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Genes Phenotypes Help, News, Blog

Gene: Arid1a MGI:1935147

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
AT-rich interaction domain 1A
Synonyms:
BAF250a,  1110030E03Rik,  Smarcf1,  Osa1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Arid1a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Arid1a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Coffin-Siris Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... ORPHA:1465
Coffin-Siris Syndrome 2
Macroglossia, Intrauterine growth retardation, Abnormal heart morphology OMIM:614607

The table below shows human diseases predicted to be associated to Arid1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Congenital Heart Block
First degree atrioventricular block, Atrioventricular block, Hydrops fetalis, Vaginal birth after... ORPHA:60041
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Intraut... OMIM:616276
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Abnormal heart morphology, Abnormal placenta mor... ORPHA:439167
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Pyknoachondrogenesis
Stillbirth OMIM:265880
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... OMIM:614702
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardi... OMIM:618815
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Congestive heart failure, Bradycardia, Left ventricular hypertrophy, Int... OMIM:619048
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Bradycardia, Neonatal death, Weakness of facial m... OMIM:620265
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Idiopathic Congenital Hypothyroidism
Macroglossia, Umbilical hernia, Facial edema, Bradycardia ORPHA:95717
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... ORPHA:2414
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Anhydramnios OMIM:613885
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... OMIM:239850
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho... ORPHA:254534
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Intrauterine growth retardation, Decreased level of coenzyme Q10 in... OMIM:614654
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Decreased fetal movement, Bradycardia ORPHA:2898
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... OMIM:618775
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Prena... ORPHA:45453
Aminoacylase 1 Deficiency
Breech presentation, Bradycardia OMIM:609924
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P... ORPHA:26793
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural effusion, Bra... ORPHA:330001
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Intrauterine growth retardation, Severe intrauterine growth retardation, Small placenta ORPHA:73272
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Small placenta, Oligohydramnios ORPHA:397590
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Atrioventricula... OMIM:212138
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Tricuspid regurgitation, Decreased fetal movement, Polyhydramn... OMIM:620351
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary... ORPHA:555874
Familial Thyroid Dyshormonogenesis
Macroglossia, Umbilical hernia, Facial edema, Bradycardia ORPHA:95716
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura... OMIM:617397
Congenital Disorder Of Glycosylation, Type Il
Decreased fetal movement, Edema, Pericardial effusion, Abnormal cardiac septum morphology, Ascites OMIM:608776
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... ORPHA:292
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... OMIM:609286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Infant Acute Respiratory Distress Syndrome
Tachycardia, Premature birth, Cardiac arrest, Bradycardia, Hypotension, Pulmonary edema ORPHA:70587
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Umbilical hernia, Bradycardia ORPHA:226313
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia ORPHA:228346
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal left ventricu... ORPHA:2041
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Spinal Muscular Atrophy, Type I
Decreased fetal movement, Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy... OMIM:253300
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence, Breech presentation, Arthrogr... OMIM:615731
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Decreased fetal movement, Premature birth, Elbow contract... OMIM:208150
Eng-Strom Syndrome
Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect, C... ORPHA:1937
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Decreased fetal movement, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular sep... OMIM:620070
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Neu-Laxova Syndrome 1
Decreased fetal movement, Ventricular septal defect, Spina bifida, Polyhydramnios, Fetal akinesia... OMIM:256520
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... OMIM:617912
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis, Hyp... OMIM:615779
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Small thenar eminence, Camptodact... OMIM:211960
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Romano-Ward Syndrome
Sudden cardiac death, Abnormality of prenatal development or birth, Sinus bradycardia, Syncope, T... ORPHA:101016
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... OMIM:235510
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Cardiac-Urogenital Syndrome
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Acitretin/Etretinate Embryopathy
Premature birth, Conotruncal defect, Third degree atrioventricular block, Bradycardia, Atrioventr... ORPHA:40366
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Necrotizing Enterocolitis
Shock, Premature birth, Edema, Abnormal heart morphology, Bradycardia, Hypotension, Ascites ORPHA:391673
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect, Pedal edema, Sinus bradycardia OMIM:126320
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A... ORPHA:860
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Small vessel... ORPHA:36412
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Glutamine Deficiency, Congenital
Neonatal death, Flexion contracture, Bradycardia, Camptodactyly OMIM:610015
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Bradycardia, Atrioventricular block OMIM:614407
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Edema, Pericardial effusion, Hypertension, Lower limb hyperton... OMIM:619487
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Decreased fetal movement, Multiple joint contractures, Quadriceps muscle... ORPHA:70
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe... ORPHA:199241
Restrictive Dermopathy
Decreased fetal movement, Multiple joint contractures, Premature birth, Dextrocardia, Camptodacty... ORPHA:1662
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Bradycardia, Limb hypertonia OMIM:614498
Intellectual Developmental Disorder, Autosomal Recessive 73
Decreased fetal movement, Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventricular noncompac... OMIM:619167
