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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Pyknoachondrogenesis
Stillbirth OMIM:265880
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic c... OMIM:115197
Coenzyme Q10 Deficiency, Primary, 7
Intrauterine growth retardation, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Hypoplast... OMIM:616276
Placental Insufficiency
Abnormal placenta morphology, Intrauterine growth retardation, Maternal hypertension, Eclampsia, ... ORPHA:439167
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction, Arrhy... OMIM:615373
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Hypertrophic cardiomyopathy, Simpli... OMIM:618815
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Long Qt Syndrome 16
Second degree atrioventricular block, Bradycardia, T-wave alternans, Patent ductus arteriosus aft... OMIM:618782
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, EMG: my... OMIM:601419
Idiopathic Congenital Hypothyroidism
Macroglossia, Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Umbili... ORPHA:95717
Hydrops Fetalis
Arrhythmia, Nonimmune hydrops fetalis, Pleural effusion, Capillary leak, Abnormal heart morpholog... ORPHA:1041
Coenzyme Q10 Deficiency, Primary, 5
Cerebral atrophy, Intrauterine growth retardation, Secondary microcephaly, Bradycardia, Left vent... OMIM:614654
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Congestive heart failure, Ventricular hypertrophy, Bradycardia, ... OMIM:619048
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Atrial Septal Defect 6
Bradycardia, Atrial septal defect, Atrial fibrillation OMIM:613087
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia, Microcephaly, Diffuse cerebral atrophy, Decreased fetal movement ORPHA:2898
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Prolonged QT interval, Ventr... OMIM:601005
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Muscular dystrophy, Proximal amyotrophy, Atrial fibrillation, Bradycardia OMIM:614302
Craniofaciofrontodigital Syndrome
Premature birth, Abnormal heart valve morphology, Gastrointestinal hemorrhage, Arrhythmia, Patent... ORPHA:363705
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cantu Syndrome
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Lymphedema, Bicuspid aortic v... OMIM:239850
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Pulmonic stenosis, Pulmonary arteria... ORPHA:2414
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Large placenta, Polyhydramnios, Abnormal heart morphology, Ventricular septal de... ORPHA:254534
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Microcephaly, Hypertrophic cardiomyopathy OMIM:617228
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Microcephaly, Severe intrauterine growth retardation, Intrauterine growth retardation, Small plac... ORPHA:73272
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Microcephaly, Ventricular septal defect, Ventricular septal hyper... OMIM:614947
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycar... OMIM:618775
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly OMIM:617248
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Abnormal cerebral white matter morphology OMIM:616299
Familial Thyroid Dyshormonogenesis
Macroglossia, Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Umbili... ORPHA:95716
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Left ventricul... OMIM:163800
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Intrauterine growth retardation, Small placenta ORPHA:397590
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cerebral atrophy, Arrhythmia, Ragged-red muscle fibers, EMG: myopathic abnormalities, Limb muscle... OMIM:609286
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Patent for... ORPHA:26793
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Microcephaly, Flexion contracture, Progressive microcephaly OMIM:614498
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Umbilical hernia, Elevated circulating thyroid-stimulating hormone concentration, Ma... ORPHA:226313
Pseudo-Torch Syndrome 2
Cerebral calcification, Patent ductus arteriosus, Bradycardia, Pleural effusion, Microcephaly, Po... OMIM:617397
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypot... OMIM:212138
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Left ventricular noncompaction, Reduced ej... OMIM:613426
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Intrauterine growth retardation, Arrhythmia, Patent ductus arteriosus, Hypertension, Ventricular ... OMIM:617021
Neu-Laxova Syndrome 1
Short umbilical cord, Patent foramen ovale, Patent ductus arteriosus, Intrauterine growth retarda... OMIM:256520
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Dilatation of the ventr... OMIM:615745
Congenital Disorder Of Glycosylation, Type Il
Decreased fetal movement, Microcephaly, Ascites, Edema, Pericardial effusion, Abnormal cardiac se... OMIM:608776
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Macroglo... OMIM:261740
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Systolic heart murmur, Pat... ORPHA:555874
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Progressive microcephaly, Joint contracture of the 5th finger, Microcephaly, Simplified gyral pat... OMIM:614407
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Congenital Enterovirus Infection
Hydrops fetalis, Hypotension, Myocarditis, Pleural effusion, Decreased fetal movement, Polyhydram... ORPHA:292
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Cerebral atrophy, Portal hypertension, Intrauterine growth retardation, D... OMIM:619487
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Hypotension, Bradycardia, Tachycardia, Premature birth, Pulmonary edema ORPHA:70587
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Patent foramen ovale, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventri... ORPHA:542306
