Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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
Congenital Heart Block
Bradycardia, Premature birth, Intrauterine growth retardation, Oligohydramnios, Vaginal birth aft... ORPHA:60041
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Intrauterine growth retardati... OMIM:616276
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Placental Insufficiency
Abnormal placenta morphology, Small placenta, Abnormal umbilical cord blood vessel morphology, Ab... ORPHA:439167
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Pyknoachondrogenesis
Stillbirth OMIM:265880
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Hydrops Fetalis
Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Twin-to-twin transfusion, ... ORPHA:1041
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardio... OMIM:614702
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Glycogen Storage Disease Of Heart, Lethal Congenital
Breech presentation, Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, T... OMIM:261740
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Bradycardia, Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyo... OMIM:618815
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Wea... OMIM:620265
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia, Ventricular hypertrophy, Left ventricular hypertrophy, Int... OMIM:619048
Timothy Syndrome
Single umbilical artery, Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arte... OMIM:601005
Idiopathic Congenital Hypothyroidism
Facial edema, Macroglossia, Bradycardia, Umbilical hernia ORPHA:95717
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonary... ORPHA:2414
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Glycogen Storage Disease Iv
Polyhydramnios, Hydrops fetalis, Bradycardia, Cardiomyopathy, Ascites, Portal hypertension, Skele... OMIM:232500
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele, Anhydramnios OMIM:613885
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Cantu Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Lymphedema, Pericardial effusion, Congenital hyp... OMIM:239850
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame... OMIM:614302
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Polyhydramnios, Diastasis recti, Abnormal heart morphology, Umbilical hernia, Ven... ORPHA:254534
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Craniofaciofrontodigital Syndrome
Persistent fetal circulation, Gastrointestinal hemorrhage, Polyhydramnios, Congestive heart failu... ORPHA:363705
Wild Type Attr Amyloidosis
Pulmonary edema, Congestive heart failure, Myocardial infarction, Bradycardia, Atrial fibrillatio... ORPHA:330001
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia, Decreased fetal movement ORPHA:2898
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Bradycardia, Decreased level of coenzyme Q10 in skeletal muscle,... OMIM:614654
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Int... OMIM:618775
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia OMIM:615297
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Pericardial effusion, Ventricu... ORPHA:26793
Aminoacylase 1 Deficiency
Breech presentation, Bradycardia OMIM:609924
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Cardiomyopathy, Dilated, 1S
Single umbilical artery, Perimembranous ventricular septal defect, Congestive heart failure, Redu... OMIM:613426
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Small placenta, Oligohydramnios ORPHA:397590
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Intrauterine growth retardation, Severe intrauterine growth retardation, Small placenta ORPHA:73272
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Premature ventricular contr... OMIM:212138
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Polyhydramnios, Breech presentation, Weakness of facial musculatur... OMIM:620351
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... ORPHA:555874
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Atrial Standstill 2
Bradycardia, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Pseudo-Torch Syndrome 2
Fetal distress, Bradycardia, Pleural effusion, Ascites, Secundum atrial septal defect, Cerebral h... OMIM:617397
Congenital Enterovirus Infection
Myocarditis, Fetal distress, Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Pleural effusion, H... ORPHA:292
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Familial Thyroid Dyshormonogenesis
Facial edema, Macroglossia, Bradycardia, Umbilical hernia ORPHA:95716
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl... OMIM:252011
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ... OMIM:609286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Bradycardia, Cardiac arrest, Hypotension, Premature birth, Tachycardia ORPHA:70587
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Premature birth, Atrial septal defect, Ventricular septal defect... ORPHA:1909
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia, Umbilical hernia ORPHA:226313
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Limb hypertonia, Multiple muscular ventricular septal defects, Pericardial effusi... OMIM:620070
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Hydrocephalus, Wrist flexion co... OMIM:208150
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Eng-Strom Syndrome
Intrauterine growth retardation, Camptodactyly of finger, Ventricular septal defect, Abnormal car... ORPHA:1937
Nemaline Myopathy 9
Polyhydramnios, Breech presentation, Nemaline bodies, Arthrogryposis multiplex congenita, Ventric... OMIM:615731
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Decreased fetal movement, Atrial septal defect, Ven... OMIM:253300
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Abnormality of prenatal development or birth, Sinus b... ORPHA:101016
Neu-Laxova Syndrome 1
Short umbilical cord, Stillbirth, Polyhydramnios, Transposition of the great arteries, Small plac... OMIM:256520
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Spina bifida, Mitral valve prolapse, Small hypothenar eminence, Small thenar emine... OMIM:211960
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Ascites, Fetal skin edema, Pericardial effusion, Decreased fetal movement, Atria... OMIM:608776
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Spina bifida occulta, Lymphedema, Pleural effusion, Camptodactyly, ... OMIM:235510
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr... OMIM:614980
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... OMIM:618280
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Anencephaly, Spina bifida, Hypoplastic left heart ORPHA:2476
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Abnormal heart valve morphology, Pleural effusion, Ascites, Angioedema, ... ORPHA:36412
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septa... OMIM:249670
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Bradycardia, Premature birth, Conotruncal defect, Third degree atr... ORPHA:40366
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect, Pedal edema, Patent ductus arteriosus OMIM:126320
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Glutamine Deficiency, Congenital
Neonatal death, Flexion contracture, Camptodactyly, Bradycardia OMIM:610015
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Abnormali... ORPHA:860
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia OMIM:614407
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Hypertension, Ascites, Portal hypertension, Pericarditis, Pericardial e... OMIM:619487
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Hemothorax, Pleural effusion, Pericardial ef... ORPHA:199241
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Knee flexion contracture, Bradycardia, Weakness of facial musc... ORPHA:70
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Necrotizing Enterocolitis
Bradycardia, Ascites, Hypotension, Abnormal heart morphology, Premature birth, Edema, Shock ORPHA:391673
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Limb hypertonia, Bradycardia OMIM:614498
Restrictive Dermopathy
Short umbilical cord, Large placenta, Polyhydramnios, Transposition of the great arteries, Dextro... ORPHA:1662
Hypothyroidism Due To Tsh Receptor Mutations
Edema, Macroglossia, Bradycardia, Umbilical hernia ORPHA:90673
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Cardiac amyloidosis, Left ventricular outflow tract obs... ORPHA:439232
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Coloboma, Pleural effusion, Ascites, Pericardial effusion, Hematochezia, Anasarca OMIM:618183
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Breech presentation, Bradycardia, Hypertension, Retinal hemorrhage, Flexion contracture, Tachycar... OMIM:614653
Alpha-Thalassemia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Generalized edema, Pericardial effusion ORPHA:846
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Neonatal de... OMIM:619167
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus, Decreased fetal movement OMIM:619717
Acute Interstitial Pneumonia
Peripheral edema, Pericardial effusion, Hypertension, Pleural effusion ORPHA:79126
Pediatric Systemic Lupus Erythematosus
Myositis, Pleural effusion, Ascites, Pericardial effusion, Raynaud phenomenon, Edema ORPHA:93552
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal aortic valve morphology,... ORPHA:1120
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Large placenta, Polyhydramnios, Diastasis recti, Wrist flexion contracture, Camptodactyly, Flexio... ORPHA:254528
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Pleural effusion, Camptodactyly, Pericardial effusion, Edema, Arthrogryposis multi... OMIM:617822
Mosaic Trisomy 16
Single umbilical artery, Large placenta, Premature birth, Abnormal heart morphology, Patent ductu... ORPHA:1708
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Ventricular septal defect, Mitral regurgitation, Abnormal cardiac septum morphology ORPHA:83473
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Ritscher-Schinzel Syndrome 1
Single umbilical artery, Hydrocephalus, Coloboma, Pulmonic stenosis, Aortic valve stenosis, Tetra... OMIM:220210
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial septal defect, Ve... ORPHA:49827
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Abnormality of the amniotic fluid, Pericarditis, Pericardial effusion, Nonimmune ... OMIM:212065
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Hydranencephaly OMIM:601355
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Neurooculocardiogenitourinary Syndrome