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Breech presentation, Flexion contracture, Retinal hemorrh... OMIM:614653
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Pa... ORPHA:1120
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Hematochezia, Coloboma, Anasarca, Pleural effusion, Ascites OMIM:618183
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema ORPHA:79126
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Raynaud phenomenon, Pericardial effusion, Pleural effusion, Ascites ORPHA:93552
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Umbilical hernia, Bradycardia, Edema ORPHA:90673
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Hydrocephalus, Camptodactyly, Arthrogryposis multiplex congenita, Pl... OMIM:617822
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Mosaic Trisomy 16
Ventricular septal defect, Premature birth, Large placenta, Patent ductus arteriosus, Abnormal he... ORPHA:1708
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Coloboma, Single umbilic... OMIM:220210
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Polyhydramnios, Large placenta, Flexion contracture, Macroglossia, Camptodactyly... ORPHA:254528
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Mitral regurgitation ORPHA:83473
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect OMIM:601355
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Gaucher Disease Type 1
Pericardial effusion, Abnormal myocardium morphology, Pedal edema, Pulmonary arterial hypertensio... ORPHA:77259
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... ORPHA:49827
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Colob... OMIM:618652
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contracture, Cardio... OMIM:212065
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Pericardial effusio... ORPHA:99827
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... OMIM:613870
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy OMIM:619272
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... OMIM:613327
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Grange Syndrome
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Large placenta, Abnormalities of... OMIM:222470
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage, Co... OMIM:614424
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma, Ventricular septal defect, Holoprosencephaly, Anterior encephalocele OMIM:601357
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Poems Syndrome
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites ORPHA:2905
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Bradycardia, Congenital foot contractures, Limb hypertonia ORPHA:565624
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... OMIM:615355
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus... OMIM:601927
Alg9-Cdg
Thickened nuchal skin fold, Decreased fetal movement, Torticollis, Tricuspid regurgitation, Ventr... ORPHA:79328
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida ORPHA:2345
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Umbilical hernia, Hypertrophi... OMIM:612938
Q Fever
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Vasculitis, End... ORPHA:781
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrhage, Pleural effusion ORPHA:464329
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis OMIM:618624
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Umbilical hernia, Facial edema, Bradycardia ORPHA:90674
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Coloboma, Single umbi... ORPHA:329224
Lujo Hemorrhagic Fever
Shock, Facial edema, Myocarditis, Periorbital edema, Subconjunctival hemorrhage, Bradycardia, Hyp... ORPHA:319213
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
D-Glyceric Aciduria
Patent ductus arteriosus, Bradycardia OMIM:220120
Humero-Radial Synostosis
Meningocele, Iris coloboma, Chorioretinal coloboma ORPHA:3265
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Cardiomegaly, Third he... ORPHA:1329
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Decreased fetal movement, Ventricular septal defect, Edema, Polyhydramni... OMIM:607598
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Iris coloboma, Congenital diaphragmatic hernia ORPHA:2143
Aicardi-Goutieres Syndrome 7
Edema, Hematemesis, Pericardial effusion, Vasculitis, Oligohydramnios, Hematochezia, Hypertension... OMIM:615846
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Abnormal myoca... ORPHA:77261
Triploidy
Polyhydramnios, Hydrocephalus, Meningocele, Macroglossia, Abnormal cardiac septum morphology, Hol... ORPHA:3376
Sepsis In Premature Infants
Tachycardia, Premature birth, Edema, Bradycardia, Hypotension, Caesarian section ORPHA:90051
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Schisis Association
Encephalocele, Premature birth, Congenital diaphragmatic hernia, Spina bifida, Anencephaly ORPHA:63862
Hypotonia, Infantile, With Psychomotor Retardation
Decreased fetal movement, Myopathy, Ventricular septal defect, Increased variability in muscle fi... OMIM:616816
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Umbilical hernia, Ech... OMIM:617751
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, U... OMIM:615879
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Umbilical hernia, Mitral valve prolapse ORPHA:536532
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Coloboma, Congenital contrac... ORPHA:97297
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Coloboma, Intrauterine growth retardation, Truncus art... OMIM:615583
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:500159
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Rhabdomyolysis, Low-to-normal bl... ORPHA:358
Aymé-Gripp Syndrome
Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Hydrocephalus, Patent ductus... ORPHA:1272
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp... OMIM:139210
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Camptodactyly, Intrauterine growth retardation OMIM:614815
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... ORPHA:284169
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Spina bifida, Raynaud phenomenon, Lymphedema, Coloboma, Arrhythmia ORPHA:2874
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Polyhydramnios ORPHA:3469
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dehydration, Hypertension, Bradycardia, Hypotens... ORPHA:94093
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic... ORPHA:2369
Diabetic Embryopathy
Ventricular septal defect, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, S... ORPHA:1926
Emanuel Syndrome
Thickened nuchal skin fold, Decreased fetal movement, Torticollis, Truncus arteriosus, Ventricula... OMIM:609029
Meckel Syndrome, Type 1
Occipital encephalocele, Camptodactyly of finger, Large placenta, Hydrocephalus, Patent ductus ar... OMIM:249000
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Atrial septa... ORPHA:97214
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Weill-Marchesani Syndrome
Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis ORPHA:3449
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Macroglossia,... OMIM:615668
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect ORPHA:398156
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
Alg3-Cdg
Macroglossia, Neural tube defect, Arthrogryposis multiplex congenita, Cardiomyopathy ORPHA:79321
Kagami-Ogata Syndrome
Large placenta, Premature birth, Diastasis recti, Polyhydramnios ORPHA:254519
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weakness OMIM:207950
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... OMIM:616897
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele, Chorioretinal coloboma ORPHA:2481
Muscle-Eye-Brain Disease
Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:619769
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Single umbilical artery, Intrauterine growth retardation, Ventricular septal defect, Hypoplastic ... ORPHA:2772
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect, Premature birth, Intrau... OMIM:616651
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Limb joint contracture, Prematur... OMIM:275210
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Telangiectasia, Atrial septal... OMIM:612582
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Hydrocephalus, Tetralogy of Fallot, ... ORPHA:7
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Thickened nuchal skin fold, Dextrocardia, Spina bifida, Myel... ORPHA:2437
Wildervanck Syndrome
Meningocele, Facial palsy ORPHA:3456
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Tyshchenko Syndrome
Ventricular septal defect, Premature birth, Polyhydramnios, Pulmonic stenosis, Atrial septal defe... OMIM:615102
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr... ORPHA:185
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Epistaxis, Edema ORPHA:167
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Macroglossia, Arthrogryposis-like hand anom... ORPHA:369891
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Umbilical hernia, Bradycardia OMIM:218700
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Sinus bradycardia, Congenital contracture, Intrauterine growth retardation, ... OMIM:618397
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Camptodac... ORPHA:99776
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:1488
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites ORPHA:538
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Scapular winging, Camptodactyly of finger, Spina bifida ORPHA:1327
Pelger-Huet Anomaly
Umbilical hernia, Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness OMIM:169400
Emanuel Syndrome
Decreased fetal movement, Multiple joint contractures, Truncus arteriosus, Ventricular septal def... ORPHA:96170
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Anomalous pulmonary venous... ORPHA:2311
King-Denborough Syndrome
Decreased fetal movement, Ventricular septal defect, Centrally nucleated skeletal muscle fibers, ... OMIM:619542
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Umbilical hernia, Facial edema, Bradycardia ORPHA:226307
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... ORPHA:3426
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Hennekam Syndrome
Camptodactyly of finger, Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax, Ascites ORPHA:2136
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis recti, Polyhydr... ORPHA:96334
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... ORPHA:980
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr... OMIM:306955
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect OMIM:612946
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po... ORPHA:51608
Adams-Oliver Syndrome 6
Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension OMIM:616589
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... ORPHA:137675
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ... OMIM:600001
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Atrial septal defec... OMIM:618142
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Anophthalmia Plus Syndrome
Iris coloboma, Spina bifida ORPHA:1104
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida ORPHA:957
Kagami-Ogata Syndrome
Ventricular septal defect, Diastasis recti, Polyhydramnios, Premature birth, Patent ductus arteri... OMIM:608149
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Joint contracture of th... OMIM:201000
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat... ORPHA:1335
Lateral Meningocele Syndrome
Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Meningoce... OMIM:130720
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect, Iris coloboma ORPHA:2789
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucen... OMIM:618870
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Dehydration, Capillary leak, Subconjunctival hemor... ORPHA:99826
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Single umbilical artery, Ventricular septal defect, Premature birth, Polyhydramnios ORPHA:2256
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Focal Dermal Hypoplasia
Telangiectasia of the skin, Ventricular septal defect, Spina bifida, Congenital diaphragmatic her... ORPHA:2092
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Intrau... OMIM:606003
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Pagod Syndrome
Encephalocele, Sudden cardiac death, Spina bifida, Situs inversus totalis, Congenital diaphragmat... ORPHA:991
Beckwith-Wiedemann Syndrome
Premature birth, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma... ORPHA:116
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... ORPHA:3405
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventricular septal defect OMIM:602501
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Mitr... OMIM:603387
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Dysplastic aortic valve, Congestive he... OMIM:601808
Congenital Rubella Syndrome
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept... ORPHA:290
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Fetal Trimethadione Syndrome
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin... ORPHA:1913
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... OMIM:264480
Phaver Syndrome
Intrauterine growth retardation, Myelomeningocele, Ventricular septal defect, Camptodactyly of fi... ORPHA:2876
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... OMIM:121050
Filippi Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:272440
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect, Semilobar holoprosencephaly OMIM:245552
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Intellectual Developmental Disorder, Autosomal Dominant 47
Single umbilical artery, Intrauterine growth retardation, Increased nuchal translucency, Ventricu... OMIM:617635
Trisomy 13
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Atrial septal defect, Intra... ORPHA:3378
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Intr... ORPHA:254346
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:1166
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology ORPHA:401935
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia... ORPHA:3380
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ... ORPHA:2255
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios ORPHA:139466
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Single umbilical artery, Patent... OMIM:618027
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intraute... ORPHA:1393
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ... OMIM:212093
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterios... OMIM:616564
Craniorachischisis
Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli... ORPHA:63260
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Prune Belly Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A... ORPHA:2970
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect... OMIM:618316
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal... ORPHA:508498
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
Alagille Syndrome
Telangiectasia of the skin, Ventricular septal defect, Hypertension, Atrial septal defect, Intrau... ORPHA:52
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Spina bifida, Hydrocephalus, Retinal coloboma, Hydranencephaly, Iris col... ORPHA:2839
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Intrauterine ... OMIM:619909
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Flexion contracture, Ventricular septal defect, Low APGAR score ORPHA:79243
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios OMIM:263630
Donnai-Barrow Syndrome
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical ... OMIM:222448
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Costello Syndrome
Thickened nuchal skin fold, Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Mac... ORPHA:3071
Fountain Syndrome
Facial edema, Spina bifida occulta, Spina bifida ORPHA:3219
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology, Chorioretinal coloboma, Intrauterine growth... ORPHA:494344
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa... OMIM:618494
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Atrial septal ... OMIM:614576
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... OMIM:608978
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect OMIM:218350
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Oligohydramnios, Dehydration, ... ORPHA:96191
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Retinal coloboma, A... OMIM:244300
Aortic Valve Disease 1
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... OMIM:109730
Trisomy 1Q
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... ORPHA:261344
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... OMIM:614921
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Patent... OMIM:605275
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Premature birth, Congestive heart failure, Pa... ORPHA:354
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... ORPHA:1425
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defect, Intrauterine grow... OMIM:617360
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Holoprosencephaly, Iris coloboma ORPHA:77298
Ogden Syndrome
Cardiogenic shock, Arrhythmia, Ventricular septal defect, Torticollis ORPHA:276432
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia, Oligohydramnios OMIM:614437
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
19P13.3 Microduplication Syndrome
Intrauterine growth retardation, Ventricular septal defect, Pulmonary arterial hypertension ORPHA:447980
Microphthalmia, Syndromic 9
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia, Patent duc... OMIM:601186
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Chorioretinal coloboma ORPHA:2031
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Polyhydramnios, Abnormal left ventricular function, Pulmonic stenosis,... OMIM:301056
Kapur-Toriello Syndrome
Ventricular septal defect, Patent ductus arteriosus, Retinal coloboma, Tetralogy of Fallot, Iris ... ORPHA:2328
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Edema, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus, Anence... OMIM:269860
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... ORPHA:99050
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... ORPHA:3427
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Ret... OMIM:616546
Chromosome 17P13.1 Deletion Syndrome
Decreased fetal movement, Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion co... OMIM:613776
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Patent ductus arteriosus, Bradycardia OMIM:617248
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Neu-Laxova Syndrome 2
Decreased fetal movement, Polyhydramnios, Spina bifida, Edema, Intrauterine growth retardation OMIM:616038
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... OMIM:309801
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia, Occipital meni... ORPHA:268810
Iniencephaly
Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Polyhydramnios, Myelomeningocele, H... ORPHA:63259
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia OMIM:617450
Noonan Syndrome 4
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... OMIM:610733
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion OMIM:181000
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia, Edema, Dehydration ORPHA:79404
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect OMIM:620210
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra... ORPHA:2162
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly OMIM:301039
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc... OMIM:617478
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra... ORPHA:435638
Amish Lethal Microcephaly
Decreased fetal movement, Spina bifida, Limb hypertonia ORPHA:99742
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect, Arthrogryposis mul... OMIM:208085
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Neonatal death, Atrial septal defe... OMIM:265380
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... ORPHA:99829
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Edema OMIM:618348
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, ... OMIM:617022
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept... ORPHA:2519
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Hypomimic face OMIM:608572
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Thickened nuchal skin fold, Patent ductus arteriosus, Ventricular septal de... OMIM:220500
Methimazole Embryofetopathy
Intrauterine growth retardation, Ventricular septal defect, Polyhydramnios ORPHA:1923
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Single umbilical artery, Intr... OMIM:300514
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect, Iris coloboma ORPHA:52055
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... ORPHA:3384
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... OMIM:158170
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricular tachy... OMIM:300855
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Intrauterine growth retardation, Flexion contracture, Ventricular septal de... OMIM:617452
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Prem... ORPHA:261330
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Optic disc ... OMIM:618454
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Premature birth, Polyhydramnios, Hydrocephalus, Fetal pericardial effu... OMIM:219730
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis OMIM:616559
Warsaw Breakage Syndrome
Intrauterine growth retardation, Optic disc coloboma, Ventricular septal defect, Tetralogy of Fallot OMIM:613398
Distal Deletion 19P
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... ORPHA:79329
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di... ORPHA:477817
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventricular septal defect OMIM:615630
Aase-Smith Syndrome I
Hydrocephalus, Flexion contracture, Ventricular septal defect OMIM:147800
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Intrauterine growth retardation, Ventricular septal defect, Heart murmur ORPHA:166035
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Intrauterine growth retardation, Limb joint contracture, Ventricular septal... ORPHA:505237
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve... OMIM:619657
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Duane-Radial Ray Syndrome
Upper limb muscle hypoplasia, Ventricular septal defect, Facial palsy, Small thenar eminence, Pec... OMIM:607323
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Spin... ORPHA:567
Brachydactyly, Type B1
Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Neu-Laxova Syndrome
Skeletal muscle atrophy, Decreased fetal movement, Spina bifida, Polyhydramnios, Flexion contract... ORPHA:2671
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Arrh... ORPHA:1519
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... OMIM:270100
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, P... ORPHA:261337
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Seckel Syndrome 9
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic her... OMIM:616777
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left h... OMIM:100300
Hallermann-Streiff Syndrome
Spina bifida, Optic disc coloboma, Telangiectasia, Hypertension, Chorioretinal coloboma, Pulmonar... OMIM:234100
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect ORPHA:75389
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale OMIM:614961
Noonan Syndrome 3
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo... OMIM:609942
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Intrauterine growth retardation, Patent fora... OMIM:620113
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Woods Syndrome
Ventricular septal defect OMIM:615236
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia OMIM:600145
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ventricular septal defect, Polyhydramnios, Hematochezia, Congenital pulmonary airway malformation... OMIM:243150
De Barsy Syndrome
Decreased fetal movement, Decreased muscle mass, Ventricular septal defect, Patent ductus arterio... ORPHA:2962
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Camptodactyly OMIM:619980
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... OMIM:600987
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... OMIM:619702
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... ORPHA:3097
Acrocardiofacial Syndrome
Truncus arteriosus, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Int... ORPHA:2008
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Aqueductal stenosis, Hydrocephalus, Single umbilical artery, Intrau... ORPHA:3412
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect, Iris coloboma OMIM:300472
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect ORPHA:85194
Jacobsen Syndrome
Ventricular septal defect, Premature birth, Spina bifida, Hypoplastic left heart, Intrauterine gr... ORPHA:2308
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Severe intrauterine growth retardation, Subvalvu... OMIM:614114
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Fanconi Anemia, Complementation Group I
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ... OMIM:609053
22Q11.2 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... ORPHA:1727
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus... OMIM:257920
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Limb hypertonia OMIM:616920
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow... OMIM:602782
Trisomy 20P
Umbilical hernia, Camptodactyly of finger, Spina bifida ORPHA:261318
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Oculodentodigital Dysplasia
Umbilical hernia, Arrhythmia, Ventricular septal defect, Camptodactyly of finger ORPHA:2710
Myopathy With Extrapyramidal Signs
Calf muscle hypertrophy, Ventricular septal defect OMIM:615673
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Transketolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... ORPHA:488618
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Sotos Syndrome
Decreased fetal movement, Ventricular septal defect, Muscular ventricular septal defect, Patent d... OMIM:117550
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Holoprosencephaly, Atrial septal defect, Cycl... ORPHA:261236
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ... OMIM:270450
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal d... OMIM:619534
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Iris coloboma OMIM:109400
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Holoprosencephaly, Chorioretinal coloboma, Umbilical hernia, Patent fo... OMIM:613884
Fanconi Anemia
Spina bifida, Hydrocephalus, Patent ductus arteriosus, Oligohydramnios, Abnormal cardiac septum m... ORPHA:84
Radio-Tartaglia Syndrome
Ventricular septal defect, Fetal distress OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, P... OMIM:300998
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma... OMIM:610443
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect OMIM:616449
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Facial palsy, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus,... OMIM:300373
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Singl... OMIM:192350
Filippi Syndrome
Intrauterine growth retardation, Ventricular septal defect ORPHA:3255
Marshall-Smith Syndrome
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Premature ventricular contrac... OMIM:602535
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Rig... OMIM:617506
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Abnormality of prenatal development or bi... ORPHA:33364
Short Stature-Micrognathia Syndrome
Skeletal muscle hypertrophy, Intrauterine growth retardation, Ventricular septal defect OMIM:617164
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Ventricular septal defect ORPHA:3078
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Macroglossia, Arrhythmia, Tetralogy of Fallot ORPHA:261494
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Heart ... OMIM:614866
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Hydrops fetalis, Chori... ORPHA:268249
