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Gene: Arid1a MGI:1935147

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
AT rich interactive domain 1A (SWI-like)
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
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Intrauterine growth retarda... ORPHA:1465
Coffin-Siris Syndrome 2
Macroglossia, Intrauterine growth retardation, Abnormal heart morphology OMIM:614607

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Atrial Standstill
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... ORPHA:1344
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... OMIM:601493
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Intrauterine growth retardation, Patent ductus... OMIM:616276
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... OMIM:612158
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Abnormal placenta morphology, Intrauterine growt... ORPHA:439167
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Ventricular hypertrophy, Transient is... OMIM:115197
Pyknoachondrogenesis
Stillbirth OMIM:265880
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Perimembranous ve... OMIM:618782
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Capillary leak, Abnormal heart morphology,... ORPHA:1041
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Facial palsy, Restrictive cardiomyopathy, Dilated cardiomyopathy, H... OMIM:601419
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability OMIM:614896
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Sudden ... ORPHA:300751
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Left ventricular noncompaction, Syncope, Ventricular bige... OMIM:616249
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... OMIM:613642
Combined Oxidative Phosphorylation Deficiency 10
Intrauterine growth retardation, Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopat... OMIM:614702
Chronic Atrial And Intestinal Dysrhythmia
Mitral regurgitation, Pulmonic stenosis, Left atrial enlargement, Sick sinus syndrome, Bicuspid a... OMIM:616201
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... OMIM:615396
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Anasarca, Cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Hypote... OMIM:261740
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Br... OMIM:618815
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Intrauterine growth retardation, Ventricular hypertrophy, Congestiv... OMIM:619048
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tricuspid ... OMIM:614022
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Bradycardia, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:616277
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... OMIM:163800
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, Tetralogy of... OMIM:601005
Sudden Cardiac Failure, Infantile
Myocarditis, Myocardial fibrosis, Sudden cardiac death, Congestive heart failure, Hypertrophic ca... OMIM:617222
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Ventricular septa... ORPHA:216694
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia, Neonatal death OMIM:257100
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia, Patent foramen ovale OMIM:617182
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation, Atrial septal defect OMIM:613087
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Idiopathic Congenital Hypothyroidism
Bradycardia, Umbilical hernia, Macroglossia, Facial edema ORPHA:95717
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia OMIM:611938
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Chylopericardium, Tricuspid ... ORPHA:2414
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Anhydramnios OMIM:613885
Cantu Syndrome
Umbilical hernia, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial ef... OMIM:239850
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle... OMIM:614302
Cardiomyopathy, Dilated, 2G
Increased Z-disc width, Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemor... OMIM:619897
Craniofaciofrontodigital Syndrome
Macroglossia, Pulmonary arterial hypertension, Mitral regurgitation, Edema, Ventricular septal de... ORPHA:363705
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Ventricular septal defect, Umbilical hernia, Polyhydramnios, Abnormal heart morp... ORPHA:254534
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Decreased level of coenzyme Q10 in skeletal muscle, Intrauterine growth retardation,... OMIM:614654
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia, Decreased fetal movement ORPHA:2898
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Intrauterine growth retardation, Pericardial effusion, Persistent feta... OMIM:618775
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... ORPHA:45453
Aminoacylase 1 Deficiency
Bradycardia, Breech presentation OMIM:609924
Wild Type Attr Amyloidosis
Abnormal EKG, Arrhythmia, Myocardial infarction, Pulmonary edema, Congestive heart failure, Ortho... ORPHA:330001
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Ventricular tachycardia, Tachycardia, Ventricular septal defect,... ORPHA:26793
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta, Intrauterine growth retardation, Severe intrauterine growth retardation ORPHA:73272
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... OMIM:618773
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Intrauterine growth retardation, Oligohydramnios ORPHA:397590
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Hypotension, Cardiomyopathy, Ventricular... OMIM:212138
Naxos Disease
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... OMIM:601214
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Mitral regurgitation, ... ORPHA:66529
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Atrial Standstill 2
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... OMIM:615745
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Neonatal death OMIM:273680
Familial Thyroid Dyshormonogenesis
Bradycardia, Umbilical hernia, Macroglossia, Facial edema ORPHA:95716
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Int... ORPHA:555874
Congenital Enterovirus Infection
Myocarditis, Decreased fetal movement, Pleural effusion, Hypotension, Hydrops fetalis, Polyhydram... ORPHA:292
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... OMIM:616501
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Congenital Disorder Of Glycosylation, Type Il
Decreased fetal movement, Edema, Pericardial effusion, Abnormal cardiac septum morphology, Ascites OMIM:608776
Fixed Subaortic Stenosis
Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At... ORPHA:3092
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Pleural effusion, Cerebral hemorrhage, Patent ductus arteriosus, B... OMIM:617397
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Patent foramen ovale, Bradycardia, Ventri... ORPHA:542306
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... OMIM:617228
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, EMG: myopathic abnormalities, Bradycardia, Ragged-red muscle fibers, ... OMIM:609286
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Dilated cardiomyopathy, H... OMIM:252011
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Umbilical hernia, Macroglossia ORPHA:226313
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Hypotension, Pulmonary edema, Premature birth, Bradycardia, Tachycardia ORPHA:70587
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Cardiomyopathy, Oligohydramnios... ORPHA:1909
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
Coronary Arterial Fistula
Atrial septal defect, Bacterial endocarditis, Abnormal heart morphology, Angina pectoris, Patent ... ORPHA:2041
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Cln3 Disease
Bradycardia, T-wave inversion, Left ventricular hypertrophy ORPHA:228346
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Proximal amyotrophy, Spinal muscular atrophy, Decreased ... OMIM:253300
Nemaline Myopathy 9
Fetal akinesia sequence, Breech presentation, Ventricular septal defect, Polyhydramnios, Nemaline... OMIM:615731
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Camptodactyly of finger, Intrauterine growth retardation, Ven... ORPHA:1937
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Camptodactyly of finger, Nonimmune hydrops fetalis, Fetal akinesia sequence... OMIM:208150
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic dia... OMIM:612124
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Left ventricular hypertrophy, Palpitation... OMIM:608758
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:614429
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension OMIM:616299
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... OMIM:617300
Neu-Laxova Syndrome 1
Short umbilical cord, Camptodactyly, Fetal akinesia sequence, Decreased fetal movement, Hydranenc... OMIM:256520
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Decreased fetal movement, Limb hypertonia, Atrial septal defect, Polyhydramnios, Pericardial effu... OMIM:620070
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Anencephaly, Hypoplastic left heart, Spina bifida ORPHA:2476
Congenital Heart Defects, Multiple Types, 4
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Left ventricular outflow ... OMIM:615779
Congenital Heart Defects, Multiple Types, 5
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Doub... OMIM:617912
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Atrial septal defect, Le... OMIM:612098
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial septal defect, B... OMIM:618719
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Small thenar eminence, Spina bifida, Small hypothenar eminence, Mitral valve prola... OMIM:211960
Romano-Ward Syndrome
Prolonged QTc interval, Abnormal T-wave, Abnormality of prenatal development or birth, Torsade de... ORPHA:101016
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Ventricular septal defect, Left ventricular outflow tract obstruction, Subva... OMIM:614980
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... OMIM:613838
Atrial Septal Defect 2
Dextrocardia, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Ventricular septal d... OMIM:607941
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, ... OMIM:614954
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Nonimmune hydrops fetalis, Camptodactyly, Atrial septal defect, Ventricular septal defect, Umbili... OMIM:235510
Congenital Gerbode Defect
Elevated right atrial pressure, Pulmonary arterial hypertension, Systolic heart murmur, Pulmonic ... ORPHA:99095
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis, Pericardial effusion ORPHA:231111
Long Qt Syndrome 9
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... OMIM:611818
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus ar... OMIM:249670
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial effu... OMIM:619313
Cardiac-Urogenital Syndrome
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Hypoplastic left heart, Atrial septal defec... OMIM:618280
Necrotizing Enterocolitis
Hypotension, Edema, Abnormal heart morphology, Shock, Premature birth, Bradycardia, Ascites ORPHA:391673
Acitretin/Etretinate Embryopathy
Conotruncal defect, Atrioventricular canal defect, Premature birth, Bradycardia, Third degree atr... ORPHA:40366
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Pedal edema, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... OMIM:604400
Cardiac Diverticulum
Abnormality of the diaphragm, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallo... ORPHA:1686
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Angioedema, Abnormal heart valve morphology, Pericardial effusion, Pleur... ORPHA:36412
Glutamine Deficiency, Congenital
Bradycardia, Flexion contracture, Camptodactyly, Neonatal death OMIM:610015
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormality of blood circulation, Abnormal ventriculoarteria... ORPHA:860
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block, Joint contracture of the 5th finger OMIM:614407
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Muscular dystrophy, Skeletal muscle ... OMIM:616812
Short Qt Syndrome 2
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... OMIM:609621
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Cardiomyocyte hypertrophy, Shoulder girdle muscle ... ORPHA:263297
