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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 blood urea nitrogen level	Daam1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.75×10^-05
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

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

Adult LacZ

LacZ Images Wholemount

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

1 Images

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Immunophenotyping

Panel B FCS file(s)

8 Images

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Auditory Brain Stem Response

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

4 Images

View images

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 (794 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
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia	OMIM:620085
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Tricuspid Atresia	Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Persist...	ORPHA:1209
Nephrosialidosis	Pericardial effusion, Bone-marrow foam cells, Death in childhood, Ascites	OMIM:256150
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Congenital Heart Block	Intrauterine growth retardation, Endocardial fibroelastosis, Pleural effusion, Oligohydramnios, P...	ORPHA:60041
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric...	OMIM:618773
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Death...	OMIM:618845
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Death in childhood, Spinal muscular atrophy, Ventricular...	OMIM:253300
Hydrops Fetalis	Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni...	ORPHA:1041
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Congenital Pulmonary Lymphangiectasia	Ascites, Pleural effusion, Cyanosis, Hydrops fetalis, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Eng-Strom Syndrome	Intrauterine growth retardation, Camptodactyly of finger, Abnormal cardiac septum morphology, Ven...	ORPHA:1937
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ...	OMIM:613854
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi...	ORPHA:860
Genitopalatocardiac Syndrome	Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula...	OMIM:231060
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e...	OMIM:614702
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Cyanosis, Myopathy	ORPHA:91130
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie...	OMIM:115197
Congenital Tricuspid Valve Dysplasia	Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval...	ORPHA:555874
Nemaline Myopathy 9	Polyhydramnios, Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect	OMIM:615731
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Lower eyelid edema, Abnormal cerebral vascular morphology, Premature skin ...	ORPHA:363705
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Death in infancy, Ventricular septal defect	OMIM:614876
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ...	OMIM:179613
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Multiple muscular ventricular septal defects, Polyhydramnios, Death in infancy, Aortic aneurysm, ...	OMIM:620070
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o...	OMIM:217095
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve...	OMIM:616749
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Cranioacrofacial Syndrome	Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati...	OMIM:220210
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Cantu Syndrome	Congenital hypertrophy of left ventricle, Lymphedema, Cardiomegaly, Bicuspid aortic valve, Perica...	OMIM:239850
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Death in infancy, Abnormal mitral valve morphology, Ventricu...	ORPHA:1354
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Tetralogy of Fallot, Cyanosis, Persistent left superior vena cava, Overriding aorta, Double outle...	ORPHA:3304
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Cyanosis, Truncus arteriosus, Ventricular septal def...	ORPHA:3426
Adams-Oliver Syndrome 4	Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:615297
Perching Syndrome	Camptodactyly, Cyanosis, Joint contracture	OMIM:617055
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Death in ...	OMIM:613759
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ...	OMIM:249670
Criss-Cross Heart	Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Cyanosis, Transposi...	ORPHA:1461
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve...	ORPHA:477817
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Cyanosis, Dea...	OMIM:617478
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Anasarca, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, A...	OMIM:261740
Hypocomplementemic Urticarial Vasculitis	Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Pericardial effusion, Sma...	ORPHA:36412
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ...	OMIM:618719
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Drug-Induced Lupus Erythematosus	Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci...	ORPHA:231111
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou...	OMIM:618316
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Neonatal death, Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:615524
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste...	OMIM:618775
Meckel Syndrome, Type 8	Pericardial effusion	OMIM:613885
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve...	OMIM:306955
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Hydrops fetalis, Atrial septal defect, Ascites	OMIM:608776
Acute Interstitial Pneumonia	Peripheral edema, Pleural effusion, Cyanosis, Pericardial effusion, Hypoxemia	ORPHA:79126
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Cyanosis	OMIM:263000
Pulmonary Capillary Hemangiomatosis	Pleural effusion, Cyanosis, Pulmonary edema, Abnormal pulmonary vein morphology, Pericardial effu...	ORPHA:199241
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef...	OMIM:619313
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep...	OMIM:614980
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Myofiber disarray, Polyhydramnios, Patent foramen ovale, Ventricular sept...	OMIM:620519
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:617992
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular...	OMIM:616276
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor...	ORPHA:99050
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen ovale, Ventricular septal...	ORPHA:26793
Microcephaly-Cardiomyopathy Syndrome	Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph...	ORPHA:2257
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ...	OMIM:619657
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d...	ORPHA:439
Indomethacin Embryofetopathy	Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis	ORPHA:1909
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
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
Aortic Arch Interruption	Abnormal heart morphology, Cyanosis, Ventricular septal defect, Truncus arteriosus, Bicuspid aort...	ORPHA:2299
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ...	ORPHA:261243
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat...	OMIM:607941
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Periorbital edema, Joint contracture of the hand, Intestinal lymphangiectasia, Lymphedema, Pleura...	OMIM:235510
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect	OMIM:616816
Catel-Manzke Syndrome	Atrial septal defect, Camptodactyly of finger, Ventricular septal defect	ORPHA:1388
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death	OMIM:601612
Meacham Syndrome	Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sept...	OMIM:608978
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Congenital Enterovirus Infection	Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrops fetalis, Pe...	ORPHA:292
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Neuralgic Amyotrophy	Acrocyanosis, Upper limb muscle weakness, Scapular winging, Upper limb amyotrophy	ORPHA:2901
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Pericardial effusion, Muscular dystrophy, Dilated cardiomyopathy, Abnormal myocardium morphology	ORPHA:300751
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior...	ORPHA:244
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	ORPHA:251076
Left Ventricular Noncompaction 1	Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop...	OMIM:604169
Primary Intestinal Lymphangiectasia	Generalized edema, Intestinal lymphangiectasia, Ascites, Pleural effusion, Abnormal lymphatic ves...	ORPHA:90362
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Abnormal heart morphology...	ORPHA:980
Congenital Disorder Of Glycosylation, Type Ia	Cardiomyopathy, Stroke-like episode, Death in childhood, Death in infancy, Nonimmune hydrops feta...	OMIM:212065
Asbestos Intoxication	Cor pulmonale, Oxygen desaturation on exertion, Cyanosis, Hypoxemia, Edema, Myocardial fibrosis	ORPHA:2302
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:614432
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death	OMIM:620203
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert...	OMIM:618280
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Alpha-Thalassemia	Generalized edema, Pleural effusion, Pericardial effusion, Jaundice, Hydrops fetalis	ORPHA:846
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Intrauterine growth retardation, Ventricular septal defect, Double outlet right ventricle, Polyhy...	OMIM:301056
Alkuraya-Kucinskas Syndrome	Pleural effusion, Camptodactyly, Pericardial effusion, Arthrogryposis multiplex congenita, Edema	OMIM:617822
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th...	OMIM:270100
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Lambert Syndrome	Jaundice, Intrauterine growth retardation, Ventricular septal defect	ORPHA:1296
Poems Syndrome	Ascites, Pleural effusion, Plethora, Pericardial effusion, Acrocyanosis, Edema	ORPHA:2905
Cardiomyopathy, Dilated, 1A	Pericardial effusion, Dilated cardiomyopathy	OMIM:115200
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu...	OMIM:605376
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit...	OMIM:614262
Pediatric Systemic Lupus Erythematosus	Ascites, Pleural effusion, Myositis, Pericardial effusion, Edema	ORPHA:93552
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Cardiomyopathy, Dilated, 2G	Dilated cardiomyopathy, Myofiber disarray, Neonatal death, Left atrial enlargement, Increased Z-d...	OMIM:619897
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Aicardi-Goutieres Syndrome 9	Edema, Ascites, Intrauterine growth retardation, Left ventricular hypertrophy, Pericardial effusi...	OMIM:619487
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Double Outlet Left Ventricle	Cyanosis, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary ...	ORPHA:3427
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Ventricular septal defect	OMIM:613730
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de...	OMIM:616652
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Maternal Phenylketonuria	Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Intrauterine growth retar...	ORPHA:2209
Orthostatic Hypotension 1	Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Hyp...	OMIM:223360
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do...	ORPHA:371428
Congenital Heart Defects, Multiple Types, 3	Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal...	OMIM:614954
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis, Bicuspid aortic valve, Subvalvular aortic stenosis...	OMIM:620067
Q Fever	Vasculitis, Abnormal vascular morphology, Abnormal heart valve morphology, Pleural effusion, Purp...	ORPHA:781
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro...	ORPHA:2326
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy	ORPHA:444013
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Transposition of...	ORPHA:1913
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion	OMIM:613011
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Death in infancy, Ventricular septal defect	OMIM:616277
Xk Aprosencephaly Syndrome	Polyhydramnios, Atrial septal defect, Ventricular septal defect	ORPHA:3469
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Ventricular sep...	ORPHA:1166
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Hadziselimovic Syndrome	Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pu...	OMIM:612946
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial...	ORPHA:216694
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Congenital Fibrinogen Deficiency	Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Right v...	ORPHA:335
Pericardial And Diaphragmatic Defect	Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit...	ORPHA:2847
Diarrhea 10, Protein-Losing Enteropathy Type	Anasarca, Ascites, Polyhydramnios, Pleural effusion, Death in infancy, Pericardial effusion	OMIM:618183
Wolcott-Rallison Syndrome	Ascites, Double outlet right ventricle, Atrial septal defect, Jaundice, Dehydration	ORPHA:1667
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ...	OMIM:615996
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect	OMIM:614886
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Kaposiform Lymphangiomatosis	Bruising susceptibility, Pleural effusion, Abnormal lymphatic vessel morphology, Ecchymosis, Peri...	ORPHA:464329
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly, Cyanosis	ORPHA:391428
Right Atrial Isomerism	Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra...	OMIM:208530
Noonan Syndrome 12	Tetralogy of Fallot, Polyhydramnios, Ventricular septal defect	OMIM:618624
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A...	ORPHA:1686
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Grange Syndrome	Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Alg9-Cdg	Hypoplasia of the musculature, Abnormal heart morphology, Oligohydramnios, Abnormal renal artery ...	ORPHA:79328
Li-Campeau Syndrome	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:619189
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Polysyndactyly With Cardiac Malformation	Polyhydramnios, Stillbirth, Atrial septal defect, Ventricular septal defect	OMIM:263630
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok...	ORPHA:1457
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Palmoplantar cutis laxa...	OMIM:615355
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:618330
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl...	OMIM:619542
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Polyh...	ORPHA:3405
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
14Q24.1Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P...	ORPHA:401935
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Waardenburg Syndrome Type 3	Acrocyanosis, Atrial septal defect, Camptodactyly of finger	ORPHA:896
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Arthr...	OMIM:607598
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial septal defect, H...	OMIM:601927
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Intrauterine growth retardation, Abnormal aortic morphology, Ventricular sept...	ORPHA:2516
Classical-Like Ehlers-Danlos Syndrome Type 2	Aortic root aneurysm, Bruising susceptibility, Prominent veins on trunk, Mitral valve prolapse, C...	ORPHA:536532
Congenital Tracheomalacia	Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti...	ORPHA:95430
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Ventricular septal defect	OMIM:209770
Breath-Holding Spells	Cyanosis	OMIM:607578
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Intrauterine growth retardation, Knee flexion contracture, Cyanotic ep...	ORPHA:284417
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Intrauterine growth retardation, V...	OMIM:618164
Hereditary Bullous Dystrophy, Macular Type	Abnormal heart morphology, Acrocyanosis	ORPHA:1867
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus...	OMIM:126320
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal...	ORPHA:77261
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Intr...	OMIM:601186
Myhre Syndrome	Aortic valve stenosis, Skeletal muscle hypertrophy, Intrauterine growth retardation, Ventricular ...	OMIM:139210
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A...	OMIM:612561
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Intrauterine growth retardation, Ventricular septal defect	ORPHA:2772
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ...	OMIM:615067
Pulmonary Arteriovenous Malformation	Bacterial endocarditis, Transient ischemic attack, Ischemic stroke, Cyanosis, Pulmonary arteriove...	ORPHA:2038
Down Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten...	OMIM:190685
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:618974
Congenital Rubella Syndrome	Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Jaundice, Paten...	ORPHA:290
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Necrotizing Enterocolitis	Abnormal heart morphology, Cyanosis, Edema, Ascites	ORPHA:391673
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Weill-Marchesani Syndrome	Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect	ORPHA:3449
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Aicardi-Goutieres Syndrome 7	Vasculitis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Limb h...	OMIM:615846
Buerger Disease	Vasculitis, Livedo reticularis, Acrocyanosis	ORPHA:36258
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:261183
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Oligohydramnios, Mitral stenosis, Pate...	ORPHA:163956
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Hypoplastic rig...	OMIM:618142
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Transient ischemic atta...	ORPHA:183
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va...	ORPHA:284169
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent ductu...	OMIM:618652
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Flexion...	OMIM:613870
Hennekam Syndrome	Arteriovenous malformation, Chylothorax, Lymphedema, Camptodactyly of finger, Ascites, Pulmonary ...	ORPHA:2136
Methimazole Embryofetopathy	Intrauterine growth retardation, Abnormal aortic morphology, Ventricular septal defect, Coarctati...	ORPHA:1923
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Cutis marmorata, Ventricular septal defect	OMIM:602501
Thiamine-Responsive Megaloblastic Anemia Syndrome	Stroke, Atrial septal defect, Ventricular septal defect	ORPHA:49827
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Adams-Oliver Syndrome 6	Truncus arteriosus, Cutis marmorata, Ventricular septal defect	OMIM:616589
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Aortic dissection, Arterial calcification, Medial calcification of large...	ORPHA:51608
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial septal defect	OMIM:249270
Carnitine-Acylcarnitine Translocase Deficiency	Rhabdomyolysis, Cyanosis, Cardiomyopathy	ORPHA:159
Aase-Smith Syndrome I	Flexion contracture, Death in infancy, Ventricular septal defect	OMIM:147800
Congenital Tracheal Stenosis	Hypoplastic left heart, Fetal ascites, Anomalous origin of left pulmonary artery from ascending a...	ORPHA:141127
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Ascites, Intrauterine growth retardation, Oligohydramnios, Ventricular septal defect, Nonimmune h...	OMIM:617021
Atrial Septal Defect, Coronary Sinus Type	Transient ischemic attack, Anomalous origin of the left common carotid artery from the main pulmo...	ORPHA:99104
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Limb h...	OMIM:619909
Congenital Gerbode Defect	Bacterial endocarditis, Peripheral edema, Ventricular septal defect, Constrictive pericarditis, P...	ORPHA:99095
Fucosidosis	Cardiomegaly, Vascular skin abnormality, Acrocyanosis, Decreased muscle mass	ORPHA:349
Hereditary Methemoglobinemia	Cyanosis	ORPHA:621
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di...	ORPHA:3282
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Camptodactyly, Pericardial effusion, Patent ductus arteriosus, P...	ORPHA:1272
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Ventricular septal...	ORPHA:1425
Joubert Syndrome 18	Camptodactyly, Intrauterine growth retardation, Ventricular septal defect	OMIM:614815
Filippi Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:272440
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Transposition ...	OMIM:314390
Warsaw Breakage Syndrome	Tetralogy of Fallot, Cutis marmorata, Intrauterine growth retardation, Ventricular septal defect	OMIM:613398
Chédiak-Higashi Syndrome	Bruising susceptibility, Pleural effusion, Pericardial effusion, Jaundice, Cutaneous photosensiti...	ORPHA:167
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Coarctation of aorta, Ventricular septal defect	OMIM:620210
Diabetic Embryopathy	Tetralogy of Fallot, Abnormal aortic morphology, Ventricular septal defect, Aplasia/Hypoplasia of...	ORPHA:1926
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615279
Jansen-De Vries Syndrome	Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect	OMIM:617450
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Death in infancy, Atrial septal...	OMIM:208085
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Death in childhood, Nonimmune hydrops feta...	OMIM:620609
Prune Belly Syndrome	Tetralogy of Fallot, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Aplasia of...	ORPHA:2970
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Abnormal heart morphology, Diastasis recti, Polyhydramnios, Ventricular septal defect	ORPHA:254534
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ...	ORPHA:251071
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ...	ORPHA:1727
Atrial Septal Defect, Ostium Primum Type	Pulmonary artery dilatation, Peripheral edema, Cyanosis, Left atrial enlargement, Left ventricula...	ORPHA:99106
Chromosome 5Q12 Deletion Syndrome	Increased nuchal translucency, Patent foramen ovale, Ventricular septal defect, Atrial septal def...	OMIM:615668
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cutis marmorata, Death in childhood...	OMIM:612938
Timothy Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Patent ductus...	OMIM:601005
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv...	ORPHA:3097
Ulnar Agenesis And Endocardial Fibroelastosis	Endocardial fibroelastosis, Hydrops fetalis, Neonatal death	OMIM:276822
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis, Skeletal muscle atrophy	ORPHA:2400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Pleural effusion, Ventricu...	OMIM:616897
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Abnormal heart morphology, Oligohydramnios, Increased nuchal translucency, Patent foramen ovale, ...	OMIM:618494
Giant Cell Arteritis	Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal...	ORPHA:397
Distal Deletion 15Q	Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl...	ORPHA:1596
Aicardi-Goutieres Syndrome 1	Vasculitis, Erythema, Cardiomyopathy, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Purpura	OMIM:225750
Congenital Myasthenic Syndrome	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Distal low...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Distal low...	ORPHA:98914
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 3rd finger, Double outlet right ventricl...	OMIM:618223
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
High Altitude Pulmonary Edema	Pulmonary edema, Hypoxemia, Cyanosis	ORPHA:330012
Frank-Ter Haar Syndrome	Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o...	OMIM:249420
Tyshchenko Syndrome	Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Polyhydramnios,...	OMIM:615102
Meckel Syndrome 14	Oligohydramnios, Cyanosis, Increased nuchal translucency, Single ventricle	OMIM:619879
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:500159
Transaldolase Deficiency	Intrauterine growth retardation, Oligohydramnios, Patent foramen ovale, Ventricular septal defect...	OMIM:606003
Lambotte Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:245552
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular se...	ORPHA:392
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Peripheral pulmonary artery stenosis, Joint contracture of the hand, Tetralogy of Fallot, Ventric...	OMIM:280000
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Intrauterine growth retardation, Oligohydramnios,...	OMIM:617022
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Contractu...	OMIM:617201
Serkal Syndrome	Oligohydramnios, Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect	ORPHA:139466
Eosinophilic Fasciitis	Myositis, Muscular edema, Acrocyanosis, Edema	ORPHA:3165
Roifman Syndrome	Noncompaction cardiomyopathy, Intrauterine growth retardation, Hip contracture, Ventricular septa...	OMIM:616651
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Ventricular septal defect, Jaundice, Arthrogryposis multiplex congenita, Right ...	OMIM:613404
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Dextrocardia, Ventricular septal defect	OMIM:618067
Intellectual Developmental Disorder, Autosomal Dominant 47	Intrauterine growth retardation, Increased nuchal translucency, Ventricular septal defect	OMIM:617635
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sep...	OMIM:617751
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Secundum atrial septal defect, Tetralogy of Fallot, Intrauterine growt...	OMIM:612562
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect	ORPHA:2345
Contractural Arachnodactyly, Congenital	Calf muscle hypoplasia, Aortic root aneurysm, Elbow flexion contracture, Mitral valve prolapse, V...	OMIM:121050
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Cyanosis, Misalignment of the pulmonary veins, Neonatal death	OMIM:265120
Cockayne Syndrome Type 1	Increased blood urea nitrogen	ORPHA:90321
Emanuel Syndrome	Aortic valve stenosis, Intrauterine growth retardation, Oligohydramnios, Congenital diaphragmatic...	OMIM:609029
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,...	ORPHA:2306
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Woods Syndrome	Ventricular septal defect	OMIM:615236
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Trisomy X	Atrial septal defect, Ventricular septal defect	ORPHA:3375
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Cyanosis, Hypoxemia	ORPHA:70587
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	ORPHA:7
Phaver Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Coarctation ...	ORPHA:2876
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V...	OMIM:618619
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy...	OMIM:600001
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Polyhydramnios, Ventricular septal defect	ORPHA:2256
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent...	OMIM:301043
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Atrial septal defec...	OMIM:603387
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Rag...	OMIM:252010
Acrocardiofacial Syndrome	Camptodactyly of finger, Tetralogy of Fallot, Intrauterine growth retardation, Mitral stenosis, D...	ORPHA:2008
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Death in infancy, Ventricular septal defect	ORPHA:452
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Arthrogryposis-like hand anomaly, Abnormal heart morphology, Patent foramen ovale, Ventricular se...	ORPHA:369891
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Dextrocardia, Ventricular septal defect	OMIM:616037
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi...	OMIM:619910
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Intrauterine growth retardation, Atrial septal defect, Ventricular sep...	ORPHA:75389
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	ORPHA:210122
Coffin-Siris Syndrome 7	Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Polyhydr...	OMIM:618027
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Lower limb hypertonia, Ventricular septal defect	OMIM:619995
Eisenmenger Syndrome	Bacterial endocarditis, Generalized edema, Abnormal heart morphology, Tetralogy of Fallot, Atriov...	ORPHA:97214
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect	ORPHA:2143
Brachydactyly, Type B1	Camptodactyly, Joint contracture of the hand, Ventricular septal defect	OMIM:113000
Burn-Mckeown Syndrome	Hypomimic face, Atrial septal defect, Ventricular septal defect	OMIM:608572
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Transposition of the great arteries, Patent foramen ovale	OMIM:616789
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Pulmonary edema, Dilated cardiomyopathy	ORPHA:73224
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat...	ORPHA:329224
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary...	OMIM:265380
Noonan Syndrome 9	Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Reduced subcutaneous adipose tissue, Hip contracture, Ventricular septal defect, Hypopl...	OMIM:619503
Tarp Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Cyanosis, Persistent left superior vena cav...	ORPHA:2886
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in childhood, Death in infancy, Ventricular septal defect	OMIM:616901
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Increased nuchal translucency, Patent foramen ovale, Ventricular septal defect, Atrial septal def...	OMIM:618870
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Seckel Syndrome 9	Pulmonary artery hypoplasia, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ve...	OMIM:616777
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Pyruvate Dehydrogenase E1-Alpha Deficiency	Intrauterine growth retardation, Flexion contracture, Ventricular septal defect	ORPHA:79243
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Camptodactyly, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:301039
Congenital Disorder Of Glycosylation, Type Iil	Intrauterine growth retardation, Death in infancy, Ventricular septal defect, Atrial septal defec...	OMIM:614576
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect	OMIM:619895
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral stenosis, Mi...	OMIM:616564
Restrictive Dermopathy 2	Intrauterine growth retardation, Cyanosis	OMIM:619793
Verheij Syndrome	Truncus arteriosus, Intrauterine growth retardation, Ventricular septal defect	OMIM:615583
Lymphangioleiomyomatosis	Chylothorax, Lymphedema, Ascites, Pulmonary lymphangiomyomatosis, Chylopericardium	ORPHA:538
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Microcephaly-Capillary Malformation Syndrome	Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:614261
Aminopterin/Methotrexate Embryofetopathy	Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, Ventricular septal ...	ORPHA:1908
Atrial Septal Defect, Ostium Secundum Type	Transient ischemic attack, Cyanosis, Abnormal mitral valve morphology, Stroke, Right atrial enlar...	ORPHA:99103
Kawasaki Disease	Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul...	ORPHA:2331
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Intrauterine growth retardation, Flexion contracture, Atrial septal defect, Ventricular septal de...	OMIM:617452
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V...	OMIM:619472
Kagami-Ogata Syndrome	Diastasis recti, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Flexion contrac...	OMIM:608149
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Microphthalmia, Syndromic 2	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Contracture of the proxi...	OMIM:300166
Pelger-Huet Anomaly	Lower limb hypertonia, Foot dorsiflexor weakness, Ventricular septal defect	OMIM:169400
Esophageal Atresia	Tetralogy of Fallot, Cyanosis, Ventricular septal defect, Coarctation of aorta, Polyhydramnios	ORPHA:1199
Chiari Malformation Type Ii	Limb muscle weakness, Cyanosis	OMIM:207950
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Braddock-Carey Syndrome 1	Camptodactyly, Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect	OMIM:617516
Emanuel Syndrome	Aortic valve stenosis, Intrauterine growth retardation, Oligohydramnios, Congenital diaphragmatic...	ORPHA:96170
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect	ORPHA:1488
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Chromosome 6Pter-P24 Deletion Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial sept...	OMIM:612582
Unilateral Polymicrogyria	Abnormal heart morphology, Stroke, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Spondylo-Ocular Syndrome	Facial hypotonia, Ventricular septal defect	ORPHA:85194
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Joint contracture of the 5th finger	OMIM:614407
Crimean-Congo Hemorrhagic Fever	Subdural hemorrhage, Spontaneous hematomas, Ascites, Ecchymosis, Purpura, Myocarditis, Jaundice, ...	ORPHA:99827
Congenital Heart Defects And Skeletal Malformations Syndrome	Aortic root aneurysm, Intrauterine growth retardation, Cutis marmorata, Congenital diaphragmatic ...	OMIM:617602
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis	ORPHA:1302
Suleiman-El-Hattab Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618950
Transketolase Deficiency	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,...	ORPHA:488618
Laubry-Pezzi Syndrome	Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv...	ORPHA:99094
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Limb joint contracture, Intrauterine growth retardation, Atrial septal defect, Ventricular septal...	ORPHA:505237
Multiple Mitochondrial Dysfunctions Syndrome 7	Partial atrioventricular canal defect, Cyanosis	OMIM:620423
Histiocytoid Cardiomyopathy	Stroke-like episode, Cyanosis, Ventricular septal defect, Cardiomegaly, Pulmonary edema	ORPHA:137675
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra...	ORPHA:2255
Trisomy 13	Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Hydrops fetalis...	ORPHA:3378
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pleural effusion, Hypoxemia	OMIM:181000
Thakker-Donnai Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventricula...	ORPHA:1780
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Knee flexion contracture, Coronary artery atherosclerosis, Ventricular s...	ORPHA:435638
Rere-Related Neurodevelopmental Syndrome	Abnormal heart morphology, Intrauterine growth retardation, Ventricular septal defect	ORPHA:494344
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Camptodactyly of finger, Ventricular septal defect, Limb hypertonia, Pol...	OMIM:616920
Gitelman Syndrome	Pericardial effusion, Rhabdomyolysis, Varicose veins	ORPHA:358
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Patent foramen ovale, Ventricular septal defect	OMIM:614961
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
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Beck-Fahrner Syndrome	Cardiomegaly, Facial hypotonia, Ventricular septal defect	OMIM:618798
Trisomy 1Q	Camptodactyly of finger, Increased nuchal translucency, Congenital diaphragmatic hernia, Ventricu...	ORPHA:261344
Pentalogy Of Cantrell	Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Ventricula...	ORPHA:1335
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Kapur-Toriello Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Transposition of the great a...	OMIM:253800
Costello Syndrome	Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal...	ORPHA:3071
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Holt-Oram Syndrome	Hypoplasia of deltoid muscle, Mitral valve prolapse, Ventricular septal defect, Atrial septal def...	OMIM:142900
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Fanconi Anemia, Complementation Group B	Intrauterine growth retardation, Death in infancy, Ventricular septal defect, Coarctation of aort...	OMIM:300514
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Lymphedema, Pancreatic lymphangiectasis, Ascites, Death in infancy, Ventricular septal defect, Th...	OMIM:235255
Noonan Syndrome 4	Bruising susceptibility, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal de...	OMIM:610733
Tetrasomy 5P	Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis	ORPHA:3309
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:619769
Insulin-Like Growth Factor I, Resistance To	Intrauterine growth retardation, Reduced subcutaneous adipose tissue, Patent foramen ovale, Ventr...	OMIM:270450
Noonan Syndrome 2	Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increased nuchal tran...	OMIM:605275
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Tongue telangiectasia, Dilatation of mes...	OMIM:610655
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se...	OMIM:153400
Kapur-Toriello Syndrome	Joint contracture of the hand, Camptodactyly of finger, Intrauterine growth retardation, Ventricu...	OMIM:244300
Carpenter Syndrome 1	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Transposition of t...	OMIM:201000
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Congenital muscular t...	ORPHA:457279
Ververi-Brady Syndrome	Intrauterine growth retardation, Transposition of the great arteries	OMIM:617982
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
19P13.3 Microduplication Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:447980
Meckel Syndrome, Type 4	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect	OMIM:611134
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Oxygen desaturation on exertion, Hypoxemia, Atrial septal defect, Ventricular septal defect	OMIM:610978
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Ventricular septal defect	ORPHA:3078
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta, Abnormal ca...	ORPHA:96147
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Intrauterine growth retardation, Oligohydramnios, Congenital diaphragmatic hernia, Ventricular se...	OMIM:611812
Telangiectasia, Hereditary Hemorrhagic, Type 1	Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Telangiectasia, Arteriovenous fistu...	OMIM:187300
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Erythema, Purpura, Acrocyanosis, Urticaria	ORPHA:343
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Sifrim-Hitz-Weiss Syndrome	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Paten...	OMIM:617159
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Patent ductus arteriosus, Atrial septal defect, Scapular winging, Ventricular septal defect	OMIM:617061
Tsh-Secreting Pituitary Adenoma	Pericardial effusion	ORPHA:91347
Myopathy With Extrapyramidal Signs	Calf muscle hypertrophy, Ventricular septal defect	OMIM:615673
Filippi Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:3255
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Short Stature-Micrognathia Syndrome	Intrauterine growth retardation, Skeletal muscle hypertrophy, Ventricular septal defect	OMIM:617164
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abnormal heart morphology, Polyhydramnios, Neonatal death	OMIM:619362
Surfactant Metabolism Dysfunction, Pulmonary, 3	Hypoxemia, Cyanosis, Death in infancy, Neonatal death	OMIM:610921
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect	OMIM:620511
Sepsis In Premature Infants	Cyanosis, Petechiae, Jaundice, Purpura, Edema	ORPHA:90051
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Intrauterine growth retardation, Oligohydramnios, Patent foramen ovale, Ventricular septal defect...	OMIM:620113
Mosaic Trisomy 9	Camptodactyly of finger, Abnormal heart valve morphology, Intrauterine growth retardation, Endoca...	ORPHA:99776
Phace Association	Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br...	OMIM:606519
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Ventricular septal defect, Subvalvular...	OMIM:613001
Idiopathic Pulmonary Fibrosis	Orthodeoxia, Acrocyanosis	ORPHA:2032
19P13.12 Microdeletion Syndrome	Intrauterine growth retardation, Arthrogryposis multiplex congenita, Atrial septal defect, Ventri...	ORPHA:254346
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Atrial septal defect, Patent foramen ovale, Ventricular septal d...	OMIM:609053
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Pulmonary Alveolar Microlithiasis	Oxygen desaturation on exertion, Peripheral edema, Calcification of the aorta, Cyanosis, Mitral v...	ORPHA:60025
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Biventricular hypertrophy, Left ventricular hypertrophy, Patent foramen ovale, Ventricular septal...	OMIM:615474
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Limb hypertonia, Cyanosis	OMIM:619580
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:220500
Ritscher-Schinzel Syndrome 2	Pulmonary artery hypoplasia, Camptodactyly of finger, Ventricular septal defect, Atrial septal de...	OMIM:300963
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Vascular dilatation, Ventricular septal defect	OMIM:219730
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Tetralogy of Fallot, Death in childhood, Ventricular septal defect, Coar...	OMIM:600460
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Edema, Ventricular septal defect	OMIM:618348
Acquired Purpura Fulminans	Intracranial hemorrhage, Acrocyanosis, Macular purpura	ORPHA:49566
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Gm1 Gangliosidosis	Cardiomyopathy, Cherry red spot of the macula, Abnormal heart morphology, Camptodactyly of finger...	ORPHA:354
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis, Foam cells	ORPHA:747
Ogden Syndrome	Pulmonary artery stenosis, Torticollis, Ventricular septal defect	ORPHA:276432
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular...	OMIM:115470
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Elbow flexion contracture, Facial telangiectasia, Joint contracture of t...	OMIM:602782
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Absence of the pulmonary valve, Intrauterine growth retardation, Ventricul...	OMIM:601808
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intrauterine growth retardation, Death in childhood, Death in infancy, Ventricular septal defect,...	OMIM:243150
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Intrauterine growth retardation, Polyhydramnios, Ventricular septal defect, Atrial septal defect,...	OMIM:617360
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Dilation of Virchow-Robin spaces, Contracture of the proximal interphalangeal joint of the 2nd fi...	OMIM:300998
De Barsy Syndrome	Progeroid facial appearance, Prominent veins on trunk, Decreased muscle mass, Intrauterine growth...	ORPHA:2962
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Carotid artery occlusion, Aortic valve calcificat...	ORPHA:740
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal heart morphology, Ventricular septal defect	ORPHA:404440
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Loeys-Dietz Syndrome 5	Aortic root aneurysm, Bruising susceptibility, Decreased muscle mass, Reduced subcutaneous adipos...	OMIM:615582
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect	OMIM:619123
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventri...	OMIM:614294
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ...	OMIM:620024
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Intrauterine growth retardation, Abnormal vena cava morphology, Ventricular septal defect	ORPHA:166035
Mosaic Variegated Aneuploidy Syndrome 2	Intrauterine growth retardation, Ventricular septal defect, Coarctation of aorta, Subvalvular aor...	OMIM:614114
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Noonan Syndrome 3	Bruising susceptibility, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal d...	OMIM:609942
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa...	ORPHA:453499
Alagille Syndrome	Peripheral pulmonary artery stenosis, Intrauterine growth retardation, Ventricular septal defect,...	ORPHA:52
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Intracranial hemorrhage, Ventricular septal defect	ORPHA:369929
Recombinant 8 Syndrome	Camptodactyly of finger, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery stenosi...	ORPHA:96167
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Charge Syndrome	Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,...	OMIM:214800
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	ORPHA:2519
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Zellweger Syndrome	Jaundice, Death in infancy, Ventricular septal defect	ORPHA:912
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	ORPHA:457193
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Increased nuchal translucency, Partial atrioventricular canal defe...	OMIM:620066
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:145420
Sotos Syndrome	Muscular ventricular septal defect, Ventricular septal defect, Atrial septal defect, Prolonged ne...	OMIM:117550
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Dermatomyositis	Vasculitis, Periorbital edema, Erythema, Shawl sign, V-sign, Inflammatory myopathy, Myositis, Fac...	ORPHA:221
Short-Rib Thoracic Dysplasia 12	Ascites, Intrauterine growth retardation, Patent foramen ovale, Neonatal death, Ventricular septa...	OMIM:269860
ERI1-related disease	Abnormal heart morphology, Intrauterine growth retardation, Ventricular septal defect	OMIM:608739
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Ascending tubular aorta aneurysm, Flexion contracture, Atrial septal defect, Ventricular septal d...	OMIM:309520
Koolen-De Vries Syndrome	Aortic root aneurysm, Intrauterine growth retardation, Ventricular septal defect, Bicuspid aortic...	OMIM:610443
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
19Q13.11 Microdeletion Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:217346
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Aicardi-Goutières Syndrome	Moyamoya phenomenon, Hypertrophic cardiomyopathy, Cutis marmorata, Calcification of the aorta, Mu...	ORPHA:51
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Telangiectasia, Hereditary Hemorrhagic, Type 2	Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral art...	OMIM:600376
Lateral Meningocele Syndrome	Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, Patent ...	OMIM:130720
Pseudotrisomy 13 Syndrome	Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s...	OMIM:264480
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Mosaic Trisomy 1	Camptodactyly of finger, Elbow flexion contracture, Increased nuchal translucency, Congenital dia...	ORPHA:1692
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Ventricu...	OMIM:178110
Kleefstra Syndrome	Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Pulm...	ORPHA:261494
Paroxysmal Nocturnal Hemoglobinuria	Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen...	ORPHA:447
Bohring-Opitz Syndrome	Intrauterine growth retardation, Polyhydramnios, Ventricular septal defect, Atrial septal defect,...	OMIM:605039
Congenital Disorder Of Glycosylation, Type It	Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, Cardiomegaly, Coarctation of a...	OMIM:614921
Ethylene Glycol Poisoning	Pulmonary edema, Cerebral edema, Facial palsy, Cyanosis	ORPHA:31826
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Donnai-Barrow Syndrome	Diaphragmatic eventration, Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:222448
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Hand-Foot-Genital Syndrome	Miscarriage, Ventricular septal defect	ORPHA:2438
Chromosome 9P Deletion Syndrome	Patent ductus arteriosus, Atrial septal defect, Perimembranous ventricular septal defect, Ventric...	OMIM:158170
Tetraamelia Syndrome 2	Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent...	OMIM:192430
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Patent ductus arteriosus, Morgagni diaphragmatic hernia, Ventric...	OMIM:613309
Mosaic Trisomy 16	Abnormal heart morphology, Intrauterine growth retardation, Ventricular septal defect, Single cor...	ORPHA:1708
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Patent ductus arteriosus, E...	OMIM:313850
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:612530
Postinfectious Vasculitis	Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cerebral vasculitis, Cutis marmorata, I...	ORPHA:48435
Cutis Laxa, Autosomal Dominant 1	Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Ventricula...	OMIM:123700
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema, Intrauterine growth retardation, Flexion contracture, Ventricular septal defect	OMIM:614653
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic pulmonary valve, Ventricular septal defect	OMIM:619103
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Cutis marmorata, Ventricular ...	OMIM:100300
X Small Rings	Aortic root aneurysm, Oligohydramnios, Mitral stenosis, Ventricular septal defect, Bicuspid aorti...	ORPHA:96201
Congenital Disorder Of Glycosylation, Type Iiaa	Knee flexion contracture, Patent ductus arteriosus after premature birth, Ventricular septal defect	OMIM:620454
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Cutis marmorata, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent d...	OMIM:610759
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat...	ORPHA:2473
Joubert Syndrome 14	Intracranial hemorrhage, Ventricular septal defect	OMIM:614424
Paternal Uniparental Disomy Of Chromosome 6	Intrauterine growth retardation, Oligohydramnios, Ventricular septal defect, Cardiomegaly, Macrog...	ORPHA:96191
Neu-Laxova Syndrome 1	Yellow subcutaneous tissue covered by thin, scaly skin, Generalized edema, Joint contracture of t...	OMIM:256520
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Patent f...	OMIM:617506
Syndromic Diarrhea	Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of Fallot, Intrauterin...	ORPHA:84064
Coffin-Siris Syndrome 4	Macroglossia, Mitral atresia, Intrauterine growth retardation, Ventricular septal defect, Atrial ...	OMIM:614609
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Pancreatic lymphangiectasis, Ascites, Ventricular septal defect, Pulmonary lymphangiectasia, Poly...	ORPHA:1655
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa...	OMIM:618748
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Aortic root aneurysm, Increased nuchal translucency, Ventricular septal ...	OMIM:620654
Distal Duplication 5Q	Dextrocardia, Ventricular septal defect	ORPHA:96097
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616449
Peroxisome Biogenesis Disorder 1A (Zellweger)	Death in childhood, Ventricular septal defect, Prolonged neonatal jaundice, Macroglossia, Patent ...	OMIM:214100
Classical Ehlers-Danlos Syndrome	Arterial dissection, Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Dilatatio...	ORPHA:287
Focal Dermal Hypoplasia	Erythema, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia, Ventricular ...	ORPHA:2092
Choanal Atresia	Cyanosis	ORPHA:137914
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrauterine growth retardation, Death in infancy, Ventricular septal defect, Death in adolescenc...	OMIM:614866
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:2461
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Ventricula...	OMIM:620025
Cardiogenic Shock	Cyanosis, Hypoxemia, Edema	ORPHA:97292
Rabson-Mendenhall Syndrome	Cardiomyopathy, Premature graying of hair, Intrauterine growth retardation, Reduced subcutaneous ...	ORPHA:769
Down Syndrome	Secundum atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular se...	ORPHA:870
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Ventricular septal defect, Vascular dilatation, Atrial septal defect, Smal...	OMIM:607323
Chops Syndrome	Patent foramen ovale, Patent ductus arteriosus, Anomalous pulmonary venous return, Ventricular se...	OMIM:616368
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect	ORPHA:251038
Distal Deletion 19P	Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect	ORPHA:96129
Trichohepatoenteric Syndrome 1	Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Polyhydramnios, ...	OMIM:222470
Distal 22Q11.2 Microdeletion Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal ...	ORPHA:261330
16P13.11 Microdeletion Syndrome	Atrial septal defect, Camptodactyly of finger, Ventricular septal defect	ORPHA:261236
Mycophenolate Mofetil Embryopathy	Coarctation of aorta, Hydrops fetalis, Congenital diaphragmatic hernia, Ventricular septal defect	ORPHA:268249
Opitz Gbbb Syndrome	Aortic root aneurysm, Abnormal heart morphology, Congenital diaphragmatic hernia, Patent foramen ...	ORPHA:2745
Ellis Van Creveld Syndrome	Atrioventricular canal defect, Abnormal heart valve morphology, Intrauterine growth retardation, ...	ORPHA:289
Primary Hyperoxaluria	Cutis marmorata, Acrocyanosis, Cardiomyopathy	ORPHA:416
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Flexion contracture, Bruising susceptibility, Ventricular septal...	OMIM:227645
Mgat2-Cdg	Abnormal heart morphology, Hydrops fetalis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79329
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Atrial septal defect, Severe intrauterine growth retardation, Ventricular septal defect	OMIM:620663
Ogden Syndrome	Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Lymphedema, Facial wrinkling...	OMIM:300855
Robinow Syndrome, Autosomal Dominant 3	Patent foramen ovale, Ventricular septal defect, Camptodactyly, Pulmonary artery atresia, Hypopla...	OMIM:616894
C Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Shoulder flexion contracture, Tetralogy of Fallot, Muscular ventricular septal defect, Intrauteri...	OMIM:210710
Brachytelephalangic Chondrodysplasia Punctata	Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	ORPHA:79345
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Ankle flexion contracture, Intrauterine growth retardation, Oligohydramnio...	ORPHA:464311
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Oligohydramnios, Diastasis recti, Ventricular septal defect, Macroglossi...	ORPHA:488632
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect	OMIM:277600
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Polyhydramnios, Ventricular septal defect	OMIM:615503
Craniofacioskeletal Syndrome	Interrupted aortic arch, Intrauterine growth retardation, Ventricular septal defect, Atrial septa...	OMIM:300712
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Cyanosis	OMIM:610913
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Chime Syndrome	Erythema, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresia, Transposition ...	ORPHA:3474
Chromosome 14Q11-Q22 Deletion Syndrome	Macroglossia, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect	OMIM:613457
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Knee flexion contracture, Weakness of facial musculature	OMIM:617239
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect...	ORPHA:508498
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Mitral valve prolapse, Ventricular septal defect, Limb hypertonia, Ascend...	ORPHA:444072
Trisomy 18	Camptodactyly of finger, Intrauterine growth retardation, Oligohydramnios, Congenital diaphragmat...	ORPHA:3380
Brain-Lung-Thyroid Syndrome	Patent foramen ovale, Atrial septal defect, Abnormal cardiac septum morphology, Ventricular septa...	ORPHA:209905
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ventricular septal defect, Overridi...	OMIM:309801
Doors Syndrome	Polyhydramnios, Double outlet right ventricle	ORPHA:79500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect	OMIM:619306
Trichothiodystrophy	Cardiomyopathy, Intrauterine growth retardation, Multiple joint contractures, Ventricular septal ...	ORPHA:33364
3Mc Syndrome 1	Diastasis recti, Ventricular septal defect, Conjunctival telangiectasia, Atrial septal defect, Pa...	OMIM:257920
Myasthenia Gravis	Myositis, Acrocyanosis	ORPHA:589
Pallister-Hall Syndrome	Intrauterine growth retardation, Neonatal death, Ventricular septal defect, Preductal coarctation...	OMIM:146510
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal aorti...	ORPHA:1507
Coffin-Siris Syndrome	Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retardation, Ventricular sept...	ORPHA:1465
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Death in infancy, Ventricular septal defect, ...	OMIM:274000
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Patent foramen ovale, Ventricular septal defect, Coarctation of ...	OMIM:618454
Cerebrocostomandibular Syndrome	Intrauterine growth retardation, Death in infancy, Ventricular septal defect	ORPHA:1393
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Cutis marmorata, Congenital diaphragmatic hernia, Ventricular septal defec...	ORPHA:96121
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Fanconi Anemia, Complementation Group N	Atrial septal defect, Ventricular septal defect	OMIM:610832
Cerebellofaciodental Syndrome	Mitral valve prolapse, Ventricular septal defect	OMIM:616202
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Elbow flexion contracture, Ventricular septal defect, Ascending aortic dis...	OMIM:608328
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Oligohydramnios, Polyhydramnios, Ventricular septal defect, Atrial...	OMIM:300373
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Death in childhood, Death in infancy	OMIM:618426
Renal Agenesis	Oligohydramnios, Ventricular septal defect	ORPHA:411709
Van Esch-O'Driscoll Syndrome	Intrauterine growth retardation, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary ...	OMIM:301030
Codas Syndrome	Atrioventricular canal defect, Polyhydramnios, Atrial septal defect, Ventricular septal defect	OMIM:600373
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Ventricular septal defect	OMIM:614947
Fryns Syndrome	Joint contracture of the hand, Chylothorax, Polyhydramnios, Ventricular septal defect, Atrial sep...	OMIM:229850
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Teebi-Shaltout Syndrome	Aortic valve stenosis, Camptodactyly, Ventricular septal defect	OMIM:272950
Ulnar-Mammary Syndrome	Aplasia of the pectoralis major muscle, Camptodactyly of finger, Ventricular septal defect	ORPHA:3138
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Intrauterine growth retardation, Oligohydramnios, Multiple joint contractu...	ORPHA:464306
Hyperoxaluria, Primary, Type I	Peripheral arterial stenosis, Cutis marmorata, Acrocyanosis, Dehydration	OMIM:259900
Diets-Jongmans Syndrome	Polyhydramnios, Congenital diaphragmatic hernia, Interrupted inferior vena cava with azygous cont...	OMIM:618846
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormal heart morphology, Increased nuchal translucency, Ventricular septal defect, Bicuspid aor...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormal heart morphology, Increased nuchal translucency, Ventricular septal defect, Bicuspid aor...	ORPHA:352665
Goldberg-Shprintzen Syndrome	Limb hypertonia, Ventricular septal defect	OMIM:609460
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Jacobsen Syndrome	Intrauterine growth retardation, Flexion contracture, Atrial septal defect, Ventricular septal de...	OMIM:147791
Pmm2-Cdg	Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint contractures, Abnormal subcutan...	ORPHA:79318
Thauvin-Robinet-Faivre Syndrome	Mitral valve prolapse, Ventricular septal defect, Varicose veins, Macroglossia, Pedal edema	OMIM:617107
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Ventricular septal defect, Neonatal death, Dextrocardia...	OMIM:619534
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Right ventricular ...	OMIM:300967
Alagille Syndrome 1	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Ventricular sep...	OMIM:118450
Mosaic Trisomy 20	Dysplastic tricuspid valve, Intrauterine growth retardation, Abnormal mitral valve morphology, Ve...	ORPHA:1724
Catel-Manzke Syndrome	Intrauterine growth retardation, Ventricular septal defect, Overriding aorta, Coarctation of aort...	OMIM:616145
22Q11.2 Deletion Syndrome	Abnormal aortic arch morphology, Tetralogy of Fallot, Retinal arteriolar tortuosity, Intrauterine...	ORPHA:567
Smith-Lemli-Opitz Syndrome	Atrioventricular canal defect, Intrauterine growth retardation, Increased nuchal translucency, Cu...	ORPHA:818
Acrofacial Dysostosis 1, Nager Type	Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Patent ductus ar...	OMIM:154400
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Pul...	OMIM:607721
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Prolonged neonatal jaundice, Weakness of facial musculature, Ventricular septal defect	OMIM:619418
Cornelia De Lange Syndrome 6	Atrioventricular canal defect, Pulmonary artery atresia, Intrauterine growth retardation, Ventric...	OMIM:620568
Jacobsen Syndrome	Aortic valve stenosis, Hypoplastic left heart, Intrauterine growth retardation, Death in infancy,...	ORPHA:2308
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Intracranial hemorrhage...	ORPHA:163979
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Complete atrioventricular canal defect, Ventricular septal defec...	OMIM:236680
Hypermobile Ehlers-Danlos Syndrome	Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Mitral valve prolapse, Venous...	ORPHA:285
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven...	OMIM:612474
Renpenning Syndrome 1	Joint contracture of the hand, Tetralogy of Fallot, Situs inversus totalis, Death in childhood, V...	OMIM:309500
Koolen-De Vries Syndrome Due To A Point Mutation	Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp...	ORPHA:363958
Larsen Syndrome	Intrauterine growth retardation, Aortic aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:150250
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Abnormal heart morphology, Radial artery aplasia, Ventricular...	ORPHA:124
Feingold Syndrome 1	Interrupted aortic arch, Ventricular septal defect, Polyhydramnios, Tricuspid stenosis, Patent du...	OMIM:164280
Distal 22Q11.2 Microduplication Syndrome	Camptodactyly of finger, Palpebral edema, Ventricular septal defect, Camptodactyly of toe, Tricus...	ORPHA:261337
Chromosome 16P13.3 Duplication Syndrome	Tetralogy of Fallot, Facial hypotonia, Ventricular septal defect, Atrial septal defect, Small the...	OMIM:613458
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Camptodactyly of finger, Atrioventricular canal defect, Ventricular septal defect, Atrial septal ...	ORPHA:3047
Robinow Syndrome	Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta, Pulmonary valve atres...	ORPHA:97360
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Mitral valve prolapse, Ventricular septal defect, Varicose v...	ORPHA:500095
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Intrauterine growth retardation, Contracture of the proximal interphalangeal joint of the 3rd fin...	OMIM:301044
Alzahrani-Kuwahara Syndrome	Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli...	OMIM:619268
Simpson-Golabi-Behmel Syndrome	Cardiomyopathy, Camptodactyly of finger, Congenital diaphragmatic hernia, Death in infancy, Ventr...	ORPHA:373
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:619575
Hardikar Syndrome	Patent foramen ovale, Ventricular septal defect, Prolonged neonatal jaundice, Pulmonary artery st...	OMIM:301068
Combined Immunodeficiency-Enteropathy Spectrum	Polyhydramnios, Intrauterine growth retardation, Ventricular septal defect	ORPHA:436252
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Fragile skin, Atrial septal defect, Flexion con...	OMIM:271640
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal hypertrophy, Intrauterine growth retardation, Oligohydramnios, Ventricular sep...	OMIM:608670
Diamond-Blackfan Anemia 1	Intrauterine growth retardation, Ventricular septal defect, Coarctation of aorta, Atrial septal d...	OMIM:105650
Restrictive Dermopathy	Camptodactyly of finger, Intrauterine growth retardation, Multiple joint contractures, Transposit...	ORPHA:1662
Williams Syndrome	Death in early adulthood, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid ao...	ORPHA:904
Limb Body Wall Complex	Abnormal heart morphology, Diastasis recti, Congenital diaphragmatic hernia, Ventricular septal d...	ORPHA:2369
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hydrops fetalis, Atrial septal defect, Ventricular septal defect	OMIM:263520
Familial Dysautonomia	Acrocyanosis	ORPHA:1764
8Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Oligoh...	ORPHA:508488
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Congenital diaphragmatic hernia, Patent foramen ovale, Dyspla...	OMIM:157800
Meier-Gorlin Syndrome 7	Complete atrioventricular canal defect, Atrial septal defect, Ventricular septal defect	OMIM:617063
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Ventricular septal defect, Pul...	OMIM:245150
Degcags Syndrome	Premature graying of hair, Intrauterine growth retardation, Patent foramen ovale, Ventricular sep...	OMIM:619488
Specc1L-Related Hypertelorism Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	ORPHA:1519
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:620558
Noonan Syndrome 1	Chylothorax, Bruising susceptibility, Lymphedema, Hypertrophic cardiomyopathy, Ventricular septal...	OMIM:163950
Costello Syndrome	Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Atrial septal defe...	OMIM:218040
Vater/Vacterl Association	Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Transposition of...	OMIM:192350
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal left ventricle morphology, Right ventricular hypertrophy, Patent foramen ovale, Ventricu...	ORPHA:466791
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Abnormal aortic arch morphology, Interphalangeal joint contracture of finger, Hypertrophic cardio...	ORPHA:96334
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Aortic root aneurysm, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect,...	ORPHA:444077
Cerebrocostomandibular Syndrome	Elbow flexion contracture, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Paten...	OMIM:117650
Pitt-Hopkins Syndrome	Acrocyanosis	ORPHA:2896
Zttk Syndrome	Intrauterine growth retardation, Ventricular septal defect, Atrial septal defect, Flexion contrac...	OMIM:617140
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Dilatation of the ventricular cavity, Polyhydramnios, Ventricular septal defect, Pulmonary artery...	ORPHA:459070
Acrofacial Dysostosis, Cincinnati Type	Pulmonary artery aneurysm, Biventricular hypertrophy, Intrauterine growth retardation, Partial at...	OMIM:616462
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Ventricular septal defect, Bicus...	ORPHA:353281
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Camptodactyly of finger, Mitral stenosis, Ventric...	OMIM:143095
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Oligohydram...	ORPHA:2729
Liver Disease, Severe Congenital	Ascites, Dilatation of the ventricular cavity, Intrauterine growth retardation, Patent foramen ov...	OMIM:619991
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Intrauterine growth retardation,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Vascular ring, Abnormal heart morphology, Intrauterine growth retardation,...	ORPHA:353277
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis	ORPHA:293987
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Increased nuchal translucency, Ventri...	ORPHA:3472
Carpenter Syndrome 2	Situs inversus totalis, Knee flexion contracture, Transposition of the great arteries, Atrial sep...	OMIM:614976
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Prolonged neonatal jaundice, Ventricular septal defect	OMIM:619525
Chromosome 1P36 Deletion Syndrome, Distal	Dilated cardiomyopathy, Aortic root aneurysm, Camptodactyly of finger, Tetralogy of Fallot, Paten...	OMIM:607872
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anomalous origin of left subclavian artery, Abnormal heart morphology, Patent foramen ovale, Vent...	ORPHA:438213
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cerebral hemorrhage, Patent ductus arteriosus, Ventricular septal defect	OMIM:616682
Omodysplasia 1	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect	OMIM:258315
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal...	ORPHA:363700
Coffin-Siris Syndrome 1	Tetralogy of Fallot, Intrauterine growth retardation, Cutis marmorata, Congenital diaphragmatic h...	OMIM:135900
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Cardiomyopathy, Diastasis recti, Right ventricular hyper...	OMIM:312870
Femoral-Facial Syndrome	Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Pat...	OMIM:134780
Williams-Beuren Syndrome	Peripheral pulmonary artery stenosis, Coronary artery stenosis, Myxomatous mitral valve degenerat...	OMIM:194050
Chromosome 13Q14 Deletion Syndrome	Patent foramen ovale, Ventricular septal defect	OMIM:613884
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Right aortic arch, Ventricular septal defect	ORPHA:513456
Mowat-Wilson Syndrome	Abnormal heart morphology, Ventricular septal defect, Pulmonary artery sling, Pulmonary artery st...	OMIM:235730
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Ventricular septa...	OMIM:268300
Johanson-Blizzard Syndrome	Generalized edema, Dilated cardiomyopathy, Anasarca, Ascites, Intrauterine growth retardation, Si...	OMIM:243800
Digeorge Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Trun...	OMIM:188400
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Pallister-Hall Syndrome	Atrioventricular canal defect, Intrauterine growth retardation, Oligohydramnios, Ventricular sept...	ORPHA:672
Sotos Syndrome	Ankle flexion contracture, Abnormal heart morphology, Flushing, Hip contracture, Ventricular sept...	ORPHA:821
Penile Agenesis	Oligohydramnios, Atrial septal defect, Ventricular septal defect	ORPHA:49
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Orofaciodigital Syndrome Xiv	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:615948
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Coffin-Lowry Syndrome	Cutis marmorata, Acrocyanosis	OMIM:303600
Genitopatellar Syndrome	Knee flexion contracture, Hip contracture, Ventricular septal defect, Atrial septal defect, Polyh...	OMIM:606170
Ulnar-Mammary Syndrome	Elbow flexion contracture, Ventricular septal defect	OMIM:181450
Pallister-Killian Syndrome	Aortic valve stenosis, Camptodactyly of 2nd-5th fingers, Hypertrophic cardiomyopathy, Polyhydramn...	OMIM:601803
Townes-Brocks Syndrome 1	Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect	OMIM:107480
Craniofacial Microsomia 1	Hypoplasia of facial musculature, Tetralogy of Fallot, Right aortic arch, Ventricular septal defe...	OMIM:164210

Histopathology

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

There is no histopathology data for 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.

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

Title	Journal	IMPC Allele	PubMed ID
Intestinal Paneth cell differentiation relies on asymmetric regulation of Wnt signaling by Daam1/2.	Science advances (November 2023)	Daam1^{tm1a(EUCOMM)Hmgu}	38000028

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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

Adult LacZ

X-ray

X-ray

MicroCT E14.5-E15.5

Embryo LacZ

X-ray

X-ray

Immunophenotyping

Auditory Brain Stem Response

Immunophenotyping

Human diseases caused by Daam1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data