Coronary artery fistula, Ventricular ... OMIM:614294
8P11.2 Deletion Syndrome
Atrial septal defect, Mitral valve prolapse, Patent ductus arteriosus ORPHA:251066
Specc1L-Related Hypertelorism Syndrome
Patent ductus arteriosus, Umbilical hernia, Tetralogy of Fallot, Arrhythmia, Atrial septal defect... ORPHA:1519
Shwachman-Diamond Syndrome 2
Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Hepatomegaly OMIM:617941
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Ventricular septal defect, Patent... OMIM:613309
ERI1-related disease
Tricuspid regurgitation, Abnormal heart morphology, Ventricular septal defect, Pulmonary arterial... OMIM:608739
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia ORPHA:93947
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Fontaine Progeroid Syndrome
Premature skin wrinkling, Aortic aneurysm, Hypoplasia of the abdominal wall musculature, Redundan... OMIM:612289
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Atrioventricular canal defect, Hypertension, Pleural effusion, Ascites, Pul... OMIM:619573
Noonan Syndrome 1
Webbed neck, Chylothorax, Lymphedema, Dry skin, Hypertrophic cardiomyopathy, Pulmonic stenosis, C... OMIM:163950
Feingold Syndrome
Annular pancreas, Abnormality of the spleen ORPHA:1305
Weill-Marchesani Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect, Mi... OMIM:277600
Alg9-Cdg
Atrial septal defect, Hydrops fetalis, Torticollis, Abnormal left ventricular outflow tract morph... ORPHA:79328
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy... OMIM:263200
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:261236
Ramos-Arroyo Syndrome
Atrial septal defect, Xerostomia, Patent ductus arteriosus ORPHA:1051
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Patent foramen ovale, Right bundle branch block, Tricuspid regurgitation, C... OMIM:617402
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Polyhydramnios, Pancreatic lymphangiectasis, Ascites, Pulmonary lymphangiect... ORPHA:1655
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Secundum atrial septal defect OMIM:620242
Pearson Marrow-Pancreas Syndrome
Pallor, Hydrops fetalis, Dehydration, Erythema OMIM:557000
Aregenerative Anemia
Pallor ORPHA:101096
Nephronophthisis 13
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts OMIM:614377
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Flexion contracture of toe, Aortic root aneurysm, Patent foramen ovale, Pulmonary arterial hypert... ORPHA:280633
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis OMIM:614749
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Glandular hypospadias OMIM:620306
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly, Hepatic calcification... ORPHA:228308
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Ventricular septal defect, Oligohydramnios, Congenital diaphragmatic h... OMIM:611812
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Vascular dilatation, Spina bifida occulta, Facial palsy, Upper limb muscle... OMIM:607323
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly, Cryptorchidism OMIM:618143
Trisomy 18
Congenital diaphragmatic hernia, Anencephaly, Webbed neck, Spina bifida, Camptodactyly of finger,... ORPHA:3380
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Contracture of the proximal interphalangea... ORPHA:464738
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:620558
Peroxisome Biogenesis Disorder 5A (Zellweger)
Palpebral edema, Aortic regurgitation, Tricuspid regurgitation, Camptodactyly, Heart murmur, Atri... OMIM:614866
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Atrial septal defect, Right atrial enlargement OMIM:615219
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Renal Agenesis
Oligohydramnios, Ventricular septal defect, Hypertension ORPHA:411709
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:308552
Neurocardiofaciodigital Syndrome
Atrial septal defect, Tetralogy of Fallot, Double inlet left ventricle, Patent ductus arteriosus OMIM:619869
Rabson-Mendenhall Syndrome
Cardiomyopathy, Dry skin, Atrial septal defect, Ventricular septal defect, Macroglossia ORPHA:769
Fibrochondrogenesis 1
Stillbirth, Hydrops fetalis, Patent foramen ovale, Camptodactyly, Joint contracture of the hand OMIM:228520
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Polyhydramnios, Hydrops fetalis, Anencephaly, Occipital meningoc... OMIM:616546
Kaufman Oculocerebrofacial Syndrome
