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Gene: Mir1a-2 MGI:3618746

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
microRNA 1a-2
Synonyms:
mmu-mir-1a-2,  mir 1-2,  mmu-mir-1-2,  Mirn1-2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mir1a-2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mir1a-2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia OMIM:300376
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Ethanolaminosis
Cardiomegaly OMIM:227150
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... ORPHA:171445
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal left ventricu... ORPHA:2041
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... ORPHA:263297
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... OMIM:619048
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hypertrophic cardiomyo... OMIM:618815
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... ORPHA:45452
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis, Hyp... OMIM:615779
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... OMIM:620236
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we... ORPHA:1177
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Neonatal death, Wea... OMIM:620265
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural... ORPHA:330001
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... OMIM:617912
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... OMIM:212138
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Pulmonary edema, Left atri... ORPHA:57777
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... OMIM:310300
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... OMIM:607941
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... OMIM:620135
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Indomethacin Embryofetopathy
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios ORPHA:1909
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Pedal edema, Sinus bradycardia OMIM:126320
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo... OMIM:609286
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia ORPHA:228346
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology... ORPHA:980
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Torticollis, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... ORPHA:2299
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios OMIM:615731
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J... ORPHA:85443
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Necrotizing Enterocolitis
Shock, Edema, Abnormal heart morphology, Bradycardia, Hypotension, Ascites ORPHA:391673
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... ORPHA:49827
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Pleural effusion, ... OMIM:617397
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrops fetalis, Ascites OMIM:269920
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, P... ORPHA:422
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Facial hypotonia, Polyhydramnios, First degree atrioventricular block, Abnor... ORPHA:589821
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgi... OMIM:212140
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia OMIM:266500
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect OMIM:614876
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Idiopathic Congenital Hypothyroidism
Facial edema, Macroglossia, Bradycardia ORPHA:95717
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Edema, Abnormal heart morphology, Hepatosplenomegaly, Telangiectasia,... ORPHA:93400
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Bradycardia, Hypotension, Pulmonary edema ORPHA:70587
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion ORPHA:1666
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... OMIM:253250
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy... OMIM:607598
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Tricuspid regurgitation, Polyhydramnios, Centrally nucleated s... OMIM:620351
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric... ORPHA:75249
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Bradycardia, Atrioventricular block OMIM:614407
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis,... OMIM:256550
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Atrial septa... ORPHA:97214
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... OMIM:613870
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Glutamine Deficiency, Congenital
Neonatal death, Flexion contracture, Bradycardia, Camptodactyly OMIM:610015
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent... ORPHA:398124
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Weill-Marchesani Syndrome
Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis ORPHA:3449
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis OMIM:618624
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertroph... OMIM:617713
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular... ORPHA:70591
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial ... OMIM:601927
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se... ORPHA:26793
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet... OMIM:613327
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia ORPHA:42
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... OMIM:614653
Trimethylaminuria
Splenomegaly, Hypertension, Tachycardia OMIM:602079
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect OMIM:613759
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Partial Atrioventricular Septal Defect
Atrial flutter, Angina pectoris, Transient ischemic attack, Bicuspid aortic valve, Coronary sinus... ORPHA:1330
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... ORPHA:392
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Bradycardia, Limb hypertonia OMIM:614498
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v... OMIM:201475
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Polyhydramnios ORPHA:3469
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy OMIM:252920
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Cardiomegaly ORPHA:858
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric... OMIM:619167
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Familial Thyroid Dyshormonogenesis
Facial edema, Macroglossia, Bradycardia ORPHA:95716
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy ORPHA:276556
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Pleural effusion, Mitral regurgitation, Pulmonic steno... OMIM:615355
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... ORPHA:324
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Edema, Congestive heart failure... ORPHA:466677
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Lujo Hemorrhagic Fever
Shock, Facial edema, Myocarditis, Periorbital edema, Subconjunctival hemorrhage, Bradycardia, Hyp... ORPHA:319213
Aortic Valve Disease 1
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... OMIM:109730
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, ... OMIM:612561
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy ORPHA:276575
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Hypertension, Second degr... OMIM:617021
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Truncus ar... OMIM:616589
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block, Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle w... OMIM:616479
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency, Ventricular septal hypertrophy OMIM:619322
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Hypertrophic cardiomyopathy ORPHA:276580
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr... ORPHA:185
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Palpitations, Generali... OMIM:602668
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... OMIM:616897
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Cardiomegaly ORPHA:3137
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Bardet-Biedl Syndrome 19
Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular... OMIM:615996
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia ORPHA:226313
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy OMIM:619272
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... ORPHA:465508
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly ORPHA:99931
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios ORPHA:3405
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Ventricular septal defect OMIM:613730
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Noonan Syndrome 9
Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... ORPHA:158687
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect OMIM:612946
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios ORPHA:139466
Congenital Fibrinogen Deficiency
Tachycardia, Prolonged prothrombin time, Left ventricular hypertrophy, Internal hemorrhage, Right... ORPHA:335
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... ORPHA:97297
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric... ORPHA:99827
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios OMIM:263630
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... ORPHA:3426
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:619189
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Congenital hypertrophy of ... OMIM:239850
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Joint contracture of the hand, Pulmonic stenosis, Camptodactyly, Atria... OMIM:179613
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Edema, Splenomegaly, Bradycardia, Hypotension ORPHA:90051
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect OMIM:618330
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ... OMIM:212093
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... ORPHA:284169
Lambert Syndrome
Ventricular septal defect ORPHA:1296
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Increased nuchal translucency, Macroglossia, Hypotension, Atrial septa... OMIM:615668
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia, Congenital foot contractures, Limb hypertonia ORPHA:565624
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... OMIM:234700
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertension, Mitral reg... OMIM:614008
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology ORPHA:401935
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... OMIM:615351
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Hepatomegaly, Ventricular septal defect, Splenomegaly OMIM:616651
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Limb muscle weakness, Left bundle branch block, Arrhythmia, Ventricular bigeminy OMIM:610131
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... OMIM:601992
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:1166
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, EMG: myopathic abnormalities, Arrhythmia ORPHA:480864
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Rhabdomyolysis, Intracranial he... ORPHA:449285
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Tyshchenko Syndrome
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Dehydration, Syncope, Orthostatic syncope ORPHA:230
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... ORPHA:3384
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio... OMIM:603387
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Hepatomegaly, Ventricular septal defect OMIM:620210
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo... OMIM:617022
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology ORPHA:254534
D-Glyceric Aciduria
Bradycardia OMIM:220120
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalized am... ORPHA:66634
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dehydration, Hypertension, Bradycardia, Hypotens... ORPHA:94093
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Bradycardia, Edema ORPHA:90673
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... OMIM:306955
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly OMIM:301039
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Woods Syndrome
Ventricular septal defect OMIM:615236
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... OMIM:619542
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Camptodactyly OMIM:619576
Ogden Syndrome
Cardiogenic shock, Arrhythmia, Ventricular septal defect, Torticollis ORPHA:276432
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Increased muscle lipid content, Elbow flexion... OMIM:608836
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... ORPHA:1425
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect OMIM:602501
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave, Limb h... ORPHA:444072
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval, Skeletal muscle atrophy OMIM:312750
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Splenomegaly, Telangiectasia, Hepatosplenomegaly, Atrial... OMIM:606003
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Splenomegaly, Flexion c... OMIM:608149
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Dehydration, Capillary leak, Subconjunctival hemor... ORPHA:99826
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc... OMIM:617478
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Edema OMIM:618348
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Tetralogy of Fallot, H... ORPHA:210122
Cardiac-Urogenital Syndrome
Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextroca... OMIM:618280
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect OMIM:615879
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... ORPHA:423
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... OMIM:602782
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Sickle Cell Disease
Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly OMIM:603903
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Abnormal T-wave, A... ORPHA:2131
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Filippi Syndrome
Ventricular septal defect OMIM:272440
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Polyhydramnios ORPHA:2256
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucen... OMIM:618870
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ... ORPHA:371428
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Right bundle branch block, Mi... OMIM:617506
Congenital Rubella Syndrome
Atrial septal defect, Hepatomegaly, Ventricular septal defect, Splenomegaly ORPHA:290
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Elbow flexion contracture, Mit... OMIM:121050
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplastic right heart OMIM:618142
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Joint contracture, ... OMIM:617403
Neurodegeneration And Seizures Due To Copper Transport Defect
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... ORPHA:79280
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis, Ventricular tachycardia, Torsade de pointes... OMIM:616878
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Prolonged prothrombin... ORPHA:71212
Refsum Disease
Heart block, Cardiomyopathy, Skeletal muscle atrophy, Splenomegaly ORPHA:773
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia OMIM:617450
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Mogs-Cdg
Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, Atrial se... ORPHA:79330
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl... ORPHA:373
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect ORPHA:2516
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth... ORPHA:254346
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa... OMIM:618494
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Rhabdomyolysis, Low-to-normal bl... ORPHA:358
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology ORPHA:500159
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... OMIM:608978
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... ORPHA:99050
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... ORPHA:365
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Oculoauriculofrontonasal Syndrome
Ventricular septal defect ORPHA:398156
Joubert Syndrome 18
Ventricular septal defect, Camptodactyly OMIM:614815
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Mitral valve prolapse,... OMIM:616564
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Intellectual Developmental Disorder, Autosomal Dominant 47
Increased nuchal translucency, Ventricular septal defect OMIM:617635
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Tetralogy of Fallot, Abnormal tricus... ORPHA:7
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di... ORPHA:477817
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Macroglossia, Bradycardia ORPHA:90674
Brachydactyly, Type B1
Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Hepatospleno... OMIM:608013
Mgat2-Cdg
Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology, Reflex asystolic syncope, ... ORPHA:79329
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Sinus bradycardia, Congenital contracture, Arthrogryposis multiplex congenit... OMIM:618397
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Costello Syndrome
Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Macroglossia, Pulmonic stenosis... ORPHA:3071
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos... ORPHA:369891
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Pleural effusion, Reduced left ventricular ejection fra... ORPHA:542323
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr... OMIM:618027
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect, Arthrogryposis mul... OMIM:208085
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly OMIM:619123
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, Hypomimic face OMIM:608572
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul... OMIM:619657
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... OMIM:619702
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent... OMIM:618316
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Right bundle branch block, ... OMIM:617402
Emanuel Syndrome
Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Join... OMIM:609029
Noonan Syndrome 4
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... OMIM:610733
Prune Belly Syndrome
Ventricular septal defect, Aplasia of the abdominal wall musculature, Atrial septal defect, Tetra... ORPHA:2970
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Pancreatic hyperplasia, Capillary leak, Prolonge... ORPHA:99829
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Camptodactyly OMIM:619980
Methimazole Embryofetopathy
Ventricular septal defect, Polyhydramnios ORPHA:1923
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia, Edema, Dehydration ORPHA:79404
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hy... OMIM:613404
22Q11.2 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... ORPHA:1727
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium, Neonatal dea... OMIM:601186
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Cardio... OMIM:605275
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect OMIM:601357
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu... ORPHA:2463
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Patent ... ORPHA:488618
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia OMIM:619909
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect ORPHA:2519
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... OMIM:611174
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Splenomegaly, Aplas... ORPHA:354
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Hepatomegaly, Ventricular septal defect OMIM:615630
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Anomalous pul... ORPHA:3097
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Palpitations OMIM:188580
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Abnormal left ventricular function, Pulm... OMIM:301056
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... OMIM:600987
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia ORPHA:90037
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Pelger-Huet Anomaly
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness OMIM:169400
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve ORPHA:329224
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve OMIM:617751
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Syncope, Palpitations,... OMIM:170390
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect ORPHA:85194
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Pulmonic stenosis, ... ORPHA:435638
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Ventricular septal def... ORPHA:1926
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Telangiectasia, Atrial septal defect, Tetralogy of Fallot, Patent fora... OMIM:612582
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Ventricular septal defect ORPHA:79243
Myopathy With Extrapyramidal Signs
Splenomegaly, Hepatomegaly, Calf muscle hypertrophy, Ventricular septal defect OMIM:615673
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Part... OMIM:270100
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale OMIM:614961
Renal Agenesis
Hypertension, Ventricular septal defect, Oligohydramnios ORPHA:411709
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:75389
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Peau d'orange, Ventricular septal defect, Splenomegaly, Atrial septal defect OMIM:614576
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect OMIM:614424
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Congenital diaphragmatic herni... OMIM:309801
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Flexion contracture, Ventricular septal defect OMIM:617452
African Trypanosomiasis
Abnormal EKG, Pericarditis, Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, He... ORPHA:3385
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Ventricular septal defect, Heart murmur ORPHA:166035
Ogden Syndrome
Atrial septal defect, Torticollis, Pulmonary edema, Bicuspid aortic valve, Left atrial enlargemen... OMIM:300855
Emanuel Syndrome
Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma... ORPHA:96170
Trisomy 1Q
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramni... ORPHA:261344
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect OMIM:123700
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Hypertension, Atrial septal ... ORPHA:52
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Cardiomegaly, Congestive he... OMIM:252500
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:457279
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Ventricular septal defect OMIM:619769
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atrial septa... OMIM:601808
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Ventricular septal defect ORPHA:3078
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia, Oligohydramnios OMIM:614437
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Polyhydramnios, Nonimmu... OMIM:265380
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Limb hypertonia OMIM:616920
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:617516
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dehydration, Macroglossia, Oligohydramnios ORPHA:96191
Chromosome 9P Deletion Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Heart ... OMIM:158170
Trisomy 13
Atrial septal defect, Ventricular septal defect, Hydrops fetalis ORPHA:3378
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Limb joint contracture, Ventricular septal defect ORPHA:505237
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect ORPHA:452
Cat Eye Syndrome
Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo... OMIM:115470
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Codas Syndrome
Ventricular septal defect ORPHA:1458
Ulnar-Mammary Syndrome
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... ORPHA:3138
Acrocardiofacial Syndrome
Ventricular septal defect, Truncus arteriosus, Camptodactyly of finger, Atrial septal defect, Mit... ORPHA:2008
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss... ORPHA:581
Seckel Syndrome 9
Atrial septal defect, Congenital diaphragmatic hernia, Ventricular septal defect, Polyhydramnios OMIM:616777
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Prolonged prothrombin time, Dista... ORPHA:14
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Facial edema, Macroglossia, Bradycardia ORPHA:226307
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Polyhydramnios OMIM:219730
Carpenter Syndrome 1
Ventricular septal defect, Joint contracture of the hand, Transposition of the great arteries, Pu... OMIM:201000
Noonan Syndrome 3
Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosis, Tricuspid va... OMIM:609942
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect OMIM:616449
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Char Syndrome
Ventricular septal defect ORPHA:46627
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect OMIM:617895
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... OMIM:600001
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect ORPHA:1908
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis OMIM:614114
Pentalogy Of Cantrell
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Atri... ORPHA:1335
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect OMIM:220500
Kapur-Toriello Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy... ORPHA:273
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:609053
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Bradycardia OMIM:617248
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Macroglossia, Arrhythmia, Tetralogy of Fallot ORPHA:261494
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect ORPHA:1770
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Polyhydramnios, Camptod... ORPHA:99776
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Ventricular septal defect OMIM:617061
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Lymphedema, Splenomegaly, Ascites OMIM:235255
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve OMIM:616652
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Oligohydramnios ORPHA:96201
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T-wave, Abnor... ORPHA:466650
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I... ORPHA:79102
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... OMIM:130650
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger ORPHA:2876
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ventricular septal defect, Polyhydramnios OMIM:243150
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Short Stature-Micrognathia Syndrome
Skeletal muscle hypertrophy, Ventricular septal defect OMIM:617164
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... OMIM:235510
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Bradycardia OMIM:218700
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... OMIM:100300
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia OMIM:230000
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect, Polyhydramnios, Camptodactyly OMIM:617360
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis OMIM:277600
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right... ORPHA:2209
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:457193
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... OMIM:264480
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... ORPHA:209905
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:145420
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis ORPHA:94090
Kapur-Toriello Syndrome
Atrial septal defect, Joint contracture of the hand, Ventricular septal defect, Camptodactyly of ... OMIM:244300
Alg9-Cdg
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the ... ORPHA:79328
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... ORPHA:2255
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Ventricular septal defect, Mitral regurgitation, Congeni... OMIM:615582
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the pectoralis major muscle,... OMIM:142900
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication ORPHA:416
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Splenomegal... ORPHA:84064
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect ORPHA:52055
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula... OMIM:614294
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Camptodactyly OMIM:300963
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... OMIM:178110
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:617159
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Patent foramen ovale, Oligohydramnios OMIM:620113
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Palpebral... OMIM:614866
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis OMIM:613001
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Congestive heart fa... OMIM:256040
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po... ORPHA:51608
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect ORPHA:77298
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios OMIM:611812
19Q13.11 Microdeletion Syndrome
Ventricular septal defect ORPHA:217346
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Flexion contracture, Ventricular septal defect OMIM:309520
Donnai-Barrow Syndrome
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:222448
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Limb hypertonia OMIM:609460
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Ascites ORPHA:1655
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... ORPHA:1780
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia OMIM:612530
Gitelman Syndrome
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Aortopulmonar... OMIM:620025
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly OMIM:617602
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal... OMIM:607721
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the small hand muscles, Pulmonic ... OMIM:610443
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis OMIM:610759
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Neonatal death, Asc... OMIM:269860
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventri... OMIM:300998
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect OMIM:117550
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Neonatal death OMIM:620024
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Camptodactyly, Paten... OMIM:616894
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Polyhydramnios OMIM:615503
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Elbow flexion contracture, Mitral regurgitat... OMIM:608328
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Pulm... OMIM:222470
Bohring-Opitz Syndrome
Ventricular septal defect, Polyhydramnios, Flexion contracture, Camptodactyly, Atrial septal defect OMIM:605039
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect OMIM:106260
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic steno... ORPHA:488632
Zellweger Syndrome
Hepatomegaly, Ventricular septal defect ORPHA:912
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype... ORPHA:51
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f... ORPHA:3472
Mosaic Trisomy 1
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramni... ORPHA:1692
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Double outlet right ventricle, Pulmonary arterial hypertension, Mitral... ORPHA:163956
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect OMIM:300472
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:261236
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Camptodactyly OMIM:272950
Diamond-Blackfan Anemia 10
Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Recombinant 8 Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Camptodactyly of finger ORPHA:96167
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis OMIM:263520
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Contracture of ... ORPHA:464738
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, T... ORPHA:261330
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Macroglossia, Atrial septal defect ORPHA:769
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Oculodentodigital Dysplasia
Arrhythmia, Ventricular septal defect, Camptodactyly of finger ORPHA:2710
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Aorti... ORPHA:464311
Focal Dermal Hypoplasia
Ventricular septal defect, Telangiectasia of the skin, Diastasis recti, Congenital diaphragmatic ... ORPHA:2092
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect ORPHA:1519
Fanconi Anemia, Complementation Group B
Ventricular septal defect OMIM:300514
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, P... OMIM:182250
Phelan-Mcdermid Syndrome
Ventricular septal defect, Palpebral edema, Lymphedema OMIM:606232
C Syndrome
Hepatomegaly, Ventricular septal defect OMIM:211750
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... OMIM:619534
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Lateral Meningocele Syndrome
Ventricular septal defect, Decreased muscle mass, Bicuspid aortic valve OMIM:130720
Chops Syndrome
Splenomegaly, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary venous return OMIM:616368
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalous pulmonary ve... OMIM:190685
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... ORPHA:508498
Mckusick-Kaufman Syndrome
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart ORPHA:2473
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Macroglossia, Pulmonic stenosis, Atrial septal defect OMIM:614609
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Intracranial hemorrhage, Atrial septal defect, Ventricular septal defect, Heart murmur ORPHA:163979
Lateral Meningocele Syndrome
Ventricular septal defect ORPHA:2789
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm... ORPHA:466791
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension, Flexion contracture, Camptodactyly OMIM:620029
Marden-Walker Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... ORPHA:2461
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Increased nuchal translucency, Ventricular septal defect ORPHA:79345
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios OMIM:600373
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Polyhydramnios, Cardiomegaly, Congenital diaphragmatic hernia, Spl... ORPHA:116
Duane-Radial Ray Syndrome
Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep... OMIM:607323
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect OMIM:619306
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia ORPHA:268249
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... OMIM:143095
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Ventricular septal defect, Patent foramen ovale, Congenital diap... OMIM:618454
Costello Syndrome
Ventricular septal defect, Polyhydramnios, Rhabdomyosarcoma, Achilles tendon contracture, Mitral ... OMIM:218040
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect, Oligohydramnios OMIM:619229
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ... ORPHA:2162
3Mc Syndrome 1
Conjunctival telangiectasia, Atrial septal defect, Ventricular septal defect, Diastasis recti OMIM:257920
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe... ORPHA:904
Mosaic Trisomy 16
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology ORPHA:1708
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Ventricular septal defect OMIM:619575
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Aortic valve stenos... ORPHA:464306
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Marshall-Smith Syndrome
Ventricular septal defect, Premature ventricular contraction, Hypertension, Atrial septal defect,... OMIM:602535
Chromosome 14Q11-Q22 Deletion Syndrome
Macroglossia, Ventricular septal defect, Patent foramen ovale OMIM:613457
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Muscle hypertrophy of the lower extrem... ORPHA:1772
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Generalized muscle hypertrophy, Skeletal muscle ... OMIM:139210
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Camptodactyly of finger, Mac... ORPHA:261337
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... OMIM:249420
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Macroglossia, Distal arthr... OMIM:618268
Feingold Syndrome 1
Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis, Polyhydramnios OMIM:164280
Trichothiodystrophy
Cardiomyopathy, Multiple joint contractures, Ventricular septal defect ORPHA:33364
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu... ORPHA:97360
Opitz Gbbb Syndrome
Enlarged ovaries, Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal heart morp... ORPHA:2745
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, Hepatomegaly, Ventricular septal defect OMIM:214100
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Atrial septa... ORPHA:3380
Okamoto Syndrome
Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal... ORPHA:2729
Phace Association
Ventricular septal defect OMIM:606519
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Facial palsy, Polyhydramnios, Camptodactyly, Atrial septal defect, Joi... OMIM:300373
Opitz Gbbb Syndrome
Ventricular septal defect OMIM:300000
7Q11.23 Microduplication Syndrome
Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Congenital diaphragmatic ... ORPHA:96121
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Abnormal heart morphology, Macroglossia, Pul... ORPHA:444077
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, A... OMIM:105650
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:251014
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Calcinosis ORPHA:94089
Hardikar Syndrome
Hepatomegaly, Ventricular septal defect, Portal hypertension, Hematemesis, Splenomegaly, Partial ... OMIM:301068
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect OMIM:244450
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... OMIM:157800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... ORPHA:353281
Velocardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:192430
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ... OMIM:301043
De Barsy Syndrome
Decreased muscle mass, Ventricular septal defect ORPHA:2962
Fryns Syndrome
Ventricular septal defect, Polyhydramnios, Stillbirth, Aplasia of the left hemidiaphragm, Chyloth... OMIM:229850
Coffin-Siris Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology ORPHA:1465
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Edema of the ... OMIM:274000
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Ventricular septal defect, Pedal edema, Mitral valve prolapse OMIM:617107
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... ORPHA:352665
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... OMIM:271640
Fanconi Anemia, Complementation Group C
Flexion contracture, Ventricular septal defect OMIM:227645
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension, Calcinosis, Abnormal platelet function ORPHA:79443
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... OMIM:210710
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Poly... ORPHA:567
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Ventricular septal defect OMIM:600460
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Flexion contracture, Intracranial hemorrhage, Anasarca, Camp... ORPHA:86309
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal... ORPHA:1507
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... ORPHA:363958
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect OMIM:300712
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Splenomegaly, Hepatomegaly, Ventricular septal defect, Weakness of facial musculature OMIM:619418
Hajdu-Cheney Syndrome
Hepatomegaly, Ventricular septal defect, Mitral stenosis, Splenomegaly, Aortic valve stenosis ORPHA:955
Congenital Tracheal Stenosis
Ventricular septal defect, Fetal ascites, Polyhydramnios, Hypoplastic left heart, Oligohydramnios ORPHA:141127
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Pallister-Hall Syndrome
Neonatal death, Ventricular septal defect OMIM:146510
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... ORPHA:500095
Jacobsen Syndrome
Atrial septal defect, Flexion contracture, Ventricular septal defect OMIM:147791
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Joint contracture of the hand, Transposition of the grea... OMIM:280000
Keutel Syndrome
Hypertension, Ventricular septal defect, Pulmonic stenosis OMIM:245150
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Polyhydramnios OMIM:618846
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Atrial septal defect, Atriove... ORPHA:3047
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Limb Body Wall Complex
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph... ORPHA:2369
Degcags Syndrome
Hepatomegaly, Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, ... OMIM:619488
Noonan Syndrome 1
Ventricular septal defect, Lymphedema, Chylothorax, Pulmonic stenosis, Atrial septal defect, Hype... OMIM:163950
Jacobsen Syndrome
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart ORPHA:2308
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Flexion contracture, Double outlet right ventricle, Mitr... OMIM:300166
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Facial hypotonia, Polyhydramnios, Congenital diaphragmat... OMIM:312870
Neu-Laxova Syndrome 1
Ventricular septal defect, Polyhydramnios, Stillbirth, Transposition of the great arteries, Campt... OMIM:256520
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Upper limb amyotrophy, Upper eyelid ede... OMIM:616268
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Diamond-Blackfan Anemia
Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Atrial septal de... ORPHA:124
Zttk Syndrome
Aortic regurgitation, Atrial septal defect, Flexion contracture, Ventricular septal defect OMIM:617140
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Hypertension, Hy... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Hypertension, Hy... ORPHA:99228
Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Hypertension, Hy... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Hypertension, Hy... ORPHA:881
Cerebrocostomandibular Syndrome
Ventricular septal defect ORPHA:1393
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis ORPHA:79444
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Polyhydramnios ORPHA:436252
Alzahrani-Kuwahara Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement OMIM:619268
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ... OMIM:613458
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, O... ORPHA:508488
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios OMIM:608670
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect OMIM:181450
Cornelia De Lange Syndrome 1
Elbow flexion contracture, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:122470
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hypertension, Atrial septal defect, Hypert... OMIM:270400
Esophageal Atresia
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios ORPHA:1199
Larsen Syndrome
Atrial septal defect, Ventricular septal defect OMIM:150250
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... ORPHA:353277
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Increased nuchal tran... ORPHA:818
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Ventricular septal defect, Mitral atresia, Portal hypertension, Fetal ascites, M... OMIM:619503
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly OMIM:616145
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Polyhydramn... ORPHA:96334
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed... OMIM:619475
Microphthalmia, Syndromic 3
Ventricular septal defect OMIM:206900
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... OMIM:301044
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Ventricular septal defect, Splenomegaly, Prolonged prothrombin time, Tetralogy of F... OMIM:619525
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Patent foramen ovale OMIM:616975
Cerebrocostomandibular Syndrome
Atrial septal defect, Ventricular septal defect, Elbow flexion contracture, Polyhydramnios OMIM:117650
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... ORPHA:438213
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Hydrolethalus Syndrome 1
Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Stillbirth, Ag... OMIM:236680
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Lower-limb joint... ORPHA:459070
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:154400
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep... OMIM:309500
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale OMIM:613884
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Polyhydramnios, Flexion contracture, Mitral valve prolapse, Perimembra... OMIM:180849
Hajdu-Cheney Syndrome
Ventricular septal defect OMIM:102500
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Omodysplasia 1
Atrial septal defect, Ventricular septal defect OMIM:258315
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Flexion contracture, Mitra... OMIM:194050
Mowat-Wilson Syndrome
Ventricular septal defect, Generalized muscle hypertrophy, Abnormal heart morphology, Pulmonic st... OMIM:235730
Alagille Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:118450
Early Infantile Epileptic Encephalopathy
Ventricular septal defect ORPHA:1934
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Splenomegal... OMIM:243800
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Ventricula... OMIM:619472
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Penile Agenesis
Atrial septal defect, Ventricular septal defect, Oligohydramnios ORPHA:49
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hematemesis, Dehydration, Melena, Hypertension ORPHA:652
Charge Syndrome
Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... OMIM:214800
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Ventricular septal defect ORPHA:513456
Vater/Vacterl Association
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries OMIM:192350
Orofaciodigital Syndrome Type 14
Ventricular septal defect ORPHA:434179
Wolf-Hirschhorn Syndrome
Atrial septal defect, Decreased muscle mass, Ventricular septal defect OMIM:194190
Genitopatellar Syndrome
Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Atrial sept... OMIM:606170
Peters-Plus Syndrome
Ventricular septal defect, Diastasis recti, Polyhydramnios, Pulmonic stenosis, Atrial septal defect OMIM:261540
Orofaciodigital Syndrome Xiv
Atrial septal defect, Ventricular septal defect OMIM:615948
Proboscis Lateralis
Ventricular septal defect ORPHA:141099
Coffin-Siris Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic he... OMIM:135900
Cornelia De Lange Syndrome
Atrial septal defect, Increased nuchal translucency, Ventricular septal defect, Congenital diaphr... ORPHA:199
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Elbow flexion contracture, ... OMIM:268300
Pallister-Hall Syndrome
Ventricular septal defect, Distal arthrogryposis, Atrial septal defect, Atrioventricular canal de... ORPHA:672
Digeorge Syndrome
Splenomegaly, Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:188400
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:147920
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardiomyopathy, Pulmona... OMIM:216340
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect OMIM:620330
Sotos Syndrome
Hip contracture, Ventricular septal defect, Ankle flexion contracture, Bilateral camptodactyly, F... ORPHA:821
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Ventricular septal defect OMIM:619522
Townes-Brocks Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Flexion co... ORPHA:261552
Pallister-Killian Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic ... OMIM:601803
Craniofacial Microsomia 1
Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of facial musculature OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mir1a-2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mir1a-2.

No publications found that use IMPC mice or data for Mir1a-2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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