Eng-Strom Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Abnormal car... ORPHA:1937
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... OMIM:617300
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Decreased fet... OMIM:253300
Acitretin/Etretinate Embryopathy
Conotruncal defect, Maternal teratogenic exposure, Third degree atrioventricular block, Microceph... ORPHA:40366
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Ca... ORPHA:860
Glutamine Deficiency, Congenital
Flexion contracture, Neonatal death, Camptodactyly, Hypoplasia of the corpus callosum, Bradycardi... OMIM:610015
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Patent ductus ar... OMIM:616501
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Cardiomyopathy, Ventricular septal defect, Premature birth... ORPHA:1909
Coronary Arterial Fistula
Pedal edema, Cardiomegaly, Patent foramen ovale, Arrhythmia, Abnormal left ventricular function, ... ORPHA:2041
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Microcephaly-Cardiomyopathy Syndrome
Microcephaly, Dilated cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect ORPHA:2515
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Hydrocephalus, Intrauterine growth retardation, Cavum septum pellucidum, Ab... OMIM:208150
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Pleural effusion, Lymphedema, Periorbital edema, Camptodactyly, Ventricular... OMIM:235510
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Abnormal corpus callosum morphology, Intrauterine growth retardation, Hyperinte... ORPHA:565624
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Microcephaly, Ventricular septal defect, Thin corpus callosum OMIM:614249
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular septal hypertrophy, Ventricular fibrillation, Ventricular tachycardia, T-wave inversi... OMIM:608758
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small thenar eminence, Small hypothenar eminence, Spina bifida, Camptodactyly, Mitral valve prola... OMIM:211960
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Toxemia of pregnancy, Left bundle branc... ORPHA:563
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, ST segment elevation, Ventricular fibrillation, Foot dorsiflexor ... ORPHA:263297
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Tor... OMIM:249670
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Megalencephaly, Ventricular septal defect, Hydrocephalus, Mitral regurgitation, Polymicrogyria, A... ORPHA:83473
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Hydranencephaly, Ventricular septal defect, Truncus arteriosus OMIM:601355
Frontal Encephalocele
Cerebral calcification, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, E... ORPHA:1931
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis ORPHA:231111
Cardiac Diverticulum
Premature ventricular contraction, Tricuspid atresia, Diastasis recti, Dextrocardia, Mitral steno... ORPHA:1686
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Umbili... ORPHA:90673
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis, Dupuytren contracture OMIM:122850
Necrotizing Enterocolitis
Hypotension, Abnormal heart morphology, Ascites, Bradycardia, Premature birth, Edema, Shock ORPHA:391673
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Pedal edema, Ventricular septal defect, Patent ductus arteriosus OMIM:126320
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Angioedema, Pleural effusion, Small vessel vasculitis, Ascites, ... ORPHA:36412
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral atrophy, Skeletal muscle atrophy, Pulmonary arterial hypertension, Microcephaly, Cerebra... OMIM:619272
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Restrictive card... OMIM:619313
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Flexion contracture, Multiple joint contractures, Skeletal mus... ORPHA:70
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Double outlet right v... OMIM:220210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pleural effusion, Elevated pulmonary artery pressure, Pedal edema, H... ORPHA:199241
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Lissencephaly, Arthrogryposis multiplex congenita, Hyd... OMIM:617822
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb... OMIM:616812
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Hypoplastic left heart, Ventricular septal defect, Atrioventricular canal de... OMIM:615779
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma, Ventricular septal defect, Anterior encephalocele, Absent septum pellucidum, Holoprosen... OMIM:601357
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus, Decreased fetal movement OMIM:619717
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Intrauterine growth retardation, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Macroglos... OMIM:612938
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Restrictive Dermopathy
Short umbilical cord, Intrauterine growth retardation, Patent ductus arteriosus, Multiple joint c... ORPHA:1662
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Mosaic Trisomy 16
Intrauterine growth retardation, Patent ductus arteriosus, Maternal diabetes, Atrial septal defec... ORPHA:1708
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Cardiac amyloidosis, Supravalvula... ORPHA:439232
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormal aortic valve morphology, Congenital diap... ORPHA:1120
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Coloboma, Ventricular septa... OMIM:618652
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Macro... ORPHA:90674
Acute Interstitial Pneumonia
Pleural effusion, Hypertension, Peripheral edema, Pericardial effusion ORPHA:79126
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Ventricular septal defect, Paroxy... ORPHA:49827
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Nonimmune hydrops fetalis, Microcephaly, Cardiomyopathy, Abnormality of the ... OMIM:212065
Pediatric Systemic Lupus Erythematosus
Myositis, Pleural effusion, Ascites, Raynaud phenomenon, Edema, Pericardial effusion ORPHA:93552
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture, Intrauterine growth retardation, Diastasis recti, Macroglossia, Large placen... ORPHA:254528
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Decreased fetal movement, Myopathy, Ventricular s... OMIM:616816
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:1908
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Subdural hemorrhage, Hypertension, Hematemesis, ... ORPHA:99827
Meckel Syndrome, Type 1
Intrauterine growth retardation, Patent ductus arteriosus, Agenesis of corpus callosum, Occipital... OMIM:249000
Feingold Syndrome Type 2
Microcephaly, Ventricular septal defect ORPHA:391646
Illum Syndrome
Bradycardia, Calcinosis, Arthrogryposis multiplex congenita OMIM:208155
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Cavum septum pellucidum, Mi... ORPHA:329224
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Atrial septal defect, Anencep... OMIM:611134
Alg9-Cdg
Cerebral atrophy, Right ventricular dilatation, Progressive microcephaly, Atrial septal defect, H... ORPHA:79328
Alg3-Cdg
Abnormal cerebral morphology, Cerebral white matter atrophy, Macroglossia, Neural tube defect, Mi... ORPHA:79321
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Gaucher Disease Type 1
Abnormal myocardium morphology, Pulmonary arterial hypertension, Pedal edema, Ascites, Pericardia... ORPHA:77259
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hypoplasia of the corpus callosum, Skeletal muscle atrophy, Atrial septal defect, Knee flexion co... OMIM:603387
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Poems Syndrome
Pleural effusion, Increased circulating prolactin concentration, Pulmonary arterial hypertension,... ORPHA:2905
Catel-Manzke Syndrome
Atrial septal defect, Camptodactyly of finger, Ventricular septal defect ORPHA:1388
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the corpus callosum, Patent foramen ovale, Patent ductus arteriosus, Microcephaly, ... ORPHA:500159
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Atrial septal defect, Hypertension, Ventricular septal defect, Contract... OMIM:613870
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Aortic regurgitation, Intrauterine growth retardation, Pulmonic stenosis, La... OMIM:222470
Grange Syndrome
Ventricular septal defect, Hypertension, Aortic regurgitation, Patent ductus arteriosus ORPHA:79094
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Tetanus
Bradycardia, Tachycardia, Hypertension ORPHA:3299
Noonan Syndrome 12
Tetralogy of Fallot, Supravalvular aortic stenosis, Polyhydramnios, Ventricular septal defect, De... OMIM:618624
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Muscular dystrophy, Prolonged QT interval, Atrial fibrillation, Skeletal mus... OMIM:613327
Feingold Syndrome 2
Ventricular septal defect, Secondary microcephaly OMIM:614326
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia, Ventricular septal de... ORPHA:2143
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Schisis Association
Anencephaly, Congenital diaphragmatic hernia, Microcephaly, Spina bifida, Premature birth, Enceph... ORPHA:63862
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Mmep Syndrome
Microcephaly, Ventricular septal defect ORPHA:3434
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Noonan Syndrome 8
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pleural effusion, Pu... OMIM:615355
Bohring-Opitz Syndrome
Intrauterine growth retardation, Facial hypotonia, Agenesis of corpus callosum, Bilateral wrist f... ORPHA:97297
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Cerebral edema, Hypotension, Myocarditis, Periorbital edema, Generali... ORPHA:319213
Xk Aprosencephaly Syndrome
Atrial septal defect, Microcephaly, Polyhydramnios, Ventricular septal defect ORPHA:3469
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Hypotension, Elevated circulating growth hormone concentration, Increas... ORPHA:91347
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Hematochezia, Pleural effusion, Polyhydramnios, Ascites, Pericardial effusion OMIM:618183
Diabetic Embryopathy
Hydrocephalus, Tetralogy of Fallot, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism,... ORPHA:1926
Q Fever
Abnormal heart valve morphology, Abnormal left ventricular function, Endocarditis, Myocarditis, P... ORPHA:781
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Decreased fetal movement, Polyhydramnios, Ventri... OMIM:607598
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Cerebral atrophy, Ventricular septal defect OMIM:613759
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Atrial septal defect, Hydrops fetalis... OMIM:601927
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Arrhythmia, Patent ductus arteriosus, Congestive heart failure, ... ORPHA:1880
Oculoauriculofrontonasal Syndrome
Microcephaly, Pericallosal lipoma, Ventricular septal defect, Encephalocele ORPHA:398156
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Epistaxis, Pleural effusion, Epidural hemorrhage, Pericardial effusion ORPHA:464329
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect, Congenital muscular torticollis ORPHA:2345
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Panhypopituitarism, Hypopituitarism, ... ORPHA:226307
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... OMIM:618920
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect OMIM:249270
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Cerebral calcification, Ventricular fibrillation, Rhabdom... ORPHA:358
Sepsis In Premature Infants
Caesarian section, Hypotension, Prenatal maternal abnormality, Bradycardia, Tachycardia, Edema, P... ORPHA:90051
Emanuel Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Intrauterine growth retardation, Patent duct... OMIM:609029
Filippi Syndrome
Microcephaly, Intrauterine growth retardation, Ventricular septal defect OMIM:272440
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Arthrogryposis multiplex cong... OMIM:614262
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Complete atrioventricular canal defect, Cardiomegaly,... ORPHA:1329
Recombinant Chromosome 8 Syndrome
Cerebral atrophy, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double out... OMIM:179613
Aymé-Gripp Syndrome
Hydrocephalus, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Congenital diaphragma... ORPHA:1272
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Gaucher Disease Type 3
Abnormal myocardium morphology, Abnormal heart valve morphology, Hydrops fetalis, Mitral valve ca... ORPHA:77261
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Pulmonary arteri... OMIM:608406
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Reduced ejection... OMIM:619371
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Chorioretinal coloboma, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Pulmonic ste... ORPHA:284169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Systolic heart murmur, Patent foramen ovale, Congestive heart failure, ... ORPHA:439
Leigh Syndrome With Leukodystrophy
Focal T2 hyperintense basal ganglia lesion, Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:255241
Primary Intestinal Lymphangiectasia
Pleural effusion, Ascites, Edema, Generalized edema, Pericardial effusion ORPHA:90362
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Low APGAR score, Flexion contracture, Intrauterine growth retardation, Basal ga... ORPHA:79243
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Myhre Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Generalized muscle hypertrophy, Atrial... OMIM:139210
Coffin-Siris Syndrome 10
Microcephaly, Ventricular septal defect OMIM:618506
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Microcephaly, Hypoplastic left heart, Single umbilical artery, V... ORPHA:2772
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Hypoplasia of right ventricle, Ven... ORPHA:1209
Classical-Like Ehlers-Danlos Syndrome Type 2
Umbilical hernia, Mitral valve prolapse, Pericardial effusion ORPHA:536532
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Microcephaly, Periventricular leukomalacia, Ventricular septal defect ORPHA:357225
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Megalencephaly, Ventricular septal defect, Hydrocephalus, Polymicrogyria OMIM:602501
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia, Flexion contracture OMIM:614653
Snakebite Envenomation
Rhabdomyolysis, Angioedema, Muscle fiber necrosis, Cardiogenic shock, Hypopituitarism, Hypotensio... ORPHA:449285
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Pericardial effusion, Pul... ORPHA:73224
Nevus Comedonicus Syndrome
Spina bifida occulta, Microcephaly, Spina bifida ORPHA:64754
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Patent ductus arteriosus, Atrial septal defect, First degree atri... ORPHA:392
Roifman Syndrome
Intrauterine growth retardation, Microcephaly, Ventricular septal defect, Hip contracture, Premat... OMIM:616651
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Orthostatic hypotension, Abnormal size of pi... ORPHA:91355
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Laubry-Pezzi Syndrome
Aortic regurgitation, Patent ductus arteriosus, Congestive heart failure, Abnormal aortic valve c... ORPHA:99094
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Encephalitis Lethargica
Bradycardia, Bilateral basal ganglia lesions, Upper limb muscle weakness ORPHA:83600
Neuroleptic Malignant Syndrome
Rhabdomyolysis, Arrhythmia, Pulmonary embolism, Hypotension, Dehydration, Hypertensive crisis, Hy... ORPHA:94093
Fadd-Related Immunodeficiency
Cerebral atrophy, Ventricular septal defect ORPHA:306550
Emanuel Syndrome
Hydrocephalus, Cerebral atrophy, Intrauterine growth retardation, Patent ductus arteriosus, Multi... ORPHA:96170
Tyshchenko Syndrome
Intrauterine growth retardation, Atrial septal defect, Pulmonic stenosis, Polyhydramnios, Ventric... OMIM:615102
Chiari Malformation Type Ii
Myelomeningocele, Agenesis of corpus callosum, Limb muscle weakness, Spina bifida, Hydrocephalus,... OMIM:207950
Hadziselimovic Syndrome
Tetralogy of Fallot, Hypoplasia of the corpus callosum, Atrial septal defect, Microcephaly, Ventr... OMIM:612946
Amish Lethal Microcephaly
Agenesis of corpus callosum, Limb hypertonia, Decreased fetal movement, Microcephaly, Lissencepha... ORPHA:99742
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplasia of the corp... OMIM:618974
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Umbilical hernia, Elevated circulating thyroid-stimulating hormone concentration, Ma... OMIM:218700
Limb Body Wall Complex
Short umbilical cord, Myelomeningocele, Ectopia cordis, Diastasis recti, Atrial septal defect, An... ORPHA:2369
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Hypertension, Pleural effusion, Pericardial effusion OMIM:108050
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, V... OMIM:612561
Eisenmenger Syndrome
Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle branch block, Atrial f... ORPHA:97214
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Glossopharyngeal Neuralgia
Syncope, Bradycardia, Jaw claudication ORPHA:221098
Catel-Manzke Syndrome
Overriding aorta, Intrauterine growth retardation, Dextrocardia, Ventricular septal defect, Campt... OMIM:616145
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Intrauterine growth retardation, Hydrops fetalis, Hypertrophic cardiomyopath... OMIM:616897
Kagami-Ogata Syndrome
Large placenta, Polyhydramnios, Premature birth, Diastasis recti ORPHA:254519
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Microcephaly, Li... OMIM:618142
Restrictive Dermopathy 1
Short umbilical cord, Premature rupture of membranes, Flexion contracture, Intrauterine growth re... OMIM:275210
3C Syndrome
Hydrocephalus, Chorioretinal coloboma, Tetralogy of Fallot, Abnormal tricuspid valve morphology, ... ORPHA:7
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Cerebral calcification, Myocardial calcification, Retinal ... ORPHA:51608
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Patent ductus arteriosus OMIM:619769
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Camptodactyly, Ventricular septal defect OMIM:613458
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect OMIM:616901
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Agenesis of corpus callosum, Tricuspid atresia, Atrial se... OMIM:264480
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Ventricular septal defect, Truncus arteriosus OMIM:228940
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Microcephaly, Spina bifida, Camptodactyly of finger, Scapular wi... ORPHA:1327
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Agenesis of corpus callosum,... OMIM:612582
Mosaic Trisomy 9
Abnormal heart valve morphology, Intrauterine growth retardation, Patent ductus arteriosus, Endoc... ORPHA:99776
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Microcephaly, Cerebral cortical atrophy, Ve... ORPHA:1166
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Second degree atrioventricular block, Caesarian section, Pulmonary arterial hypertension, Hyperte... ORPHA:369929
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Atrial septal defect, Anencephaly, Congenit... ORPHA:1335
Cerebrocostomandibular Syndrome
Cerebral calcification, Myelomeningocele, Intrauterine growth retardation, Hydranencephaly, Poren... ORPHA:1393
Carpenter Syndrome 1
Cerebral atrophy, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Aplasia/Hy... OMIM:201000
Weill-Marchesani Syndrome
Mitral regurgitation, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Microcephaly, Ventric... ORPHA:1913
Congenital Rubella Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Microcephaly, Ve... ORPHA:290
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium OMIM:615524
Histiocytoid Cardiomyopathy
Cardiomegaly, Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart fa... ORPHA:137675
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture, Intrauterine growth retardation, Diastasis recti, Flexion contracture of thu... ORPHA:96334
Heart Defects, Congenital, And Other Congenital Anomalies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Double outlet left ventricle... OMIM:600001
Joubert Syndrome 18
Camptodactyly, Intrauterine growth retardation, Ventricular septal defect OMIM:614815
Lambotte Syndrome
Semilobar holoprosencephaly, Microcephaly, Intrauterine growth retardation, Ventricular septal de... OMIM:245552
Chédiak-Higashi Syndrome
Pericardial effusion, Edema, Pleural effusion, Epistaxis ORPHA:167
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, Patent foramen ovale, Patent duct... OMIM:619343
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic he... ORPHA:1488
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Microcephaly, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus ORPHA:2516
Greenberg Dysplasia
Toxemia of pregnancy, Hydrops fetalis, Nonimmune hydrops fetalis, Large placenta, Polyhydramnios,... OMIM:215140
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Arrhythmia, Patent ductus arteriosus, Predominantly lower limb lymphedema, L... OMIM:153400
Pelger-Huet Anomaly
Lower limb hypertonia, Umbilical hernia, Foot dorsiflexor weakness, Ventricular septal defect OMIM:169400
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:618870
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Abnormal cortical gyration, Cerebral atrophy, Hypoplasia of the corpus callosum, I... OMIM:614576
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Patent ductus arteriosus, Congestive heart failure, Dysplastic ao... OMIM:601808
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Ventricular septal defect, Truncus arteriosus OMIM:616589
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Colpocephaly, Agenesis of corpus callosum, Histiocytoid cardiomyopathy, Arrhyth... OMIM:309801
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Myelomeningocele, Dextrocardia, Thickened nuchal skin fold, ... ORPHA:2437
Mcdonough Syndrome
Diastasis recti, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Aortic valve... OMIM:248950
Donnai-Barrow Syndrome
Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Congenital diaphragmatic ... OMIM:222448
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Intrauterine growth retardation, Atrial septal defect, Microcephaly, Pulmonary ... OMIM:301030
Double Outlet Right Ventricle
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Hypoplastic left heart, He... ORPHA:3426
Scimitar Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Congestive heart failure, Tricuspid atresia, Atria... ORPHA:185
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephaly, Patent foramen ova... OMIM:614261
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Premature birth, Polyhydramnios, Single umbilical artery, Ventricular septal defect ORPHA:2256
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Tetralogy of Fallot, Retinal coloboma, Patent ductus arteriosus, Pach... ORPHA:2328
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Agenesis of corpus callosum, Patent ductus arteriosus, Ventricular septal defect, ... OMIM:218350
Kagami-Ogata Syndrome
Flexion contracture, Patent ductus arteriosus, Diastasis recti, Atrial septal defect, Pulmonic st... OMIM:608149
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Arthrogryposis-like hand anomaly, Macroglossia, Abnormal heart morphology, ... ORPHA:369891
Pagod Syndrome
Arrhythmia, Sudden cardiac death, Situs inversus totalis, Congenital diaphragmatic hernia, Microc... ORPHA:991
Absence Of The Pulmonary Artery
Cardiomegaly, Tetralogy of Fallot, Atrial flutter, Reduced ejection fraction, Patent ductus arter... ORPHA:980
King-Denborough Syndrome
Minicore myopathy, Decreased fetal movement, Type 1 muscle fiber predominance, Breech presentatio... OMIM:619542
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Agenesis of corpus callosum, Atrial septal defect, Small cerebral cortex, Microcephaly, Ventricul... OMIM:617360
Lymphangioleiomyomatosis
Hydrocephalus, Chylothorax, Gastrointestinal hemorrhage, Lymphedema, Ascites, Chylopericardium ORPHA:538
Transaldolase Deficiency
Patent foramen ovale, Patent ductus arteriosus, Intrauterine growth retardation, Atrial septal de... OMIM:606003
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Arrhythmia, Intrauterine growth retardation, Atrial septal defect, Microcep... ORPHA:254346
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida ORPHA:957
Adams-Oliver Syndrome 1
Tetralogy of Fallot, Hypoplasia of the corpus callosum, Atrial septal defect, Pulmonic stenosis, ... OMIM:100300
Chromosome 14Q11-Q22 Deletion Syndrome
Patent foramen ovale, Patent ductus arteriosus, Microcephaly, Ventricular septal defect, Hypoplas... OMIM:613457
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Hypovolemia, Hypotension, Dehydration, Capillary leak, Pericarditis, ... ORPHA:99826
Hennekam Syndrome
Chylothorax, Hydrops fetalis, Lymphedema, Pachygyria, Ascites, Camptodactyly of finger, Pericardi... ORPHA:2136
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertens... ORPHA:210122
Hyperthyroidism, Familial Gestational
Tachycardia, Hyperemesis gravidarum, Decreased thyroid-stimulating hormone level OMIM:603373
Kapur-Toriello Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Iris coloboma, P... OMIM:244300
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Left ventricular noncompaction, Pineal cyst, Patent foramen ovale, Pa... OMIM:300967
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Hydrops fetalis, Single umbilical artery, Polyhydramnios, Ve... ORPHA:3405
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Double... OMIM:618316
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Secondary microcephaly ORPHA:3369
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Tetralogy of Fallot, Hypoplasia of the corpus callosum, Aortic regurgitation,... ORPHA:508498
Trisomy 18
Intrauterine growth retardation, Camptodactyly of finger, Atrial septal defect, Aplasia/Hypoplasi... ORPHA:3380
Anophthalmia Plus Syndrome
Spina bifida, Iris coloboma ORPHA:1104
Delpire-Mcneill Syndrome
Agenesis of corpus callosum, Ventricular septal defect, Cortical dysplasia OMIM:619083
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Double outlet left ventricle... ORPHA:2255
Costello Syndrome
Thickened Achilles tendon, Hypertrophic cardiomyopathy, Pulmonic stenosis, Macroglossia, Thickene... ORPHA:3071
Trisomy 13
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Hydrops fetalis,... ORPHA:3378
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Focal Dermal Hypoplasia
Chorioretinal coloboma, Patent ductus arteriosus, Diastasis recti, Congenital diaphragmatic herni... ORPHA:2092
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Diastasis recti, Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Leiomyo... ORPHA:116
Gm1 Gangliosidosis
Patent ductus arteriosus, Congestive heart failure, Hydrops fetalis, Encephalomalacia, Macrogloss... ORPHA:354
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Congenital diaphragmatic hernia, Microcephaly, Bradycardia, Oligohydramnios OMIM:614437
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Flexion contracture, Intrauterine growth reta... ORPHA:2671
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertension, Microcephaly, Ve... ORPHA:2519
Trisomy 1Q
Agenesis of corpus callosum, Patent ductus arteriosus, Hydrops fetalis, Congenital diaphragmatic ... ORPHA:261344
Serkal Syndrome
Congenital diaphragmatic hernia, Oligohydramnios, Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Ogden Syndrome
Cerebral atrophy, Arrhythmia, Cardiogenic shock, Ventricular septal defect, Torticollis ORPHA:276432
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus ORPHA:401935
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Agenesis of corpus callosum, Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, ... ORPHA:77298
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Atrial Septal Defect 1
Second degree atrioventricular block, Atrial septal defect, Subvalvular aortic stenosis, Atrial s... OMIM:108800
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Elbow flexion contracture, Patent ductus arteriosus, Atrial septal defect,... OMIM:121050
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Transposition of the great arteries OMIM:231060
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Microcephaly, Lissencephaly, Ventricular septal defect, Arthrogryposis mult... OMIM:208085
Ogden Syndrome
Cerebral atrophy, Ventricular tachycardia, Arrhythmia, Torsade de pointes, Premature ventricular ... OMIM:300855
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Congenital diaphragmatic hernia, Sirenomeli... ORPHA:63260
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum, Ventricular septal defect ORPHA:93267
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Systolic heart murmur, Tricuspid atresia, Atrial septal defect, Partial anom... OMIM:617478
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Biventricular hypertrophy, Pulmonary arterial hypertension, Hypertension, V... OMIM:615474
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Skeletal muscle atrophy, Atrial septal defect, Cerebral white matter at... ORPHA:435638
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Abnormal heart morphology, Ventricular s... ORPHA:494344
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Supravalvular aortic stenosis, Pulmonic ste... ORPHA:1461
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Chorioretinal coloboma, Cervical spina bifida OMIM:600122
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Atrioventricular Septal Defect 3
Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... OMIM:600309
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Stillbirth OMIM:263630
Holoprosencephaly
Abnormal pulmonary valve morphology, Chorioretinal coloboma, Tetralogy of Fallot, Arrhythmia, Pan... ORPHA:2162
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Intrauterine growth retardation, Abnormal left ventricular function, Agenesis of corpus callosum,... OMIM:301056
Noonan Syndrome 10
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pleural effusion, Pu... OMIM:616564
Phaver Syndrome
Intrauterine growth retardation, Camptodactyly of finger, Myelomeningocele, Ventricular septal de... ORPHA:2876
19P13.3 Microduplication Syndrome
Cerebral atrophy, Intrauterine growth retardation, Pulmonary arterial hypertension, Microcephaly,... ORPHA:447980
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Alagille Syndrome
Intrauterine growth retardation, Atrial septal defect, Telangiectasia of the skin, Hypertension, ... ORPHA:52
Fanconi Anemia, Complementation Group I
Colpocephaly, Intrauterine growth retardation, Patent foramen ovale, Agenesis of corpus callosum,... OMIM:609053
Prune Belly Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, A... ORPHA:2970
Iniencephaly
Myelomeningocele, Anencephaly, Congenital diaphragmatic hernia, Spinal dysraphism, Lissencephaly,... ORPHA:63259
Paternal Uniparental Disomy Of Chromosome 6
Abnormal placenta morphology, Intrauterine growth retardation, Patent ductus arteriosus, Macroglo... ORPHA:96191
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Dextrotransposition of the great arteries, Ventricular... OMIM:618619
Noonan Syndrome 2
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, P... OMIM:605275
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Aplasia of the right hemidia... OMIM:608978
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Galloway-Mowat Syndrome 7
Microcephaly, Dilated cardiomyopathy, Edema, Ventricular septal defect OMIM:618348
Pelvis-Shoulder Dysplasia
Retinal coloboma, Hydranencephaly, Spina bifida, Hydrocephalus, Camptodactyly of finger, Iris col... ORPHA:2839
Lateral Meningocele Syndrome
Iris coloboma, Umbilical hernia, Meningocele, Ventricular septal defect ORPHA:2789
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Fountain Syndrome
Spina bifida occulta, Spina bifida, Facial edema ORPHA:3219
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Atrioventricular canal defect... ORPHA:453499
Desbuquois Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... ORPHA:1425
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Patent ductus arteriosus, Congestive heart failure, Pulmonary ... ORPHA:1457
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Double outlet right ventricle, Hypertension, Bicuspid aortic valve, Ventric... ORPHA:371428
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Intrauterine growth retardation, Atrial septal defect, Pos... ORPHA:75389
Warsaw Breakage Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Microcephaly, Ventricular septal defect, Op... OMIM:613398
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Intrauterine growth retardation, Hydrops fetalis, Fetal akinesia sequence, Vent... OMIM:617022
Fanconi Anemia, Complementation Group B
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Patent ductus arteriosus, Sin... OMIM:300514
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Small hypothenar eminence, Intrauterine growth retardation, Patent ductus ar... OMIM:612562
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Microcephaly, Ventricular septal defect OMIM:600987
Heart And Brain Malformation Syndrome
Cerebral atrophy, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Polyhydramnios, Ventri... OMIM:616920
Seckel Syndrome 9
Intrauterine growth retardation, Atrial septal defect, Decreased fetal movement, Congenital diaph... OMIM:616777
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Cardiomegaly, Rhabdomyolysis, Sudden cardiac death, Pulmonary arterial hy... OMIM:614921
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Microcephaly, Lissencephaly, Ventricular septal defect, Arthrogryposis multiplex congenita, Right... OMIM:613404
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Agenesis of corpus callosum, Patent ductus arteriosus, Ventricular septal defect, Optic disc colo... ORPHA:52055
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Patent foramen ovale, Patent ductus arteriosus, Intrauterine growth retardation, A... OMIM:269860
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Microcephaly,... ORPHA:261183
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
46,Xx Sex Reversal 5
Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventricular septal defect, Secundum at... OMIM:618901
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
X-Linked Lissencephaly With Abnormal Genitalia
Agenesis of corpus callosum, Patent ductus arteriosus, Microcephaly, Pachygyria, Ventricular sept... ORPHA:452
Microphthalmia, Syndromic 9
Tetralogy of Fallot, Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal def... OMIM:601186
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Polyhydramnios, Ventricular... OMIM:610733
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Tetralogy of Fallot, Aortopulmonary window, Patent ductus arteriosus, Congestive heart failure, A... ORPHA:99050
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Patent foramen ovale, Atrial septal defect, Cavum septum pel... ORPHA:457279
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Intrauterine growth retardation, Heart murmur, Ventricular septal defect, Cerebral cortical atrophy ORPHA:166035
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Hypomimic face OMIM:608572
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flexion contracture, Intrauterine growth retardation, Atrial septal defect, Microcephaly, Ventric... OMIM:617452
Chromosome 9P Deletion Syndrome
Atrial septal defect, Heart murmur, Ventricular septal defect, Patent ductus arteriosus OMIM:158170
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Intrauterine growth retardation, Atrial septal defect, Aplasia/Hypoplasia of the corpus callosum,... ORPHA:505237
Mgat2-Cdg
Progressive microcephaly, Arrhythmia, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart m... ORPHA:79329
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Severe Generalized Junctional Epidermolysis Bullosa
Bradycardia, Dilated cardiomyopathy, Edema, Dehydration ORPHA:79404
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Atrial septal defect, Subvalvular... OMIM:613001
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Pleural effusion, Pericardial effusion OMIM:181000
Myopathy With Extrapyramidal Signs
Perisylvian polymicrogyria, Hypoplastic anterior limbs of the internal capsule, Encephalomalacia,... OMIM:615673
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Insulin-Like Growth Factor I, Resistance To
Intrauterine growth retardation, Patent foramen ovale, Atrial septal defect, Microcephaly, Ventri... OMIM:270450
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Palpebral edema, Tricuspid valve prolapse, Macroglossia, Optic disc col... ORPHA:261337
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Camptodactyly, Ventricular septal defect, Patent ductus arteriosus OMIM:300963
Yellow Fever
Reduced ejection fraction, Capillary leak, Supraventricular arrhythmia, Hematemesis, Bradycardia,... ORPHA:99829
Suleiman-El-Hattab Syndrome
Atrial septal defect, Microcephaly, Ventricular septal defect, Patent foramen ovale OMIM:618950
Marshall-Smith Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Patent ductus a... OMIM:602535
Beaulieu-Boycott-Innes Syndrome
Microcephaly, Ventricular septal defect, Patent ductus arteriosus OMIM:613680
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cerebral atrophy, Macroglossia, Microcephaly, Ventricular septal defect, Perimembranous ventricul... OMIM:301040
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Septo-optic dysplasia, Colpocephaly, Patent foramen ovale, Patent du... OMIM:301043
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, A... OMIM:265380
Acrocardiofacial Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Mitral stenosis, Vent... ORPHA:2008
Inverted Duplicated Chromosome 15 Syndrome
Microcephaly, Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Intrauterine growth retardation, Atrial septal defect, Microcephaly, Branch... ORPHA:261330
Truncus Arteriosus
Cardiomegaly, Tetralogy of Fallot, Abnormal heart valve morphology, Aortic regurgitation, Patent ... ORPHA:3384
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Ventricular septal defect, Bicuspid aortic valve,... OMIM:109730
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Mitral regurgitation, Camptodactyly, Atrial septal defect, Ventricular septal defect OMIM:301039
Leigh Syndrome
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Multiple joint contractures, ... ORPHA:506
Methimazole Embryofetopathy
Polyhydramnios, Intrauterine growth retardation, Ventricular septal defect ORPHA:1923
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect, Hydrocephalus OMIM:147800
Johnson Neuroectodermal Syndrome
Microcephaly, Facial palsy, Ventricular septal defect, Patent ductus arteriosus OMIM:147770
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Cerebral atrophy, Patent ductus arteriosus, Atrial septal defect, Microcephaly, Thickened nuchal ... OMIM:220500
Weill-Marchesani Syndrome 2
Elbow flexion contracture, Patent ductus arteriosus, Congestive heart failure, Pulmonic stenosis,... OMIM:608328
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Agenesis of corpus callosum, Atrial septal defect, Microcephaly, Ventric... ORPHA:261236
Distal Monosomy 19P13.3
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Microcephaly, Intrauterine growth retardation, Ventricular septal defect OMIM:617164
Mosaic Variegated Aneuploidy Syndrome 2
Intrauterine growth retardation, Aortic regurgitation, Atrial septal defect, Subvalvular aortic s... OMIM:614114
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Dysplastic tricuspid valve, ... OMIM:618280
Short Stature And Facioauriculothoracic Malformations
Microcephaly, Ventricular septal defect OMIM:609654
Opitz gbbb syndrome, type II
Agenesis of corpus callosum, Patent ductus arteriosus, Diastasis recti, Atrial septal defect, Cav... OMIM:145410
Trichothiodystrophy
Cerebral dysmyelination, Multiple joint contractures, Intrauterine growth retardation, Partial ag... ORPHA:33364
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
3Mc Syndrome 1
Patent ductus arteriosus, Atrial septal defect, Conjunctival telangiectasia, Microcephaly, Ventri... OMIM:257920
Brachydactyly, Type B1
Camptodactyly, Ventricular septal defect, Joint contracture of the hand OMIM:113000
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Jacobsen Syndrome
Cerebral atrophy, Intrauterine growth retardation, Agenesis of corpus callosum, Hypoplastic left ... ORPHA:2308
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Ventricular septal de... OMIM:600123
Severe X-Linked Intellectual Disability, Gustavson Type
Microcephaly, Contractures of the large joints, Dilation of lateral ventricles, Ventricular septa... ORPHA:3078
De Barsy Syndrome
Premature rupture of membranes, Abnormal corpus callosum morphology, Intrauterine growth retardat... ORPHA:2962
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia