banner
Genes Phenotypes Help, News, Blog

Gene: Arid1a MGI:1935147

Log in to follow
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
Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular sept... ORPHA:1465
Coffin-Siris Syndrome 2
Abnormal heart morphology, Macroglossia, Intrauterine growth retardation 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
Endocardial fibroelastosis, Patent ductus arteriosus, Third degree atrioventricular block, Pleura... ORPHA:60041
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... OMIM:616276
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Small placenta, Abnormal heart morphology, Intra... ORPHA:439167
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Pyknoachondrogenesis
Stillbirth OMIM:265880
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Abnormal heart morphology, Ascites,... ORPHA:1041
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Breech presentation, Increased myocardial g... OMIM:261740
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Bradycardia, Flexio... OMIM:618815
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Congestive heart failure, Intrauterine growth retardation, Left ventricu... OMIM:619048
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Idiopathic Congenital Hypothyroidism
Facial edema, Macroglossia, Umbilical hernia, Bradycardia ORPHA:95717
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Cardiomyopathy, Ascites, Portal hypertension, Decreased fetal movement, ... OMIM:232500
Meckel Syndrome, Type 8
Pericardial effusion, Anhydramnios, Occipital encephalocele, Encephalocele OMIM:613885
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia OMIM:618235
Cantu Syndrome
Congenital hypertrophy of left ventricle, Umbilical hernia, Lymphedema, Cardiomegaly, Bicuspid ao... OMIM:239850
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:614302
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti, Ventricular septal ... ORPHA:254534
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,... ORPHA:363705
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Decreased fetal movement, Bradycardia ORPHA:2898
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Intrauterine growth retardation, Left ventric... OMIM:614654
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste... OMIM:618775
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:615297
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... ORPHA:26793
Aminoacylase 1 Deficiency
Breech presentation, Bradycardia OMIM:609924
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... OMIM:613426
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Intrauterine growth retardation, Oligohydramnios ORPHA:397590
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta, Intrauterine growth retardation, Severe intrauterine growth retardation ORPHA:73272
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre... OMIM:212138
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Congenital Tricuspid Valve Dysplasia
Premature birth, Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid val... ORPHA:555874
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Cardiomyopathy, Fetal distress, Pleural effusion, Polyhydramnios, Dec... ORPHA:292
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Fetal distress, Ascites, Pleural effusion, Bradycardia, Cerebral h... OMIM:617397
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Left ventricular non... OMIM:617228
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Familial Thyroid Dyshormonogenesis
Facial edema, Macroglossia, Umbilical hernia, Bradycardia ORPHA:95716
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m... OMIM:252011
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Bradycardia, EMG: myo... OMIM:609286
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... ORPHA:1909
Infant Acute Respiratory Distress Syndrome
Hypotension, Pulmonary edema, Bradycardia, Tachycardia, Cardiac arrest, Premature birth ORPHA:70587
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Decreased fetal movement, Limb hype... OMIM:620070
Fetal Akinesia Deformation Sequence 1
Congenital contracture, Premature birth, Decreased muscle mass, Camptodactyly of finger, Small pl... OMIM:208150
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Umbilical hernia, Bradycardia ORPHA:226313
Eng-Strom Syndrome
Intrauterine growth retardation, Ventricular septal defect, Abnormal cardiac septum morphology, C... ORPHA:1937
Nemaline Myopathy 9
Nemaline bodies, Ventricular septal defect, Fetal akinesia sequence, Breech presentation, Polyhyd... OMIM:615731
Romano-Ward Syndrome
Abnormality of prenatal development or birth, Abnormal T-wave, Torsade de pointes, Sinus bradycar... ORPHA:101016
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Decreased muscle mass... ORPHA:263297
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Decr... OMIM:253300
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Neu-Laxova Syndrome 1
Generalized edema, Hydranencephaly, Joint contracture of the hand, Small placenta, Intrauterine g... OMIM:256520
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Congenital Disorder Of Glycosylation, Type Il
Ascites, Fetal skin edema, Decreased fetal movement, Atrial septal defect, Pericardial effusion, ... OMIM:608776
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Mitral valve prolapse, Spina bifida, Sm... OMIM:211960
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Periorbital edema, Joint contracture of the hand, Umbilical hernia, Lymphedema, Pleural effusion,... OMIM:235510
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Pedal edema, Right ventricular failure, H... ORPHA:99095
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Hypocomplementemic Urticarial Vasculitis
Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Pericardial effusion, Sma... ORPHA:36412
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis ORPHA:231111
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Sinus bradycardia OMIM:126320
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Bradycard... ORPHA:40366
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Glutamine Deficiency, Congenital
Camptodactyly, Neonatal death, Flexion contracture, Bradycardia OMIM:610015
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia OMIM:614407
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy OMIM:620089
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Aicardi-Goutieres Syndrome 9
Lower limb hypertonia, Ascites, Intrauterine growth retardation, Portal hypertension, Left ventri... OMIM:619487
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e... ORPHA:199241
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ... ORPHA:70
Necrotizing Enterocolitis
Hypotension, Shock, Ascites, Abnormal heart morphology, Bradycardia, Edema, Premature birth ORPHA:391673
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Restrictive Dermopathy
Camptodactyly of finger, Small placenta, Intrauterine growth retardation, Large placenta, Short u... ORPHA:1662
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Limb hypertonia, Joint contracture, Bradycardia OMIM:614498
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Umbilical hernia, Edema, Bradycardia ORPHA:90673
Danon Disease
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... OMIM:300257
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Anasarca, Ascites, Pleural effusion, Polyhydramnios, Coloboma, Pericardial effusion OMIM:618183