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Aicardi-Goutieres Syndrome 9
Edema, Left ventricular hypertrophy, Hypertension, Intrauterine growth retardation, Portal hypert... OMIM:619487
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cardiomyopathy, Skeletal muscle atrophy, Pericardial effusion OMIM:620089
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... ORPHA:563
Long Qt Syndrome 5
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... OMIM:613695
Atrial Septal Defect, Sinus Venosus Type
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... ORPHA:99105
Developmental And Epileptic Encephalopathy 101
Bradycardia, Third degree atrioventricular block, Limb joint contracture OMIM:619814
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Proximal Spinal Muscular Atrophy
Decreased fetal movement, Facial diplegia, Distal lower limb muscle weakness, Atrial septal defec... ORPHA:70
Progressive Familial Heart Block, Type Ii
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... OMIM:140400
Long Qt Syndrome 8
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... OMIM:618447
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pedal edema, Elevated pulmonary artery pressure, Pulmonary edema, Pe... ORPHA:199241
Restrictive Dermopathy
Short umbilical cord, Camptodactyly of finger, Dextrocardia, Decreased fetal movement, Premature ... ORPHA:1662
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Joint contracture, Limb hypertonia OMIM:614498
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... OMIM:619464
Intellectual Developmental Disorder, Autosomal Recessive 73
Decreased fetal movement, Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... OMIM:612240
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Breech presentation, Ventricular septal defect, Hypertension, Intrauterine growth retardation, Br... OMIM:614653
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Supravalvular ... ORPHA:439232
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Mitral regurgitation, Left ventricular hypertrophy, Left v... OMIM:619167
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Anasarca, Polyhydramnios, Pericardial effusion, Ascites, Pleural effusion, Coloboma OMIM:618183
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus, Hydranencephaly OMIM:601355
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrial septal defect, Spina bifida, Atrioventricular canal defect, Tricuspid regurgitation, Bicus... ORPHA:1120
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Umbilical hernia, Macroglossia, Edema ORPHA:90673
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Edema, Pericardial effusion, Pleural effusion, Myositis, Ascites ORPHA:93552
Acute Interstitial Pneumonia
Pleural effusion, Peripheral edema, Hypertension, Pericardial effusion ORPHA:79126
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation OMIM:600919
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Alkuraya-Kucinskas Syndrome
Camptodactyly, Pleural effusion, Edema, Hydrocephalus, Pericardial effusion, Arthrogryposis multi... OMIM:617822
Ritscher-Schinzel Syndrome 1
Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Hydrocephalus, Atrial septa... OMIM:220210
Mosaic Trisomy 16
Atrial septal defect, Ventricular septal defect, Intrauterine growth retardation, Abnormal heart ... ORPHA:1708
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation, Hydrocephalus ORPHA:83473
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Diastasis recti, Camptodactyly, Umbilical hernia, Polyhydramnios, Intrauterine grow... ORPHA:254528
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Sick Sinus Syndrome 1
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... OMIM:608567
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Ventricular septal defect, Atrial septal defect, Congestive heart failure, Paroxy... ORPHA:49827
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Gaucher Disease Type 1
Pulmonary arterial hypertension, Abnormal myocardium morphology, Pericardial effusion, Pedal edem... ORPHA:77259
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Congenital Disorder Of Glycosylation, Type Ia
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema, Cardiomyopathy, Pericardial ... OMIM:212065
Crimean-Congo Hemorrhagic Fever
Myocarditis, Bundle branch block, Bradycardia, Epistaxis, Pulmonary arterial hypertension, Diffus... ORPHA:99827
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Atrial septal defect, Tricuspid regurgitation, Patent foramen ovale, P... OMIM:618652
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Fibrofatty replacem... OMIM:609040
Illum Syndrome
Bradycardia, Arthrogryposis multiplex congenita, Calcinosis OMIM:208155
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Situs inversus totalis, Spinal dysraphism, Hydrocephalus, Meningocele, Ventricular... ORPHA:1908
Mitochondrial Complex I Deficiency, Nuclear Type 37
Bradycardia, Pulmonary arterial hypertension, Skeletal muscle atrophy OMIM:619272
Long Qt Syndrome 3
Prolonged QTc interval, Nonimmune hydrops fetalis, Ventricular tachycardia, Hydrops fetalis, Tors... OMIM:603830
Lipodystrophy, Congenital Generalized, Type 4
Tachycardia, Muscular dystrophy, Skeletal muscle hypertrophy, Centrally nucleated skeletal muscle... OMIM:613327
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect, Hypertension, Interphalangeal thumb joint contra... OMIM:613870
Tetanus
Bradycardia, Hypertension, Tachycardia ORPHA:3299
Grange Syndrome
Patent ductus arteriosus, Hypertension, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Meningocele, Hydrocephalus, Atrial septal defect, Intra... OMIM:611134
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Camptodactyly of finger, Dextrocardia ORPHA:1759
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... OMIM:610193
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect, Intracranial hemorrhage, Hy... OMIM:614424
Trichohepatoenteric Syndrome 1
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Intrauterine g... OMIM:222470
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hypertrophi... OMIM:613873
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Ventricular septal defect, Hypertensi... OMIM:617021
Catel-Manzke Syndrome