Coloboma, Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Cardiomegaly, ... OMIM:618652
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Ascites, Epistaxis, Diffuse alveolar hemorrhage, Myocardi... ORPHA:99827
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Prolonged QT interval, Bradycardia, Atrial fibrillation, Skeletal muscle hype... OMIM:613327
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Tetralogy of Fall... ORPHA:1908
Long Qt Syndrome 3
Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib... OMIM:603830
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Flexion contracture, Patent ductus arteriosus, Tachycardia, Atrial septal defect, V... OMIM:613870
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Intrauterine growth retardation, Atrial s... OMIM:611134
Grange Syndrome
Ventricular septal defect, Hypertension, Aortic regurgitation, Patent ductus arteriosus ORPHA:79094
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia, Meningocele ORPHA:1759
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Trichohepatoenteric Syndrome 1
Large placenta, Polyhydramnios, Aortic regurgitation, Pulmonic stenosis, Abnormalities of placent... OMIM:222470
Congenital Syphilis
Myocarditis, Large placenta, Hydrops fetalis, Hydrocephalus, Premature birth, Intrauterine growth... ORPHA:499009
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Coloboma, Hypertension, Intracranial hemorrhage, Ventr... OMIM:614424
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ascites, Pulmonary arterial hypertension, Fetal pericardial effusion, Nonimmune hyd... OMIM:617021
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Coloboma, Ventricular septal defect, Holoprosencephaly OMIM:601357
Alg9-Cdg
Atrial septal defect, Hydrops fetalis, Torticollis, Abnormal left ventricular outflow tract morph... ORPHA:79328
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Q Fever
Myocarditis, Abnormal left ventricular function, Abnormal heart valve morphology, Vasculitis, Ple... ORPHA:781
Primary Intestinal Lymphangiectasia
Pleural effusion, Ascites, Generalized edema, Pericardial effusion, Edema ORPHA:90362
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Congenital foot contractures, Limb hypertonia, Bradycardia ORPHA:565624
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrops fetalis, Atrial flutter, Lymphedema, Patent ductus arteriosus, Overriding aorta, Atrial s... OMIM:601927
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida ORPHA:2345
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pleural effusion, Pericardial effusion, Epistaxis, Subconjunctival hemorrhage ORPHA:464329
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Poems Syndrome
Pleural effusion, Ascites, Pulmonary arterial hypertension, Pericardial effusion, Edema ORPHA:2905
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Macroglossia, Bradycardia, Umbilical hernia ORPHA:90674
Noonan Syndrome 8
Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic... OMIM:615355
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Hypertrophic cardiomyopathy, Umbilical hernia, Patent ductus arteriosus, Intrauter... OMIM:612938
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Single umbilical artery, Patent ductus arteriosus, Coloboma, Patent foramen ovale, Umbilical hern... ORPHA:329224
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Lujo Hemorrhagic Fever
Myocarditis, Bradycardia, Hypotension, Generalized edema, Cerebral edema, Subconjunctival hemorrh... ORPHA:319213
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Noonan Syndrome 12
Ventricular septal defect, Polyhydramnios, Tetralogy of Fallot, Supravalvular aortic stenosis OMIM:618624
Aicardi-Goutieres Syndrome 7
Hematemesis, Limb hypertonia, Vasculitis, Hypertension, Hypertrophic cardiomyopathy, Pericardial ... OMIM:615846
Humero-Radial Synostosis
Meningocele, Chorioretinal coloboma, Iris coloboma ORPHA:3265
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular septal defect OMIM:249270
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, L... OMIM:108900
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Elevated pulmonary artery pressure, Congestive heart failu... ORPHA:1329
D-Glyceric Aciduria
Bradycardia, Patent ductus arteriosus OMIM:220120
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Decreased fetal move... OMIM:607598
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor... ORPHA:2299
Gaucher Disease Type 3
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pulmonary arterial ... ORPHA:77261
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Triploidy
Polyhydramnios, Iris coloboma, Meningocele, Hydrocephalus, Holoprosencephaly, Intrauterine growth... ORPHA:3376
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Iris coloboma ORPHA:2143
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Sepsis In Premature Infants
Bradycardia, Tachycardia, Hypotension, Caesarian section, Premature birth, Edema ORPHA:90051
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Schisis Association
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Spina bifida, Premature birth ORPHA:63862
Tatton-Brown-Rahman Syndrome
Fetal distress, Tricuspid regurgitation, Umbilical hernia, Atrial septal defect, Ventricular sept... OMIM:615879
Intellectual Developmental Disorder, Autosomal Dominant 48
Umbilical hernia, Echogenic intracardiac focus, Patent ductus arteriosus, Bicuspid aortic valve, ... OMIM:617751
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse, Umbilical hernia ORPHA:536532
Myhre Syndrome
Skeletal muscle hypertrophy, Hypertension, Camptodactyly, Aortic valve stenosis, Pericardial effu... OMIM:139210
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy, Decreased fe... OMIM:616816
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal defect, Ventr... OMIM:614262
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Patent foramen ovale, Abnormal heart morphology, Umbilical hernia, Bicu... ORPHA:500159
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Pulmonary insufficiency, Bradycardia, Pulmonary arterial hyperte... OMIM:614437
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Congestive heart failure, Pericardial effusion, Dilated cardiomyopathy, Sudden c... ORPHA:73224
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Bohring-Opitz Syndrome
Bradycardia, Facial hypotonia, Coloboma, Bilateral wrist flexion contracture, Congenital contract... ORPHA:97297
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Gitelman Syndrome
Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Per... ORPHA:358
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Camptodactyly, Pericardial effusion, Pericarditis... ORPHA:1272
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Nonimmune hydrops fetalis, Severely redu... OMIM:620609
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Coloboma, Lymphedema, Spina bifida, Raynaud phenomenon, Arrhythmia ORPHA:2874
Verheij Syndrome
Coloboma, Truncus arteriosus, Intrauterine growth retardation, Ventricular septal defect, Branchi... OMIM:615583
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Joubert Syndrome 18
Intrauterine growth retardation, Occipital encephalocele, Ventricular septal defect, Camptodactyly OMIM:614815
Neuroleptic Malignant Syndrome
Bradycardia, Hypertension, Dehydration, Hypertensive crisis, Hypotension, Rhabdomyolysis, Arrhyth... ORPHA:94093
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula... OMIM:615996
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Anomalous pulmonary venous return,... ORPHA:392
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Pulmonic stenosis, Abnormal heart morphology, Chorioretinal coloboma, Pa... ORPHA:284169
Recombinant Chromosome 8 Syndrome
Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet ri... OMIM:179613
Limb Body Wall Complex
Congenital diaphragmatic hernia, Ectopia cordis, Single umbilical artery, Short umbilical cord, A... ORPHA:2369
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Xk Aprosencephaly Syndrome
Atrial septal defect, Polyhydramnios, Ventricular septal defect ORPHA:3469
Diabetic Embryopathy
Single umbilical artery, Transposition of the great arteries, Hydrocephalus, Tetralogy of Fallot,... ORPHA:1926
Emanuel Syndrome
Congenital diaphragmatic hernia, Single umbilical artery, Patent ductus arteriosus, Torticollis, ... OMIM:609029
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Chromosome 5Q12 Deletion Syndrome
Patent foramen ovale, Hypotension, Increased nuchal translucency, Patent ductus arteriosus, Atria... OMIM:615668
Meckel Syndrome, Type 1
Occipital encephalocele, Single umbilical artery, Iris coloboma, Breech presentation, Anencephaly... OMIM:249000
Eisenmenger Syndrome
Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Rig... ORPHA:97214
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis ORPHA:3449
Alg3-Cdg
Neural tube defect, Arthrogryposis multiplex congenita, Cardiomyopathy, Macroglossia ORPHA:79321
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia, Neonatal death OMIM:615524
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Limb muscle weakness, Spina bifida OMIM:207950
Kagami-Ogata Syndrome
Diastasis recti, Large placenta, Polyhydramnios, Premature birth ORPHA:254519
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Single umbilical artery, Polyhydramnios, Hydrops fetalis, Pleural effusion, Ascites, Hypertrophic... OMIM:616897
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Encephalocele ORPHA:398156
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:619189
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Myopathy, Meningocele ORPHA:588
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Hydrocephalus, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachyca... OMIM:277400
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Intracranial hemorrhage, Meningocele ORPHA:2481
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia OMIM:619769
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Single umbilical artery, Ventricular septal defect, Hypoplastic ... ORPHA:2772
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Premature birth, Intrauterine growth retardation, ... OMIM:616651
Restrictive Dermopathy 1
Short umbilical cord, Stillbirth, Polyhydramnios, Patent ductus arteriosus, Hydropic placenta, Pr... OMIM:275210
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Pericardial eff... ORPHA:91347
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618330
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Prolonged QRS complex, Cardio... ORPHA:75565
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Hydrocephalus, Aplasia of the left hemidiaphragm, Myelomening... ORPHA:2437
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Patent foramen ovale, Tetralogy of Fallot, Umbilical her... OMIM:612582
Cat Eye Syndrome
Tricuspid atresia, Patent ductus arteriosus, Total anomalous pulmonary venous return, Pulmonic st... OMIM:115470
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
3C Syndrome
Single umbilical artery, Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hydr... ORPHA:7
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Tyshchenko Syndrome
Polyhydramnios, Pulmonic stenosis, Premature birth, Intrauterine growth retardation, Atrial septa... OMIM:615102
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Arthrogryposis-like hand anomaly, Camptodactyly, Abnormal heart morphology,... ORPHA:369891
Greenberg Dysplasia
Stillbirth, Large placenta, Polyhydramnios, Hydrops fetalis, Increased nuchal translucency, Neona... OMIM:215140
Scimitar Syndrome
Congestive heart failure, Abnormal hemidiaphragm morphology, Tricuspid atresia, Partial anomalous... ORPHA:185
Wildervanck Syndrome
Facial palsy, Meningocele ORPHA:3456
Intellectual Developmental Disorder, Autosomal Dominant 72
Facial hypotonia, Spina bifida OMIM:620439
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylopericardium, Chylothorax, Hydrocephalus, Lymphedema, Ascites ORPHA:538
Combined Oxidative Phosphorylation Deficiency 39
Congenital contracture, Joint contracture, Sinus bradycardia, Flexion contracture, Intrauterine g... OMIM:618397
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Bradycardia, Umbilical hernia OMIM:218700
Chédiak-Higashi Syndrome
Edema, Pericardial effusion, Pleural effusion, Epistaxis ORPHA:167
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Camptodactyly of finger, Scapular winging, Spina bifida ORPHA:1327
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618974
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Left ventricular outflow tract obstruction, Total anomalous ... OMIM:613854
Mosaic Trisomy 9
Single umbilical artery, Hydrops fetalis, Polyhydramnios, Dextrocardia, Abnormal heart valve morp... ORPHA:99776
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Facial edema, Macroglossia, Bradycardia, Umbilical hernia ORPHA:226307
King-Denborough Syndrome
Breech presentation, Weakness of facial musculature, Ventricular septal defect, Centrally nucleat... OMIM:619542
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect, Umbilical he... ORPHA:1488
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Caesarian section, Epista... ORPHA:369929
Pelger-Huet Anomaly
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness, Umbilical hernia OMIM:169400
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Spina bifida occulta, Meningocele, Camptodactyly of finger, Umbi... ORPHA:2311
Emanuel Syndrome
Congenital diaphragmatic hernia, Single umbilical artery, Breech presentation, Patent ductus arte... ORPHA:96170
Hennekam Syndrome
Hydrops fetalis, Chylothorax, Lymphedema, Ascites, Pericardial effusion, Camptodactyly of finger ORPHA:2136
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Atrial septal defect, Large placenta, Polyhydramnios, Diastasis recti, Hypertrophic cardiomyopath... ORPHA:96334
Absence Of The Pulmonary Artery
Pulmonary edema, Congestive heart failure, Atrial flutter, Abnormal hemidiaphragm morphology, Red... ORPHA:980
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the g... OMIM:306955
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect, Meningocele OMIM:620511
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe... OMIM:620066
Double Outlet Right Ventricle
Tachycardia, Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Heart murmur, Double out... ORPHA:3426
Generalized Arterial Calcification Of Infancy
Fetal distress, Left ventricular systolic dysfunction, Hydrops fetalis, Polyhydramnios, Ventricul... ORPHA:51608
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Histiocytoid Cardiomyopathy
Pulmonary edema, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Tachyc... ORPHA:137675
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Truncus arteriosus, Ventricular septal defect, Portal hypertension OMIM:616589
Anophthalmia Plus Syndrome
Spina bifida, Iris coloboma ORPHA:1104
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Intrauterine growth retardation, Atrial sept... OMIM:618142
Hadziselimovic Syndrome
Ventricular septal defect, Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot OMIM:612946
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent foramen ovale, Scapular winging, Tricuspid regurgitation, Increased nuchal translucency, P... OMIM:618870
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Single umbilical artery, Perimembranous ventricular septal defec... OMIM:600001
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida ORPHA:957
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Ventricular septal defect, Iris coloboma ORPHA:2789
Lateral Meningocele Syndrome
Patent ductus arteriosus, Meningocele, Hydrocephalus, Decreased muscle mass, Umbilical hernia, Bi... OMIM:130720
Kagami-Ogata Syndrome
Polyhydramnios, Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Premature bi... OMIM:608149
Carpenter Syndrome 1
Transposition of the great arteries, Patent ductus arteriosus, Spina bifida occulta, Camptodactyl... OMIM:201000
Marburg Hemorrhagic Fever
Bradycardia, Capillary leak, Dehydration, Hypotension, Hypovolemia, Internal hemorrhage, Pericard... ORPHA:99826
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Hydrocephalus, Abnormal pericardium ... ORPHA:1335
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Iris coloboma, Patent ductus arteriosus, Diastasis recti, Spina ... ORPHA:2092
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Coronary artery f... OMIM:619343
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:261243
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Congenital diaphragmatic hernia, Large placenta, Polyhydramnios, Rhabdo... ORPHA:116
Pagod Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Encephalocele, Meningocele, Spina bifida... ORPHA:991
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Premature birth, Polyhydramnios, Ventricular septal defect, Single umbilical artery ORPHA:2256
Transaldolase Deficiency
Patent foramen ovale, Patent ductus arteriosus, Intrauterine growth retardation, Atrial septal de... OMIM:606003
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Single umbilical artery, Atrioventricular canal defect, Pulmonary arteri... ORPHA:210122
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Hydrops fetalis, Polyhydramnios, Abnormal tricuspid valve morphology, Ve... ORPHA:3405
Fetal Trimethadione Syndrome
Transposition of the great arteries, Tetralogy of Fallot, Intrauterine growth retardation, Atrial... ORPHA:1913
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Chromosome 18Q Deletion Syndrome
Congestive heart failure, Patent ductus arteriosus, Dysplastic pulmonary valve, Absence of the pu... OMIM:601808
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Skeletal muscle atrophy, Knee flexion contracture, Atrial septal defect, Ventricul... OMIM:603387
Congenital Rubella Syndrome
Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect, Patent ductus a... ORPHA:290
Phaver Syndrome
Intrauterine growth retardation, Camptodactyly of finger, Ventricular septal defect, Myelomeningo... ORPHA:2876
Contractural Arachnodactyly, Congenital
Knee flexion contracture, Elbow flexion contracture, Wrist flexion contracture, Congenital finger... OMIM:121050
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Hydrops fetalis... OMIM:212093
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect ORPHA:401935
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele OMIM:603194
Pseudotrisomy 13 Syndrome
Cyclopia, Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, Holoprosencephaly, Atria... OMIM:264480
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect ORPHA:2516
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Arthrogryposis multiplex congenita, Arrhythmia, Intrauterine growth retarda... ORPHA:254346
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Coffin-Siris Syndrome 7
Single umbilical artery, Polyhydramnios, Patent foramen ovale, Bicuspid aortic valve, Ventricular... OMIM:618027
Lambotte Syndrome
Intrauterine growth retardation, Semilobar holoprosencephaly, Ventricular septal defect OMIM:245552
Intellectual Developmental Disorder, Autosomal Dominant 47
Intrauterine growth retardation, Single umbilical artery, Ventricular septal defect, Increased nu... OMIM:617635
Trisomy 13
Hydrops fetalis, Patent ductus arteriosus, Intrauterine growth retardation, Atrial septal defect,... ORPHA:3378
Trisomy 18
Congenital diaphragmatic hernia, Cyclopia, Anencephaly, Spina bifida, Camptodactyly of finger, Ho... ORPHA:3380
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Intrauterine growth retardation, Ve... ORPHA:1393
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Atrial Septal Defect 1
Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu... OMIM:108800
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Oligohydramnios, Congenital diaphragmatic hernia ORPHA:139466
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect OMIM:231060
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Single umbilical artery, Congenital diaphragmatic hernia, Transpos... ORPHA:2255
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Aortic regurgitation, Co... ORPHA:508498
Craniorachischisis
Congenital diaphragmatic hernia, Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, C... ORPHA:63260
Noonan Syndrome 10
Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Increased nuchal translu... OMIM:616564
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Arrhythmia, Nonimmune hydrops fetal... OMIM:153400
Pontocerebellar Hypoplasia, Type 17
Limb hypertonia, Secundum atrial septal defect, Patent ductus arteriosus, Intrauterine growth ret... OMIM:619909
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Doub... OMIM:618316
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:208530
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida, Retinal coloboma, Camptodactyly of finger, Iris col... ORPHA:2839
Prune Belly Syndrome
Aplasia of the abdominal wall musculature, Tetralogy of Fallot, Patent ductus arteriosus, Atrial ... ORPHA:2970
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1770
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Fountain Syndrome
Facial edema, Spina bifida occulta, Spina bifida ORPHA:3219
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Alagille Syndrome
Spina bifida occulta, Hypertension, Telangiectasia of the skin, Intrauterine growth retardation, ... ORPHA:52
Costello Syndrome
Polyhydramnios, Hypertrophic cardiomyopathy, Thickened nuchal skin fold, Pulmonic stenosis, Thick... ORPHA:3071
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Diaphragmatic eventration, Umbilical hernia, Ventricular septal ... OMIM:222448
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Increased nuchal translucency, Abnormal heart morphology, Atrial septal def... OMIM:618494
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Patent ductus arteriosus, Ventricular hypertrophy, Retinal coloboma, Pulmonic stenosis, Increased... OMIM:620654
Polysyndactyly With Cardiac Malformation
Stillbirth, Atrial septal defect, Polyhydramnios, Ventricular septal defect OMIM:263630
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Chorioretinal coloboma, Intrauterine growth retardation, Ventricular s... ORPHA:494344
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal... ORPHA:371428
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventricular septal defect, Patent ductus arteriosus OMIM:218350
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Peau d'orange, Patent ductus arteriosus, Intrauterine growth retardation, Atrial s... OMIM:614576
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Meacham Syndrome
Single umbilical artery, Stillbirth, Transposition of the great arteries, Dextrocardia, Cardiac t... OMIM:608978
Paternal Uniparental Disomy Of Chromosome 6
Abnormal placenta morphology, Patent ductus arteriosus, Dehydration, Umbilical hernia, Cardiomega... ORPHA:96191
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Neonatal death OMIM:613730
Kapur-Toriello Syndrome
Joint contracture of the hand, Retinal coloboma, Camptodactyly of finger, Patent ductus arteriosu... OMIM:244300
Ogden Syndrome
Ventricular septal defect, Torticollis, Cardiogenic shock, Arrhythmia ORPHA:276432
Trisomy 1Q
Congenital diaphragmatic hernia, Polyhydramnios, Hydrops fetalis, Hydrocephalus, Increased nuchal... ORPHA:261344
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Pulmonary arterial hypertension, Aborted sudden cardiac death, Rhabdomyolysis, Cardi... OMIM:614921
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Ventricular septal defect, Hypo... OMIM:618901
Diamond-Blackfan Anemia 7
Fetal distress, Polyhydramnios, Secundum atrial septal defect, Tetralogy of Fallot, Patent ductus... OMIM:612562
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Polyhydramnios, Arthrogryposis multiplex congenita, Pulmonic stenosis, Double outlet right ventri... OMIM:301056
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation OMIM:261990
Gm1 Gangliosidosis
Congestive heart failure, Hydrops fetalis, Aplasia/Hypoplasia of the abdominal wall musculature, ... ORPHA:354
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Polyhydramnios, Spina bifida occulta, Camptodactyly, Intrauterine growth retardation, Atrial sept... OMIM:617360
Amish Lethal Microcephaly
Limb hypertonia, Spina bifida, Decreased fetal movement ORPHA:99742
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Chorioretinal coloboma, Meningocele ORPHA:2031
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Patent ductus arteriosus, Ventricular septal defect, Iris coloboma ORPHA:77298
Chromosome 17P13.1 Deletion Syndrome
Knee flexion contracture, Hydrocephalus, Elbow flexion contracture, Spina bifida, Umbilical herni... OMIM:613776
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Coloboma, Pleural effusion, Increased nuchal tr... ORPHA:453499
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Hypoplastic left atrium, Truncus arteriosus, Pulmonic stenosis, ... OMIM:601186
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Polyhydramnios, Hydrops fetalis, Anencephaly, Hydrocephalus, Ret... OMIM:616546
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Camptodactyly OMIM:301039
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Anencephaly, Hydrocephalus, Patent foramen ovale, Ascites, Neonatal death, Holopr... OMIM:269860
Kapur-Toriello Syndrome
Retinal coloboma, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, Iris ... ORPHA:2328
Neu-Laxova Syndrome 2
Polyhydramnios, Spina bifida, Decreased fetal movement, Edema, Intrauterine growth retardation OMIM:616038
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Bradycardia, Patent ductus arteriosus OMIM:617248
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion, Pulmonary arterial hypertension OMIM:181000
Severe Generalized Junctional Epidermolysis Bullosa
Edema, Dilated cardiomyopathy, Dehydration, Bradycardia ORPHA:79404
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Iniencephaly
Congenital diaphragmatic hernia, Polyhydramnios, Anencephaly, Encephalocele, Hydrocephalus, Myelo... ORPHA:63259
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Hydrocephalus, Histiocytoid cardiomyopathy, Arrhythmia, Overridi... OMIM:309801
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Transposition of the great arteries, Left ventricular outflow tract obs... ORPHA:99050
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Single umbilical artery, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Thickened nuch... OMIM:618164
Noonan Syndrome 4
Polyhydramnios, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Ventricular... OMIM:610733
Keutel Syndrome
Ventricular septal defect, Pulmonary arterial hypertension ORPHA:85202
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Small thenar eminence, Pulmonic stenosis, Mitral valve pr... OMIM:142900
Holoprosencephaly
Congenital diaphragmatic hernia, Cyclopia, Encephalocele, Hydrocephalus, Branchial anomaly, Tetra... ORPHA:2162
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Truncus arteriosus, Generalized edema, Systolic heart murmur, Tetralogy of Fal... OMIM:617478
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meni... ORPHA:268810
3P25.3 Microdeletion Syndrome
Knee flexion contracture, Pulmonic stenosis, Skeletal muscle atrophy, Patent ductus arteriosus, A... ORPHA:435638
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Dehydration, Arthrogryposis multiplex congenita, Right ventricular hypertro... OMIM:208085
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri... ORPHA:99829
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Single umbilical ar... OMIM:265380
Galloway-Mowat Syndrome 7
Edema, Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Torticollis, Fetal akinesia sequence, Increased variability in muscle fiber diam... OMIM:617022
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonary arterial hypertension, Patent ductus a... ORPHA:2519
Chromosome 9P Deletion Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Heart murmur, Atrial septal d... OMIM:158170
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Iris coloboma ORPHA:52055
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu... OMIM:270100
Ogden Syndrome
Left atrial enlargement, Premature ventricular contraction, Decreased fetal movement, Cardiomegal... OMIM:300855
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect, Umbilical hernia ORPHA:96129
Fanconi Anemia, Complementation Group B
Single umbilical artery, Hydrocephalus, Patent ductus arteriosus, Intrauterine growth retardation... OMIM:300514
Methimazole Embryofetopathy
Intrauterine growth retardation, Polyhydramnios, Ventricular septal defect ORPHA:1923
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Truncus arteriosus, Camptodactyly of finger, Premature birth, Intrauterine ... ORPHA:261330
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Patent foramen ovale, Pulmonary arterial hypertension, Umbilical... OMIM:618454
Warsaw Breakage Syndrome
Intrauterine growth retardation, Ventricular septal defect, Tetralogy of Fallot, Optic disc coloboma OMIM:613398
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Total anomalous... OMIM:613751
Weill-Marchesani Syndrome 2
Congestive heart failure, Flexion contracture of toe, Elbow flexion contracture, Pulmonic stenosi... OMIM:608328
Truncus Arteriosus
Pulmonary edema, Transposition of the great arteries, Aortic regurgitation, Tachycardia, Abnormal... ORPHA:3384
Mgat2-Cdg
Hydrops fetalis, Reflex asystolic syncope, Abnormal heart morphology, Arrhythmia, Patent ductus a... ORPHA:79329
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Hydrocephalus, Fetal pericardial effusion, Premature birth, Ventricular septal de... OMIM:219730
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect OMIM:616559
ERI1-related disease
Tricuspid regurgitation, Pulmonary arterial hypertension, Abnormal heart morphology, Intrauterine... OMIM:608739
Neu-Laxova Syndrome
Muscular dystrophy, Polyhydramnios, Aplasia/Hypoplasia involving the skeletal musculature, Spina ... ORPHA:2671
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Bi... ORPHA:477817
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Intrauterine growth retardation, Ventricular septal defect, Heart murmur ORPHA:166035
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect, Flexion contracture OMIM:147800
Distal 22Q11.2 Microduplication Syndrome
Palpebral edema, Tricuspid valve prolapse, Hydrocephalus, Tricuspid regurgitation, Camptodactyly ... ORPHA:261337
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se... OMIM:619657
Noonan Syndrome 2
Atrioventricular canal defect, Polyhydramnios, Patent foramen ovale, Cardiomyopathy, Hypertrophic... OMIM:605275
Hallermann-Streiff Syndrome
Hypertension, Pulmonary arterial hypertension, Spina bifida, Chorioretinal coloboma, Optic disc c... OMIM:234100
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Spina bifida occulta, Facial palsy, Retinal coloboma, Upper limb muscle hy... OMIM:607323
Noonan Syndrome 3
Tricuspid valve prolapse, Polyhydramnios, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulm... OMIM:609942
Seckel Syndrome 9
Congenital diaphragmatic hernia, Polyhydramnios, Decreased fetal movement, Intrauterine growth re... OMIM:616777
Specc1L-Related Hypertelorism Syndrome
Umbilical hernia, Arrhythmia, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect... ORPHA:1519
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Atrial septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defect, Ve... OMIM:600987
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect ORPHA:75389
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart ORPHA:1455
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus OMIM:617516
Adams-Oliver Syndrome 1
Encephalocele, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Aortic valve ste... OMIM:100300
De Barsy Syndrome