Thin skin, Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Patent foramen ovale, Pulmonary arterial hypertension, Umbilical... OMIM:618454
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Dry skin, Camptodactyly ORPHA:261323
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Myhre Syndrome
Skeletal muscle hypertrophy, Hypertension, Camptodactyly, Aortic valve stenosis, Pericardial effu... OMIM:139210
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebral arteries... OMIM:619472
X Small Rings
Aortic root aneurysm, Mitral stenosis, Bicuspid aortic valve, Ventricular septal defect, Oligohyd... ORPHA:96201
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonic stenosis, Secundum atrial septal defect, Mitral regurgi... OMIM:612541
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Skeletal muscle atrophy OMIM:615802
Cranioectodermal Dysplasia 2
Hydrops fetalis, Polyhydramnios, Patent foramen ovale, Hypertension, Cutis laxa, Left ventricular... OMIM:613610
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Scaling skin, Skin ulcer, Chylothorax, Lymphedema, Pleural effusion, Dry skin, Edema, Atrial sept... ORPHA:2526
Fanconi Anemia, Complementation Group N
Atrial septal defect, Ventricular septal defect OMIM:610832
Phelan-Mcdermid Syndrome
Palpebral edema, Ventricular septal defect, Lymphedema, Patent ductus arteriosus OMIM:606232
Sweeney-Cox Syndrome
Patent foramen ovale, Polyhydramnios, Patent ductus arteriosus OMIM:617746
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Spondyloocular Syndrome
Webbed neck, Lymphedema, Dysplastic aortic valve, Mitral valve prolapse, Atrial septal defect OMIM:605822
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Cardiomy... ORPHA:699
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Bile duct proliferation, Polycystic liver disease, Hepatic fibrosis, Pancreatic fibrosi... OMIM:208500
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Polyhydramnios, Atrioventricular canal defect, Camptodactyly of finger, Patent ductus arteriosus,... ORPHA:3047
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Ascending tubular aorta aneurysm, Lymphedema, Elbow flexion cont... ORPHA:536471
Kleefstra Syndrome
Pulmonary artery stenosis, Coarctation of aorta, Tetralogy of Fallot, Arrhythmia, Bicuspid aortic... ORPHA:261494
Holoprosencephaly 13, X-Linked
Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal... OMIM:301043
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Edema of the dorsum of hands, Shoulder muscle hypoplasia, Spina bi... OMIM:274000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Ragged-red muscle fibers, Patent foramen ovale, Hypertrophic cardiomyopa... ORPHA:17
Codas Syndrome
Polyhydramnios, Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect OMIM:600373
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Polyhydramnios, Elbow flexion contracture, Pulmonary artery atre... ORPHA:1692
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Ventricular septal ... OMIM:614947
Intellectual Developmental Disorder, X-Linked 112
Hypospadias, Abnormal heart morphology, Bicuspid aortic valve, Ambiguous genitalia, Cryptorchidis... OMIM:301111
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Patent ductus arteriosus OMIM:300968
Combined Oxidative Phosphorylation Deficiency 3
Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Rhabdomyolysis, Patent ductus arter... OMIM:610505
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:608013
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Hypop... OMIM:618748
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect, Umbilical hernia ORPHA:96129
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ventricular septal defect OMIM:618021
Bohring-Opitz Syndrome
Cardiomegaly, Annular pancreas, Cholelithiasis, Abnormal cardiac septum morphology ORPHA:97297
Neu-Laxova Syndrome 1
Stillbirth, Short umbilical cord, Transposition of the great arteries, Polyhydramnios, Small plac... OMIM:256520
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Webbed neck, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect OMIM:115150
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Flexion contracture, Camptodactyly OMIM:207410
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Palpebral edema, Webbed neck, Tricuspid regurgitation, Camptodactyly of... ORPHA:261337
Neurodevelopmental Disorder With Spasticity And Poor Growth
Patent ductus arteriosus, Limb hypertonia, Patent foramen ovale, Achilles tendon contracture, Kne... OMIM:618076
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Ascites, Left-to-right shunt, Edema, Aortic regurgitation, Paten... OMIM:619534
Mosaic Variegated Aneuploidy Syndrome 1
Pulmonic stenosis, Atrial septal defect, Oligohydramnios, Embryonal rhabdomyosarcoma OMIM:257300
Fryns Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Cryptorchidism, Ectopic pancreatic tissue, Shawl s... OMIM:229850
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Valvular pulmonary stenosis, Spina bifida occulta, Patent foramen ovale, Bicuspid aortic valve, A... OMIM:300707
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal left ventricle morphology, Abnormal cardiac ventricular function, Patent foramen ovale, ... ORPHA:466791
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Secundum atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619951
Hardikar Syndrome
Hematemesis, Partial anomalous pulmonary venous return, Patent foramen ovale, Hypertension, Porta... OMIM:301068
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Diaphragmatic eventration, Umbilical ... OMIM:222448
Ring Chromosome 12 Syndrome
Secundum atrial septal defect, Webbed neck ORPHA:1439
Genitopatellar Syndrome
Atrial septal defect, Arthrogryposis multiplex congenita, Hip contracture, Knee flexion contracture ORPHA:85201
Costello Syndrome
Redundant neck skin, Lymphangiectasis, Polyhydramnios, Rhabdomyosarcoma, Webbed neck, Hypertrophi... OMIM:218040
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Limb hypertonia ORPHA:457351
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... ORPHA:1677
Hamamy Syndrome
Atrial septal defect, Mitral regurgitation, Complete atrioventricular canal defect, Prolonged QRS... OMIM:611174
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Congenital hydrocele, Parotitis, Cholestasis, Hepatosplenomegaly, Splenom... OMIM:620376
Cerebrocostomandibular Syndrome
Polyhydramnios, Webbed neck, Elbow flexion contracture, Patent ductus arteriosus, Atrial septal d... OMIM:117650
Chromosome 14Q11-Q22 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect, Macroglossia, Patent ductus arteriosus OMIM:613457
Ellis Van Creveld Syndrome
Situs inversus totalis, Atrioventricular canal defect, Dextrocardia, Abnormal heart valve morphol... ORPHA:289
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Papillary cystadenoma of the epid... OMIM:193300
Feingold Syndrome 1
Annular pancreas, Tricuspid atresia, Accessory spleen, Tricuspid stenosis, Asplenia, Ventricular ... OMIM:164280
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Aortic aneurysm, Aortic valve stenosis, Patent ductus arteriosus... ORPHA:96121
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Abnormal heart morphology, Restrictive cardiomyopathy, Patent ductus arteri... ORPHA:369837
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Vitreous hemorrhage, Hydrops fetalis, Retinal arterial tortuosity, Limb hypertonia, Hydranencepha... OMIM:620371
Carpenter Syndrome 2
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Webbed neck, Knee flex... OMIM:614976
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Transposition of the great a... OMIM:280000
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect, Dry skin OMIM:619306
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Distal Deletion 12Q
Annular pancreas, Biliary atresia, Patent foramen ovale, Unilateral cryptorchidism, Pituitary ade... ORPHA:96149
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Coffin-Siris Syndrome
Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, V... ORPHA:1465
Marshall-Smith Syndrome
Hypertension, Pulmonary arterial hypertension, Dysplastic aortic valve, Premature ventricular con... OMIM:602535
Frontometaphyseal Dysplasia 2
Webbed neck, Patent foramen ovale, Camptodactyly, Pulmonic stenosis, Hip contracture, Decreased m... OMIM:617137
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Polyhydramnios, Aortic regurgitation, Aortic valve stenosis, Flexion c... ORPHA:464311
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Ventricular septal defect OMIM:619103
Microphthalmia, Syndromic 2
Dextrocardia, Hypoplastic aortic arch, Contracture of the proximal interphalangeal joint of the 2... OMIM:300166
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Atrial septal defect OMIM:614207
Hypothyroidism, Congenital, Nongoitrous, 5
Patent foramen ovale, Mitral regurgitation OMIM:225250
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Patent foramen ovale, Pulmonary arterial hypertension, Portal hypertension, Patent ductus arterio... OMIM:620005
Liver Disease, Severe Congenital
Left atrial enlargement, Biliary hyperplasia, Splenomegaly, Cardiomegaly, Hepatic steatosis, Jaun... OMIM:619991
Ellis-Van Creveld Syndrome
Common atrium, Atrial septal defect OMIM:225500
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pituitary growth hormone cell adenoma, Polycystic liver disease, Mitral valve pr... ORPHA:730
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal left ventricular function, Abnormal tendon morphology, Angina pect... ORPHA:391665
1P36 Deletion Syndrome
Annular pancreas, Abnormal female external genitalia morphology, Hypospadias, Hypoplasia of penis... ORPHA:1606
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Fanconi Anemia
Abnormal carotid artery morphology, Abnormal aortic valve morphology, Arteriovenous malformation,... ORPHA:84
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale OMIM:619179
17Q12 Microdeletion Syndrome
Shawl scrotum, Cryptorchidism, Pancreatic aplasia ORPHA:261265
Meier-Gorlin Syndrome 7
Heart block, Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal def... OMIM:617063
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Hypospadias, Patent foramen ovale, Cryptorchidism, Ventricular septal defect OMIM:616975
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Muscular ventricular septal defect, Shoulder flexion contracture, Patent foramen oval... OMIM:210710
Williams Syndrome
Abnormal carotid artery morphology, Redundant skin, Hypertension, Cerebral ischemia, Pulmonic ste... ORPHA:904
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation ORPHA:261250
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Spina bifida occulta, Pulmonary artery stenosis, Atrial septal defect, V... OMIM:301030
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Prolonged QT interval, Webbed neck, Aplasia/Hypo... ORPHA:373
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Ventricular septal defect ORPHA:1393
Limb Body Wall Complex
Congenital diaphragmatic hernia, Ectopia cordis, Short umbilical cord, Anencephaly, Encephalocele... ORPHA:2369
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Hydrops fetalis, Knee flexion contracture, Elbow flexion contracture, Hip contrac... OMIM:300868
Vici Syndrome
Congestive heart failure, Cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Dil... OMIM:242840
Lateral Meningocele Syndrome
Meningocele, Ventricular septal defect, Umbilical hernia ORPHA:2789
Autosomal Recessive Robinow Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Camptodactyly of finger, Tetralo... ORPHA:1507
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:251014
Khan-Khan-Katsanis Syndrome
Patent foramen ovale, Bilateral superior vena cava with no bridging vein, Tricuspid regurgitation... OMIM:618460
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Aortic aneurysm, Branchial anomaly, Type 1 muscle fiber atrophy, Increased nuchal translucency, A... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Aortic aneurysm, Branchial anomaly, Type 1 muscle fiber atrophy, Increased nuchal translucency, A... ORPHA:352665
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Hydrops fetalis, Coarctation of aorta, Ventricular septal defect ORPHA:268249
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Aortic valve stenosis, Ventricular septal defect, Hypoplastic l... ORPHA:2308
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Arthrogryposis multiplex congenita, Webbed neck OMIM:620076
Yunis-Varon Syndrome
Redundant neck skin, Hydrops fetalis, Polyhydramnios, Hypertension, Cardiomyopathy, Renal artery ... ORPHA:3472
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, Polyhydramnios, Aortic regurgitation, Torticollis, Facial hypotonia, Mi... OMIM:618371
Arboleda-Tham Syndrome
Webbed neck, Lower limb amyotrophy, Pulmonic stenosis, Lower limb hypertonia, Secundum atrial sep... OMIM:616268
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Aortic regurgitation, Diastasis recti, Tricuspid regurgitation, Ecchymo... OMIM:601776
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Atrial septal defect, Generalized limb muscle atrophy, Flexion contracture OMIM:618891
Chime Syndrome
Pulmonary valve atresia, Transposition of the great arteries, Skin ulcer, Tetralogy of Fallot, Ve... ORPHA:3474
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Robinow Syndrome
Pulmonary valve atresia, Tricuspid atresia, Pulmonic stenosis, Coarctation of aorta, Abnormal hea... ORPHA:97360
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Atrial septal defect, Polyhydramnios, Patent ductus arteriosus OMIM:213980
Rubinstein-Taybi Syndrome 1
Perimembranous ventricular septal defect, Polyhydramnios, Spina bifida occulta, Patent foramen ov... OMIM:180849
Cerebellar-Facial-Dental Syndrome
Limb hypertonia, Foot joint contracture, Ascending tubular aorta aneurysm, Mitral valve prolapse,... ORPHA:444072
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy, Hepatocellular necrosis,... OMIM:618278
Trichohepatoenteric Syndrome 1
Large placenta, Polyhydramnios, Aortic regurgitation, Pulmonic stenosis, Tetralogy of Fallot, Ven... OMIM:222470
Chromosome 16P13.3 Duplication Syndrome
Webbed neck, Facial hypotonia, Camptodactyly, Tetralogy of Fallot, Atrial septal defect, Ventricu... OMIM:613458
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Muscular ventricular septal defect, Hypoplastic aortic arch, Pat... OMIM:157800
Down Syndrome
Atrioventricular canal defect, Secundum atrial septal defect, Tetralogy of Fallot, Umbilical hern... ORPHA:870
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, Splenomegaly, A... ORPHA:581
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Flexion contracture, Xerostomia ORPHA:398069
Tbck-Related Intellectual Disability Syndrome
Diastasis recti, Pulmonic stenosis, Skeletal muscle atrophy, Ventricular septal defect, Oligohydr... ORPHA:488632
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Patent foramen ovale, Oligohydramnios, Heart murmur OMIM:618653
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Hajdu-Cheney Syndrome
Skin ulcer, Dry skin, Aortic valve stenosis, Umbilical hernia, Mitral stenosis, Patent ductus art... ORPHA:955
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Aortic valve stenosis, Patent ductus arteriosu... ORPHA:464306
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent foramen ovale, Mitral regurgitation, Patent ductus arteriosus ORPHA:457395
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Aortic regurgitation OMIM:620072
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pulmonic stenosis, Aortic valve stenosis, Coarctation of aorta, Abnormal heart morphology, Vascul... ORPHA:353281
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Polyhydramnios, Large placenta, Abnormal aortic arch morphology, Diastasis r... ORPHA:96334
Larsen Syndrome
Atrial septal defect, Ventricular septal defect, Spina bifida occulta, Aortic aneurysm OMIM:150250
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Patent ductus arteriosus OMIM:106260
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Polyhydramnios, Umbilical hernia, Ventricular septal defect, Int... OMIM:618846
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Ulnar-Mammary Syndrome
Camptodactyly of finger, Aplasia of the pectoralis major muscle, Ventricular septal defect, Arrhy... ORPHA:3138
Distal Deletion 6P
Atrial septal defect ORPHA:96125
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Polyhydramnios, Increased nuchal ... ORPHA:818
Okamoto Syndrome
Redundant neck skin, Abnormal left ventricle morphology, Webbed neck, Primum atrial septal defect... ORPHA:2729
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Cryptorchidism, Hypogonadism OMIM:268400
Mayer-Rokitansky-Küster-Hauser Syndrome
Pulmonic stenosis, Atrial septal defect ORPHA:3109
Zttk Syndrome
Aortic regurgitation, Flexion contracture, Patent ductus arteriosus, Atrial septal defect, Ventri... OMIM:617140
Koolen-De Vries Syndrome Due To A Point Mutation
Aortic aneurysm, Cardiomyopathy, Spina bifida, Pulmonic stenosis, Abnormal heart morphology, Hand... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Aortic aneurysm, Cardiomyopathy, Spina bifida, Pulmonic stenosis, Abnormal heart morphology, Hand... ORPHA:363958
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Polyhydramnios, Patent foramen ovale, Facial palsy, Pulmonary arterial hypertension, Right ventri... OMIM:620186
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Thin skin, Abnormal heart morphology, Mitral valve prolapse, Heart murmur, Atrial s... OMIM:615873
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:252500
Charge Syndrome
Polyhydramnios, Patent ductus arteriosus, Webbed neck, Right aortic arch, Pulmonary artery atresi... OMIM:214800
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Cardiomegaly, Hepatic fibrosis, Hepatic steatosis ORPHA:14
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Scaling skin, Cutis laxa, Oligohydramnios, Transposition of the great arteries, Muscular ventricu... OMIM:619503
Ctcf-Related Neurodevelopmental Disorder
Joint contracture of the 5th finger, Pulmonary arterial hypertension, Coarctation of aorta, Paten... ORPHA:363611
Orofaciodigital Syndrome V
Ventricular septal defect, Tetralogy of Fallot OMIM:174300
Tarp Syndrome
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot ORPHA:2886
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Aortic regurgitation, Limb hypertonia OMIM:609460
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Aortic root aneurysm, Patent foramen ovale, Pulmonary arterial hyperten... ORPHA:444077
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Congestive heart failure, Patent foramen ovale, Renal artery stenosis, Pulmonary arterial hyperte... ORPHA:391487
Oculodentodigital Dysplasia
Joint contracture of the 5th finger, Atrial septal defect, Arrhythmia OMIM:164200
Gabriele-De Vries Syndrome
Patent foramen ovale, Distal arthrogryposis, Aortopulmonary collateral arteries, Facial hypotonia OMIM:617557
Alagille Syndrome 1
Stroke, Renal artery stenosis, Coarctation of aorta, Tetralogy of Fallot, Atrial septal defect, V... OMIM:118450
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent foramen ovale, Polyhydramnios, Patent ductus arteriosus OMIM:300990
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Pallor OMIM:253280
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrial septal defect, Redundant skin, Arrhythmia OMIM:250220
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Ventricular septal defect, Neonatal death, Patent ductus arte... OMIM:146510
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal subclavian artery morphology, Polyhydramnios, Patent foramen ovale, Pulmonic stenosis, A... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal subclavian artery morphology, Polyhydramnios, Patent foramen ovale, Pulmonic stenosis, A... ORPHA:353277
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Secundum atrial septal defect, Pulmonary arterial hypertension, Patent duc... OMIM:613355
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Thauvin-Robinet-Faivre Syndrome
Mitral valve prolapse, Varicose veins, Ventricular septal defect, Pedal edema, Macroglossia OMIM:617107
Omodysplasia 1
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Umbilical hernia OMIM:258315
Opitz Gbbb Syndrome
Ventricular septal defect, Umbilical hernia OMIM:300000
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Polyhydramnios, Lower-limb joint contracture, Pulmonary artery stenosis, Dilatation of the ventri... ORPHA:459070
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Flexion contracture, Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Mitr... OMIM:271640
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Peripheral pulmonary artery stenosis, Hematochezia OMIM:619575
Marden-Walker Syndrome
Situs inversus totalis, Abnormal anatomic location of the heart, Muscular dystrophy, Dextrocardia... ORPHA:2461
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Camptodactyly OMIM:272950
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent foramen ovale, Anomalous origin of left subclavian artery, Pulmonic stenosis, Abnormal hea... ORPHA:438213
Schinzel-Giedion Syndrome
Annular pancreas, Hypospadias, Abnormal heart morphology, Hepatoblastoma, Streak ovary, Micropenis ORPHA:798
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Progressive flexion contractures ORPHA:522077
Bardet-Biedl Syndrome 20
Atrial septal defect OMIM:619471
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Transposition of the great arteries, Polyhydramnios, Facial hypo... OMIM:312870
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Secundum atrial septal defect, Webbed neck OMIM:601321
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scaling skin, Corneal neovascularization, Hydromyelia, Hypertension, Dry skin, Perianal erythema,... OMIM:308205
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Portal hypertension, Bi... ORPHA:731
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, ... ORPHA:363700
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
Prolonged QT interval, Webbed neck, Hypertension, Lymphedema, Aortic arch aneurysm, Arterial diss... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Webbed neck, Hypertension, Lymphedema, Aortic arch aneurysm, Arterial diss... ORPHA:99228
Monosomy X
Prolonged QT interval, Webbed neck, Hypertension, Lymphedema, Aortic arch aneurysm, Arterial diss... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Webbed neck, Hypertension, Lymphedema, Aortic arch aneurysm, Arterial diss... ORPHA:881
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus OMIM:616682
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Camptodactyly, Contracture of the proximal interphalangeal joint... OMIM:301044
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Aortic root aneurysm, Noncompaction cardiomyopathy, Patent foramen ovale, E... OMIM:607872
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Renpenning Syndrome 1
Situs inversus totalis, Camptodactyly, Tetralogy of Fallot, Atrial septal defect, Ventricular sep... OMIM:309500
Vater/Vacterl Association
Occipital encephalocele, Transposition of the great arteries, Patent urachus, Spina bifida, Tetra... OMIM:192350
Smith-Lemli-Opitz Syndrome
Hypertension, Hypertrophic cardiomyopathy, Ventricular fibrillation, Coarctation of aorta, Patent... OMIM:270400
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Retinal arteriolar tortuosity, Stroke, Hypertension, Renal ... OMIM:194050
Combined Immunodeficiency-Enteropathy Spectrum
Polyhydramnios, Psoriasiform dermatitis, Ventricular septal defect ORPHA:436252
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid stenosis, Pulmonary arterial hypertensio... OMIM:143095
Microphthalmia, Syndromic 3
Ventricular septal defect, Patent ductus arteriosus OMIM:206900
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:365
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Prolonged neonatal jaundice, Hepatosplenomegaly, Cardiomegaly, Micro... ORPHA:51
Mowat-Wilson Syndrome
Pulmonic stenosis, Pulmonary artery stenosis, Generalized muscle hypertrophy, Abnormal heart morp... OMIM:235730
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615948
Hajdu-Cheney Syndrome
Umbilical hernia, Ventricular septal defect, Patent ductus arteriosus OMIM:102500
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Catel-Manzke Syndrome
Dextrocardia, Camptodactyly, Coarctation of aorta, Umbilical hernia, Overriding aorta, Ventricula... OMIM:616145
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Abnormal heart valve morphology, Atrial septal defect, Abnormal ... ORPHA:280
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Hypertension, Oligohydramnios OMIM:300896
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Ventricular septal defect, Tetralogy of Fallot, Patent ductus ar... OMIM:154400
Holoprosencephaly 14
Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia OMIM:619895
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Spina bifida occulta, Abnormal right ventricle morphology, Camptodactyly, Mitral valve prolapse, ... ORPHA:500095
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Atrial septal defect, Total anomalous pulmonary venous return, Knee flexion contracture OMIM:609945
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect, Umbilical hernia OMIM:613884
Penile Agenesis
Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:49
Mosaic Trisomy 20
Abnormal mitral valve morphology, Ventricular septal defect, Dysplastic tricuspid valve ORPHA:1724
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Flexion contracture OMIM:609069
Neurooculorenal Syndrome
Patent foramen ovale, Tetralogy of Fallot with pulmonary stenosis, Dextrocardia, Mitral valve pro... OMIM:620305
Mandibuloacral Dysplasia Progeroid Syndrome
Patent foramen ovale, Tricuspid regurgitation, Mitral valve calcification, Flexion contracture, L... OMIM:619127
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Dextrocardia, Spina bifi... ORPHA:2911
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Patent ductus arteriosus, Spina bifida occulta, Tetralogy of Fal... OMIM:135900
Chilton-Okur-Chung Neurodevelopmental Syndrome
Polyhydramnios, Limb hypertonia, Patent foramen ovale, Aplasia of the right hemidiaphragm, Epista... OMIM:619841
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Epididymitis, Splenomegaly, Cardiomegaly OMIM:256040
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Oligohydramnios, Ventricular septal hypertrophy, Ventricular septal defect OMIM:608670
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Webbed neck, Patent ductus arteriosus ORPHA:434179
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Anomal... OMIM:616462
Peters-Plus Syndrome
Polyhydramnios, Webbed neck, Diastasis recti, Pulmonic stenosis, Umbilical hernia, Patent ductus ... OMIM:261540
Cornelia De Lange Syndrome 6
Ventricular septal defect, Atrioventricular canal defect, Pulmonary artery atresia OMIM:620568
Hydrolethalus Syndrome 1
Stillbirth, Polyhydramnios, Anencephaly, Agenesis of the diaphragm, Ventricular septal defect, Co... OMIM:236680
Keutel Syndrome
Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Ventricular septal defect, Peripher... OMIM:245150
Tetrasomy 9P
Dextrocardia, Juxtaductal coarctation of the aorta, Myositis, Patent foramen ovale, Pulmonary art... ORPHA:3310
Roberts-Sc Phocomelia Syndrome
Stillbirth, Ankle flexion contracture, Polyhydramnios, Knee flexion contracture, Elbow flexion co... OMIM:268300
Pallister-Hall Syndrome
Atrioventricular canal defect, Umbilical hernia, Coarctation of aorta, Distal arthrogryposis, Pat... ORPHA:672
Schinzel-Giedion Midface Retraction Syndrome
Atrial septal defect, Macroglossia OMIM:269150
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ischemic stroke, Transient ischemic attack, Abnormal heart morphology, Patent ductus arteriosus a... ORPHA:500150
Floating-Harbor Syndrome
Mesocardia, Coarctation of aorta, Umbilical hernia, Persistent left superior vena cava, Atrial se... OMIM:136140
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Atrial septal defect, Ventricular septal defect, Webbed neck OMIM:194190
Sotos Syndrome
Ankle flexion contracture, Aortic aneurysm, Bilateral camptodactyly, Umbilical hernia, Hip contra... ORPHA:821
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Johanson-Blizzard Syndrome
Situs inversus totalis, Atrial septal defect, Vascular dilatation, Ascites, Portal hypertension, ... OMIM:243800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:619522
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Stillbirth, Polyhydramnios, Webbed neck, Camptodactyly of 2nd-5t... OMIM:601803
Genitopatellar Syndrome
Polyhydramnios, Hip contracture, Knee flexion contracture, Atrial septal defect, Ventricular sept... OMIM:606170
Floating-Harbor Syndrome
Mesocardia, Coarctation of aorta, Tetralogy of Fallot, Persistent left superior vena cava, Atrial... ORPHA:2044
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Pancreatic calcification, Cardiomegaly, Hepatic ca... ORPHA:51608
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Ventricular septal defect, Increased nucha... ORPHA:199
Diphallia
Atrial septal defect, Abnormal heart morphology ORPHA:227
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:147920
Townes-Brocks Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Abnormal pulmonary valve mor... ORPHA:857
Faciocardiomelic Syndrome
Common atrium OMIM:612731
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus ORPHA:480880
Otopalatodigital Syndrome, Type Ii
Stillbirth, Spina bifida, Dilatation of the sinus of Valsalva, Umbilical hernia, Atrial septal de... OMIM:304120
Proboscis Lateralis
Ventricular septal defect, Patent ductus arteriosus ORPHA:141099
Townes-Brocks Syndrome 1
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Umbilical hernia OMIM:107480
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Yunis-Varon Syndrome
Redundant neck skin, Hydrops fetalis, Polyhydramnios, Patent foramen ovale, Cardiomyopathy, Pulmo... OMIM:216340
Ulnar-Mammary Syndrome
Ventricular septal defect, Elbow flexion contracture, Arrhythmia OMIM:181450
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Subarterial ventricular septal defect, Dry skin, Secundum atrial septal defect, Vascular tortuosi... ORPHA:99646
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250
Craniofacial Microsomia 1
Occipital encephalocele, Branchial anomaly, Right aortic arch, Coarctation of aorta, Tetralogy of... OMIM:164210

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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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