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect ORPHA:1388
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Coloboma, Anterior encephalocele, Ventricular septal defect OMIM:601357
Poems Syndrome
Pulmonary arterial hypertension, Edema, Pericardial effusion, Pleural effusion, Ascites ORPHA:2905
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Hydrops fetalis, Overriding aorta, Atrial flutte... OMIM:601927
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Hydrocephalus, Umbilical hernia, Intrauterine growth retardation, Pate... OMIM:612938
Alg9-Cdg
Torticollis, Decreased fetal movement, Ventricular septal defect, Atrial septal defect, Hydrops f... ORPHA:79328
Noonan Syndrome 8
Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Left ve... OMIM:615355
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia, Intrauterine growth retardation, Congenital foot contractures, Limb hypertonia ORPHA:565624
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Vent... ORPHA:1354
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Pleural effusion, Generalized edema, Ascites ORPHA:90362
Q Fever
Myocarditis, Vasculitis, Endocarditis, Abnormal heart valve morphology, Abnormal left ventricular... ORPHA:781
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Congenital muscular torticollis, Spina bifida ORPHA:2345
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Umbilical hernia, Macroglossia, Facial edema ORPHA:90674
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Subconjunctival hemorrhage, Pericardial effusion, Pleural effusion, Epistaxis ORPHA:464329
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Ventricular septal defect, Umbilical hernia, Single umbilical artery, Bicus... ORPHA:329224
Noonan Syndrome 12
Polyhydramnios, Supravalvular aortic stenosis, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
D-Glyceric Aciduria
Bradycardia, Patent ductus arteriosus OMIM:220120
Lujo Hemorrhagic Fever
Myocarditis, Hypotension, Periorbital edema, Facial edema, Cerebral edema, Subconjunctival hemorr... ORPHA:319213
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Left ventricular h... OMIM:108900
Complete Atrioventricular Septal Defect
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Abnorma... ORPHA:1329
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Right ventricular failure, Atrial septal defect, Right-to-left shunt, Card... ORPHA:439
Lethal Congenital Contracture Syndrome 2
Decreased fetal movement, Edema, Ventricular septal defect, Polyhydramnios, Skeletal muscle atrop... OMIM:607598
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Humero-Radial Synostosis
Meningocele, Chorioretinal coloboma, Iris coloboma ORPHA:3265
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Dilated cardiomyopathy OMIM:610768
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Arrhythmia, Cardiomyopathy OMIM:249270
Aortic Arch Interruption
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... ORPHA:2299
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Edema, Limb hypertonia, Hypertension, Intrauterine growth retardation, ... OMIM:615846
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Joubert Syndrome 18
Camptodactyly, Ventricular septal defect, Occipital encephalocele, Intrauterine growth retardatio... OMIM:614815
Donnai-Barrow Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Iris coloboma, Ventricular septal defect ORPHA:2143
Sepsis In Premature Infants
Hypotension, Edema, Caesarian section, Premature birth, Bradycardia, Tachycardia ORPHA:90051
Juvenile Idiopathic Arthritis
Pericardial effusion, Joint swelling ORPHA:92
Triploidy
Macroglossia, Iris coloboma, Hydrocephalus, Meningocele, Polyhydramnios, Holoprosencephaly, Intra... ORPHA:3376
Gaucher Disease Type 3
Pulmonary arterial hypertension, Hydrops fetalis, Abnormal heart valve morphology, Mitral valve c... ORPHA:77261
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Bardet-Biedl Syndrome 19
Atrial septal defect, Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect OMIM:615996
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Congenital diaphragmatic hernia, Premature birth ORPHA:63862
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Decreased fetal movement, Increased variability in muscle fiber diameter, Ventricular s... OMIM:616816
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Tatton-Brown-Rahman Syndrome
Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Tricuspi... OMIM:615879
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Arthrogryposis... OMIM:614262
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Umbilical hernia, Intrauterine growth retardation, Bicuspid aortic val... OMIM:617751
Classical-Like Ehlers-Danlos Syndrome Type 2
Umbilical hernia, Mitral valve prolapse, Pericardial effusion ORPHA:536532
Tricuspid Atresia
Hypoplasia of right ventricle, Ventricular septal defect, Atrial septal defect, Patent foramen ov... ORPHA:1209
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pulmonary edema, Congestive heart failure, Pericardial effusion, Dilated ca... ORPHA:73224
Verheij Syndrome
Ventricular septal defect, Intrauterine growth retardation, Branchial cyst, Truncus arteriosus, C... OMIM:615583
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
Bilateral wrist flexion contracture, Cardiomegaly, Intrauterine growth retardation, Lower limb hy... ORPHA:97297
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Umbilical hernia, Abnormal heart morphology, Bicuspid aortic valve, Pa... ORPHA:500159
Gitelman Syndrome
Raynaud phenomenon, Rhabdomyolysis, Abnormal T-wave, Syncope, Palpitations, Low-to-normal blood p... ORPHA:358
Aymé-Gripp Syndrome
Camptodactyly, Hydrocephalus, Pericardial effusion, Patent ductus arteriosus, Congenital diaphrag... ORPHA:1272
Myhre Syndrome
Camptodactyly, Atrial septal defect, Ventricular septal defect, Hypertension, Intrauterine growth... OMIM:139210
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Hypoplastic left heart, Ventricular septal defect, Atrial septal ... ORPHA:392
Xk Aprosencephaly Syndrome
Atrial septal defect, Polyhydramnios, Ventricular septal defect ORPHA:3469
Neuroleptic Malignant Syndrome
Rhabdomyolysis, Dehydration, Hypotension, Arrhythmia, Hypertension, Pulmonary embolism, Bradycard... ORPHA:94093