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida,... OMIM:274000
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect, Premature birth, Abnormality of prenatal development or birth, Ventous... OMIM:619229
Nail-Patella Syndrome
Biceps aplasia, Spina bifida, Absence of pectoralis minor muscle, Triceps aplasia, Quadriceps apl... OMIM:161200
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Macroglossia, Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventric... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventric... ORPHA:363958
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thickened nuchal skin fold, Ventricular septal defect, Polyhydramnios, Lymphedema, Ascites OMIM:235255
Codas Syndrome
Ventricular septal defect ORPHA:1458
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Single umbilical artery, Ventricular septal defect OMIM:145420
Bohring-Opitz Syndrome
Ventricular septal defect, Polyhydramnios, Flexion contracture, Camptodactyly, Atrial septal defe... OMIM:605039
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Hajdu-Cheney Syndrome
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Aortic valve stenosis, Umbili... ORPHA:955
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:617159
Congenital Tracheomalacia
Ventricular septal defect, Premature birth, Cardiomegaly, Patent ductus arteriosus, Partial anoma... ORPHA:95430
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Paten... ORPHA:464311
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:300166
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly OMIM:619123
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Transpos... ORPHA:1780
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Holoprosencephaly, Congenital diaphragmatic hernia OMIM:612530
Opitz Gbbb Syndrome
Umbilical hernia, Ventricular septal defect OMIM:300000
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Mitral stenosis, Oligohydram... ORPHA:96201
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C... ORPHA:373
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Opitz Gbbb Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal he... ORPHA:2745
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Double outlet righ... OMIM:301043
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Camptodactyly, Atri... OMIM:300963
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Hajdu-Cheney Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Umbilical hernia, Iris coloboma OMIM:102500
Jacobsen Syndrome
Ventricular septal defect, Hydrocephalus, Flexion contracture, Holoprosencephaly, Chorioretinal c... OMIM:147791
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Heart murmur, Intracranial he... ORPHA:163979
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610759
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Premature birth, Congestive heart failure, Small t... OMIM:105650
Cohen Syndrome
Decreased fetal movement, Ventricular septal defect, Mitral valve prolapse, Intrauterine growth r... ORPHA:193
3Q29 Microduplication Syndrome
Aniridia, Ventricular septal defect, Iris coloboma, Camptodactyly of toe ORPHA:251038
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Iris coloboma OMIM:601707
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonary art... ORPHA:163956
Down Syndrome
Thickened nuchal skin fold, Prenatal double bubble sign, Ventricular septal defect, Complete atri... OMIM:190685
8Q24.3 Microdeletion Syndrome
Branchial cyst, Gastrointestinal hemorrhage, Ventricular septal defect, Atrioventricular canal de... ORPHA:508488
Diets-Jongmans Syndrome
Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Breech presentation, ... OMIM:618846
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Chorioretinal coloboma ORPHA:96097
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Contracture of the proximal interphalangeal joint of the 5th finger, J... OMIM:280000
Velocardiofacial Syndrome
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect OMIM:192430
Ulnar-Mammary Syndrome
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... ORPHA:3138
19Q13.11 Microdeletion Syndrome
Intrauterine growth retardation, Ventricular septal defect ORPHA:217346
Holoprosencephaly 14
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... OMIM:619895
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Congenital pulmonary airway malformat... OMIM:611812
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Ventricular septal defect, Mitral regurgitation, Congeni... OMIM:615582
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly, Atrial septal defect, ... OMIM:617602
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Mosaic Trisomy 1
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... ORPHA:1692
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Zellweger Syndrome
Thickened nuchal skin fold, Ventricular septal defect, Premature birth ORPHA:912
Renal Agenesis
Hypertension, Ventricular septal defect, Oligohydramnios ORPHA:411709
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Flexion contra... OMIM:180849
Hardikar Syndrome
Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an... OMIM:301068
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Spina bifida, Patent ductus arteriosus, Unilateral facial palsy, Atrioventricular ca... OMIM:619480
Syndromic Diarrhea
Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:84064
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Type 1 muscle fi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Type 1 muscle fi... ORPHA:352665
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... ORPHA:209905
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Neurofibromatosis, Type I
Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension OMIM:162200
Alobar Holoprosencephaly
Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, N... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, N... ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, N... ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, N... ORPHA:220386
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary valve atresia, Atrial septal defect, Intrauterine growth ret... OMIM:301030
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve OMIM:616652
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Optic disc coloboma, Coloboma, Atrial septal ... ORPHA:251014
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema OMIM:606232
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal... OMIM:607721
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... OMIM:616894
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic steno... ORPHA:488632
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter... ORPHA:464306
Costello Syndrome
Ventricular septal defect, Premature birth, Rhabdomyosarcoma, Polyhydramnios, Hydrocephalus, Achi... OMIM:218040
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... OMIM:142900
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... ORPHA:96167
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... OMIM:614609
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Ventricular septal... ORPHA:79345
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Coloboma, Ventricular septal defect ORPHA:251028
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... ORPHA:500095
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Um... ORPHA:97360
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Rabson-Mendenhall Syndrome
Ventricular septal defect, Macroglossia, Cardiomyopathy, Atrial septal defect, Intrauterine growt... ORPHA:769
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula... OMIM:614294
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Hydrocephalus, Ventricular septal defect, Caesarian section OMIM:619575
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave, Limb h... ORPHA:444072
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Angina pectoris, Lymphedema, Pericardial effusion, Int... ORPHA:79318
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... OMIM:178110
Trichohepatoneurodevelopmental Syndrome
Decreased fetal movement, Ventricular septal defect, Premature birth, Polyhydramnios, Patent duct... OMIM:618268
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Flexion contracture, Ventricular septal defect OMIM:309520
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Contracture of ... ORPHA:464738
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Marden-Walker Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... ORPHA:2461
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, Patent ductus arteriosus, Ventricular septal defect, Breech presentation OMIM:214100
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure, Meningocele, Mitra... ORPHA:558
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Patent ductus arterios... ORPHA:96121
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal... ORPHA:1507
C Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:211750
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Nuchal cord, Bicuspid aortic valve, Ventricular septal defect,... OMIM:619475
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di... OMIM:613309
Orofaciodigital Syndrome Vi
Occipital meningocele, Hypoplastic left heart OMIM:277170
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect OMIM:123700
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ascites, Ventricular septal defect, Polyhydramnios ORPHA:1655
Chops Syndrome
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve... OMIM:616368
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele, Hydrops fetalis ORPHA:2879
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Holoprosencephaly, Neonatal death, Intrauter... OMIM:146510
Liver Disease, Severe Congenital
Pulmonary edema, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of ... OMIM:619991
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:610338
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Flexion contracture of finger, Meningocele, Digital constriction ring ORPHA:1010
Degcags Syndrome
Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Premature birth, Polyhydramnio... OMIM:619488
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Smith-Lemli-Opitz Syndrome
Decreased fetal movement, Ventricular septal defect, Premature birth, Breech presentation, Hydroc... OMIM:270400
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Macroglossia, Ventricular septal defect, Patent foramen ovale OMIM:613457
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Intrauterine growth... ORPHA:2209
Larsen Syndrome
Atrial septal defect, Intrauterine growth retardation, Spina bifida occulta, Ventricular septal d... OMIM:150250
Hydrolethalus Syndrome 1
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Anencephaly, S... OMIM:236680
Arima Syndrome
Occipital meningocele, Hypertension, Chorioretinal coloboma OMIM:243910
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Diaphragmatic Hernia 4, With Cardiovascular Defects
Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Aortopulmonary window, Apla... OMIM:620025
Charge Syndrome
Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... OMIM:214800
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Limb hypertonia OMIM:609460
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Increased nuchal tran... ORPHA:818
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Po... OMIM:312870
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Breech presentation, Hy... OMIM:210710
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent... ORPHA:466791
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... OMIM:143095
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly, Umbilical hernia, Intra... OMIM:616145
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma... OMIM:615948
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe... ORPHA:904
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Orofaciodigital Syndrome V
Optic disc coloboma, Ventricular septal defect, Tetralogy of Fallot OMIM:174300
Campomelic Dysplasia
Spina bifida, Polyhydramnios, Contracture of the distal interphalangeal joint of the fingers, Hyd... OMIM:114290
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Feingold Syndrome 1
Decreased fetal movement, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent d... OMIM:164280
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Patent ductus arteriosus, Coloboma, Intrauterine growth retardation, P... OMIM:616975
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis OMIM:263520
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Coloboma, Retinal co... OMIM:617107
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom... ORPHA:573278
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Breech presentation, Patent ductus arteriosus, F... OMIM:617140
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Camptodactyly OMIM:272950
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353281
Craniofacioskeletal Syndrome
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept... OMIM:300712
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios OMIM:600373
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Polyhydramnios OMIM:615503
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Premature birth, Congenital diaphragmatic hernia, Aqueductal stenosis,... OMIM:154400
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrocephalus, Increased nuchal transluc... ORPHA:3472
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... ORPHA:2473
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am... OMIM:616268
Esophageal Atresia
Ventricular septal defect, Polyhydramnios, Coloboma, Absence of stomach bubble on fetal sonograph... ORPHA:1199
Coffin-Siris Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... ORPHA:1465
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor... ORPHA:444077
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... OMIM:249420
Congenital Tracheal Stenosis
Ventricular septal defect, Fetal ascites, Polyhydramnios, Patent ductus arteriosus, 5-minute APGA... ORPHA:141127
Peters-Plus Syndrome
Ventricular septal defect, Diastasis recti, Polyhydramnios, Hydrocephalus, Patent ductus arterios... OMIM:261540
Aicardi Syndrome
Optic disc coloboma, Spina bifida OMIM:304050
Omodysplasia 1
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:258315
Microphthalmia, Syndromic 3
Coloboma, Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Cornelia De Lange Syndrome 1
Ventricular septal defect, Congenital diaphragmatic hernia, Optic disc coloboma, Elbow flexion co... OMIM:122470
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Proboscis Lateralis
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Holoprosencephaly, Chor... ORPHA:141099
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... ORPHA:353277
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Ventricular septal defect ORPHA:1934
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Mitra... ORPHA:363700
Fryns Syndrome
Ventricular septal defect, Polyhydramnios, Aplasia of the left hemidiaphragm, Stillbirth, Chyloth... OMIM:229850
Cardiospondylocarpofacial Syndrome
Decreased fetal movement, Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ve... OMIM:157800
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Apert Syndrome
Hydrocephalus, Overriding aorta, Ventricular septal defect OMIM:101200
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect OMIM:244450
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Hydrocephalus, Frontal ence... OMIM:268300
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Chime Syndrome
Ventricular septal defect, Tetralogy of Fallot, Retinal coloboma, Transposition of the great arte... ORPHA:3474
Noonan Syndrome 1
Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Chylothorax, Pulmonic stenosis, ... OMIM:163950
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Flexion contracture, Ventricular septal defect OMIM:227645
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Phace Association
Patent ductus arteriosus, Ventricular septal defect OMIM:606519
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Flexion contracture, Knee flexion contracture, Diaphragmatic eventration, Foot dor... OMIM:619503
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Supravalvular aortic steno... OMIM:194050
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Coffin-Siris Syndrome 1
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Tetralogy o... OMIM:135900
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Ventricula... OMIM:619472
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Atr... ORPHA:3047
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect OMIM:619306
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Spina bifida, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia OMIM:304120
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... OMIM:301044
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Ventricular septal defect, Congenital pulmonary airway malformat... ORPHA:436252
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... OMIM:271640
Okamoto Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... ORPHA:2729
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Weakness of facial musculature, Ventricular septal defect, Premature birth OMIM:619418
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Ventricular septal defect, Ventricular septal hypertrophy, Oligo... OMIM:608670
Townes-Brocks Syndrome 1
Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Chorioretinal coloboma, Atrial septa... OMIM:107480
Mosaic Trisomy 20
Abnormal mitral valve morphology, Intrauterine growth retardation, Dysplastic tricuspid valve, Ve... ORPHA:1724
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Cerebrocostomandibular Syndrome
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Elbow flexion contracture, A... OMIM:117650
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Coloboma, Joint contracture of the hand, Campt... OMIM:309500
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Oligohydramnios, Distal arthrogryposis, Holo... ORPHA:672
Mowat-Wilson Syndrome
Ventricular septal defect, Patent ductus arteriosus, Generalized muscle hypertrophy, Abnormal hea... OMIM:235730
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ... OMIM:613458
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:600460
Wolf-Hirschhorn Syndrome
Decreased fetal movement, Decreased muscle mass, Ventricular septal defect, Hydrocephalus, Atrial... OMIM:194190
Diamond-Blackfan Anemia
Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Atrial septal de... ORPHA:124
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:438213
Digeorge Syndrome
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Truncus arteriosus, Tetral... OMIM:188400
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Lower-limb joint... ORPHA:459070
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Ventricular septal defect OMIM:620330
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect OMIM:181450
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect, Retinal coloboma ORPHA:434179
Sotos Syndrome
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Bilateral camptodactyly, F... ORPHA:821
Keutel Syndrome
Hypertension, Ventricular septal defect, Pulmonic stenosis OMIM:245150
Cornelia De Lange Syndrome
Ventricular septal defect, Premature birth, Congenital diaphragmatic hernia, Prenatal movement ab... ORPHA:199
Pallister-Killian Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydr... OMIM:601803
Johanson-Blizzard Syndrome
Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A... OMIM:243800
Alagille Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:118450
Alzahrani-Kuwahara Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement OMIM:619268
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Yunis-Varon Syndrome
Ventricular septal defect, Premature birth, Polyhydramnios, Hydrops fetalis, Heart murmur, Pulmon... OMIM:216340
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Hydrocephal... OMIM:164210
Penile Agenesis
Atrial septal defect, Fetal pyelectasis, Ventricular septal defect, Oligohydramnios ORPHA:49
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept... OMIM:619522
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Patent duc... ORPHA:261552
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Ventricular septal defect ORPHA:513456
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Kabuki Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect OMIM:147920
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Genitopatellar Syndrome
Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Atrial sept... OMIM:606170
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Elbow flexion contracture OMIM:276820
Coffin-Siris Syndrome 2
Macroglossia, Intrauterine growth retardation, Abnormal heart morphology OMIM:614607

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 Arid1a

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 Arid1a.

No publications found that use IMPC mice or data for Arid1a.

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
Arid1atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Arid1atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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