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis ORPHA:846
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... OMIM:619167
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Intrauterine growth retardation, Ventricular septal defect, Breech presentation, Bradycardia, Ret... OMIM:614653
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Decreased fetal movement, Ventricular septal defect OMIM:619717
Pediatric Systemic Lupus Erythematosus
Ascites, Pleural effusion, Myositis, Raynaud phenomenon, Pericardial effusion, Edema ORPHA:93552
Acute Interstitial Pneumonia
Pericardial effusion, Peripheral edema, Hypertension, Pleural effusion ORPHA:79126
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal... ORPHA:1120
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Intrauterine growth retardation, Large placenta, Diastasis recti, Polyhydramnio... ORPHA:254528
Alkuraya-Kucinskas Syndrome
Arthrogryposis multiplex congenita, Pleural effusion, Hydrocephalus, Camptodactyly, Pericardial e... OMIM:617822
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Mosaic Trisomy 16
Abnormal heart morphology, Intrauterine growth retardation, Large placenta, Ventricular septal de... ORPHA:1708
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... OMIM:220210
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal... ORPHA:49827
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Hydranencephaly, Ventricular septal defect OMIM:601355
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Flexion contracture, Abnormality... OMIM:212065
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Coloboma,... OMIM:618652
Crimean-Congo Hemorrhagic Fever
Retinal hemorrhage, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Ascites, Hemot... ORPHA:99827
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... OMIM:603830
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca... OMIM:613870
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia OMIM:619272
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Atrial septal defect, ... OMIM:611134
Grange Syndrome
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia, Camptodactyly of finger ORPHA:1759
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat... OMIM:609040
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Illum Syndrome
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia OMIM:208155
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Tetralogy of Fallot, Intrauterine growth retardation, Large placenta, Abnor... OMIM:222470
Congenital Syphilis
Intrauterine growth retardation, Large placenta, Hydrocephalus, Myocarditis, Hydrops fetalis, Pre... ORPHA:499009
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Coloboma, Hydrocephalus, Meningocele, Intracranial hemo... OMIM:614424
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Second degree atrioventricular block, Ascites, Intrauterine growth re... OMIM:617021
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Alg9-Cdg
Hypoplasia of the musculature, Thickened nuchal skin fold, Tricuspid regurgitation, Abnormal hear... ORPHA:79328
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma, Holoprosencephaly, Anterior encephalocele, Ventricular septal defect OMIM:601357
Q Fever
Vasculitis, Abnormal heart valve morphology, Pleural effusion, Myocarditis, Abnormal left ventric... ORPHA:781
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Primary Intestinal Lymphangiectasia
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Edema ORPHA:90362
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ... OMIM:601927
Kaposiform Lymphangiomatosis
Epistaxis, Pleural effusion, Pericardial effusion, Subconjunctival hemorrhage, Epidural hemorrhage ORPHA:464329
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent... ORPHA:1354
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Spina bifida, Ventricular septal defect ORPHA:2345
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Limb hypertonia, Congenital foot contractures, Bradycardia ORPHA:565624
Poems Syndrome
Ascites, Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion, Edema ORPHA:2905
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, L... OMIM:615355
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Macroglossia, Umbilical hernia, Bradycardia ORPHA:90674
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septa... OMIM:612938
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Colobom... ORPHA:329224
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Lujo Hemorrhagic Fever
Facial edema, Periorbital edema, Hypotension, Generalized edema, Shock, Cerebral edema, Bradycard... ORPHA:319213
Noonan Syndrome 12
Tetralogy of Fallot, Supravalvular aortic stenosis, Polyhydramnios, Ventricular septal defect OMIM:618624
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydr... OMIM:615846
Humero-Radial Synostosis
Meningocele, Iris coloboma, Chorioretinal coloboma ORPHA:3265
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defect OMIM:249270
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Atrioventricular block, ... ORPHA:1329
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Decreased fetal movement, Ventricular septal def... OMIM:607598
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... ORPHA:2299
D-Glyceric Aciduria
Patent ductus arteriosus, Bradycardia OMIM:220120
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pulmonary arterial hypertension, Abn... ORPHA:77261
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Donnai-Barrow Syndrome
Iris coloboma, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:2143
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Triploidy
Intrauterine growth retardation, Hydrocephalus, Abnormal cardiac septum morphology, Polyhydramnio... ORPHA:3376
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Schisis Association
Congenital diaphragmatic hernia, Encephalocele, Spina bifida, Anencephaly, Premature birth ORPHA:63862
Sepsis In Premature Infants
Hypotension, Caesarian section, Bradycardia, Tachycardia, Edema, Premature birth ORPHA:90051
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Tricuspid regurgitation, Fetal distress, Mitral regurgitation, Ventricular sept... OMIM:615879
Intellectual Developmental Disorder, Autosomal Dominant 48
Umbilical hernia, Echogenic intracardiac focus, Intrauterine growth retardation, Ventricular sept... OMIM:617751
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse, Umbilical hernia ORPHA:536532
Myhre Syndrome
Aortic valve stenosis, Skeletal muscle hypertrophy, Intrauterine growth retardation, Pericardial ... OMIM:139210
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... OMIM:614262
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Decreased fetal movement, Myopathy, Ventricular s... OMIM:616816
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bic... ORPHA:500159
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... ORPHA:73224
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Oligohydramnios, Congenital diaphragmatic hernia, Hypoplasia of the diap... OMIM:614437
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Bohring-Opitz Syndrome
Congenital contracture, Intrauterine growth retardation, Cardiomegaly, Coloboma, Abnormal cardiac... ORPHA:97297
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, Rhabdomyolysis, ST segment... ORPHA:358
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Camptodactyly, Pericardial effusion, Patent ductu... ORPHA:1272
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive... OMIM:620609
Phakomatosis Pigmentokeratotica
Lymphedema, Arrhythmia, Coloboma, Raynaud phenomenon, Spina bifida, Rhabdomyosarcoma ORPHA:2874
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... ORPHA:1209
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect, C... OMIM:615583
Joubert Syndrome 18
Camptodactyly, Intrauterine growth retardation, Occipital encephalocele, Ventricular septal defect OMIM:614815
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ... OMIM:615996
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Rhabdomyolysis, Arrhythmia, Bradycardia, Ta... ORPHA:94093
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Chorioretinal coloboma, Abnormal heart morphology, Ventricular septal de... ORPHA:284169
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ... OMIM:179613
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect ORPHA:3469
Limb Body Wall Complex
Iris coloboma, Amniotic constriction ring, Myelomeningocele, Abnormal heart morphology, Abnormal ... ORPHA:2369
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Ventricular septal defect, Aplasia/Hypoplasia of the abdo... ORPHA:1926
Emanuel Syndrome
Aortic valve stenosis, Thickened nuchal skin fold, Intrauterine growth retardation, Oligohydramni... OMIM:609029
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce... ORPHA:99094
Chromosome 5Q12 Deletion Syndrome
Hypotension, Increased nuchal translucency, Patent foramen ovale, Ventricular septal defect, Atri... OMIM:615668
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... ORPHA:97214
Meckel Syndrome, Type 1
Iris coloboma, Occipital encephalocele, Camptodactyly of finger, Intrauterine growth retardation,... OMIM:249000
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Alg3-Cdg
Macroglossia, Neural tube defect, Arthrogryposis multiplex congenita, Cardiomyopathy ORPHA:79321
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Neonatal death, Congenital diaphragmatic hernia, Ventricular septal defect OMIM:615524
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... OMIM:612561
Kagami-Ogata Syndrome
Polyhydramnios, Large placenta, Diastasis recti, Premature birth ORPHA:254519
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Hydrocephalus, Spina bifida OMIM:207950
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Pleural effusion, Ventricu... OMIM:616897
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect ORPHA:398156
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Li-Campeau Syndrome
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Myopathy ORPHA:588
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Chorioretinal coloboma, Meningocele ORPHA:2481
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pulmonary arterial hypertension, Hydrocephalus, Bradycardia, Tachycardia, Cardiac ar... OMIM:277400
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:619769
Roifman Syndrome
Intrauterine growth retardation, Hip contracture, Ventricular septal defect, Noncompaction cardio... OMIM:616651
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Intrauterine growth retardation, Single umbilical artery, Ventricular sep... ORPHA:2772
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Supraventricular arrhy... ORPHA:91347
Restrictive Dermopathy 1
Premature rupture of membranes, Spontaneous chorioamniotic separation, Intrauterine growth retard... OMIM:275210
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618330
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Myelomeningocele, Spina bifida, Dextrocardia, Hydrocephalus, Spina bi... ORPHA:2437
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiec... OMIM:612582
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Chorioretinal coloboma, Umbilica... OMIM:115470
Ventricular Septal Defect 3
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Chorioretinal coloboma, Tetralogy of Fallot, Atrio... ORPHA:7
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Tyshchenko Syndrome
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Polyhydramnios,... OMIM:615102
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Umbilical hernia, Abnormal heart morphology, Patent foramen ova... ORPHA:369891
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Greenberg Dysplasia
Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Neonatal death, Stillbi... OMIM:215140
Combined Oxidative Phosphorylation Deficiency 39
Congenital contracture, Intrauterine growth retardation, Sinus bradycardia, Joint contracture, Fl... OMIM:618397
Scimitar Syndrome
Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea... ORPHA:185
Wildervanck Syndrome
Meningocele, Facial palsy ORPHA:3456
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Hydrocephalus, Chylopericardium ORPHA:538
Intellectual Developmental Disorder, Autosomal Dominant 72
Facial hypotonia, Spina bifida OMIM:620439
Chédiak-Higashi Syndrome
Pericardial effusion, Epistaxis, Pleural effusion, Edema ORPHA:167
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Umbilical hernia, Bradycardia OMIM:218700
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:618974
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... OMIM:613854
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida, Scapular winging, Camptodactyly of finger ORPHA:1327
Mosaic Trisomy 9
Camptodactyly of finger, Abnormal heart valve morphology, Intrauterine growth retardation, Endoca... ORPHA:99776
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Pelger-Huet Anomaly
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness, Umbilical hernia OMIM:169400
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Facial edema, Macroglossia, Umbilical hernia, Bradycardia ORPHA:226307
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Cooper-Jabs Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly of finger, Umbilical he... ORPHA:1488
Emanuel Syndrome
Aortic valve stenosis, Intrauterine growth retardation, Oligohydramnios, Congenital diaphragmatic... ORPHA:96170
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphragma... ORPHA:2311
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Camptodactyly of finger, Pericardial effusion, Hydrops fetalis ORPHA:2136
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Interphalangeal joint contracture of finger, Hypertrophic cardiomyopathy, Intr... ORPHA:96334
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... OMIM:306955
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Meningocele, Ventricular septal defect OMIM:620511
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal EKG, Reduce... ORPHA:980
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Ventricular septal defect, Truncus art... ORPHA:3426
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Fetal distress, Ascites, Transient ischemic attack, Left ventricular sys... ORPHA:51608
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Truncus arteriosus, Portal hypertension, Ventricular septal defect OMIM:616589
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Hypoplastic rig... OMIM:618142
Anophthalmia Plus Syndrome
Iris coloboma, Spina bifida ORPHA:1104
Hadziselimovic Syndrome
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect OMIM:612946
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, Ventricular septal ... OMIM:618870
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical hernia, Tetralogy of Fal... OMIM:600001
Acropectorovertebral Dysplasia
Spina bifida, Camptodactyly of finger ORPHA:957
Lateral Meningocele Syndrome
Iris coloboma, Meningocele, Ventricular septal defect, Umbilical hernia ORPHA:2789
Lateral Meningocele Syndrome
Decreased muscle mass, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Hydroc... OMIM:130720
Kagami-Ogata Syndrome
Diastasis recti, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect... OMIM:608149
Carpenter Syndrome 1
Joint contracture of the hand, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, ... OMIM:201000
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Encephaloc... ORPHA:1335
Focal Dermal Hypoplasia
Chorioretinal coloboma, Umbilical hernia, Camptodactyly of finger, Diastasis recti, Congenital di... ORPHA:2092
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Dehydration, Shock, Capillary leak, Internal hemorrhage,... ORPHA:99826
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:261243
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Umbilical hernia, Hypertrophic cardiomyopathy, Large placenta, Diastasi... ORPHA:116
Transaldolase Deficiency
Intrauterine growth retardation, Oligohydramnios, Patent foramen ovale, Ventricular septal defect... OMIM:606003
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Premature birth, Single umbilical artery, Ventricular septal defect ORPHA:2256
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Encephalocele, Congenital diaphragmatic hernia, A... ORPHA:991
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect, Single umbilical artery, Polyhydr... ORPHA:3405
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Transposition of... ORPHA:1913
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Umbilical hernia, Congestive heart failure... OMIM:601808
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... OMIM:603387
Congenital Rubella Syndrome
Intrauterine growth retardation, Atrial septal defect, Patent ductus arteriosus, Ventricular sept... ORPHA:290
Phaver Syndrome
Myelomeningocele, Intrauterine growth retardation, Camptodactyly of finger, Ventricular septal de... ORPHA:2876
Contractural Arachnodactyly, Congenital
Calf muscle hypoplasia, Elbow flexion contracture, Mitral regurgitation, Hip contracture, Mitral ... OMIM:121050
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Edema, Tricuspid regurgitation, Muscular ventricular septal defect, ... OMIM:212093
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Truncus arteriosus, Atrial septal defect, Ventricular septal defect ORPHA:401935
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele OMIM:603194
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Encephalocele, Ventricular septal defect, Atrial septal d... OMIM:264480
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Intrauterine growth retardation, Ventricular septal defect ORPHA:2516
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Ventricular septal d... ORPHA:254346
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Intellectual Developmental Disorder, Autosomal Dominant 47
Intrauterine growth retardation, Increased nuchal translucency, Single umbilical artery, Ventricu... OMIM:617635
Coffin-Siris Syndrome 7
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Single u... OMIM:618027
Lambotte Syndrome
Intrauterine growth retardation, Semilobar holoprosencephaly, Ventricular septal defect OMIM:245552
Trisomy 13
Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... ORPHA:3378
Trisomy 18
Iris coloboma, Camptodactyly of finger, Intrauterine growth retardation, Oligohydramnios, Congeni... ORPHA:3380
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Ventricular septal defect, Sp... ORPHA:1393
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Serkal Syndrome
Oligohydramnios, Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Genitopalatocardiac Syndrome
Transposition of the great arteries, Double outlet right ventricle, Ventricular septal defect OMIM:231060
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbilical hernia, Tetralogy of... ORPHA:2255
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Retinal coloboma, Tetralogy of Fallot, Atrioventricular canal defect, Ventr... ORPHA:508498
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral regurgitatio... OMIM:616564
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic... ORPHA:63260
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se... OMIM:153400
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Limb h... OMIM:619909
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Right Atrial Isomerism
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... OMIM:208530
Prune Belly Syndrome
Tetralogy of Fallot, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Aplasia of... ORPHA:2970
Pelvis-Shoulder Dysplasia
Hydranencephaly, Camptodactyly of finger, Retinal coloboma, Hydrocephalus, Spina bifida, Iris col... ORPHA:2839
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1770
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Fountain Syndrome
Facial edema, Spina bifida occulta, Spina bifida ORPHA:3219
Alagille Syndrome
Intrauterine growth retardation, Ventricular septal defect, Telangiectasia of the skin, Atrial se... ORPHA:52
Costello Syndrome
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal... ORPHA:3071
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Oligohydramnios, Increased nuchal translucency, Patent foramen ovale, ... OMIM:618494
Donnai-Barrow Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Iris coloboma, Diap... OMIM:222448
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Umbilical hernia, Retinal coloboma, Increased nuchal translucency, Ventr... OMIM:620654
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Stillbirth, Atrial septal defect, Ventricular septal defect OMIM:263630
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Abnormal heart morphology, Intrauterine growth retardation, Ventricular s... ORPHA:494344
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Iris coloboma, Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid... ORPHA:371428
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect OMIM:218350
Congenital Disorder Of Glycosylation, Type Iil
Intrauterine growth retardation, Ventricular septal defect, Hydrocephalus, Atrial septal defect, ... OMIM:614576
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Meacham Syndrome
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Stillbirth, Tetralogy of Fallot, Scim... OMIM:608978
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Intrauterine growth retardation, Oligohydramnios, Ventricular septal defect, Ca... ORPHA:96191
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Kapur-Toriello Syndrome
Joint contracture of the hand, Camptodactyly of finger, Retinal coloboma, Intrauterine growth ret... OMIM:244300
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Ogden Syndrome
Arrhythmia, Cardiogenic shock, Torticollis, Ventricular septal defect ORPHA:276432
Trisomy 1Q
Camptodactyly of finger, Increased nuchal translucency, Congenital diaphragmatic hernia, Ventricu... ORPHA:261344
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... OMIM:614921
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Secundum atrial septal defect, Fetal distress, Tetralogy of Fallot, In... OMIM:612562
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Intrauterine growth retardation, Ventricular septal defect, Double outlet right ventricle, Polyhy... OMIM:301056
Gm1 Gangliosidosis
Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Camptodactyly of finger, Ven... ORPHA:354
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Intrauterine growth retardation, Polyhydramnios, Ventricular septal defect, Atrial septal defect,... OMIM:617360
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Iris coloboma, Patent ductus arteriosus ORPHA:77298
Amish Lethal Microcephaly
Limb hypertonia, Spina bifida, Decreased fetal movement ORPHA:99742
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Chorioretinal coloboma ORPHA:2031
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Elbow flexion contracture, Oligohydramnios, Knee flexion contracture, Decreased... OMIM:613776
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa... ORPHA:453499
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Tetralogy of Fallot, Intrauterine growth retardation, Congenital diaphra... OMIM:601186
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Camptodactyly, Atrial septal defect, Mitral regurgitation, Ventricular septal defect OMIM:301039
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Retinal coloboma, Occipital meningocele, Congenital diaphragmatic hernia, Hydrocephalus, Atrial s... OMIM:616546
Short-Rib Thoracic Dysplasia 12
Ascites, Intrauterine growth retardation, Patent foramen ovale, Ventricular septal defect, Neonat... OMIM:269860
Kapur-Toriello Syndrome
Retinal coloboma, Tetralogy of Fallot, Ventricular septal defect, Iris coloboma, Patent ductus ar... ORPHA:2328
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Decreased fetal movement, Spina bifida, Polyhydramnios, Edema OMIM:616038
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion OMIM:181000
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Patent ductus arteriosus, Bradycardia OMIM:617248
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... OMIM:309801
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Dehydration, Edema, Bradycardia ORPHA:79404
Iniencephaly
Spinal dysraphism, Arthrogryposis multiplex congenita, Myelomeningocele, Encephalocele, Congenita... ORPHA:63259
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Ventricular septal defect,... ORPHA:99050
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Thickened nuchal skin fold, Umbilical hernia, Mitr... OMIM:618164
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Pul... OMIM:610733
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Holoprosencephaly
Spinal dysraphism, Chorioretinal coloboma, Tetralogy of Fallot, Branchial anomaly, Encephalocele,... ORPHA:2162
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Structural Heart Defects And Renal Anomalies Syndrome
Generalized edema, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Atrial sep... OMIM:617478
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Atrial septal defec... ORPHA:435638
Isolated Posterior Meningocele
Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube... ORPHA:268810
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arthrogry... OMIM:208085
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Patent du... OMIM:265380
Yellow Fever
Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal hemorrhage,... ORPHA:99829
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Edema, Ventricular septal defect OMIM:618348
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Intrauterine growth retardation, Oligohydramnios,... OMIM:617022
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Patent ductus arteriosus, Pulmonary arterial hypertension, Atrial septal defect, Ventricular sept... ORPHA:2519
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Perimembranous ventricular septal defect, Atrial septal defect, Heart ... OMIM:158170
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Iris coloboma, Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect ORPHA:52055
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Ogden Syndrome
Torsade de pointes, Ventricular septal defect, Pulmonary edema, Premature ventricular contraction... OMIM:300855
Distal Deletion 19P
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect, Umbilical hernia ORPHA:96129
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Ventricular septal defect, Single umbilical artery, Hydrocephalu... OMIM:300514
Methimazole Embryofetopathy
Polyhydramnios, Intrauterine growth retardation, Ventricular septal defect ORPHA:1923
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Camptodactyly of finger, Intrauterine growth retardation... ORPHA:261330
Developmental Delay With Or Without Dysmorphic Facies And Autism
Optic disc coloboma, Umbilical hernia, Congenital diaphragmatic hernia, Patent foramen ovale, Ven... OMIM:618454
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:613751
Warsaw Breakage Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Optic disc coloboma, Ventricular septal defect OMIM:613398
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Umbilical hernia, Congestive heart failure, Elbow flexion contracture, Mit... OMIM:608328
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retarda... ORPHA:3384
Mgat2-Cdg
Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Hydrops fetalis, Patent ductus ... ORPHA:79329
Ventriculomegaly With Cystic Kidney Disease
Fetal pericardial effusion, Ventricular septal defect, Hydrocephalus, Polyhydramnios, Premature b... OMIM:219730
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect OMIM:616559
ERI1-related disease
Tricuspid regurgitation, Abnormal heart morphology, Intrauterine growth retardation, Ventricular ... OMIM:608739
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Heart murmur, Intrauterine growth retardation, Ventricular septal defect ORPHA:166035
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve... ORPHA:477817
Aase-Smith Syndrome I
Flexion contracture, Hydrocephalus, Ventricular septal defect OMIM:147800
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Optic disc coloboma, Camptodactyly of finger, Tricuspid regurgitation, Palpebr... ORPHA:261337
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2671
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increased nuchal tran... OMIM:605275
Hallermann-Streiff Syndrome
Iris coloboma, Chorioretinal coloboma, Optic disc coloboma, Telangiectasia, Pulmonary arterial hy... OMIM:234100
Duane-Radial Ray Syndrome
Retinal coloboma, Pectoralis hypoplasia, Ventricular septal defect, Atrial septal defect, Small t... OMIM:607323
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Seckel Syndrome 9
Intrauterine growth retardation, Congenital diaphragmatic hernia, Decreased fetal movement, Ventr... OMIM:616777
Specc1L-Related Hypertelorism Syndrome
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defec... ORPHA:1519
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Secundum atrial septal defect, Atrial septal defect, Ve... OMIM:600987
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect ORPHA:1455
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect ORPHA:75389
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect OMIM:617516
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Encephalocele, Ventricular se... OMIM:100300
De Barsy Syndrome