Laubry-Pezzi Syndrome
Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Ventricular se... ORPHA:99094
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Spina bifida, Arrhythmia, Lymphedema, Rhabdomyosarcoma, Coloboma ORPHA:2874
Recombinant Chromosome 8 Syndrome
Camptodactyly, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal d... OMIM:179613
Diabetic Embryopathy
Spinal dysraphism, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defec... ORPHA:1926
Emanuel Syndrome
Torticollis, Decreased fetal movement, Pulmonic stenosis, Ventricular septal defect, Atrial septa... OMIM:609029
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Pulmonic stenosis, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertrophy,... ORPHA:284169
Limb Body Wall Complex
Encephalocele, Short umbilical cord, Diastasis recti, Amniotic constriction ring, Iris coloboma, ... ORPHA:2369
Meckel Syndrome, Type 1
Camptodactyly of finger, Breech presentation, Iris coloboma, Hydrocephalus, Occipital encephaloce... OMIM:249000
Eisenmenger Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Bacterial endocarditis, Atr... ORPHA:97214
Subependymal Nodular Heterotopia
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele ORPHA:101030
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Congenital diaphragmatic hernia, Neonatal death, Ventricular septal defect OMIM:615524
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Glossopharyngeal Neuralgia
Bradycardia, Jaw claudication, Syncope ORPHA:221098
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect ORPHA:398156
Diamond-Blackfan Anemia 6
Mitral regurgitation, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Ventr... OMIM:612561
Chromosome 5Q12 Deletion Syndrome
Macroglossia, Increased nuchal translucency, Hypotension, Atrial septal defect, Ventricular septa... OMIM:615668
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Limb muscle weakness OMIM:207950
Kagami-Ogata Syndrome
Polyhydramnios, Diastasis recti, Large placenta, Premature birth ORPHA:254519
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrophic cardiomyopathy ORPHA:255241
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage, Chorioretinal coloboma ORPHA:2481
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:619189
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Single umbilical artery, Intrauterine growth retardation, Hypoplastic left heart, Ventricular sep... ORPHA:2772
Muscle-Eye-Brain Disease
Meningocele, Myopathy, Holoprosencephaly, Hydrocephalus ORPHA:588
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Ventricular septal defect, Hydrops fetalis, Polyhydramnios, Intrauterine growth... OMIM:616897
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:619769
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Hip con... OMIM:616651
Tsh-Secreting Pituitary Adenoma
Hypotension, Palpitations, Hypertension, Supraventricular arrhythmia, Congestive heart failure, P... ORPHA:91347
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Restrictive Dermopathy 1
Premature rupture of membranes, Short umbilical cord, Decreased fetal movement, Atrial septal def... OMIM:275210
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
3C Syndrome
Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Hydrocephalus, Atrial septa... ORPHA:7
Wildervanck Syndrome
Meningocele, Facial palsy ORPHA:3456
Cat Eye Syndrome
Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Umbil... OMIM:115470
Encephalitis Lethargica
Bradycardia, Upper limb muscle weakness ORPHA:83600
Czeizel-Losonci Syndrome
Dextrocardia, Aplasia of the left hemidiaphragm, Myelomeningocele, Hydrocephalus, Spina bifida, T... ORPHA:2437
Chromosome 6Pter-P24 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Umbilical hernia, Hydrocephalus, Tetralogy of Fa... OMIM:612582
Ventricular Septal Defect 3
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:615279
Tyshchenko Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Polyhydramnios, Intrauterine ... OMIM:615102
Chédiak-Higashi Syndrome
Pleural effusion, Epistaxis, Pericardial effusion, Edema ORPHA:167
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Umbilical hernia, Macroglossia OMIM:218700
Scimitar Syndrome
Pulmonary arterial hypertension, Dextrocardia, Hypoplastic left heart, Atrial septal defect, Hear... ORPHA:185
Greenberg Dysplasia
Nonimmune hydrops fetalis, Increased nuchal translucency, Hydrops fetalis, Polyhydramnios, Neonat... OMIM:215140
Combined Oxidative Phosphorylation Deficiency 39
Arthrogryposis multiplex congenita, Intrauterine growth retardation, Congenital contracture, Sinu... OMIM:618397
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Camptodactyly, Ventricular septal defect, Arthrogryposis-like hand anomaly, Umbilic... ORPHA:369891
Cooper-Jabs Syndrome
Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular septal de... ORPHA:1488
Mosaic Trisomy 9
Camptodactyly of finger, Dextrocardia, Ventricular septal defect, Atrial septal defect, Spina bif... ORPHA:99776
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot,... OMIM:613854
Lymphangioleiomyomatosis
Hydrocephalus, Chylopericardium, Gastrointestinal hemorrhage, Lymphedema, Chylothorax, Ascites ORPHA:538
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Intrauterine growth retardation, Scapular winging, Spina bifida ORPHA:1327
Pelger-Huet Anomaly
Umbilical hernia, Lower limb hypertonia, Foot dorsiflexor weakness, Ventricular septal defect OMIM:169400
Emanuel Syndrome
Breech presentation, Decreased fetal movement, Pulmonic stenosis, Ventricular septal defect, Atri... ORPHA:96170
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Double... ORPHA:3426
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Meningocele, Umbilical hernia, Intrauterine growth retardation, Spina bi... ORPHA:2311
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypertension... ORPHA:369929
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Increased nuchal translucency, Mitral regurgitation, Ventricular s... OMIM:620066
King-Denborough Syndrome
Minicore myopathy, Breech presentation, Decreased fetal movement, Ventricular septal defect, Type... OMIM:619542
Absence Of The Pulmonary Artery
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ej... ORPHA:980
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Macroglossia, Diastasis recti, Spinal dysraphism, Pulmonary arterial hypertension, Camptodactyly,... ORPHA:96334
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect OMIM:612946
Histiocytoid Cardiomyopathy
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Hydrocephalus... ORPHA:137675
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Left ventricular systolic dysfunction, Edema, Hydrops fetalis, P... ORPHA:51608
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Truncus arteriosus, Tricuspid regurgitation OMIM:616589
Hennekam Syndrome
Camptodactyly of finger, Hydrops fetalis, Pericardial effusion, Lymphedema, Chylothorax, Ascites ORPHA:2136
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Atrioventricular canal d... OMIM:306955
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplastic right heart, Intrauterine growth ret... OMIM:618142
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia, Umbilical hernia, Macroglossia, Facial edema ORPHA:226307
Anophthalmia Plus Syndrome
Iris coloboma, Spina bifida ORPHA:1104
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida ORPHA:957
Kagami-Ogata Syndrome
Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Atrial septal defect, Ventri... OMIM:608149
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Marburg Hemorrhagic Fever
Dehydration, Hypotension, Capillary leak, Subconjunctival hemorrhage, Shock, Hypovolemia, Interna... ORPHA:99826
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Carpenter Syndrome 1
Camptodactyly, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Umbilical hern... OMIM:201000
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Tetralogy of Fallo... ORPHA:1335
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia, Iris coloboma, Ventricular septal defect ORPHA:2789
Chromosome 1P36 Deletion Syndrome, Proximal
Camptodactyly, Wolff-Parkinson-White syndrome, Pulmonic stenosis, Atrial septal defect, Ventricul... OMIM:619343
Lateral Meningocele Syndrome
Ventricular septal defect, Meningocele, Umbilical hernia, Hydrocephalus, Decreased muscle mass, B... OMIM:130720
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Single umbilical artery, Premature birth, Ventricular septal defect ORPHA:2256
Heart Defects, Congenital, And Other Congenital Anomalies
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Umbilical hernia, Ventricular septa... OMIM:600001
16P13.11 Microduplication Syndrome
Atrial septal defect, Transposition of the great arteries, Tetralogy of Fallot, Ventricular septa... ORPHA:261243
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Intrauterine growth retardation, Telangiectasia,... OMIM:606003
Focal Dermal Hypoplasia
Diastasis recti, Camptodactyly of finger, Iris coloboma, Spina bifida, Ventricular septal defect,... ORPHA:2092
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Increased nuchal translucency, Ventricular septal defect, Atrial septal defect, Tricuspid regurgi... OMIM:618870
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hydrocephalus OMIM:602501
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morphology, ... ORPHA:3405
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal ... ORPHA:210122
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Subchorionic septal cyst, Umbilical hernia, Polyhydramnios, Premat... ORPHA:116
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Knee flexio... OMIM:603387
Pagod Syndrome
Encephalocele, Situs inversus totalis, Hypoplastic left heart, Spina bifida, Meningocele, Arrhyth... ORPHA:991
Chromosome 18Q Deletion Syndrome
Dysplastic pulmonary valve, Atrial septal defect, Ventricular septal defect, Umbilical hernia, Dy... OMIM:601808
Congenital Rubella Syndrome
Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept... ORPHA:290
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Intrauterine growth retarda... ORPHA:1913
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Pseudotrisomy 13 Syndrome
Encephalocele, Cyclopia, Dextrocardia, Ventricular septal defect, Atrial septal defect, Hydroceph... OMIM:264480
Sheehan Syndrome
Bradycardia, Palpitations, Orthostatic hypotension ORPHA:91355
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Intrauterine growth retardation, Myelomeningo... ORPHA:2876
Contractural Arachnodactyly, Congenital
Camptodactyly, Mitral regurgitation, Distal arthrogryposis, Atrial septal defect, Ventricular sep... OMIM:121050
Lambotte Syndrome
Semilobar holoprosencephaly, Intrauterine growth retardation, Ventricular septal defect OMIM:245552
Filippi Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:272440
Trisomy 13
Iris coloboma, Atrial septal defect, Ventricular septal defect, Hydrops fetalis, Intrauterine gro... ORPHA:3378
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Intrauterine growth retardation, Ventricular septal defect ORPHA:2516
Intellectual Developmental Disorder, Autosomal Dominant 47
Increased nuchal translucency, Single umbilical artery, Intrauterine growth retardation, Ventricu... OMIM:617635
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Intrauterine growth retardation, Anencephaly OMIM:603194
19P13.12 Microdeletion Syndrome
Mitral regurgitation, Atrial septal defect, Ventricular septal defect, Arrhythmia, Intrauterine g... ORPHA:254346
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventricular septal defect ORPHA:1166
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Ventricular septal defect ORPHA:401935
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Ventricular septal defect, Left ventricular hypertrophy, Hyperte... OMIM:615474
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Serkal Syndrome
Congenital diaphragmatic hernia, Oligohydramnios, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Criss-Cross Heart
Pulmonic stenosis, Ventricular septal defect, Supravalvular aortic stenosis, Abnormal mitral valv... ORPHA:1461
Trisomy 18
Cyclopia, Camptodactyly of finger, Iris coloboma, Ventricular septal defect, Atrial septal defect... ORPHA:3380
Atrial Septal Defect 1
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Second degree atr... OMIM:108800
Coffin-Siris Syndrome 7
Ventricular septal defect, Polyhydramnios, Bicuspid aortic valve, Patent foramen ovale, Oligohydr... OMIM:618027
Cardiac Valvular Dysplasia 1
Tricuspid atresia, Mitral regurgitation, Double inlet left ventricle, Pulmonic stenosis, Ventricu... OMIM:212093
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect OMIM:231060
Right Atrial Isomerism
Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Tetralogy of ... OMIM:208530
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Cerebrocostomandibular Syndrome
Myelomeningocele, Meningocele, Hydranencephaly, Ventricular septal defect, Spina bifida, Intraute... ORPHA:1393
Lymphedema-Distichiasis Syndrome
Nonimmune hydrops fetalis, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Predominan... OMIM:153400
Noonan Syndrome 10
Increased nuchal translucency, Mitral regurgitation, Pleural effusion, Pulmonic stenosis, Ventric... OMIM:616564
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Atrial septal defect, Tetralogy of Fallot, Ventricular... ORPHA:2970
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventric... OMIM:618316
Craniorachischisis
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly, Congenital ... ORPHA:63260
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Umbi... ORPHA:2255
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Dextrocardia, Ventricular septal defect OMIM:618067
Periventricular Nodular Heterotopia 7
Ventricular septal defect, Knee flexion contracture, Elbow contracture, Contracture of the proxim... OMIM:617201
Alagille Syndrome
Ventricular septal defect, Atrial septal defect, Hypertension, Intrauterine growth retardation, S... ORPHA:52
Meacham Syndrome
Dextrocardia, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Atrial septal defect, Te... OMIM:608978
Costello Syndrome
Macroglossia, Pulmonic stenosis, Ventricular septal defect, Polyhydramnios, Thickened nuchal skin... ORPHA:3071
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Iris coloboma, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Spi... ORPHA:508498
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Polyhydramnios, Stillbirth, Ventricular septal defect OMIM:263630
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Iris coloboma, Hydranencephaly, Hydrocephalus, Spina bifida, Retinal col... ORPHA:2839
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Donnai-Barrow Syndrome
Iris coloboma, Ventricular septal defect, Umbilical hernia, Congenital diaphragmatic hernia, Diap... OMIM:222448
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Low APGAR score, Intrauterine growth retardation, Ventricular septal defect ORPHA:79243
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Limb hypertonia, Ventricular septal defect, Intrauterine growth re... OMIM:619909
Rere-Related Neurodevelopmental Syndrome
Iris coloboma, Ventricular septal defect, Intrauterine growth retardation, Abnormal heart morphol... ORPHA:494344
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Atrial septal defect, Hydrocephalus, Intrauterine growth retardation, ... OMIM:614576
Fountain Syndrome
Facial edema, Spina bifida occulta, Spina bifida ORPHA:3219
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Increased nuchal translucency, Atrial septal defect, Ventricular septal defect, Abnormal heart mo... OMIM:618494
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular septal defect, L... OMIM:300967
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Iris coloboma, Ventricular septal defect, Atrial septal defect, Hypertension, Double outlet right... ORPHA:371428
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Dehydration, Abnormal placenta morphology, Ventricular septal defect, Umbilical her... ORPHA:96191
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus OMIM:218350
Kapur-Toriello Syndrome
Camptodactyly of finger, Iris coloboma, Atrial septal defect, Ventricular septal defect, Intraute... OMIM:244300
Congenital Disorder Of Glycosylation, Type It
Rhabdomyolysis, Pulmonary arterial hypertension, Ventricular septal defect, Aborted sudden cardia... OMIM:614921
Trisomy 1Q
Increased nuchal translucency, Camptodactyly of finger, Ventricular septal defect, Hydrocephalus,... ORPHA:261344
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Noonan Syndrome 2
Increased nuchal translucency, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect... OMIM:605275
Gm1 Gangliosidosis
Macroglossia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Vent... ORPHA:354
Desbuquois Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... ORPHA:1425
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Patent ductus arteriosus ORPHA:77298
Aortic Valve Disease 1
Ventricular septal defect, Mitral atresia, Tetralogy of Fallot, Bicuspid aortic valve, Double out... OMIM:109730
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Camptodactyly, Atrial septal defect, Ventricular septal defect, Polyhydramnios, Intrauterine grow... OMIM:617360
Cutis Laxa, Autosomal Recessive, Type Ib
Bradycardia, Pulmonary insufficiency, Oligohydramnios, Congenital diaphragmatic hernia OMIM:614437
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Intrauterine growth retardation, Ventricular septal defect ORPHA:447980
Ogden Syndrome
Arrhythmia, Cardiogenic shock, Torticollis, Ventricular septal defect ORPHA:276432
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, In... OMIM:612562
Kapur-Toriello Syndrome
Iris coloboma, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Retinal ... ORPHA:2328
Microphthalmia, Syndromic 9
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Intraute... OMIM:601186
Short-Rib Thoracic Dysplasia 12
Edema, Ventricular septal defect, Hydrocephalus, Polyhydramnios, Holoprosencephaly, Intrauterine ... OMIM:269860
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Macroglossia, Increased nuchal translucency, Atrial septal defect, Ventricular septal defect, Atr... ORPHA:453499
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Patent ductus arteriosus, Neonatal death OMIM:617248
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonic stenosis, Ventricular septal defect, Polyhydramnios, Intrauterine growth retardation, Do... OMIM:301056
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Hypoplastic left heart, Ventricular septal defect, Atrial septal... ORPHA:99050
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Chorioretinal coloboma ORPHA:2031
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Ventricular septal defect, Hydrocephalus, Arrhythmia, Atrial septal defect, Overri... OMIM:309801
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Hydrocephalus, Hydrops fetalis, Polyhydramnios, Anencephaly, Occipital meni... OMIM:616546
Neu-Laxova Syndrome 2
Decreased fetal movement, Edema, Spina bifida, Polyhydramnios, Intrauterine growth retardation OMIM:616038
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Hydromyelia, Lipomyelomeningocele, Occipital meningocele, Neural tube... ORPHA:268810
Noonan Syndrome 4
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Hypertrophic ... OMIM:610733
Chromosome 17P13.1 Deletion Syndrome
Decreased fetal movement, Hydrocephalus, Spina bifida, Umbilical hernia, Knee flexion contracture... OMIM:613776
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Tric... OMIM:617478
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Dehydration, Edema, Dilated cardiomyopathy ORPHA:79404
Iniencephaly
Encephalocele, Spinal dysraphism, Myelomeningocele, Spina bifida, Hydrocephalus, Polyhydramnios, ... ORPHA:63259
Sarcoidosis, Susceptibility To, 1
Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion OMIM:181000
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Pate... OMIM:208085
Jansen-De Vries Syndrome
Central diaphragmatic hernia, Bicuspid aortic valve, Ventricular septal defect OMIM:617450
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect OMIM:620210
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atr... OMIM:265380
Holoprosencephaly
Encephalocele, Spinal dysraphism, Abnormal pulmonary valve morphology, Cyclopia, Iris coloboma, H... ORPHA:2162
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
3P25.3 Microdeletion Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Knee flexion contracture, Ske... ORPHA:435638
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Camptodactyly, Mitral regurgitation, Ventricular septal defect OMIM:301039
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Right ventricular hypertrophy, Patent foramen ovale, Ventricular septal defect OMIM:614261
Amish Lethal Microcephaly
Limb hypertonia, Decreased fetal movement, Spina bifida ORPHA:99742
Yellow Fever
Reduced left ventricular ejection fraction, Capillary leak, Supraventricular arrhythmia, Hemateme... ORPHA:99829
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Galloway-Mowat Syndrome 7
Edema, Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Lethal Congenital Contracture Syndrome 10
Macroglossia, Torticollis, Fetal akinesia sequence, Ventricular septal defect, Hydrops fetalis, I... OMIM:617022
Suleiman-El-Hattab Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618950
Obsolete: Arnold-Chiari Malformation Type Ii
Hydrocephalus, Meningocele, Myelomeningocele, Aqueductal stenosis, Upper limb muscle weakness, Ha... ORPHA:1136
Burn-Mckeown Syndrome
Atrial septal defect, Hypomimic face, Ventricular septal defect OMIM:608572
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept... ORPHA:2519
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Thickened nuchal skin fold, Patent ductus arteriosus, Ventricular septal de... OMIM:220500
Methimazole Embryofetopathy
Polyhydramnios, Intrauterine growth retardation, Ventricular septal defect ORPHA:1923
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Hydrocephalus, Intrauterine growth retardation, Patent ductus arterios... OMIM:300514
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Optic disc coloboma, Iris coloboma, Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Truncus Arteriosus
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal... ORPHA:3384
Ogden Syndrome
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Perimembranous ve... OMIM:300855
Chromosome 9P Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Perimembranous ventricular septal defect, Patent... OMIM:158170
Distal Deletion 19P
Umbilical hernia, Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect ORPHA:96129
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Flexion contracture, Intrauterine growth retardation, Ventricular septal de... OMIM:617452
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Branchial fistula, Intr... ORPHA:261330
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Ventricular septal defect, Umbilical hernia, Patent foramen oval... OMIM:618454
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Hydrocephalus, Polyhydramnios, Fetal pericardial effusion, Premature b... OMIM:219730
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect OMIM:616559
Weill-Marchesani Syndrome 2
Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Flexion contracture of toe, U... OMIM:608328
Mgat2-Cdg
Ventricular septal defect, Reflex asystolic syncope, Arrhythmia, Hydrops fetalis, Abnormal heart ... ORPHA:79329
Warsaw Breakage Syndrome
Optic disc coloboma, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect OMIM:613398
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Unbalanced atri... OMIM:619657
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Total anomalous pulmonary venous return, Atrioventricula... OMIM:613751
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Atrial septal defect, Ventricular septal defect, Distal amyotrophy, Abnormal heart morphology, Ov... ORPHA:477817
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Hydrocephalus OMIM:615630
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Heart murmur, Intrauterine growth retardation, Ventricular septal defect ORPHA:166035
Aase-Smith Syndrome I
Ventricular septal defect, Flexion contracture, Hydrocephalus OMIM:147800
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Occipital myelomeningocele, Spina bifida, Meningocele, Umbil... ORPHA:567
Distal 22Q11.2 Microduplication Syndrome
Macroglossia, Camptodactyly of finger, Camptodactyly of toe, Ventricular septal defect, Hydroceph... ORPHA:261337
Duane-Radial Ray Syndrome
Small thenar eminence, Iris coloboma, Atrial septal defect, Ventricular septal defect, Upper limb... OMIM:607323
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect