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Gene: Evl MGI:1194884

Gene Summary

Name:

Ena-vasodilator stimulated phosphoprotein

Synonyms:

b2b2600Clo

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	System	Allele	Zyg	Sex	Life Stage	P Value
thrombocytosis		Evl^{tm1b(KOMP)Wtsi}	HOM		Early adult	4.52×10^-05
increased fasting circulating glucose level		Evl^{tm1b(KOMP)Wtsi}	HOM		Early adult	3.52×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	50% (1 of 2)
Lymph node	Wholemount images	heterozygote	50% (1 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Small intestine	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Ear	N/A	heterozygote	50% (1 of 2)
Ear	N/A	homozygote	50% (1 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	100% (2 of 2)
Footplate	N/A	heterozygote	50% (1 of 2)
Footplate	N/A	homozygote	50% (1 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	homozygote	100% (2 of 2)
Handplate	N/A	heterozygote	50% (1 of 2)
Handplate	N/A	homozygote	50% (1 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	homozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	50% (1 of 2)
Lung	N/A	heterozygote	50% (1 of 2)
Lung	N/A	homozygote	50% (1 of 2)
Mandibular process	N/A	heterozygote	50% (1 of 2)
Mandibular process	N/A	homozygote	50% (1 of 2)
Maxillary process	N/A	heterozygote	50% (1 of 2)
Maxillary process	N/A	homozygote	50% (1 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	homozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	50% (1 of 2)
Oral cavity	N/A	homozygote	50% (1 of 2)
Skin	N/A	heterozygote	50% (1 of 2)
Skin	N/A	homozygote	50% (1 of 2)
Tail somite	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	homozygote	100% (2 of 2)
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Echo

M-Mode Images

32 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Auditory Brain Stem Response

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

4 Images

View images

Human diseases caused by Evl 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 Evl (0 diseases)
Human diseases predicted to be associated with Evl (724 diseases)

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

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

Disease	Matching phenotypes	Source
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Aneurysm Of Interventricular Septum	Vascular dilatation, Abnormal ventricular septum morphology	OMIM:105805
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Scimitar Syndrome	Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle,...	ORPHA:185
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia	OMIM:604416
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten...	OMIM:179613
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis	OMIM:209950
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect	OMIM:615731
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c	OMIM:618858
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot	OMIM:615542
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes	OMIM:610582
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ...	ORPHA:3426
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615396
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:860
Tetralogy Of Fallot	Tetralogy of Fallot	ORPHA:3303
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Isolated Dandy-Walker Malformation	Tetralogy of Fallot	ORPHA:217
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect...	OMIM:618316
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c	OMIM:606176
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot	ORPHA:1919
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Heme Oxygenase 1 Deficiency	Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis	OMIM:614034
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615373
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia...	OMIM:270100
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:1388
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu...	OMIM:612946
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal aortic ...	ORPHA:1166
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Hypoglycemia, Hyperglycemia	ORPHA:134
Fetal Encasement Syndrome	Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:613630
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At...	ORPHA:371428
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect	OMIM:619142
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus	OMIM:614886
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect	OMIM:618624
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Thrombocytosis, Anemia	OMIM:226300
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Lymphopenia, Thrombocytosis, Anemia	OMIM:615934
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag...	OMIM:608978
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Leukocytosis, Leukopenia, Recurrent hypoglycemia, Thrombocytosis, Anemia	ORPHA:20
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right...	ORPHA:2326
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Pulmonic stenosis, Pulmonary artery atresia, Arthrogryposis multiplex ...	OMIM:301056
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:618652
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy...	ORPHA:324636
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot	ORPHA:1381
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphalangeal thumb j...	OMIM:613870
Poems Syndrome	Thrombocytosis, Diabetes mellitus, Polycythemia	ORPHA:2905
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular ...	OMIM:607598
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect	ORPHA:2516
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect	OMIM:249270
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Stroke, Ventricular septal defect	ORPHA:49827
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste...	OMIM:617478
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta	ORPHA:1923
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect	OMIM:616589
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo...	OMIM:601005
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Type I diabetes mellitu...	OMIM:615688
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Wolcott-Rallison Syndrome	Atrial septal defect, Double outlet right ventricle	ORPHA:1667
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Diabetic Embryopathy	Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ...	ORPHA:1926
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
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
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp...	OMIM:615355
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Abnormal vena...	ORPHA:163956
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect, Coarctation of aorta	OMIM:620210
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Woods Syndrome	Ventricular septal defect	OMIM:615236
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart	OMIM:618142
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu...	OMIM:618223
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis	OMIM:212065
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas...	OMIM:301074
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a...	OMIM:264480
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Aase-Smith Syndrome I	Flexion contracture, Ventricular septal defect	OMIM:147800
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect	OMIM:613730
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Alagille Syndrome 2	Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis	OMIM:610205
Serkal Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect	OMIM:263630
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Giant Cell Arteritis	Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent...	ORPHA:397
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Prune Belly Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A...	ORPHA:2970
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:600001
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A...	OMIM:249420
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia	OMIM:619909
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Interstitial Lung And Liver Disease	Thrombocytosis, Anemia	OMIM:615486
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Abnormal heart morphology	ORPHA:254534
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophi...	ORPHA:251071
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Microphthalmia, Syndromic 9	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic...	OMIM:601186
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he...	ORPHA:488618
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Trichohepatoenteric Syndrome 1	Splenomegaly, Thrombocytosis, Increased mean platelet volume	OMIM:222470
Neuroleptic Malignant Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Vascular ring, Knee flexion contracture, Atri...	OMIM:603387
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:601494
Congenital Rubella Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:290
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ...	ORPHA:2306
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Peripheral pulmonary artery stenosis, Ventricular septal defect, Pulmonary artery stenosis, Joint...	OMIM:280000
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia	ORPHA:84064
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Atrial septal defect, Patent f...	OMIM:615668
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Joubert Syndrome 18	Ventricular septal defect, Camptodactyly	OMIM:614815
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo...	OMIM:121050
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia	OMIM:617450
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
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619769
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect	ORPHA:2345
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Camptodactyly	OMIM:301039
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Brachydactyly, Type B1	Joint contracture of the hand, Ventricular septal defect, Camptodactyly	OMIM:113000
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Complete Atrioventricular Septal Defect	Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o...	ORPHA:1329
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr...	ORPHA:1596
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super...	OMIM:618494
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta...	ORPHA:2876
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:75389
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Patent ductu...	OMIM:612562
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect	ORPHA:452
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E...	OMIM:617201
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Atrioventricular canal defect, Persistent left superior vena cava, Transposition of...	OMIM:314390
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect	ORPHA:2256
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Patent ductus arteriosus, Overriding aorta, Ventricular septal defect	OMIM:617021
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,...	ORPHA:7
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia	ORPHA:1908
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Vascular dilatation	OMIM:219730
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype...	OMIM:615474
Pentalogy Of Cantrell	Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Atri...	ORPHA:1335
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Hypomimic face	OMIM:608572
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong...	OMIM:618280
Brucellosis	Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia	ORPHA:1304
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis	OMIM:617877
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a...	ORPHA:2331
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect	OMIM:616651
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula...	OMIM:618775
Thoracoabdominal Syndrome	Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries, Congenital diaphra...	OMIM:313850
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:617159
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d...	ORPHA:1780
Transaldolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:606003
Tetraamelia Syndrome 2	Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Flexion contracture, Hypoplast...	OMIM:300166
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Coarctation of aorta, Atrial...	ORPHA:2008
Emanuel Syndrome	Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Pate...	OMIM:609029
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos...	ORPHA:369891
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct...	ORPHA:980
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Camptodactyly	OMIM:619980
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm...	OMIM:115470
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Pate...	OMIM:618870
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m...	OMIM:253800
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v...	OMIM:617022
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P...	OMIM:612582
Kagami-Ogata Syndrome	Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Flexion contracture, Pulmon...	OMIM:608149
Pelger-Huet Anomaly	Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness	OMIM:169400
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri...	OMIM:605275
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra...	ORPHA:435638
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2519
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar...	OMIM:616564
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy...	OMIM:300963
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Spondylo-Ocular Syndrome	Facial hypotonia, Ventricular septal defect	ORPHA:85194
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition...	OMIM:201000
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale	OMIM:614961
Seckel Syndrome 9	Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Congenital diaphrag...	OMIM:616777
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c...	ORPHA:2968
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex congenita, Patent foram...	OMIM:208085
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th...	OMIM:142900
Kleefstra Syndrome Due To 9Q34 Microdeletion	Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac septum morphology, Aorti...	ORPHA:96147
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch, Limb hypertonia	OMIM:616920
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec...	OMIM:265380
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Ventricular septal defect	ORPHA:79243
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot...	OMIM:192430
Insulin-Resistance Syndrome Type B	Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem...	ORPHA:2298
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery st...	ORPHA:96167
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly	OMIM:619123
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:617452
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Lymphedema-Distichiasis Syndrome	Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Emanuel Syndrome	Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma...	ORPHA:96170
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip contracture, Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Muscular ...	OMIM:619503
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	OMIM:244300
Trisomy 13	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:3378
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Ventricular septal defect	ORPHA:3078
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect	ORPHA:476126
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi...	ORPHA:3071
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Congenital Disorder Of Glycosylation, Type Iil	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614576
Heart Block, Congenital	Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node	OMIM:234700
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula...	OMIM:613001
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage	ORPHA:369929
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Limb joint contracture, Ventricular septal defect	ORPHA:505237
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart...	ORPHA:457279
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:611812
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:145420
Ogden Syndrome	Pulmonary artery stenosis, Torticollis, Ventricular septal defect	ORPHA:276432
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Hamamy Syndrome	Atrial septal defect, Complete atrioventricular canal defect	OMIM:611174
Myopathy With Extrapyramidal Signs	Calf muscle hypertrophy, Ventricular septal defect	OMIM:615673
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow...	OMIM:602782
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:609053
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta, Aortic root ane...	OMIM:617602
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Noonan Syndrome 4	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:610733
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal defect, Patent ...	OMIM:214800
Trisomy 1Q	Patent ductus arteriosus, Ventricular septal defect, Camptodactyly of finger, Congenital diaphrag...	ORPHA:261344
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta	OMIM:300514
19P13.3 Microduplication Syndrome	Ventricular septal defect	ORPHA:447980
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, Dilated cardiom...	ORPHA:26793
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620113
Leopard Syndrome 1	Scapular winging, Complete atrioventricular canal defect, Mitral valve prolapse, Pulmonic stenosi...	OMIM:151100
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di...	OMIM:613309
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Complete atrioventricular canal defect, Tetralogy of Fallot	OMIM:617925
Meier-Gorlin Syndrome 7	Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:617063
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu...	OMIM:601808
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d...	OMIM:309520
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Aplasia/Hypoplasia ...	ORPHA:354
Doors Syndrome	Thrombocytosis	ORPHA:79500
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula...	OMIM:614294
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr...	OMIM:609942
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Ventricular septal defect	ORPHA:166035
19P13.12 Microdeletion Syndrome	Atrial septal defect, Arthrogryposis multiplex congenita, Ventricular septal defect	ORPHA:254346
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl...	OMIM:178110
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Chromosome 9P Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric...	OMIM:158170
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta...	ORPHA:261494
Short Stature-Micrognathia Syndrome	Skeletal muscle hypertrophy, Ventricular septal defect	OMIM:617164
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea...	OMIM:100300
Congenital Disorder Of Glycosylation, Type It	Ventricular septal defect, Cardiomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Coarctation of a...	OMIM:614921
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef...	OMIM:235510
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Homozygous Familial Hypercholesterolemia	Premature arteriosclerosis, Precocious atherosclerosis, Abnormal internal carotid artery morpholo...	ORPHA:391665
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Sotos Syndrome	Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s...	OMIM:117550
Mosaic Trisomy 16	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Abnormal heart morphol...	ORPHA:1708
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:614114
Lateral Meningocele Syndrome	Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus...	OMIM:130720
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Loeys-Dietz Syndrome 5	Scapular winging, Decreased muscle mass, Ventricular septal defect, Aortic root aneurysm, Ascendi...	OMIM:615582
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D...	OMIM:300998
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Chops Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve...	OMIM:616368
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger...	ORPHA:99776
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect, Camptodactyly	OMIM:617360
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a...	OMIM:620025
Joubert Syndrome 14	Intracranial hemorrhage, Ventricular septal defect	OMIM:614424
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Donnai-Barrow Syndrome	Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:222448
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Hypo...	ORPHA:508488
Alagille Syndrome	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis	ORPHA:52
Kleefstra Syndrome 1	Macroglossia, Conotruncal defect	OMIM:610253
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia, Thyroid lymph...	OMIM:235255
19Q13.11 Microdeletion Syndrome	Ventricular septal defect	ORPHA:217346
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma...	OMIM:610443
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616449
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec...	OMIM:309801
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:612530
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:277600
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio...	ORPHA:1692
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm	ORPHA:96201
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect	OMIM:620024
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort...	OMIM:617506
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect	ORPHA:251038
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Macroglossia, Ascend...	ORPHA:453499
Duane-Radial Ray Syndrome	Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep...	OMIM:607323
C Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:261236
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Camptodactyly, Pulm...	OMIM:616894
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno...	OMIM:614609
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At...	OMIM:610759
De Barsy Syndrome	Decreased muscle mass, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ar...	ORPHA:2962
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta	ORPHA:268249
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79345
Congenital Tracheal Stenosis	Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left...	ORPHA:141127
Opitz Gbbb Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal he...	ORPHA:2745
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect	OMIM:615503
Bohring-Opitz Syndrome	Atrial septal defect, Flexion contracture, Ventricular septal defect, Camptodactyly	OMIM:605039
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:123700
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facial palsy, Coarctation o...	ORPHA:508498
Zellweger Syndrome	Ventricular septal defect	ORPHA:912
Distal 22Q11.2 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Aor...	ORPHA:261330
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Craniofacioskeletal Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch	OMIM:300712
Renal Agenesis	Ventricular septal defect	ORPHA:411709
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Macroglossia, Ventricular septal defect, Patent foramen ovale	OMIM:613457
Brain-Lung-Thyroid Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram...	ORPHA:209905
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia	ORPHA:1655
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:606232
Mgat2-Cdg	Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:79329
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta...	ORPHA:444072
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Left superior vena cava draining to coronary sinus, Ventricular septal defe...	ORPHA:464738
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect	OMIM:619306
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Weill-Marchesani Syndrome 2	Ventricular septal defect, Patent ductus arteriosus, Elbow flexion contracture, Ascending aortic ...	OMIM:608328
Coffin-Siris Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:1465
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ...	ORPHA:2461
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctation...	OMIM:618454
Focal Dermal Hypoplasia	Ventricular septal defect, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic her...	ORPHA:2092
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Paternal Uniparental Disomy Of Chromosome 6	Macroglossia, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly	ORPHA:96191
3Mc Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Diastasis recti	OMIM:257920
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:244450
Alg9-Cdg	Torticollis, Ventricular septal defect, Hypoplasia of the musculature, Pericardial effusion, Abno...	ORPHA:79328
Autosomal Recessive Robinow Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal...	ORPHA:1507
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Myopathy, Hypert...	ORPHA:506
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage, Interrupted aortic ...	ORPHA:163979
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Peroxisome Biogenesis Disorder 1A (Zellweger)	Macroglossia, Patent ductus arteriosus, Ventricular septal defect	OMIM:214100
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic stenosis	ORPHA:488632
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Hydrolethalus Syndrome 1	Complete atrioventricular canal defect, Agenesis of the diaphragm, Ventricular septal defect	OMIM:236680
Ulnar-Mammary Syndrome	Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of finger	ORPHA:3138
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect, Camptodactyly	OMIM:272950
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Alagille Syndrome 1	Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def...	OMIM:118450
Diets-Jongmans Syndrome	Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, Congenital d...	OMIM:618846
Cohen Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Den Hoed-De Boer-Voisin Syndrome	Ventricular septal defect	OMIM:619229
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Flexion contracture, Ventricular septal defect	OMIM:614653
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept...	ORPHA:96121
Rabson-Mendenhall Syndrome	Atrial septal defect, Cardiomyopathy, Macroglossia, Ventricular septal defect	ORPHA:769
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Shoulder muscle hypoplasia, Patent ductus arteriosus, Coarctation of a...	OMIM:274000
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Facial palsy, Patent ductus arteriosus, Camptodactyly, Atrial septal d...	OMIM:300373
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Limb hypertonia	OMIM:609460
Trichohepatoneurodevelopmental Syndrome	Macroglossia, Patent ductus arteriosus, Distal arthrogryposis, Ventricular septal defect	OMIM:618268
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp...	OMIM:139210
Short-Rib Thoracic Dysplasia 12	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:269860
Chromosome 16P13.3 Duplication Syndrome	Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ...	OMIM:613458
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:251014
Thauvin-Robinet-Faivre Syndrome	Macroglossia, Varicose veins, Ventricular septal defect, Mitral valve prolapse	OMIM:617107
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, Aortic valve sten...	ORPHA:464311
Holoprosencephaly	Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ...	ORPHA:2162
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:607721
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Camptodactyly	OMIM:616145
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta	ORPHA:1199
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,...	OMIM:164280
Trisomy 18	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmati...	ORPHA:3380
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss...	ORPHA:500095
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At...	ORPHA:97360
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:619575
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmati...	OMIM:154400
Fanconi Anemia, Complementation Group C	Flexion contracture, Ventricular septal defect	OMIM:227645
Pallister-Hall Syndrome	Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the aorta	OMIM:146510
Eisenmenger Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho...	ORPHA:97214
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	ORPHA:3047
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Retinal arteriolar tortuosity, Pa...	ORPHA:567
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber atrophy, Abnormal heart mor...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber atrophy, Abnormal heart mor...	ORPHA:352665
Peroxisome Biogenesis Disorder 5A (Zellweger)	Atrial septal defect, Ventricular septal defect, Camptodactyly	OMIM:614866
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ...	ORPHA:466791
Ogden Syndrome	Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg...	OMIM:300855
Trichothiodystrophy	Cardiomyopathy, Multiple joint contractures, Ventricular septal defect	ORPHA:33364
Larsen Syndrome	Atrial septal defect, Ventricular septal defect, Aortic aneurysm	OMIM:150250
Jacobsen Syndrome	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:147791
Oculodentodigital Dysplasia	Ventricular septal defect, Camptodactyly of finger	ORPHA:2710
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Dyrk1A-Related Intellectual Disability Syndrome	Patent ductus arteriosus, Aortic valve stenosis, Multiple joint contractures, Ventricular septal ...	ORPHA:464306
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep...	OMIM:309500
Distal 22Q11.2 Microduplication Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Macroglossia, Tricu...	ORPHA:261337
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Vater/Vacterl Association	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr...	OMIM:192350
Hardikar Syndrome	Ventricular septal defect, Patent ductus arteriosus, Partial anomalous pulmonary venous return, P...	OMIM:301068
Histiocytoid Cardiomyopathy	Stroke-like episode, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Marshall-Smith Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Dysplastic aortic valve	OMIM:602535
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag...	ORPHA:363958
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Ventricular septal defect	OMIM:263520
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re...	OMIM:301044
Cerebrocostomandibular Syndrome	Ventricular septal defect	ORPHA:1393
Limb Body Wall Complex	Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph...	ORPHA:2369
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Mitral valve prolapse, ...	OMIM:180849
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:616975
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se...	OMIM:210710
Restrictive Dermopathy	Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Patent ductus arteriosus, Asc...	ORPHA:1662
Jacobsen Syndrome	Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	ORPHA:2308
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am...	OMIM:616268
Costello Syndrome	Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mitral valve prolapse, ...	OMIM:218040
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Macroglossia, Aor...	ORPHA:444077
Omodysplasia 1	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	OMIM:258315
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353281
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Weakness of facial musculature, Ventricular septal defect	OMIM:619418
Cornelia De Lange Syndrome 1	Elbow flexion contracture, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:122470
Keutel Syndrome	Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Ventricular septal defect, Pul...	OMIM:245150
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect, Aortic valve stenosis, Mitral stenosis	ORPHA:955
Cerebrocostomandibular Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Elbow flexion contracture	OMIM:117650
Neu-Laxova Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Camptod...	OMIM:256520
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Camptoda...	OMIM:143095
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:102500
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Lower...	ORPHA:459070
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Knee flexion contracture, Transpo...	OMIM:614976
Simpson-Golabi-Behmel Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Aplasia/Hypo...	ORPHA:373
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Noonan Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr...	OMIM:163950
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept...	ORPHA:818
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A...	ORPHA:363700
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Flexion contracture, Bicuspid aortic valve	OMIM:271640
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Atrial septal defect,...	ORPHA:904
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect	ORPHA:436252
Fryns Syndrome	Ventricular septal defect, Aplasia of the left hemidiaphragm, Camptodactyly, Atrial septal defect...	OMIM:229850
Zttk Syndrome	Atrial septal defect, Patent ductus arteriosus, Flexion contracture, Ventricular septal defect	OMIM:617140
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Renal artery stenosis, Atrial septal def...	ORPHA:3472
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat...	ORPHA:438213
Degcags Syndrome	Ventricular septal defect, Patent ductus arteriosus, Persistent left superior vena cava, Pulmonic...	OMIM:619488
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Pa...	OMIM:312870
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis recti, Pulmonar...	ORPHA:96334
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h...	ORPHA:268261
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353277
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Ventricular septal defect	OMIM:619525
Biliary, Renal, Neurologic, And Skeletal Syndrome	Pulmonary artery dilatation, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inve...	OMIM:619534
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Generalized muscle h...	OMIM:235730
Digeorge Syndrome	Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Truncus arteriosus,...	OMIM:188400
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Lower-limb joint contracture, Ventricular septal defect	ORPHA:513456
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:270400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Torticollis, Ventricular septal defect, Bicuspid aortic valve, Dilatation of the cerebral artery,...	OMIM:619475
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Coffin-Siris Syndrome 1	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept...	OMIM:135900
Liver Disease, Severe Congenital	Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c...	OMIM:619991
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Orofaciodigital Syndrome Xiv	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615948
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Flexion contract...	OMIM:194050
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Penile Agenesis	Atrial septal defect, Ventricular septal defect	ORPHA:49
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:147920
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Wolf-Hirschhorn Syndrome	Atrial septal defect, Decreased muscle mass, Ventricular septal defect	OMIM:194190
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Distal arthrogryposis,...	ORPHA:672
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619522
Ulnar-Mammary Syndrome	Elbow flexion contracture, Ventricular septal defect	OMIM:181450
Genitopatellar Syndrome	Atrial septal defect, Hip contracture, Ventricular septal defect, Knee flexion contracture	OMIM:606170
Cornelia De Lange Syndrome	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:199
Craniofacial Microsomia 1	Ventricular septal defect, Hypoplasia of facial musculature, Patent ductus arteriosus, Coarctatio...	OMIM:164210
Peters-Plus Syndrome	Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Pulmonic stenosis, Atrial s...	OMIM:261540
Sotos Syndrome	Hip contracture, Ventricular septal defect, Ankle flexion contracture, Bilateral camptodactyly, F...	ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect	OMIM:620330
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, Elbow flexion con...	OMIM:268300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ...	ORPHA:261552
Johanson-Blizzard Syndrome	Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Atrial septal defect, ...	OMIM:243800
Yunis-Varon Syndrome	Cardiomyopathy, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale	OMIM:216340
Pallister-Killian Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Flexion con...	OMIM:601803

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 Evl

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 Evl.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
EVL regulates VEGF receptor-2 internalization and signaling in developmental angiogenesis.	EMBO reports (January 2021)	Evl^{tm1a(KOMP)Wtsi}	PMC7857432

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MGI Allele	Allele Type	Produced
Evl^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Evl^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Evl^{tm3a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Evl^{tm3e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Evl^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

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: Evl MGI:1194884

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Adult LacZ

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X-ray

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Auditory Brain Stem Response

Human diseases caused by Evl mutations

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Access Data Release 20.1 Data