Premature rupture of membranes, Decreased muscle mass, Umbilical hernia, Intrauterine growth reta... ORPHA:2962
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Patent ductus arteriosus after premature birth, Knee flexion co... OMIM:620454
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Umbilical hernia, Tetralogy of Fallot, Intraute... ORPHA:567
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Intrauterine growth retardation, Ventricu... OMIM:243150
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Intrauterine growth retardation, Oligohydramnios, Patent foramen ovale, Ventricular septal defect... OMIM:620113
Acrocardiofacial Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Intrauterine growth retardation, Mitral stenosis, V... ORPHA:2008
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Congenita... ORPHA:3097
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... OMIM:619702
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Iris coloboma, Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect OMIM:300472
Vacterl With Hydrocephalus
Intrauterine growth retardation, Hydrocephalus, Spina bifida, Single umbilical artery, Polyhydram... ORPHA:3412
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Shortened PR interval, Ventricular septal hypertrophy, Wolff-Parkinson... OMIM:614947
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Intrauterine growth retardation, Ventricular septa... ORPHA:2308
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Intrauterine growth retardation, Ventricular septal defect, Subvalvular aor... OMIM:614114
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,... OMIM:617506
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Trisomy 20P
Spina bifida, Camptodactyly of finger, Umbilical hernia ORPHA:261318
Sacral Defect With Anterior Meningocele
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal... OMIM:192350
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Atrial septal defect, Patent foramen ovale, Ventricular septal d... OMIM:609053
Oculodentodigital Dysplasia
Arrhythmia, Ventricular septal defect, Camptodactyly of finger, Umbilical hernia ORPHA:2710
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Cardiac fibroma, Hydrocephalus, Spina bifida, Iris coloboma OMIM:109400
Fanconi Anemia
Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Intrauterine growth retardati... ORPHA:84
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Facial telangiectasia, Joint contracture of t... OMIM:602782
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
3Mc Syndrome 1
Diastasis recti, Ventricular septal defect, Conjunctival telangiectasia, Atrial septal defect, Sp... OMIM:257920
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Neonatal death, Dextrocardia... OMIM:619534
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Cyclopia, Holoprosencep... ORPHA:261236
Koolen-De Vries Syndrome
Intrauterine growth retardation, Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of ... OMIM:610443
Chromosome 13Q14 Deletion Syndrome
Chorioretinal coloboma, Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Holopr... OMIM:613884
Marshall-Smith Syndrome
Umbilical hernia, Ventricular septal defect, Premature ventricular contraction, Pulmonary arteria... OMIM:602535
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Oligohydramnios, Polyhydramnios, Ventricular septal defect, Atrial... OMIM:300373
Kleefstra Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Macroglossia ORPHA:261494
Trichothiodystrophy
Abnormality of prenatal development or birth, Cardiomyopathy, Umbilical hernia, Intrauterine grow... ORPHA:33364
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septa... OMIM:620663
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Fetal distress, Tricuspid regurgitation, Palpebral edema, Intrauterine grow... OMIM:614866
Nail-Patella Syndrome
Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Absence of pectoralis minor muscle, Spina bi... OMIM:161200
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp... ORPHA:363958
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar... ORPHA:95430
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Congenital diaphragmatic hernia, Ventricular septal defect, Hydrocephalus... ORPHA:268249
Teebi Hypertelorism Syndrome 1
Single umbilical artery, Atrial septal defect, Ventricular septal defect OMIM:145420
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect, Umbilical hernia OMIM:301040
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Edema of the dorsu... OMIM:274000
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Lymphedema, Ascites, Ventricular septal defect, Thickened nuchal skin fold, Polyhydramnios OMIM:235255
Hajdu-Cheney Syndrome
Aortic valve stenosis, Umbilical hernia, Mitral stenosis, Ventricular septal defect, Hydrocephalu... ORPHA:955
Microphthalmia, Syndromic 2
Aortic valve stenosis, Umbilical hernia, Mitral valve prolapse, Ventricular septal defect, Contra... OMIM:300166
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect OMIM:619123
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Ankle flexion contracture, Intrauterine growth retar... ORPHA:464311
Down Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Atrioventricular canal defe... ORPHA:870
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect ORPHA:261250
X Small Rings
Oligohydramnios, Mitral stenosis, Ventricular septal defect, Bicuspid aortic valve, Fetal pyelect... ORPHA:96201
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:617159
Marfan Syndrome
Aortic regurgitation, Skeletal muscle atrophy, Congestive heart failure, Mitral regurgitation, Mi... ORPHA:558
Thakker-Donnai Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventricula... ORPHA:1780
Opitz Gbbb Syndrome
Ventricular septal defect, Umbilical hernia OMIM:300000
Opitz Gbbb Syndrome
Umbilical hernia, Abnormal heart morphology, Congenital diaphragmatic hernia, Patent foramen oval... ORPHA:2745
X-Linked Intellectual Disability, Nascimento Type
Tetralogy of Fallot, Oligohydramnios, Mitral stenosis, Patent foramen ovale, Ventricular septal d... ORPHA:163956
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Umbilical hernia, Bundle branch block, Camptodactyly of finger, Polyhydramnios, C... ORPHA:373
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Patent ductus arteriosus,... OMIM:277600
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Patent foramen ova... OMIM:301043
Jacobsen Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Ventricular septal defect, Atrial septal... OMIM:147791
3Q29 Microduplication Syndrome
Camptodactyly of toe, Aniridia, Iris coloboma, Ventricular septal defect ORPHA:251038
Ritscher-Schinzel Syndrome 2
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Camptodactyly, Patent d... OMIM:300963
Hajdu-Cheney Syndrome
Umbilical hernia, Ventricular septal defect, Hydrocephalus, Iris coloboma, Patent ductus arteriosus OMIM:102500
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Heart murmur, Intracranial hemorr... ORPHA:163979
Curry-Jones Syndrome
Iris coloboma, Occipital meningocele, Lipomyelomeningocele OMIM:601707
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Chorioretinal coloboma, Umbilical hernia, Tetralogy of Fallot, Ret... OMIM:280000
Loeys-Dietz Syndrome 5
Decreased muscle mass, Mitral regurgitation, Patent foramen ovale, Ventricular septal defect, Atr... OMIM:615582
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Abnormal fetal nasal bone visualization, Comp... OMIM:190685
Diets-Jongmans Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Breech presentation... OMIM:618846
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Branchial cyst, Retinal coloboma, Abnormal heart morphology, Atriove... ORPHA:508488
Diamond-Blackfan Anemia 1
Congestive heart failure, Intrauterine growth retardation, Ventricular septal defect, Small thena... OMIM:105650
Distal Duplication 5Q
Chorioretinal coloboma, Dextrocardia, Ventricular septal defect ORPHA:96097
Holoprosencephaly 14
Alobar holoprosencephaly, Ventricular septal defect, Double outlet right ventricle, Aortic valve ... OMIM:619895
Velocardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Umbilical hernia OMIM:192430
Ulnar-Mammary Syndrome
Arrhythmia, Aplasia of the pectoralis major muscle, Camptodactyly of finger, Ventricular septal d... ORPHA:3138
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Mitral valve prolapse, Ventricular septal defect, Patent foramen ovale, P... OMIM:180849
Semilobar Holoprosencephaly
Cyclopia, Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Flexion cont... ORPHA:220386
Alobar Holoprosencephaly
Cyclopia, Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Flexion cont... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Flexion cont... ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Abnormal heart morphology, Hydrocephalus, Abnormal heart rate variability, Flexion cont... ORPHA:93924
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Intrauterine growth retardation, Oligohydramnios, Conge... OMIM:611812
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect OMIM:613001
Renal Agenesis
Oligohydramnios, Hypertension, Ventricular septal defect ORPHA:411709
Femoral-Facial Syndrome
Camptodactyly of finger, Encephalocele, Truncus arteriosus, Ventricular septal defect, Spina bifi... OMIM:134780
Syndromic Diarrhea
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retarda... ORPHA:84064
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:352665
Brain-Lung-Thyroid Syndrome
Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal d... ORPHA:209905
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Spina bifida, Torticollis, Unilateral facial palsy, Patent ductus ... OMIM:619480
Hardikar Syndrome
Premature rupture of membranes, Umbilical hernia, Portal hypertension, Patent foramen ovale, Vent... OMIM:301068
Van Esch-O'Driscoll Syndrome
Intrauterine growth retardation, Ventricular septal defect, Pulmonary valve atresia, Atrial septa... OMIM:301030
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni... OMIM:617205
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Camptodactyly, Hypoplas... OMIM:616894
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... OMIM:607721
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele ORPHA:397715
Neurofibromatosis, Type I
Hydrocephalus, Spina bifida, Aqueductal stenosis, Rhabdomyosarcoma, Hypertension OMIM:162200
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Intrauterine growth retardation, Oligohydramnios, Mu... ORPHA:464306
Coffin-Siris Syndrome 4
Mitral atresia, Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect,... OMIM:614609
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Caesarian section, Hydrocephalus, Ventricular septal defect OMIM:619575
Costello Syndrome
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrhythmia, Atrial... OMIM:218040
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Abnormal right ventricle morphology, Retinal coloboma, Mitral valve prolapse, Ventr... ORPHA:500095
Robinow Syndrome
Umbilical hernia, Abnormal heart morphology, Ventricular septal defect, Pulmonary valve atresia, ... ORPHA:97360
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect, Limb h... ORPHA:444072
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ... OMIM:620024
Pmm2-Cdg
Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint contractures, Angina pectoris, ... ORPHA:79318
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventri... OMIM:614294
Rabson-Mendenhall Syndrome
Cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect,... ORPHA:769
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Ventricu... OMIM:178110
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2461
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Umbilical hernia, Abnormal pulmonary valve morpholo... ORPHA:1507
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Occipital meningocele OMIM:277170
Degcags Syndrome
Premature birth, Echogenic fetal bowel, Intrauterine growth retardation, Patent foramen ovale, Ve... OMIM:619488
Phocomelia, Schinzel Type
Intrauterine growth retardation, Hydrops fetalis, Meningocele ORPHA:2879
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Ventric... OMIM:613309
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Congestive heart failure OMIM:123700
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Digital constriction ring, Meningocele, Flexion contracture of finger ORPHA:1010
Liver Disease, Severe Congenital
Umbilical hernia, Ascites, Dilatation of the ventricular cavity, Intrauterine growth retardation,... OMIM:619991
Meier-Gorlin Syndrome 7
Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ... OMIM:617063
Arima Syndrome
Hypertension, Occipital meningocele, Chorioretinal coloboma OMIM:243910
Smith-Lemli-Opitz Syndrome
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Decreased fetal movement, Ventricul... OMIM:270400
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Larsen Syndrome
Spina bifida occulta, Intrauterine growth retardation, Atrial septal defect, Ventricular septal d... OMIM:150250
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Intrauterine growth retar... ORPHA:2209
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:610338
Hydrolethalus Syndrome 1
Intrauterine growth retardation, Complete atrioventricular canal defect, Ventricular septal defec... OMIM:236680
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Williams Syndrome
Mitral regurgitation, Myopathy, Ventricular septal defect, Mitral valve prolapse, Bicuspid aortic... ORPHA:904
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Charge Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Retinal coloboma, Polyhydra... OMIM:214800
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Shoulder flexion contracture, Tetralogy of Fallot, Elbow flexion contracture, Intrauterine growth... OMIM:210710
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary window, Pulmonary arterial hypertension, Polyhydramnios... OMIM:620025
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Umbilical hernia, Diastasis recti, Conge... OMIM:312870
Catel-Manzke Syndrome
Umbilical hernia, Intrauterine growth retardation, Ventricular septal defect, Overriding aorta, D... OMIM:616145
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Camptodactyly of finger, Tr... OMIM:143095
Campomelic Dysplasia
Spinal dysraphism, Abnormal heart morphology, Contracture of the distal interphalangeal joint of ... OMIM:114290
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... ORPHA:466791
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Optic disc coloboma, Retinal coloboma, Ventricular septal defect, Atrial... OMIM:615948
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Abnormal heart valve morphology, Intrauterine growth retardation, ... ORPHA:289
Thauvin-Robinet-Faivre Syndrome
Retinal coloboma, Mitral valve prolapse, Ventricular septal defect, Coloboma, Macroglossia, Pedal... OMIM:617107
Holoprosencephaly 7
Iris coloboma, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosence... OMIM:610828
Feingold Syndrome 1
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Tricuspid stenosis, Patent d... OMIM:164280
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Hydrops fetalis, Atrial septal defect, Ventricular septal defect OMIM:263520
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Abnormal heart morphology, Intrauterine growth retar... ORPHA:268261
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Zttk Syndrome
Aortic regurgitation, Intrauterine growth retardation, Ventricular septal defect, Breech presenta... OMIM:617140
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Ventricular sep... ORPHA:353281
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat... ORPHA:2473
Craniofacioskeletal Syndrome
Intrauterine growth retardation, Atrial septal defect, Patent ductus arteriosus, Ventricular sept... OMIM:300712
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Polyhydramnios, Ventricular septal defect OMIM:615503
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Hydrocephalus, A... OMIM:154400
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Increased nuchal translucency, Ventricular septal defect, Ca... ORPHA:3472
Esophageal Atresia
Tetralogy of Fallot, Absence of stomach bubble on fetal sonography, Ventricular septal defect, Co... ORPHA:1199
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Abnormal heart morphology, Patent foramen ovale, Ventricular septal def... ORPHA:444077
Coffin-Siris Syndrome
Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular sept... ORPHA:1465
Aicardi Syndrome
Spina bifida, Optic disc coloboma OMIM:304050
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, 5-minute APGAR score of 3, Oligohydramnios, Ventricular se... ORPHA:141127
Omodysplasia 1
Ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:258315
Peters-Plus Syndrome
Umbilical hernia, Retinal coloboma, Intrauterine growth retardation, Diastasis recti, Ventricular... OMIM:261540
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Umbilical hernia ORPHA:1934
Microphthalmia, Syndromic 3
Coloboma, Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Abnormal heart morphology, Intrauterine growth retardation, Cardiac conduc... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Abnormal heart morphology, Intrauterine growth retardation, Cardiac conduc... ORPHA:353277
Proboscis Lateralis
Chorioretinal coloboma, Optic disc coloboma, Ventricular septal defect, Cyclopia, Holoprosencepha... ORPHA:141099
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Congenital diaphragmatic hernia, Mitral regurgitation, Dyspla... OMIM:157800
Viss Syndrome
Coronary sinus enlargement, Umbilical hernia, Fetal distress, Right ventricular hypertrophy, Mitr... OMIM:619472
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Optic disc coloboma, Camptodactyly of finger, Tetralogy of Fallot, Patent... OMIM:607872
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Ventricular septal defect, Hypoplastic left heart, Mitral atresia, Foot dorsifle... OMIM:619503
Roberts-Sc Phocomelia Syndrome
Ankle flexion contracture, Stillbirth, Elbow flexion contracture, Polyhydramnios, Knee flexion co... OMIM:268300
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele OMIM:267750
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hypertrophic cardiomyopathy, Abnormal heart morphology, Mitral regurgitation, Mitral valve prolap... ORPHA:363700
Phace Association
Patent ductus arteriosus, Ventricular septal defect OMIM:606519
Otopalatodigital Syndrome, Type Ii
Stillbirth, Elbow contracture, Umbilical hernia, Hydrocephalus, Atrial septal defect, Spina bifida OMIM:304120
Coffin-Siris Syndrome 1
Umbilical hernia, Tetralogy of Fallot, Intrauterine growth retardation, Congenital diaphragmatic ... OMIM:135900
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Atrioventricular canal defect, Ventricular septal defect, Atrial septal ... ORPHA:3047
Combined Immunodeficiency-Enteropathy Spectrum
Polyhydramnios, Intrauterine growth retardation, Congenital pulmonary airway malformation, Ventri... ORPHA:436252
Noonan Syndrome 1
Chylothorax, Lymphedema, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal de... OMIM:163950
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Umbilical hernia, Coronary artery stenosis, Intrauterine gr... OMIM:194050
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Patent ductus arteriosus, Cephalohematoma, Atrial septal defect, Ventricular septal defect OMIM:620558
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Oligohydram... ORPHA:2729
Renpenning Syndrome 1
Joint contracture of the hand, Tetralogy of Fallot, Situs inversus totalis, Ventricular septal de... OMIM:309500
Townes-Brocks Syndrome 1
Chorioretinal coloboma, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Atrial ... OMIM:107480
Mosaic Trisomy 20
Dysplastic tricuspid valve, Intrauterine growth retardation, Abnormal mitral valve morphology, Ve... ORPHA:1724
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Cerebrocostomandibular Syndrome
Elbow flexion contracture, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Paten... OMIM:117650
Pallister-Hall Syndrome
Umbilical hernia, Atrioventricular canal defect, Intrauterine growth retardation, Oligohydramnios... ORPHA:672
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:600460
Mowat-Wilson Syndrome
Chorioretinal coloboma, Abnormal heart morphology, Ventricular septal defect, Atrial septal defec... OMIM:235730
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Intrauterine growth retardation, Partial atrioventricular canal defect... OMIM:616462
Exstrophy-Epispadias Complex
Abnormal heart morphology, Hydrocephalus, Spina bifida ORPHA:322
Digeorge Syndrome
Umbilical hernia, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Patent duct... OMIM:188400
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect OMIM:618748
Holoprosencephaly 9
Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus OMIM:610829
Pallister-Killian Syndrome
Aortic valve stenosis, Premature rupture of membranes, Camptodactyly of 2nd-5th fingers, Umbilica... OMIM:601803
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect OMIM:181450
Keutel Syndrome
Hypertension, Pulmonic stenosis, Ventricular septal defect OMIM:245150
Orofaciodigital Syndrome Type 14
Retinal coloboma, Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Sotos Syndrome
Ankle flexion contracture, Umbilical hernia, Abnormal heart morphology, Hip contracture, Ventricu... ORPHA:821
Johanson-Blizzard Syndrome
Generalized edema, Dilated cardiomyopathy, Anasarca, Ascites, Intrauterine growth retardation, Po... OMIM:243800
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Intrauterine growth retardation, Patent foramen ovale, Ventr... OMIM:216340
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly... OMIM:164210
Penile Agenesis
Oligohydramnios, Fetal pyelectasis, Atrial septal defect, Ventricular septal defect ORPHA:49
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Elbow flexion contracture, Occipital meningocele OMIM:276820
Coffin-Siris Syndrome 2
Abnormal heart morphology, Macroglossia, Intrauterine growth retardation 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter