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Gene: Bicra MGI:2154263

Gene Summary

Name:

BRD4 interacting chromatin remodeling complex associated protein

Synonyms:

Gltscr1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Bicra^em1(IMPC)J	HOM	Early adult	0.00
abnormal body wall morphology	Bicra^em1(IMPC)J	HOM	E18.5	0.00
increased mean corpuscular hemoglobin	Bicra^em1(IMPC)J	HET	Early adult	1.50×10^-07
increased mean corpuscular volume	Bicra^em1(IMPC)J	HET	Early adult	6.74×10^-05
abnormal tail morphology	Bicra^em1(IMPC)J	HOM	E18.5	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

4 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Bicra 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.

Human diseases associated with Bicra (1 diseases)
Human diseases predicted to be associated with Bicra (776 diseases)

The table below shows human diseases associated to Bicra by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Coffin-Siris Syndrome 12		Heart murmur, Tetralogy of Fallot, Patent foramen ovale, Short stature	OMIM:619325

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

Disease	Matching phenotypes	Source
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Eng-Strom Syndrome	Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect, S...	ORPHA:1937
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo...	OMIM:615779
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Sonoda Syndrome	Ventricular septal defect, Short stature	OMIM:270460
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Microcephaly-Cardiomyopathy Syndrome	Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect, Short stature	ORPHA:2515
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Intraut...	OMIM:616276
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Scimitar Syndrome	Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a...	ORPHA:185
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Tetralogy Of Fallot	Intrauterine growth retardation, Tetralogy of Fallot	ORPHA:3303
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Mesoaxial Hexadactyly And Cardiac Malformation	Short stature, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial sep...	OMIM:249670
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia	OMIM:615234
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Growth delay, ...	OMIM:179613
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila...	ORPHA:2041
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport...	ORPHA:1354
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Short stature, Double outlet right ventricle, Heart murmu...	ORPHA:3426
Feingold Syndrome 2	Postnatal growth retardation, Ventricular septal defect, Short stature	OMIM:614326
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth...	OMIM:620135
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Feingold Syndrome Type 2	Ventricular septal defect, Short stature	ORPHA:391646
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Short stature, Thoracic aortic aneurysm, Patent ductus a...	OMIM:619657
Fetal Minoxidil Syndrome	Umbilical hernia, Ventricular septal defect	ORPHA:1918
Adams-Oliver Syndrome 4	Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Short stature, Anomalous origin of left coronary artery from the pulmonary ...	ORPHA:2326
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate...	OMIM:270100
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Muscular Dystrophy, Becker Type	Cardiomyopathy, Arrhythmia, Abnormal EKG	OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Lambert Syndrome	Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Grange Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp...	ORPHA:79094
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Fetal Trimethadione Syndrome	Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin...	ORPHA:1913
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Nemaline Myopathy 9	Ventricular septal defect, Polyhydramnios	OMIM:615731
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect...	OMIM:618316
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At...	OMIM:306955
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Short stature, Congestive heart failure, Paroxysmal at...	ORPHA:49827
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej...	OMIM:612422
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Short stature	ORPHA:1388
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Intr...	ORPHA:1923
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Short stature, Ventricular septal defect, Polyhydramnios, Abnormal left ventricular function, Pul...	OMIM:301056
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S...	OMIM:126320
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Disproportion...	ORPHA:2772
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy...	ORPHA:300298
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Nathalie Syndrome	Growth delay, Abnormal EKG	OMIM:255990
Weill-Marchesani Syndrome	Short stature, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Aortic valve s...	ORPHA:3449
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Intrauterine growth retardation, Truncus arteriosus, Abnormal aortic morphology, Ventricular sept...	ORPHA:2516
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu...	ORPHA:99050
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu...	ORPHA:45452
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Short stature, Atrial septal defect, Tetralog...	OMIM:612946
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora...	ORPHA:980
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Short Stature, Developmental Delay, And Congenital Heart Defects	Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d...	OMIM:617044
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper...	OMIM:613243
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus...	OMIM:601927
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn...	ORPHA:563
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Short stature	OMIM:618330
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Patent ductus arteriosus, Growth delay, Atrial septal defect, Double outlet right ...	OMIM:614886
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Li-Campeau Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Patent ...	OMIM:619189
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis	OMIM:618624
Congenital Aortic Valve Stenosis	Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Isolated Dandy-Walker Malformation	Encephalocele, Tetralogy of Fallot	ORPHA:217
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Cardiomegaly, Right ventricular failure, Complete...	ORPHA:1329
Lambotte Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:245552
Tyshchenko Syndrome	Short stature, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect...	OMIM:615102
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial ...	OMIM:249270
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Short stature, Abnormal aortic morphology	ORPHA:1166
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra...	OMIM:618775
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ...	ORPHA:3405
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida	ORPHA:2476
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Ventricular septal defect	OMIM:601355
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Filippi Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect	OMIM:272440
Noonan Syndrome 8	Ventricular septal defect, Short stature, Polyhydramnios, Patent ductus arteriosus, Pleural effus...	OMIM:615355
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Atrial septal defec...	OMIM:618142
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Intellectual Developmental Disorder, Autosomal Dominant 47	Intrauterine growth retardation, Increased nuchal translucency, Ventricular septal defect	OMIM:617635
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Warsaw Breakage Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Tetralogy of Fallot, Ventricular s...	OMIM:613398
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Congenital Rubella Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Intraut...	ORPHA:290
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Wolcott-Rallison Syndrome	Short stature, Dehydration, Growth delay, Atrial septal defect, Double outlet right ventricle, As...	ORPHA:1667
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios...	ORPHA:363705
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Joubert Syndrome 18	Occipital encephalocele, Ventricular septal defect, Intrauterine growth retardation	OMIM:614815
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria...	OMIM:618652
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Cardiofaciocutaneous Syndrome 3	Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic c...	OMIM:615279
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Postnatal growth retardation, Ventricular septal defect, Short stature	ORPHA:3369
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Large placenta, Abnormal...	ORPHA:254534
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Meningocele, Ane...	ORPHA:1908
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Short stature, Pulmonary artery stenosis, Atrial septal defect, Intrau...	ORPHA:75389
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventric...	OMIM:619909
Microphthalmia, Syndromic 9	Severe short stature, Ventricular septal defect, Short stature, Patent ductus arteriosus, Hypopla...	OMIM:601186
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Roifman Syndrome	Noncompaction cardiomyopathy, Ventricular septal defect, Short stature, Postnatal growth retardat...	OMIM:616651
8P23.1 Microdeletion Syndrome	Short stature, Patent ductus arteriosus, Pulmonary artery stenosis, Growth delay, Hypertrophic ca...	ORPHA:251071
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Ventricular septal defect, Short stature, Coarctation of aorta	OMIM:620210
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle morphology, Paten...	ORPHA:2306
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Atrial septal defect, Intraut...	OMIM:611134
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, Short stature	OMIM:314320
Down Syndrome	Ventricular septal defect, Short stature, Complete atrioventricular canal defect, Patent ductus a...	OMIM:190685
Verheij Syndrome	Branchial cyst, Ventricular septal defect, Short stature, Growth delay, Intrauterine growth retar...	OMIM:615583
Transaldolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial...	OMIM:606003
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste...	OMIM:617478
Phaver Syndrome	Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo...	ORPHA:2876
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Short stature, Double outlet right ventricle with doubly c...	ORPHA:1596
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial...	OMIM:608978
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect	OMIM:613870
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural effusion, Bra...	ORPHA:330001
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:607598
Noonan Syndrome 9	Short stature, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Serkal Syndrome	Growth delay, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios	ORPHA:139466
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Increased nuch...	OMIM:615668
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Umbilical hernia, Int...	OMIM:617751
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios	OMIM:263630
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Pleural effusion, Intra...	OMIM:616897
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic dissection, ...	ORPHA:397
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Abnormal vena cava morphology, Double outlet...	ORPHA:163956
22Q11.2 Duplication Syndrome	Ventricular septal defect, Growth delay, Hypoplastic left heart, Transposition of the great arter...	ORPHA:1727
Adams-Oliver Syndrome 6	Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension	OMIM:616589
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Hypertrophic cardiomyopath...	OMIM:612938
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Filippi Syndrome	Severe short stature, Ventricular septal defect, Short stature, Growth delay, Intrauterine growth...	ORPHA:3255
Seckel Syndrome 9	Ventricular septal defect, Short stature, Polyhydramnios, Pulmonary artery hypoplasia, Atrial sep...	OMIM:616777
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect	OMIM:613730
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte...	OMIM:600001
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Cardiomyopathy, Abnormal EKG	ORPHA:1177
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Intrauterine growth r...	OMIM:617022
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short stature, Paroxysmal supraventricular tachycardia, Perimembranous ventricular septal defect,...	OMIM:617877
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Neurodevelopmental Disorder With Language Delay And Seizures	Growth delay, Ventricular septal defect	OMIM:619908
Keutel Syndrome	Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect, Short stature	ORPHA:85202
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short stature, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outlet r...	OMIM:618223
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Palpitations, Atrial ...	ORPHA:2847
Desbuquois Syndrome	Severe short stature, Ventricular septal defect, Disproportionate short-limb short stature	ORPHA:1425
Ververi-Brady Syndrome	Intrauterine growth retardation, Short stature, Transposition of the great arteries	OMIM:617982
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric...	ORPHA:97214
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Short stature, Rhizomelia, Coarctation of aorta,...	OMIM:614114
Diabetic Embryopathy	Ventricular septal defect, Spinal dysraphism, Abnormal aortic morphology, Transposition of the gr...	ORPHA:1926
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Proportionate short stature	OMIM:609654
Acrocardiofacial Syndrome	Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Intrauter...	ORPHA:2008
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,...	OMIM:620113
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Growth delay, At...	OMIM:249420
Inverted Duplicated Chromosome 15 Syndrome	Growth delay, Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ...	ORPHA:3097
Congenital Disorder Of Glycosylation, Type Iil	Peau d'orange, Ventricular septal defect, Patent ductus arteriosus, Growth delay, Atrial septal d...	OMIM:614576
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Short stature, Secundum atrial septal defect, Coarctation of aorta, Pe...	OMIM:600987
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Ventricular septal defect	ORPHA:93267
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Intrauterine growth retardation, Pulmonary artery stenosis, Ventricular septal defect, Oligohydra...	OMIM:611812
Transketolase Deficiency	Ventricular septal defect, Proportionate short stature, Abnormal coronary artery course, Patent d...	ORPHA:488618
19P13.3 Microduplication Syndrome	Growth delay, Intrauterine growth retardation, Ventricular septal defect, Pulmonary arterial hype...	ORPHA:447980
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:500159
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ...	ORPHA:2255
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Short stature	OMIM:617450
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature	OMIM:617452
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Ventricular septal defect, Abnorma...	ORPHA:494344
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Short stature, Heart murmur, Abnormal vena cava morphology, Intrauteri...	ORPHA:166035
Diamond-Blackfan Anemia 5	Ventricular septal defect, Short stature	OMIM:612528
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc...	ORPHA:2331
Emanuel Syndrome	Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atria...	OMIM:609029
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Short stature, Postnatal growth reta...	ORPHA:7
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect	ORPHA:398156
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect, Short stature	OMIM:218350
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Tricuspid regurgitation, Ventricular septal defect, Short stature, Patent ductus arteriosus, Incr...	OMIM:618870
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Short stature, Dextrotransposition of the great arteries	OMIM:619995
Thakker-Donnai Syndrome	Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Transposition of...	ORPHA:1780
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Abnormal heart mo...	OMIM:618494
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Short stature, Patent ductus arteriosus, Increased nu...	OMIM:616564
Pyruvate Dehydrogenase E1-Alpha Deficiency	Intrauterine growth retardation, Ventricular septal defect	ORPHA:79243
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Insulin-Like Growth Factor I, Resistance To	Severe short stature, Ventricular septal defect, Short stature, Growth delay, Atrial septal defec...	OMIM:270450
Trisomy 13	Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Atrial septal defect, Intra...	ORPHA:3378
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine growth retardation, ...	OMIM:609053
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Short stature, Patent foramen o...	OMIM:618027
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Intraute...	OMIM:300514
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Intr...	ORPHA:254346
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card...	ORPHA:26793
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Transposition of the great arteries, Neonatal death, Atrioventricul...	OMIM:314390
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio...	ORPHA:85443
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Short stature	ORPHA:505237
Alagille Syndrome	Ventricular septal defect, Telangiectasia of the skin, Hypertension, Delayed puberty, Atrial sept...	ORPHA:52
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Short stature, Atrial septal defect, Patent foramen ovale, Right ventr...	OMIM:614261
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great arteries, Subval...	OMIM:280000
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida	ORPHA:2345
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, U...	OMIM:615879
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short stature, Polyh...	OMIM:605275
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Short stature	OMIM:608572
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Prune Belly Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, O...	ORPHA:2970
Woods Syndrome	Ventricular septal defect	OMIM:615236
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect, Anterior encephalocele	OMIM:601357
Short Stature-Micrognathia Syndrome	Intrauterine growth retardation, Rhizomelia, Ventricular septal defect, Short stature	OMIM:617164
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect	ORPHA:40366
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect	OMIM:619769
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Short stature, Growth delay, Coronary artery fistula, Ab...	OMIM:614294
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect, Short stature, Edema	OMIM:618348
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Cat Eye Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Hypoplastic left heart, Total...	OMIM:115470
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect, Polyhydramnios	ORPHA:2256
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Short stature, Congestive heart failur...	OMIM:601808
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Short stature, Sudden cardiac death, Cardiomegaly, Dilate...	OMIM:614921
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Short stature	ORPHA:261190
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Neonatal death, Atrial septal defe...	OMIM:265380
Cooper-Jabs Syndrome	Umbilical hernia, Ventricular septal defect, Short stature	ORPHA:1488
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Ogden Syndrome	Ventricular septal defect, Postnatal growth retardation, Pulmonary artery stenosis, Cardiogenic s...	ORPHA:276432
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Kapur-Toriello Syndrome	Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept...	OMIM:244300
Emanuel Syndrome	Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Growth delay, Pulmonic s...	ORPHA:96170
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Short stature, Abnormal heart morphology, Umbilical hernia, Patent for...	ORPHA:369891
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductus arteriosus, ...	ORPHA:96191
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Vascular ring	OMIM:603387
Braddock-Carey Syndrome 1	Growth delay, Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Aortic root aneurysm	OMIM:301039
Donnai-Barrow Syndrome	Umbilical hernia, Ventricular septal defect	ORPHA:2143
King-Denborough Syndrome	Ventricular septal defect, Short stature	OMIM:619542
Congenital Sialidosis Type 2	Abnormal EKG, Edema, Telangiectasia, Abnormal heart morphology, Umbilical hernia, Cherry red spot...	ORPHA:93400
Spondylo-Ocular Syndrome	Ventricular septal defect, Short stature, Disproportionate short-trunk short stature	ORPHA:85194
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Retinal hemorrhage, Growth delay, Hypertension, Bradycard...	OMIM:614653
Pelger-Huet Anomaly	Umbilical hernia, Mild short stature, Ventricular septal defect	OMIM:169400
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Short stature, Patent ductus arteriosus, Hypoplastic aor...	OMIM:300166
Dextrocardia	Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion, ...	ORPHA:1666
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Umbili...	OMIM:612582
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla...	OMIM:618280
19Q13.11 Microdeletion Syndrome	Growth delay, Intrauterine growth retardation, Ventricular septal defect	ORPHA:217346
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Polyhydra...	ORPHA:99776
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Atrial ...	OMIM:617159
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction...	ORPHA:268
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Short stature, Coarctation of aorta, Aortic root aneurysm, Atrial sept...	OMIM:617602
Mosaic Trisomy 16	Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnormal heart morphology, C...	ORPHA:1708
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Dilation of Virchow-Robin spaces, Ventricular septal defect, Short stature, Polyhydramnios, Pulmo...	OMIM:300998
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Umbilical hernia, Ventricular septal defect, Short stature	ORPHA:1770
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Growth delay, Abnormal cardiac se...	ORPHA:96147
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Ventricular septal defect, Short stature, Polyhydramnios, Atrial septal defect, Intrauterine grow...	OMIM:617360
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At...	OMIM:619472
Carpenter Syndrome 1	Ventricular septal defect, Short stature, Patent ductus arteriosus, Tetralogy of Fallot, Transpos...	OMIM:201000
Noonan Syndrome 4	Short stature, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect...	OMIM:610733
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Short stature	OMIM:615630
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Meningocele, Growth delay, Intracranial hemorrhage, Hyp...	OMIM:614424
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:310200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Mild postnatal growth retardation, Nonim...	OMIM:235510
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect, Short stature	OMIM:616901
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Coarctation of aort...	OMIM:600460
Heart And Brain Malformation Syndrome	Growth delay, Polyhydramnios, Ventricular septal defect, Interrupted aortic arch	OMIM:616920
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Ventricular septal defect	OMIM:610832
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Intrauterine growth retardation, Ventricular septal defect, Polyhydramnios	OMIM:243150
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth delay, Atrial septal d...	ORPHA:457193
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Short stature, Ventricular septal defect, Shortened PR interval, ...	OMIM:614947
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Costello Syndrome	Short stature, Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosi...	ORPHA:3071
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Syndromic Diarrhea	Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Short stature, Patent duc...	ORPHA:84064
Pentalogy Of Cantrell	Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, Atrial se...	ORPHA:1335
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Periventricular Nodular Heterotopia 7	Ventricular septal defect	OMIM:617201
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect, Short stature	OMIM:618325
Velocardiofacial Syndrome	Ventricular septal defect, Short stature, Interrupted aortic arch, Pulmonary artery atresia, Umbi...	OMIM:192430
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect, Short stature	ORPHA:52055
Kagami-Ogata Syndrome	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:608149
Codas Syndrome	Ventricular septal defect, Short stature	ORPHA:1458
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Kury-Isidor Syndrome	Growth delay, Ventricular septal defect	OMIM:619762
Severe X-Linked Intellectual Disability, Gustavson Type	Severe postnatal growth retardation, Ventricular septal defect	ORPHA:3078
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Pulmonary arte...	OMIM:300963
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Cerebrocostomandibular Syndrome	Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranence...	ORPHA:1393
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect, Patent foramen ova...	OMIM:208085
Dysosteosclerosis	Ventricular septal defect, Short stature	ORPHA:1782
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Branchial fistula, Ventricular septal defect, Short stature, Growth delay, ...	ORPHA:261330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept...	ORPHA:2519
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Ventricular septal defect, Vascular dilatation	OMIM:219730
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Short stature	OMIM:145420
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Short stature, Patent ductus arteriosus, Pulmonic sten...	OMIM:614609
Myopathy With Extrapyramidal Signs	Growth delay, Ventricular septal defect	OMIM:615673
Charge Syndrome	Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Postn...	OMIM:214800
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect	ORPHA:452
Gm1 Gangliosidosis	Ventricular septal defect, Short stature, Congestive heart failure, Patent ductus arteriosus, Hyd...	ORPHA:354
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse...	OMIM:121050
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Short-Rib Thoracic Dysplasia 12	Ventricular septal defect, Edema, Polyhydramnios, Patent ductus arteriosus, Anencephaly, Neonatal...	OMIM:269860
Noonan Syndrome 3	Ventricular septal defect, Short stature, Polyhydramnios, Patent ductus arteriosus, Mitral valve ...	OMIM:609942
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Short stature, Polyhydramnios, Patent ductus ...	OMIM:617506
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor...	ORPHA:435638
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Aortic...	OMIM:610443
De Barsy Syndrome	Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,...	ORPHA:2962
Craniofacioskeletal Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Interrupted aortic arch, Atri...	OMIM:300712
Trisomy 1Q	Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosu...	ORPHA:261344
Weill-Marchesani Syndrome 1	Short stature, Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, ...	OMIM:277600
Mckusick-Kaufman Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Hypoplastic left heart, Atria...	ORPHA:2473
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Short stature, Cardiomegaly, Patent ductus arteriosus, Mitral valve pr...	OMIM:602782
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C...	OMIM:264480
Bohring-Opitz Syndrome	Ventricular septal defect, Short stature, Polyhydramnios, Mesomelic/rhizomelic limb shortening, A...	OMIM:605039
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Portal hypertension, Fetal ascites, Ascending aorta hy...	OMIM:619503
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Short stature, Pulmonary artery stenosis, Pulmonary valve atresia, Gro...	OMIM:301030
X Small Rings	Ventricular septal defect, Bicuspid aortic valve, Growth delay, Aortic root aneurysm, Mitral sten...	ORPHA:96201
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Ventricular septal defect, Short stature, Polyhydramnios, Large placenta, P...	OMIM:222470
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ...	OMIM:253800
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hyper...	OMIM:100300
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Short stature, Patent ductus arteriosus, Coronary artery fistula, Neon...	OMIM:620024
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Short stature, Pulmonary artery stenosis, Coarc...	ORPHA:261494
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Mening...	OMIM:130720
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Pancreatic lymph...	OMIM:235255
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect, Short stature	OMIM:300472
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect, Short stature	OMIM:610536
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Ventricular septal defect	OMIM:234050
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Short stature	ORPHA:96097
Coffin-Siris Syndrome	Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Abnormal heart...	ORPHA:1465
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep...	OMIM:158170
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricular tachy...	OMIM:300855
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Polyhydramnios, Ventricular septal defect, Short stature	OMIM:615503
Diamond-Blackfan Anemia 10	Growth delay, Patent ductus arteriosus, Ventricular septal defect, Short stature	OMIM:613309
Thoracoabdominal Syndrome	Patent ductus arteriosus, Ectopia cordis, Anencephaly, Transposition of the great arteries	OMIM:313850
Cohen Syndrome	Ventricular septal defect, Short stature, Mitral valve prolapse, Delayed puberty, Intrauterine gr...	ORPHA:193
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Birth ...	ORPHA:464311
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:619123
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Proportionate short stature, Postnatal growth retardation, Patent duct...	ORPHA:79345
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Short stature, Junctional ectopic tachycardia, Atria...	OMIM:309801
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:457279
Weill-Marchesani Syndrome 2	Short stature, Ventricular septal defect, Proportionate short stature, Congestive heart failure, ...	OMIM:608328
Rabson-Mendenhall Syndrome	Ventricular septal defect, Short stature, Cardiomyopathy, Severe postnatal growth retardation, At...	ORPHA:769
Distal Deletion 19P	Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Tetraamelia Syndrome 2	Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Pancreatic lymphangiecta...	ORPHA:1655
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Short stature, Growth delay, Abnormal cardiac septum morphology, Atria...	ORPHA:209905
Loeys-Dietz Syndrome 5	Ventricular septal defect, Short stature, Growth delay, Mitral regurgitation, Aortic root aneurys...	OMIM:615582
Recombinant 8 Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def...	ORPHA:96167
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ...	OMIM:123700
Trisomy 18	Ventricular septal defect, Short stature, Spina bifida, Anencephaly, Growth delay, Atrial septal ...	ORPHA:3380
Neu-Laxova Syndrome 1	Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Sh...	OMIM:256520
Chops Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Anomalous pulmonary venous re...	OMIM:616368
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Mitral ...	ORPHA:444072
Mgat2-Cdg	Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ...	ORPHA:79329
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula...	OMIM:613001
Den Hoed-De Boer-Voisin Syndrome	Intrauterine growth retardation, Ventricular septal defect, Oligohydramnios	OMIM:619229
Mosaic Trisomy 20	Abnormal mitral valve morphology, Intrauterine growth retardation, Dysplastic tricuspid valve, Ve...	ORPHA:1724
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Short stature, Paten...	OMIM:616894
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Short stature, Bicuspid aortic valve, Patent ductus arteriosus, Pulmon...	OMIM:610759
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Short stature	OMIM:612530
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Heart ...	OMIM:614866
C Syndrome	Patent ductus arteriosus, Ventricular septal defect, Short stature	OMIM:211750
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Pallister-Hall Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Preductal coarctation of the ...	OMIM:146510
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect	OMIM:616449
Meier-Gorlin Syndrome 7	Ventricular septal defect, Short stature, Heart block, Complete atrioventricular canal defect, Gr...	OMIM:617063
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Ventricular septal defect, Short stature	OMIM:227645
Renal Agenesis	Hypertension, Ventricular septal defect, Oligohydramnios	ORPHA:411709
Myhre Syndrome	Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Coarcta...	OMIM:139210
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P...	OMIM:192350
Leigh Syndrome	Ventricular septal defect, Congestive heart failure, Growth delay, Intrauterine growth retardatio...	ORPHA:506
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal...	ORPHA:508498
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Short stature	ORPHA:261236
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Sotos Syndrome	Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s...	OMIM:117550
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Coarctat...	OMIM:616145
3Mc Syndrome 1	Conjunctival telangiectasia, Ventricular septal defect, Postnatal growth retardation, Patent duct...	OMIM:257920
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Ventricular septal defect, Short stature, Patent ductus arteriosus, Intraut...	ORPHA:464306
Combined Immunodeficiency-Enteropathy Spectrum	Intrauterine growth retardation, Ventricular septal defect, Polyhydramnios	ORPHA:436252
Zellweger Syndrome	Ventricular septal defect, Short stature	ORPHA:912
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect	OMIM:309520
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Ulnar-Mammary Syndrome	Arrhythmia, Ventricular septal defect, Short stature, Delayed puberty	ORPHA:3138
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal aortic arch morphology, Atrial septal defect, Short stature, Spina bifid...	ORPHA:567
Larsen Syndrome	Ventricular septal defect, Short stature, Atrial septal defect, Intrauterine growth retardation, ...	OMIM:150250
Opitz Gbbb Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Abnormal heart morphology, Pe...	ORPHA:2745
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Congenital Tracheal Stenosis	Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct...	ORPHA:141127
Marden-Walker Syndrome	Severe short stature, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Abnormal a...	ORPHA:2461
Cerebellofaciodental Syndrome	Ventricular septal defect, Short stature, Mitral valve prolapse	OMIM:616202
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Lateral Meningocele Syndrome	Umbilical hernia, Meningocele, Ventricular septal defect	ORPHA:2789
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Heart murmur, Intracranial he...	ORPHA:163979
Donnai-Barrow Syndrome	Umbilical hernia, Ventricular septal defect	OMIM:222448
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Pulmona...	OMIM:618454
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Postnatal growth retardation, Growth delay, Perimembranous ventricular...	OMIM:301040
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Growth delay, P...	OMIM:613457
Congenital Disorder Of Glycosylation, Type Iia	Postnatal growth retardation, Ventricular septal defect, Short stature	OMIM:212066
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Doors Syndrome	Double outlet right ventricle, Spina bifida occulta, Polyhydramnios, Sirenomelia	ORPHA:79500
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Ventricular septal defect	OMIM:617798
Diets-Jongmans Syndrome	Ventricular septal defect, Short stature, Polyhydramnios, Interrupted inferior vena cava with azy...	OMIM:618846
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Short stature, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis...	OMIM:607721
Alg9-Cdg	Tricuspid regurgitation, Ventricular septal defect, Rhizomelia, Pericardial effusion, Hydrops fet...	ORPHA:79328
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Short stature	OMIM:250410
Mosaic Trisomy 1	Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Coarctation of aorta, P...	ORPHA:1692
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema	OMIM:606232
Opitz Gbbb Syndrome	Growth delay, Umbilical hernia, Ventricular septal defect	OMIM:300000
Codas Syndrome	Ventricular septal defect, Short stature, Polyhydramnios, Atrial septal defect, Atrioventricular ...	OMIM:600373
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect, Short stature	OMIM:178110
Jacobsen Syndrome	Ventricular septal defect, Short stature, Spina bifida, Coarctation of aorta, Growth delay, Hypop...	ORPHA:2308
Jacobsen Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:147791
8Q24.3 Microdeletion Syndrome	Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular...	ORPHA:508488
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Aortopulmonary win...	OMIM:620025
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu...	OMIM:619534
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Short stature, Spina bifida, Edema of the...	OMIM:274000
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Arrh...	ORPHA:1519
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect, Short stature	OMIM:272950
Trichothiodystrophy	Umbilical hernia, Ventricular septal defect, Cardiomyopathy, Intrauterine growth retardation	ORPHA:33364
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Ventricular septal defect, Ventricular septal hypertrophy, Oligo...	OMIM:608670
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Short stature, Coarctation of aorta	OMIM:244450
Hardikar Syndrome	Ventricular septal defect, Short stature, Portal hypertension, Hematemesis, Patent ductus arterio...	OMIM:301068
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Postnatal growth retardation, Ventricular septal defect	ORPHA:251028
Focal Dermal Hypoplasia	Telangiectasia of the skin, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Ab...	ORPHA:2092
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Peripheral pulmonary artery stenosis, Ventricular septal defect, Short stature	OMIM:619575
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Short stature, Coronary sinus enlargement, Pulmonary artery sling, Per...	OMIM:619268
Autosomal Recessive Robinow Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic morphology, Abnor...	ORPHA:1507
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Short stature, Patent ductus arteriosus, Intrauterine growth retardati...	OMIM:616975
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Left superior v...	ORPHA:464738
Robinow Syndrome	Ventricular septal defect, Short stature, Abnormal heart morphology, Coarctation of aorta, Pulmon...	ORPHA:97360
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Disproportionate short stature, Co...	OMIM:210710
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrops fetalis, Coarctation of aorta	ORPHA:268249
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Severe short stature, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Growth...	ORPHA:3047
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth delay, Atrial septal d...	ORPHA:96121
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Short stature, Polyhydramnios, Patent ductus arteriosus, Atrial septal...	OMIM:300373
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Dehydration, Syncope, Orthostatic syncope	ORPHA:230
Zttk Syndrome	Aortic regurgitation, Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth ...	OMIM:617140
Restrictive Dermopathy	Dextrocardia, Polyhydramnios, Large placenta, Patent ductus arteriosus, Ascending tubular aorta a...	ORPHA:1662
Hydrolethalus Syndrome 1	Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Anencephaly, S...	OMIM:236680
Holoprosencephaly	Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Spinal dysraphism,...	ORPHA:2162
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Duane-Radial Ray Syndrome	Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Vascular dilatation	OMIM:607323
3Q29 Microduplication Syndrome	Ventricular septal defect	ORPHA:251038
Yunis-Varon Syndrome	Ventricular septal defect, Short stature, Polyhydramnios, Cardiomegaly, Postnatal growth retardat...	ORPHA:3472
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent...	ORPHA:466791
Marshall-Smith Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Premature ventricular contrac...	OMIM:602535
Esophageal Atresia	Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Growth delay, Tetralogy of Fallot	ORPHA:1199
Noonan Syndrome 1	Short stature, Ventricular septal defect, Lymphedema, Postnatal growth retardation, Patent ductus...	OMIM:163950
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Short stature, Rhizomelia, Polyhydramnios, Patent ductus arteriosus, I...	ORPHA:818
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Short stature	ORPHA:251014
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Short statu...	ORPHA:268261
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect...	OMIM:143095
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Partial anomalous pulmonary venous return, Growth delay, Atrial septal...	OMIM:301044
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	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, Abnormal heart m...	ORPHA:352665
Microphthalmia, Syndromic 3	Postnatal growth retardation, Patent ductus arteriosus, Ventricular septal defect, Short stature	OMIM:206900
Oculodentodigital Dysplasia	Umbilical hernia, Arrhythmia, Ventricular septal defect	ORPHA:2710
Omodysplasia 1	Rhizomelia, Ventricular septal defect, Pulmonary artery stenosis, Disproportionate short-limb sho...	OMIM:258315
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect	OMIM:609460
Cornelia De Lange Syndrome 1	Intrauterine growth retardation, Ventricular septal defect, Short stature	OMIM:122470
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis	OMIM:263520
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Short stature, Cardiac conduction abnormality, ...	ORPHA:353281
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology...	ORPHA:904
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Pulmonic stenosis, Oligohydramnios	ORPHA:488632
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Abnormal h...	ORPHA:2369
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Short stature, Cardiac conduction abnormality, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Short stature, Cardiac conduction abnormality, ...	ORPHA:353277
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper eyelid ...	OMIM:616268
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Short stature, Muscular ventricular septal defect, Dysplastic tricuspi...	OMIM:157800
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Short stature, Spina bifida, Polyhydramnios, Postnatal growth retardat...	OMIM:180849
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Interrup...	OMIM:164280
Liver Disease, Severe Congenital	Pulmonary edema, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of ...	OMIM:619991
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Short stature, Congestive heart failure, Patent ductus arteriosus, Abn...	ORPHA:444077
Peroxisome Biogenesis Disorder 1A (Zellweger)	Patent ductus arteriosus, Ventricular septal defect	OMIM:214100
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Patent du...	ORPHA:261337
Hajdu-Cheney Syndrome	Mitral stenosis, Short stature, Ventricular septal defect, Patent ductus arteriosus, Delayed pube...	ORPHA:955
Apert Syndrome	Rhizomelic arm shortening, Overriding aorta, Ventricular septal defect	OMIM:101200
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Int...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Int...	ORPHA:363958
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect	OMIM:619306
Trichohepatoneurodevelopmental Syndrome	Patent ductus arteriosus, Ventricular septal defect, Polyhydramnios	OMIM:618268
Chromosome 13Q14 Deletion Syndrome	Growth delay, Umbilical hernia, Ventricular septal defect, Patent foramen ovale	OMIM:613884
Costello Syndrome	Ventricular septal defect, Short stature, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosi...	OMIM:218040
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Short stature, Polyhydramnios, Postnatal growth retardation, Large pla...	ORPHA:96334
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Coarctation of aorta, Growth ...	OMIM:270400
Degcags Syndrome	Tachycardia, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Persistent left...	OMIM:619488
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Ventricular septal defect, Polyhydramnios, Cardiomyop...	ORPHA:373
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Short stature, Abnormal heart morphology, Mitral valve prolapse, Mitra...	ORPHA:363700
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
Thauvin-Robinet-Faivre Syndrome	Varicose veins, Ventricular septal defect, Pedal edema, Mitral valve prolapse	OMIM:617107
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Short stature, Portal hypertension, Retinal art...	OMIM:194050
Hajdu-Cheney Syndrome	Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect, Short stature	OMIM:102500
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Short stature	OMIM:154400
Cerebrocostomandibular Syndrome	Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Patent ductus arteriosus...	OMIM:117650
Friedreich Ataxia 2	Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge...	OMIM:601992
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Pulmonary artery...	ORPHA:459070
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Palpebral edema, Congesti...	OMIM:619475
Alagille Syndrome 1	Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def...	OMIM:118450
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar...	OMIM:612474
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Severe short stature, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation, Atr...	OMIM:271640
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v...	ORPHA:500095
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Growth delay, Ventricular septal defect	OMIM:619418
Renpenning Syndrome 1	Ventricular septal defect, Short stature, Situs inversus totalis, Atrial septal defect, Tetralogy...	OMIM:309500
Johanson-Blizzard Syndrome	Ventricular septal defect, Short stature, Portal hypertension, Situs inversus totalis, Dilated ca...	OMIM:243800
Fryns Syndrome	Ventricular septal defect, Polyhydramnios, Stillbirth, Chylothorax, Atrial septal defect	OMIM:229850
Keutel Syndrome	Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Peripher...	OMIM:245150
Coffin-Siris Syndrome 1	Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,...	OMIM:135900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Short stature, Anomalous origin of left subclav...	ORPHA:438213
Femoral-Facial Syndrome	Truncus arteriosus, Short stature, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect, Short stature	OMIM:619727
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:613458
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art...	OMIM:607872
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Ventricular septal defect, Short stature, Patent ductus arteriosus, Growth delay, Atrial septal d...	OMIM:619522
Wolf-Hirschhorn Syndrome	Ventricular septal defect, Short stature, Growth delay, Severe postnatal growth retardation, Atri...	OMIM:194190
Peters-Plus Syndrome	Ventricular septal defect, Rhizomelia, Polyhydramnios, Postnatal growth retardation, Patent ductu...	OMIM:261540
Carpenter Syndrome 2	Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transpos...	OMIM:614976
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Digeorge Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Interrupted aortic arch, Umbi...	OMIM:188400
Mowat-Wilson Syndrome	Short stature, Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmo...	OMIM:235730
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Short stature	OMIM:259770
Cornelia De Lange Syndrome	Ventricular septal defect, Short stature, Increased nuchal translucency, Severe postnatal growth ...	ORPHA:199
Early Infantile Epileptic Encephalopathy	Umbilical hernia, Ventricular septal defect	ORPHA:1934
Pallister-Hall Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Oligohydramnios, Coarctation ...	ORPHA:672
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Cardiomyopathy, Total anomal...	OMIM:312870
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Patent ductus arteriosus...	OMIM:268300
Kabuki Syndrome 1	Ventricular septal defect, Short stature, Postnatal growth retardation, Coarctation of aorta, Gro...	OMIM:147920
African Trypanosomiasis	Abnormal EKG, Pericarditis, Myocarditis, Myelopathy, Congestive heart failure, Second degree atri...	ORPHA:3385
Ulnar-Mammary Syndrome	Arrhythmia, Ventricular septal defect, Delayed puberty	OMIM:181450
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Growth delay, Cardiomyo...	OMIM:216340
Orofaciodigital Syndrome Xiv	Atrial septal defect, Occipital encephalocele, Patent ductus arteriosus, Ventricular septal defect	OMIM:615948
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Ventricular septal defect	OMIM:619525
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Ventricular septal defect	ORPHA:513456
Penile Agenesis	Atrial septal defect, Ventricular septal defect, Oligohydramnios	ORPHA:49
Coffin-Siris Syndrome 12	Heart murmur, Tetralogy of Fallot, Patent foramen ovale, Short stature	OMIM:619325
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Townes-Brocks Syndrome 1	Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Umbilical hernia, Ventricular septal defect	OMIM:620330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Short stat...	ORPHA:261552
Sotos Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Abnormal heart morphology, Atri...	ORPHA:821
Pallister-Killian Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Rhizomelia, Polyhydramnios, Mesomelic/rhi...	OMIM:601803
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aort...	OMIM:164210
Genitopatellar Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	OMIM:606170

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 Bicra

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 Bicra.

No publications found that use IMPC mice or data for Bicra.

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

MGI Allele	Allele Type	Produced
Bicra^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Bicra MGI:2154263

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Combined SHIRPA and Dysmorphology

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Bicra mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data