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Gene: Daam1 MGI:1914596

Gene Summary

Name:

dishevelled associated activator of morphogenesis 1

Synonyms:

1700066F09Rik, 2310028E21Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating amylase level	Daam1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.99×10^-05
preweaning lethality, complete penetrance	Daam1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased blood urea nitrogen level	Daam1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.75×10^-05

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
Aorta	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	50% (1 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Eye	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	Ambiguous
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Oral epithelium	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Small intestine	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thymus	Wholemount images	heterozygote	100% (2 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lymph node	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)
Pancreas	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)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 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	0.0% (0 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	100% (2 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	50% (1 of 2)
Forelimb	N/A	homozygote	100% (2 of 2)
Handplate	N/A	heterozygote	50% (1 of 2)
Handplate	N/A	homozygote	100% (2 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	50% (1 of 2)
Hindlimb	N/A	homozygote	100% (2 of 2)
Liver	N/A	heterozygote	50% (1 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	0.0% (0 of 2)
Mandibular process	N/A	homozygote	50% (1 of 2)
Maxillary process	N/A	heterozygote	0.0% (0 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	0.0% (0 of 2)
Oral cavity	N/A	homozygote	50% (1 of 2)
Skin	N/A	heterozygote	0.0% (0 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.

Embryo LacZ

LacZ images wholemount

8 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Adult LacZ

LacZ Images Wholemount

20 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

1 Images

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Auditory Brain Stem Response

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

4 Images

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Immunophenotyping

Panel B FCS file(s)

8 Images

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Immunophenotyping

Panel A FCS file(s)

8 Images

View images

Human diseases caused by Daam1 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 Daam1 (0 diseases)
Human diseases predicted to be associated with Daam1 (810 diseases)

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

The table below shows human diseases predicted to be associated to Daam1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Tricuspid Atresia	Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist...	ORPHA:1209
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Nephrosialidosis	Pericardial effusion, Ascites, Bone-marrow foam cells, Death in childhood	OMIM:256150
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Congenital Heart Block	Cyanosis, Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endo...	ORPHA:60041
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon...	OMIM:618845
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Hydrops Fetalis	Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnorma...	ORPHA:1041
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ...	ORPHA:860
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r...	OMIM:620294
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Eng-Strom Syndrome	Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect, C...	ORPHA:1937
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph...	OMIM:614702
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Congenital Pulmonary Lymphangiectasia	Cyanosis, Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites	ORPHA:2414
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy, Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Congenital Tricuspid Valve Dysplasia	Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricusp...	ORPHA:555874
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Pulmonary edema, Transient ischemic attack, Cardiomegaly, Pericardial ef...	OMIM:115197
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios	OMIM:615731
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Scimitar Syndrome	Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,...	ORPHA:185
Peroxisome Biogenesis Disorder 8A (Zellweger)	Death in infancy, Jaundice, Ventricular septal defect	OMIM:614876
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten...	OMIM:179613
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Death in infancy, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defe...	OMIM:620070
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ...	OMIM:616749
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema	OMIM:608776
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cyanosis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Do...	ORPHA:3304
Cantu Syndrome	Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, ...	OMIM:239850
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph...	ORPHA:1354
Perching Syndrome	Joint contracture, Cyanosis, Camptodactyly	OMIM:617055
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Double Outlet Right Ventricle	Cyanosis, Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypopla...	ORPHA:3426
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Cutis marmorata	OMIM:615297
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul...	ORPHA:1461
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,...	OMIM:617478
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect...	OMIM:618316
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula...	OMIM:261740
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Intrauterine growth retardation, Hypertrophic ca...	OMIM:618775
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Pericardial effusion, Angioedema, Small vessel vasculitis, Pleur...	ORPHA:36412
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At...	OMIM:306955
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakness of long finger extens...	ORPHA:98913
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Meckel Syndrome, Type 8	Pericardial effusion	OMIM:613885
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Acute Interstitial Pneumonia	Cyanosis, Pericardial effusion, Hypoxemia, Peripheral edema, Pleural effusion	ORPHA:79126
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic a...	ORPHA:99050
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Cor pulmonale	OMIM:263000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pericardial effusion, Pedal edema, Hypoxemia, Abnormal pulmonary vein morphology, Pleur...	ORPHA:199241
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, Jaundice, Dilat...	ORPHA:26793
Aortic Arch Interruption	Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv...	ORPHA:2299
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Intrauterine growth ...	OMIM:616276
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Microcephaly-Cardiomyopathy Syndrome	Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Isolated Right Ventricular Hypoplasia	Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Pedal edema, Hypoxemia, Atrial septal...	ORPHA:439
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P...	OMIM:235510
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Neonatal death...	OMIM:608978
Primary Pulmonary Hypoplasia	Cyanosis, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atrial septal defect, Hypoxem...	ORPHA:2257
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:1388
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy	OMIM:620089
Neuralgic Amyotrophy	Scapular winging, Acrocyanosis	ORPHA:2901
Congenital Enterovirus Infection	Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy...	ORPHA:292
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode	OMIM:610992
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Absence Of The Pulmonary Artery	Cyanosis, Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, P...	ORPHA:980
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy, Muscular dystrophy	ORPHA:300751
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Abnormal ...	OMIM:212065
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, P...	ORPHA:90362
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Pulmonary artery atresia, Intrauter...	OMIM:301056
Alkuraya-Kucinskas Syndrome	Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion	OMIM:617822
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong...	OMIM:618280
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Cardiomyopathy, Dilated, 2H	Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Lambert Syndrome	Intrauterine growth retardation, Jaundice, Ventricular septal defect	ORPHA:1296
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Aicardi-Goutieres Syndrome 9	Pericarditis, Edema, Pericardial effusion, Lower limb hypertonia, Left ventricular hypertrophy, I...	OMIM:619487
Gaucher Disease Type 1	Pericardial effusion, Pedal edema, Ascites, Abnormal myocardium morphology, Bruising susceptibility	ORPHA:77259
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours...	ORPHA:3427
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Pediatric Systemic Lupus Erythematosus	Myositis, Edema, Pericardial effusion, Pleural effusion, Ascites	ORPHA:93552
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia...	OMIM:270100
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Asbestos Intoxication	Cyanosis, Edema, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Oxygen desaturation on exertion	ORPHA:2302
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Ventricular septal defect	OMIM:613730
Poems Syndrome	Edema, Pericardial effusion, Acrocyanosis, Pleural effusion, Ascites	ORPHA:2905
Cardiomyopathy, Dilated, 1A	Pericardial effusion, Dilated cardiomyopathy	OMIM:115200
Cardiomyopathy, Dilated, 2G	Increased Z-disc width, Left atrial enlargement, Myocardial sarcomeric disarray, Cerebral hemorrh...	OMIM:619897
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopa...	ORPHA:2326
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy	ORPHA:444013
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At...	ORPHA:371428
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion	OMIM:613011
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Central cyanosis, Ascending tubular aorta aneurysm, Pulmonic stenosis, Sub...	OMIM:620067
Congenital Fibrinogen Deficiency	Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v...	ORPHA:335
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Q Fever	Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Abnormal vascul...	ORPHA:781
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal aortic ...	ORPHA:1166
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu...	OMIM:612946
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Wolcott-Rallison Syndrome	Jaundice, Dehydration, Atrial septal defect, Double outlet right ventricle, Ascites	ORPHA:1667
Fetal Trimethadione Syndrome	Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin...	ORPHA:1913
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites	OMIM:618183
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus	OMIM:614886
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios	OMIM:618624
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly	ORPHA:391428
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Pericardial effusion, Abnormal lymphatic vessel morphology, Ecchymosis, Pleu...	ORPHA:464329
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Pulmonic s...	OMIM:615355
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Alg9-Cdg	Torticollis, Ventricular septal defect, Hypoplasia of the musculature, Pericardial effusion, Hydr...	ORPHA:79328
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios	OMIM:263630
Breath-Holding Spells	Cyanosis	OMIM:607578
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Ankle flexion contracture, Knee flexion contracture, Intrauterine growth ...	ORPHA:284417
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy...	OMIM:607598
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Buerger Disease	Vasculitis, Acrocyanosis	ORPHA:36258
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ...	ORPHA:3405
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Hydrops fetali...	OMIM:601927
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Classical-Like Ehlers-Danlos Syndrome Type 2	Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V...	ORPHA:536532
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Intrauterine growth retardation, Truncus arteriosus, Abnormal aortic morphology, Ventricular sept...	ORPHA:2516
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Microphthalmia, Syndromic 9	Atrial septal defect, Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragma...	OMIM:601186
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Waardenburg Syndrome Type 3	Atrial septal defect, Acrocyanosis, Camptodactyly of finger	ORPHA:896
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Congenital Tracheomalacia	Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu...	ORPHA:95430
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Congenital Rubella Syndrome	Ventricular septal defect, Jaundice, Patent ductus arteriosus, Atrial septal defect, Intrauterine...	ORPHA:290
Gaucher Disease Type 3	Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c...	ORPHA:77261
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Cy...	ORPHA:99125
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V...	OMIM:126320
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp...	OMIM:139210
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Pulmonary Arteriovenous Malformation	Cyanosis, Transient ischemic attack, Telangiectasia, Hypoxemia, Pulmonary arteriovenous fistulas,...	ORPHA:2038
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Abnormal heart morphology	ORPHA:1867
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Abnormal vena...	ORPHA:163956
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
Aicardi-Goutieres Syndrome 7	Edema, Pericardial effusion, Vasculitis, Urticaria, Limb hypertonia, Intrauterine growth retardat...	OMIM:615846
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Atrial septal defec...	OMIM:618142
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Intr...	ORPHA:1923
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Cutis marmorata, Abnormal pericardium morphology, Transient ischemic attack, Myocarditi...	ORPHA:183
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Hennekam Syndrome	Camptodactyly of finger, Lymphedema, Pericardial effusion, Pulmonary lymphangiectasia, Hydrops fe...	ORPHA:2136
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphalangeal thumb j...	OMIM:613870
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect, Cutis marmorata	OMIM:602501
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:618652
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Cyanosis, Medial calcification of large arteries, Transient ischemic att...	ORPHA:51608
Hereditary Methemoglobinemia	Cyanosis	ORPHA:621
Complete Atrioventricular Septal Defect	Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Disp...	ORPHA:1329
Congenital Tracheal Stenosis	Cyanosis, Ventricular septal defect, Fetal ascites, Polyhydramnios, Ascending aorta hypoplasia, P...	ORPHA:141127
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Stroke, Ventricular septal defect	ORPHA:49827
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,...	OMIM:617021
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy, Acrocyanosis	ORPHA:2400
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect, Cutis marmorata	OMIM:616589
Carnitine-Acylcarnitine Translocase Deficiency	Rhabdomyolysis, Cardiomyopathy, Cyanosis	ORPHA:159
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect	OMIM:249270
Aase-Smith Syndrome I	Death in infancy, Flexion contracture, Ventricular septal defect	OMIM:147800
Chédiak-Higashi Syndrome	Edema, Pericardial effusion, Jaundice, Pleural effusion, Cutaneous photosensitivity, Bruising sus...	ORPHA:167
Aymé-Gripp Syndrome	Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Patent ductus arteriosus, Ca...	ORPHA:1272
Filippi Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:272440
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Transposition of the great arteries, Neonatal death, Atrioventricul...	OMIM:314390
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept...	ORPHA:99095
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Anomalous pulmonary venous return, ...	ORPHA:99104
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Intrauterine ...	OMIM:619909
Joubert Syndrome 18	Intrauterine growth retardation, Ventricular septal defect, Camptodactyly	OMIM:614815
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Warsaw Breakage Syndrome	Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Cutis marmorata	OMIM:613398
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Ventricular septal defect, Jaundice, Oligohydramnios, Dehydration, Atrial septa...	OMIM:208085
High Altitude Pulmonary Edema	Hypoxemia, Cyanosis, Pulmonary edema	ORPHA:330012
Diabetic Embryopathy	Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ...	ORPHA:1926
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Congenital Myasthenic Syndrome	Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, A...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, A...	ORPHA:98914
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Fucosidosis	Decreased muscle mass, Acrocyanosis, Vascular skin abnormality, Cardiomegaly	ORPHA:349
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Death in childhood, Intraut...	OMIM:612938
Prune Belly Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A...	ORPHA:2970
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect, Coarctation of aorta	OMIM:620210
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophi...	ORPHA:251071
Aicardi-Goutieres Syndrome 1	Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Eosinophilic Fasciitis	Muscular edema, Acrocyanosis, Edema, Myositis	ORPHA:3165
Giant Cell Arteritis	Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent...	ORPHA:397
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal death, Death in infancy, Cyanosis, Misalignment of the pulmonary veins	OMIM:265120
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A...	OMIM:249420
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
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl...	OMIM:616897
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Macroglossia,...	OMIM:615668
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia	OMIM:617450
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hydrops fetalis, Endocardial fibroelastosis	OMIM:276822
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr...	ORPHA:1596
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Coarctation ...	OMIM:618494
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Joint contracture of the hand, Camptodactyl...	OMIM:280000
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo...	OMIM:601005
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Increase...	OMIM:617022
Transaldolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial...	OMIM:606003
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology	ORPHA:254534
Tyshchenko Syndrome	Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Intrauterine ...	OMIM:615102
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Jaundice, Vasculitis, Ascendin...	ORPHA:2331
Infant Acute Respiratory Distress Syndrome	Hypoxemia, Cyanosis, Pulmonary edema	ORPHA:70587
Serkal Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios	ORPHA:139466
Meckel Syndrome 14	Increased nuchal translucency, Cyanosis, Oligohydramnios, Single ventricle	OMIM:619879
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Ventricular septal defect, Jaundice, Arthrogryposis multiplex congenita, Right ...	OMIM:613404
Lambotte Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:245552
Cockayne Syndrome Type 1	Increased blood urea nitrogen	ORPHA:90321
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E...	OMIM:617201
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect, Intrauterine growth ret...	OMIM:616651
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
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
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Left atrial enlargement, Right ventricular dilatation, Peripheral edema, Left ventricul...	ORPHA:99106
Emanuel Syndrome	Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Pate...	OMIM:609029
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Intrauterine growth retardation, Ventricular septal defect, Bicuspid ao...	OMIM:617751
Intellectual Developmental Disorder, Autosomal Dominant 47	Intrauterine growth retardation, Increased nuchal translucency, Ventricular septal defect	OMIM:617635
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo...	OMIM:121050
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe...	OMIM:612562
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect	ORPHA:2345
3C Syndrome	Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid...	ORPHA:7
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:600001
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta...	ORPHA:2876
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Vascular ring, Atri...	OMIM:603387
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect, Polyhydramnios	ORPHA:2256
Woods Syndrome	Ventricular septal defect	OMIM:615236
Restrictive Dermopathy 2	Intrauterine growth retardation, Cyanosis	OMIM:619793
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea...	OMIM:265380
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Acrocardiofacial Syndrome	Death in infancy, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Coarctatio...	ORPHA:2008
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Skeletal muscle atrophy, Cyanosis, Ragged-red muscle fibers, Concentric hypertr...	OMIM:252010
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Intrauterine growth retardation, Pulmonary artery stenosis, Ventricular sep...	ORPHA:75389
Eisenmenger Syndrome	Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Aortopulmonary window...	ORPHA:97214
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Brachydactyly, Type B1	Joint contracture of the hand, Ventricular septal defect, Camptodactyly	OMIM:113000
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Hypomimic face	OMIM:608572
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ...	ORPHA:2306
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Incr...	OMIM:605275
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Patent ductus arteriosus, Ventricular septal defect	ORPHA:452
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Tarp Syndrome	Cyanosis, Atrial septal defect, Intrauterine growth retardation, Tetralogy of Fallot, Persistent ...	ORPHA:2886
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos...	ORPHA:369891
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Ascending aorta hypoplasia, Flexion contracture, Facial erythema, Knee flexion con...	OMIM:619503
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr...	OMIM:618027
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Peau d'orange, Ventricular septal defect, Patent ductus arteriosus, Atrial sept...	OMIM:614576
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Pyruvate Dehydrogenase E1-Alpha Deficiency	Intrauterine growth retardation, Flexion contracture, Ventricular septal defect	ORPHA:79243
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema	ORPHA:73224
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterios...	OMIM:616564
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in infancy, Ventricular septal defect, Death in childhood	OMIM:616901
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Seckel Syndrome 9	Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Pulmonary artery hypo...	OMIM:616777
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Chiari Malformation Type Ii	Limb muscle weakness, Cyanosis	OMIM:207950
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Ventricular septal defect, Increased nuchal translucency, Patent ductus arterio...	OMIM:618870
Verheij Syndrome	Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect	OMIM:615583
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Aminopterin/Methotrexate Embryofetopathy	Ventricular septal defect, Situs inversus totalis, Pulmonary artery atresia, Intrauterine growth ...	ORPHA:1908
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Kagami-Ogata Syndrome	Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Flexion con...	OMIM:608149
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Intrauterine growth retardation, Flexion contracture, Ventricular septal de...	OMIM:617452
Lymphangioleiomyomatosis	Lymphedema, Chylopericardium, Chylothorax, Ascites, Pulmonary lymphangiomyomatosis	ORPHA:538
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Joint contracture of the 5th finger	OMIM:614407
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Camptodactyly	OMIM:301039
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis	ORPHA:1302
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Flexi...	OMIM:300166
Esophageal Atresia	Cyanosis, Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Tetralogy of Fallot	ORPHA:1199
Viss Syndrome	Tortuous cerebral arteries, Prominent superficial blood vessels, Epidural hemorrhage, Polyhydramn...	OMIM:619472
Emanuel Syndrome	Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma...	ORPHA:96170
Pelger-Huet Anomaly	Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness	OMIM:169400
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Camptodactyly	OMIM:619980
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral...	OMIM:612582
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Coarctation of aorta...	OMIM:617602
Crimean-Congo Hemorrhagic Fever	Pericardial effusion, Myocarditis, Jaundice, Subdural hemorrhage, Spontaneous hematomas, Ecchymos...	ORPHA:99827
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he...	ORPHA:488618
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Cerebral arteriovenous malforma...	OMIM:610655
Trisomy 13	Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Atrial septal defect, Intra...	ORPHA:3378
Atrial Septal Defect, Ostium Secundum Type	Cyanosis, Transient ischemic attack, Pedal edema, Right ventricular dilatation, Stroke, Abnormal ...	ORPHA:99103
Histiocytoid Cardiomyopathy	Cyanosis, Ventricular septal defect, Cardiomegaly, Stroke-like episode, Pulmonary edema	ORPHA:137675
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Intrauterine growth retardation, Limb joint contracture, Ventricular septal...	ORPHA:505237
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
Spondylo-Ocular Syndrome	Facial hypotonia, Ventricular septal defect	ORPHA:85194
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ...	ORPHA:1780
Trisomy 1Q	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern...	ORPHA:261344
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Gitelman Syndrome	Pericardial effusion, Varicose veins, Rhabdomyolysis	ORPHA:358
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Interrupted aortic arch, Limb...	OMIM:616920
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale	OMIM:614961
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pleural effusion, Hypoxemia	OMIM:181000
Rere-Related Neurodevelopmental Syndrome	Intrauterine growth retardation, Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
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
Tetrasomy 5P	Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis	ORPHA:3309
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Unilateral Polymicrogyria	Cyanosis, Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology	ORPHA:268943
Pentalogy Of Cantrell	Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Atri...	ORPHA:1335
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Costello Syndrome	Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Macroglossia, Pulmonic stenosis...	ORPHA:3071
Noonan Syndrome 4	Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	OMIM:610733
Fanconi Anemia, Complementation Group B	Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Intr...	OMIM:300514
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Ventricular septal defect, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia...	OMIM:235255
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Ventricular septal defect, Atrial septal defect, Intrauterin...	OMIM:270450
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
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	OMIM:244300
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Sepsis In Premature Infants	Cyanosis, Edema, Jaundice, Petechiae, Purpura	ORPHA:90051
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619769
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition...	OMIM:201000
Surfactant Metabolism Dysfunction, Pulmonary, 3	Neonatal death, Death in infancy, Cyanosis, Hypoxemia	OMIM:610921
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Intrauteri...	OMIM:611812
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Limb hypertonia	OMIM:619580
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart...	ORPHA:457279
19P13.3 Microduplication Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:447980
Tsh-Secreting Pituitary Adenoma	Pericardial effusion	ORPHA:91347
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:617159
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Ventricular septal defect	ORPHA:3078
Meckel Syndrome, Type 4	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:611134
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atresia, Intrauterine growt...	OMIM:620113
Acquired Purpura Fulminans	Intracranial hemorrhage, Acrocyanosis, Macular purpura	ORPHA:49566
Myopathy With Extrapyramidal Signs	Calf muscle hypertrophy, Ventricular septal defect	OMIM:615673
Short Stature-Micrognathia Syndrome	Skeletal muscle hypertrophy, Intrauterine growth retardation, Ventricular septal defect	OMIM:617164
Ververi-Brady Syndrome	Intrauterine growth retardation, Transposition of the great arteries	OMIM:617982
Kleefstra Syndrome Due To 9Q34 Microdeletion	Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac septum morphology, Aorti...	ORPHA:96147
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Polyhydramnios, Camptod...	ORPHA:99776
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Filippi Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:3255
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect, Oxygen desaturation on exertion, Hypoxemia	OMIM:610978
Fanconi Anemia, Complementation Group I	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Patent foramen ...	OMIM:609053
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Subcutaneous lipoma, Subvalvular aortic stenosis, Atrial septal defect...	OMIM:613001
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy...	OMIM:300963
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype...	OMIM:615474
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
19P13.12 Microdeletion Syndrome	Atrial septal defect, Intrauterine growth retardation, Arthrogryposis multiplex congenita, Ventri...	ORPHA:254346
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow...	OMIM:602782
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Aplasia/Hypoplasia ...	ORPHA:354
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Ventricular septal defect, Polyhydramnios	OMIM:219730
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:618348
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu...	OMIM:601808
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defect, Intrauterine grow...	OMIM:617360
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Foam cells, Cyanosis	ORPHA:747
Pulmonary Alveolar Microlithiasis	Mitral valve calcification, Cyanosis, Calcification of the aorta, Hypoxemia, Peripheral edema, Ox...	ORPHA:60025
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm...	OMIM:115470
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Death in infancy, Ventricular septal defect, Polyhydramnios, Death in childhood, Intrauterine gro...	OMIM:243150
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Prominent superficial blood vessels, Mitral ...	ORPHA:740
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Edema, Periorbital edema, Myocarditis, Erythema, Vascul...	ORPHA:221
Ogden Syndrome	Pulmonary artery stenosis, Ventricular septal defect, Torticollis	ORPHA:276432
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proximal interpha...	OMIM:300998
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Decreased muscle mass, Scapular winging, Ventricular septal ...	OMIM:615582
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
De Barsy Syndrome	Decreased muscle mass, Ventricular septal defect, Progeroid facial appearance, Patent ductus arte...	ORPHA:2962
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistul...	OMIM:620024
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal...	OMIM:214800
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula...	OMIM:614294
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Coarctation of aorta, Severe intrauterine growth retardation, Subvalvu...	OMIM:614114
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Pulmonary artery stenosis, Patent ductus arte...	ORPHA:96167
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Intrauterine growth retardation, Ventricular septal defect	ORPHA:166035
Alagille Syndrome	Telangiectasia of the skin, Ventricular septal defect, Atrial septal defect, Intrauterine growth ...	ORPHA:52
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th...	OMIM:142900
Short-Rib Thoracic Dysplasia 12	Ventricular septal defect, Edema, Polyhydramnios, Patent ductus arteriosus, Neonatal death, Intra...	OMIM:269860
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo...	OMIM:609942
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly	OMIM:619123
Sotos Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Prolonge...	OMIM:117550
Zellweger Syndrome	Death in infancy, Jaundice, Ventricular septal defect	ORPHA:912
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2519
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Ethylene Glycol Poisoning	Cyanosis, Facial palsy, Cerebral edema, Pulmonary edema	ORPHA:31826
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d...	OMIM:309520
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage	ORPHA:369929
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:145420
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma...	OMIM:610443
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cutis marmorata, Cardiomegaly, Calcification of the aorta,...	ORPHA:51
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a...	OMIM:264480
19Q13.11 Microdeletion Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:217346
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern...	ORPHA:1692
Lateral Meningocele Syndrome	Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus...	OMIM:130720
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl...	OMIM:178110
Bohring-Opitz Syndrome	Ventricular septal defect, Polyhydramnios, Flexion contracture, Camptodactyly, Atrial septal defe...	OMIM:605039
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta...	ORPHA:261494
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Congenital Disorder Of Glycosylation, Type It	Ventricular septal defect, Cardiomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Coarctation of a...	OMIM:614921
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot...	OMIM:192430
Donnai-Barrow Syndrome	Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:222448
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Chromosome 9P Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric...	OMIM:158170
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di...	OMIM:613309
Tetraamelia Syndrome 2	Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Hand-Foot-Genital Syndrome	Miscarriage, Ventricular septal defect	ORPHA:2438
Mosaic Trisomy 16	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Coarctation of ao...	ORPHA:1708
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Ventricular septal defect, Progeroid facial appearance, Poor wound h...	OMIM:123700
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:612530
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Pulmonary artery stenosis, Hyp...	OMIM:100300
Postinfectious Vasculitis	Cerebral vasculitis, Palpable purpura, Cutis marmorata, Cardiomyopathy, Ischemic stroke, Vasculit...	ORPHA:48435
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Cutis marmorata, Bicuspid aortic valve, Patent ductus arteriosus, Pulm...	OMIM:610759
Thoracoabdominal Syndrome	Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries, Congenital diaphra...	OMIM:313850
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Neu-Laxova Syndrome 1	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Yellow subcutaneous tissue c...	OMIM:256520
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Intrauterine growth retardation, Erythema, Ventricular septal defect, Flexion contracture	OMIM:614653
Joubert Syndrome 14	Intracranial hemorrhage, Ventricular septal defect	OMIM:614424
Choanal Atresia	Cyanosis	ORPHA:137914
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Macroglossia, Int...	ORPHA:96191
X Small Rings	Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Oligohyd...	ORPHA:96201
Syndromic Diarrhea	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:84064
Den Hoed-De Boer-Voisin Syndrome	Intrauterine growth retardation, Death in adolescence, Ventricular septal defect, Oligohydramnios	OMIM:619229
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Prolonged neonatal jaundice, D...	OMIM:214100
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno...	OMIM:614609
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Mitral valve prolapse, Joint swelling, Blepharoc...	ORPHA:287
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect, Polyhydramnios, Pancreatic lymphangiectasis, Pulmonary lymphangiectasi...	ORPHA:1655
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Ventricular septal defect, Palpebral edema, Jaundice, Death in adolescence, Cam...	OMIM:614866
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hypoplastic aortic arch, Coa...	OMIM:617506
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616449
Focal Dermal Hypoplasia	Telangiectasia of the skin, Ventricular septal defect, Congenital diaphragmatic hernia, Diastasis...	ORPHA:2092
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Aortopulmonary win...	OMIM:620025
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Ventricular septal defect, Premature graying of hair, Cardio...	ORPHA:769
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ...	ORPHA:2461
Duane-Radial Ray Syndrome	Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep...	OMIM:607323
Trichohepatoenteric Syndrome 1	Ventricular septal defect, Polyhydramnios, Jaundice, Pulmonic stenosis, Intrauterine growth retar...	OMIM:222470
Kleefstra Syndrome 1	Macroglossia, Conotruncal defect	OMIM:610253
Chops Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve...	OMIM:616368
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Pulmonary artery stenosis, Increased nuchal translucency, Patent ductu...	ORPHA:79345
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema	OMIM:606232
Distal 22Q11.2 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Intrauterine growth ret...	ORPHA:261330
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:261236
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia, Coarctation of aorta	ORPHA:268249
Myasthenic Syndrome, Congenital, 21, Presynaptic	Weakness of facial musculature, Cyanosis, Knee flexion contracture	OMIM:617239
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect	ORPHA:251038
Ogden Syndrome	Torticollis, Pulmonary edema, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal ...	OMIM:300855
Opitz Gbbb Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal he...	ORPHA:2745
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscu...	OMIM:210710
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Preductal coarctation of the aorta, Neonatal...	OMIM:146510
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Bruising susceptibility, Ventricular septal defect, Flexion cont...	OMIM:227645
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Myopathy, Intrau...	ORPHA:506
Primary Hyperoxaluria	Cardiomyopathy, Acrocyanosis, Cutis marmorata	ORPHA:416
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Camptodactyly, Pulm...	OMIM:616894
C Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Myasthenia Gravis	Myositis, Acrocyanosis	ORPHA:589
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Cyanosis	OMIM:610913
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Patent ductus arteriosus, I...	ORPHA:464311
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic steno...	ORPHA:488632
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:277600
Mgat2-Cdg	Patent ductus arteriosus, Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology	ORPHA:79329
Craniofacioskeletal Syndrome	Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Atrial septal defec...	OMIM:300712
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Macroglossia, Ventricular septal defect, Patent foramen ovale	OMIM:613457
Chime Syndrome	Ventricular septal defect, Erythema, Tetralogy of Fallot, Transposition of the great arteries, Pu...	ORPHA:3474
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Polyhydramnios	OMIM:615503
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facial palsy, Coarctation o...	ORPHA:508498
Doors Syndrome	Double outlet right ventricle, Polyhydramnios	ORPHA:79500
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Atrial septa...	ORPHA:3380
3Mc Syndrome 1	Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus...	OMIM:257920
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypopla...	OMIM:274000
Trichothiodystrophy	Multiple joint contractures, Ventricular septal defect, Prematurely aged appearance, Cardiomyopat...	ORPHA:33364
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec...	OMIM:309801
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in infancy, Cyanosis, Death in childhood	OMIM:618426
Hyperoxaluria, Primary, Type I	Peripheral arterial stenosis, Acrocyanosis, Cutis marmorata, Dehydration	OMIM:259900
Autosomal Recessive Robinow Syndrome	Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly o...	ORPHA:1507
Cohen Syndrome	Intrauterine growth retardation, Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Contracture of the proximal interphalangeal joint of the 3rd finger, Ventri...	ORPHA:464738
Brain-Lung-Thyroid Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram...	ORPHA:209905
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Patent ductus arteri...	ORPHA:96121
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta...	ORPHA:444072
Coffin-Siris Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:1465
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect	OMIM:619306
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctation...	OMIM:618454
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Facial palsy, Polyhydramnios, Patent ductus arteriosus, Camptodactyly,...	OMIM:300373
Cerebrocostomandibular Syndrome	Intrauterine growth retardation, Ventricular septal defect, Death in infancy	ORPHA:1393
Weill-Marchesani Syndrome 2	Ventricular septal defect, Patent ductus arteriosus, Elbow flexion contracture, Ascending aortic ...	OMIM:608328
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
Fryns Syndrome	Ventricular septal defect, Polyhydramnios, Stillbirth, Aplasia of the left hemidiaphragm, Chyloth...	OMIM:229850
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Intrauterine growth r...	OMIM:301030
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Trichohepatoneurodevelopmental Syndrome	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Macroglossia, Distal arthrog...	OMIM:618268
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
Renal Agenesis	Ventricular septal defect, Oligohydramnios	ORPHA:411709
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Ventricular septal defect, Patent ductus arteriosus, Intrauterine gr...	ORPHA:464306
Ulnar-Mammary Syndrome	Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of finger	ORPHA:3138
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios	OMIM:600373
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi...	ORPHA:352665
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:244450
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Diets-Jongmans Syndrome	Interrupted inferior vena cava with azygous continuation, Congenital diaphragmatic hernia, Ventri...	OMIM:618846
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu...	OMIM:619534
Jacobsen Syndrome	Atrial septal defect, Intrauterine growth retardation, Flexion contracture, Ventricular septal de...	OMIM:147791
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Polyhydramnios, Retinal arteriola...	ORPHA:567
Alagille Syndrome 1	Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Prolonged neonata...	OMIM:118450
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Lymphedema, Pericardial effusion, Abnormal subcutaneou...	ORPHA:79318
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Limb hypertonia	OMIM:609460
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:251014
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Cutis marmorata, Polyhydramnios, Congenital diaphragmatic hernia, Incr...	ORPHA:818
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Camptodactyly, I...	OMIM:616145
Cornelia De Lange Syndrome 1	Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Elbow flexion contra...	OMIM:122470
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Urticaria, ...	OMIM:154400
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Varicose veins	OMIM:617107
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	OMIM:607721
Mosaic Trisomy 20	Abnormal mitral valve morphology, Intrauterine growth retardation, Dysplastic tricuspid valve, Ve...	ORPHA:1724
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Jacobsen Syndrome	Death in infancy, Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Intrau...	ORPHA:2308
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Weakness of facial musculature, Ventricular septal defect, Prolonged neonatal jaundice	OMIM:619418
Hydrolethalus Syndrome 1	Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Stillbirth, In...	OMIM:236680
Holoprosencephaly	Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ...	ORPHA:2162
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage, Interrupted aortic ...	ORPHA:163979
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
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
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
Hardikar Syndrome	Ventricular septal defect, Jaundice, Partial anomalous pulmonary venous return, Patent ductus art...	OMIM:301068
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Interrup...	OMIM:164280
Larsen Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Aortic aneurysm	OMIM:150250
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morph...	ORPHA:124
Oculodentodigital Dysplasia	Ventricular septal defect, Camptodactyly of finger	ORPHA:2710
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Joint contracture of the hand, Death in childh...	OMIM:309500
Simpson-Golabi-Behmel Syndrome	Death in infancy, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital ...	ORPHA:373
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re...	OMIM:301044
Marshall-Smith Syndrome	Ventricular septal defect, Patent ductus arteriosus, Death in childhood, Atrial septal defect, Dy...	OMIM:602535
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Atr...	ORPHA:3047
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At...	ORPHA:97360
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am...	OMIM:616268
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta, Small thenar eminence, Atria...	OMIM:105650
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Noonan Syndrome 1	Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Chylothora...	OMIM:163950
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss...	ORPHA:500095
Distal 22Q11.2 Microduplication Syndrome	Palpebral edema, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Ma...	ORPHA:261337
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Atrial septal defect, Frag...	OMIM:271640
Combined Immunodeficiency-Enteropathy Spectrum	Intrauterine growth retardation, Ventricular septal defect, Polyhydramnios	ORPHA:436252
Familial Dysautonomia	Acrocyanosis	ORPHA:1764
Restrictive Dermopathy	Multiple joint contractures, Dextrocardia, Polyhydramnios, Camptodactyly of finger, Patent ductus...	ORPHA:1662
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:619575
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Intrauterine growth retardation, Ventricular septal defect, Patent fora...	OMIM:616975
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Hypo...	ORPHA:508488
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, At...	ORPHA:904
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Flexion contracture, Mitral ...	OMIM:180849
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Ventricular septal defect, Hydrops fetalis	OMIM:263520
Meier-Gorlin Syndrome 7	Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:617063
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Ventricular septal defect, Ventricular septal hypertrophy, Oligo...	OMIM:608670
Limb Body Wall Complex	Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph...	ORPHA:2369
Degcags Syndrome	Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, P...	OMIM:619488
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Costello Syndrome	Ventricular septal defect, Polyhydramnios, Rhabdomyosarcoma, Achilles tendon contracture, Mitral ...	OMIM:218040
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Pitt-Hopkins Syndrome	Acrocyanosis	ORPHA:2896
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Miscarriage, Polyhydramnios, Interphalangeal joint contracture of fing...	ORPHA:96334
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ...	ORPHA:466791
Keutel Syndrome	Miscarriage, Ventricular septal defect, Pulmonary artery hypoplasia, Pulmonic stenosis, Periphera...	OMIM:245150
Cerebrocostomandibular Syndrome	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Elbow flexion contracture, A...	OMIM:117650
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
Zttk Syndrome	Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Atrial septal defect, I...	OMIM:617140
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Polyhydramnios, Pulmonary artery stenosis, Dilatation of the ventricul...	ORPHA:459070
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Camptoda...	OMIM:143095
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353281
Smith-Lemli-Opitz Syndrome	Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Severe photosensitivity, C...	OMIM:270400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal heart morphology, Intrau...	ORPHA:268261
Liver Disease, Severe Congenital	Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c...	OMIM:619991
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect, Aortic valve stenosis, Mitral stenosis	ORPHA:955
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Vater/Vacterl Association	Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Intraut...	OMIM:192350
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Torticollis, Ventricular septal defect, Palpebral edema, Bicuspid aortic valve, Jaundice, Dilatat...	OMIM:619475
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis	ORPHA:293987
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Abnor...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Abnor...	ORPHA:353277
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f...	ORPHA:3472
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Knee flexion contracture, Transpo...	OMIM:614976
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:102500
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A...	ORPHA:363700
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Ventricular septal defect, Prolonged neonatal jaundice	OMIM:619525
Coffin-Siris Syndrome 1	Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Patent ductus arteri...	OMIM:135900
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Flexion contract...	OMIM:194050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Anomalous origin of l...	ORPHA:438213
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Omodysplasia 1	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	OMIM:258315
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aor...	ORPHA:285
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Facial hypotonia, Polyhydramnios, Congenital diaphragmatic hernia, Dia...	OMIM:312870
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste...	OMIM:235730
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Lower-limb joint contracture, Ventricular septal defect	ORPHA:513456
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Patent ductus arteriosus, E...	OMIM:268300
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Johanson-Blizzard Syndrome	Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Anasarca, Severe intra...	OMIM:243800
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Cornelia De Lange Syndrome	Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic hernia, Increased nuchal tra...	ORPHA:199
Digeorge Syndrome	Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Truncus arteriosus,...	OMIM:188400
Wolf-Hirschhorn Syndrome	Atrial septal defect, Intrauterine growth retardation, Decreased muscle mass, Ventricular septal ...	OMIM:194190
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Distal arthrogryposis,...	ORPHA:672
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Sotos Syndrome	Hip contracture, Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, ...	ORPHA:821
Penile Agenesis	Atrial septal defect, Ventricular septal defect, Oligohydramnios	ORPHA:49
Peters-Plus Syndrome	Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Pulmonic st...	OMIM:261540
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata	OMIM:303600
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
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept...	OMIM:619522
Genitopatellar Syndrome	Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Atrial sept...	OMIM:606170
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:147920
Ulnar-Mammary Syndrome	Elbow flexion contracture, Ventricular septal defect	OMIM:181450
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Pallister-Killian Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic ...	OMIM:601803
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ...	ORPHA:261552
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect	OMIM:620330
Craniofacial Microsomia 1	Ventricular septal defect, Hypoplasia of facial musculature, Patent ductus arteriosus, Coarctatio...	OMIM:164210
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Intrauterine growth r...	OMIM:216340

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 Daam1

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 Daam1.

No publications found that use IMPC mice or data for Daam1.

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

MGI Allele	Allele Type	Produced
Daam1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Daam1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Daam1^{tm1e(EUCOMM)Hmgu}	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: Daam1 MGI:1914596

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Embryo LacZ

MicroCT E14.5-E15.5

X-ray

Adult LacZ

X-ray

X-ray

X-ray

Auditory Brain Stem Response

Immunophenotyping

Immunophenotyping

Human diseases caused by Daam1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data