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Gene: Fgf15 MGI:1096383

Gene Summary

Name:

fibroblast growth factor 15

Synonyms:

FGF19

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
abnormal embryo size	Fgf15^{tm1.1(KOMP)Vlcg}	HOM	E15.5
hydrocephaly	Fgf15^{tm1.1(KOMP)Vlcg}	HET	Early adult
abnormal brain morphology	Fgf15^{tm1.1(KOMP)Vlcg}	HET	Early adult
abnormal heart morphology	Fgf15^{tm1.1(KOMP)Vlcg}	HOM	E15.5
preweaning lethality, complete penetrance	Fgf15^{tm1.1(KOMP)Vlcg}	HOM	Early adult
edema	Fgf15^{tm1.1(KOMP)Vlcg}	HOM	E15.5
abnormal placenta size	Fgf15^{tm1.1(KOMP)Vlcg}	HOM	E12.5
abnormal embryo size	Fgf15^{tm1.1(KOMP)Vlcg}	HOM	E12.5

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	Section images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
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	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
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)
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	50% (1 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	50% (1 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Central nervous system ganglion	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Gut	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Nose	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Skeleton	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Urinary system	N/A	heterozygote	0.0% (0 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%
brain	0.0%
brainstem	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	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%
ovary	0.0%
oviduct	0.0%
pancreas	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)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
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%
nose	Ambiguous
oral cavity	0.0%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

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 Section

4 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images

Human diseases caused by Fgf15 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 Fgf15 (0 diseases)
Human diseases predicted to be associated with Fgf15 (1410 diseases)

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

The table below shows human diseases predicted to be associated to Fgf15 by phenotypic similarity.

Disease	Matching phenotypes	Source
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death	OMIM:620203
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Aneurysm Of Interventricular Septum	Vascular dilatation, Abnormal ventricular septum morphology	OMIM:105805
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Lipedema	Edema	OMIM:614103
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi...	ORPHA:1354
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Patent ductus arteriosus, Overriding aorta, Ventricular septal defect	OMIM:617021
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:860
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect	OMIM:620062
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi...	OMIM:132900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis...	ORPHA:229
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Birk-Aharoni Syndrome	Muscular ventricular septal defect	OMIM:620071
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ...	OMIM:115197
Congenital Disorder Of Glycosylation, Type Ih	Neonatal death, Patent ductus arteriosus, Perimembranous ventricular septal defect	OMIM:608104
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ...	OMIM:620070
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ...	ORPHA:3426
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb...	ORPHA:363444
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
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
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte...	OMIM:600001
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Abnormal aor...	ORPHA:1166
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect	OMIM:618804
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect	OMIM:618354
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Congenital Myopathy 11	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619967
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Snijders Blok-Campeau Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:618205
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect...	OMIM:618316
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect	ORPHA:2516
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu...	OMIM:612946
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
Mungan Syndrome	Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:611376
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial...	OMIM:608978
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia...	OMIM:270100
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta	ORPHA:1923
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot	OMIM:615542
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Transaldolase Deficiency	Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta	ORPHA:101028
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:618652
Chromosome 9P Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric...	OMIM:158170
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Tetralogy Of Fallot	Tetralogy of Fallot	ORPHA:3303
Sotos Syndrome	Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s...	OMIM:117550
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste...	OMIM:617478
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At...	ORPHA:371428
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Stroke, Ventricular septal defect	ORPHA:49827
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta	OMIM:615502
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy	OMIM:309801
Aortic Aneurysm, Familial Thoracic 9	Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse	OMIM:616166
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot	ORPHA:1919
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect	OMIM:263630
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect	OMIM:113301
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:613870
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Atrial septal defect	ORPHA:52056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect	OMIM:249270
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus	OMIM:614886
Isolated Dandy-Walker Malformation	Tetralogy of Fallot	ORPHA:217
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot	OMIM:300887
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect	OMIM:618624
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect, Coarctation of aorta	OMIM:620210
Feingold Syndrome Type 1	Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor...	ORPHA:391641
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Abnormal aortic morphology	ORPHA:3222
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Diabetic Embryopathy	Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the ...	ORPHA:1926
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Anomalous pulmonary venous return, Coarctation o...	ORPHA:1120
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ...	ORPHA:3097
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Dilated Cardiomyopathy With Ataxia	Muscular ventricular septal defect, Dilated cardiomyopathy	ORPHA:66634
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Congenital Rubella Syndrome	Atrial septal defect, Patent ductus arteriosus, Abnormality of the pulmonary artery, Ventricular ...	ORPHA:290
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect	OMIM:619227
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect	OMIM:613730
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect	OMIM:616589
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Microphthalmia, Syndromic 9	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Coarctation of aort...	OMIM:601186
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he...	ORPHA:488618
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,...	ORPHA:2847
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart	OMIM:618142
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Patent ductus arteriosus	OMIM:241310
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart	ORPHA:2001
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Formiminoglutamic Aciduria	Atrial septal defect	ORPHA:51208
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal...	ORPHA:2041
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ...	OMIM:619149
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp...	OMIM:615355
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo...	OMIM:601005
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perim...	ORPHA:508498
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Muscular ventricular septal defect	OMIM:618569
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right...	ORPHA:2326
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Alg12-Cdg	Biventricular hypertrophy, Muscular ventricular septal defect, Patent ductus arteriosus, Patent f...	ORPHA:79324
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta	OMIM:616145
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Tetrasomy 15Q26	Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch	OMIM:614846
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619769
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:301039
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Pulmonary artery atresia, Double outlet right ventricle, Ventricular septal defect, Pulmonic sten...	OMIM:301056
Phaver Syndrome	Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta	ORPHA:2876
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Mass Syndrome	Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse	OMIM:604308
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:608779
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Alagille Syndrome 2	Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis	OMIM:610205
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ...	ORPHA:2306
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Patent foramen ovale	OMIM:617182
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect	OMIM:619142
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:75389
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Pulmonic stenosis	OMIM:615508
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve...	ORPHA:1880
Transaldolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:606003
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve	OMIM:617744
Atrial Septal Defect 9	Secundum atrial septal defect, Bicuspid aortic valve	OMIM:614475
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Aortic dissection	OMIM:135580
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent ductus arteriosus, Patent foramen ovale	OMIM:616867
Klippel-Trénaunay Syndrome	Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus...	ORPHA:90308
Halperin-Birk Syndrome	Perimembranous ventricular septal defect	OMIM:618651
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a...	OMIM:264480
Renal Tubular Dysgenesis	Tetralogy of Fallot	ORPHA:3033
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super...	OMIM:618494
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:615668
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl...	OMIM:157800
Prune Belly Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2970
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi...	ORPHA:91387
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Cardiomyopathy, Familial Restrictive, 3	Restrictive cardiomyopathy, Aortic aneurysm, Myocardial sarcomeric disarray, Right atrial enlarge...	OMIM:612422
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Wolcott-Rallison Syndrome	Atrial septal defect, Double outlet right ventricle	ORPHA:1667
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Abnormal vena...	ORPHA:163956
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:617159
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Fetal Encasement Syndrome	Tetralogy of Fallot	OMIM:613630
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
1Q21.1 Microduplication Syndrome	Hydrocephalus	ORPHA:250994
Megalencephaly	Atrial septal defect	ORPHA:2477
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia...	ORPHA:251071
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta	OMIM:614857
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Developmental And Epileptic Encephalopathy 90	Atrial septal defect	OMIM:301058
Woods Syndrome	Ventricular septal defect	OMIM:615236
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Fried Syndrome	Hydrocephalus	ORPHA:85335
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph...	ORPHA:980
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal defect, Truncus a...	ORPHA:2008
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Situs inversus totalis	OMIM:619881
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta	OMIM:301022
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Hamel Cerebro-Palato-Cardiac Syndrome	Atrial septal defect	ORPHA:93946
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Temple-Baraitser Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:611816
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2519
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot	ORPHA:1381
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect	ORPHA:452
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis	OMIM:618223
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Fumarase Deficiency	Perimembranous ventricular septal defect	OMIM:606812
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Transposition of the great arteries, Neonatal death, Atrioventricular canal defect,...	OMIM:314390
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Stillbirth, ...	OMIM:210710
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:500159
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Pulmonic stenosis	OMIM:619239
Aortic Aneurysm, Familial Thoracic 12	Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection, Bicuspid aor...	OMIM:619825
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Schuurs-Hoeijmakers Syndrome	Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort...	OMIM:615009
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coarctation of aorta,...	OMIM:180849
Bone Dysplasia, Lethal Holmgren Type	Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus	ORPHA:1842
Charge Syndrome	Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arterio...	OMIM:214800
20P12.3 Microdeletion Syndrome	Atrial septal defect	ORPHA:261295
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:614300
Frontoocular Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:605321
Seizures-Scoliosis-Macrocephaly Syndrome	Atrial septal defect	ORPHA:466926
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar...	OMIM:616564
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d...	OMIM:300963
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri...	OMIM:605275
Autism Spectrum Disorder Due To Auts2 Deficiency	Atrial septal defect, Abnormal heart morphology	ORPHA:352490
Dohle Bodies And Leukemia	Secundum atrial septal defect	OMIM:223350
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:618870
Igg4-Related Aortitis	Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila...	ORPHA:449400
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Vascular dilatation	OMIM:219730
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Al-Raqad Syndrome	Atrial septal defect	OMIM:616459
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis...	OMIM:300845
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:145420
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri...	OMIM:618280
Giant Cell Arteritis	Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent...	ORPHA:397
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr...	OMIM:620024
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Seckel Syndrome 9	Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect	OMIM:616777
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Abruzzo-Erickson Syndrome	Atrial septal defect	ORPHA:921
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Stevenson-Carey Syndrome	Atrial septal defect, Left superior vena cava draining to coronary sinus	OMIM:611961
Congenital Heart Block	Pericardial effusion, Patent ductus arteriosus, Patent foramen ovale, Endocardial fibroelastosis	ORPHA:60041
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse...	OMIM:121050
Beta-Mercaptolactate Cysteine Disulfiduria	Atrial septal defect	ORPHA:1035
Coffin-Siris Syndrome 5	Atrial septal defect	OMIM:616938
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,...	ORPHA:7
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Diamond-Blackfan Anemia 7	Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ...	OMIM:612562
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620327
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Thanatophoric Dysplasia Type 2	Atrial septal defect, Patent ductus arteriosus	ORPHA:93274
17Q12 Microduplication Syndrome	Atrial septal defect	ORPHA:261272
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Patent foramen ovale	ORPHA:89844
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Even-Plus Syndrome	Atrial septal defect, Patent foramen ovale	OMIM:616854
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor...	ORPHA:435638
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm...	OMIM:115470
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric...	OMIM:265380
Williams Syndrome	Abnormal endocardium morphology, Aortic arch aneurysm, Overriding aorta, Bicuspid aortic valve, V...	ORPHA:904
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:608572
Thanatophoric Dysplasia	Atrial septal defect, Patent ductus arteriosus	ORPHA:2655
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Pentalogy Of Cantrell	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal pericardium morpho...	ORPHA:1335
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P...	OMIM:612582
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ...	ORPHA:2255
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula...	OMIM:613001
White Forelock With Malformations	Atrial septal defect	ORPHA:2475
Kagami-Ogata Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:608149
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri...	ORPHA:1596
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Tetraamelia Syndrome 2	Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Patent foramen ovale	OMIM:615156
Congenital Tricuspid Valve Dysplasia	Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a...	ORPHA:555874
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula...	OMIM:618775
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot...	OMIM:192430
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
3-Methylglutaconic Aciduria, Type V	Atrial septal defect, Noncompaction cardiomyopathy, Dilated cardiomyopathy	OMIM:610198
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Mosaic Trisomy 16	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Abnormal heart morphol...	ORPHA:1708
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Patent ductus arteriosus, Aortic root aneurysm	ORPHA:404443
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect	OMIM:619356
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect	ORPHA:96190
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria...	OMIM:609029
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect	ORPHA:521308
20Q13.33 Microdeletion Syndrome	Atrial septal defect, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of...	ORPHA:261311
Recombinant 8 Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def...	ORPHA:96167
Potocki-Lupski Syndrome	Atrial septal defect, Patent foramen ovale	OMIM:610883
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia	ORPHA:1908
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta	OMIM:300514
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Patent ductus arteriosus	OMIM:602482
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect	ORPHA:2256
Kapur-Toriello Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:244300
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
Serkal Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Heart And Brain Malformation Syndrome	Ventricular septal defect, Interrupted aortic arch	OMIM:616920
Joubert Syndrome 18	Ventricular septal defect	OMIM:614815
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Muscular ventricular septa...	OMIM:619503
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta	OMIM:617602
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Patent foramen ovale	ORPHA:88630
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Congenital Disorder Of Glycosylation, Type Iil	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614576
Trisomy 13	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:3378
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Isolated Klippel-Feil Syndrome	Ventricular septal defect	ORPHA:2345
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect	OMIM:309520
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect	ORPHA:500533
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Zechi-Ceide Syndrome	Atrial septal defect, Abnormal heart morphology	ORPHA:217017
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect	OMIM:611087
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Meckel Syndrome, Type 7	Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis, Ri...	OMIM:267010
Rhizomelic Limb Shortening With Dysmorphic Features	Patent foramen ovale	OMIM:618821
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great arteries, Subval...	OMIM:280000
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri...	OMIM:612098
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Lymphatic Malformation 13	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Neonatal death	OMIM:620244
Chondrodysplasia, Blomstrand Type	Stillbirth, Preductal coarctation of the aorta	OMIM:215045
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Patent foramen ovale	OMIM:616866
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect	OMIM:611926
Lujan-Fryns Syndrome	Atrial septal defect	ORPHA:776
Coffin-Siris Syndrome 6	Atrial septal defect	OMIM:617808
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Cardioacrofacial Dysplasia 2	Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus	OMIM:619143
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:614114
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art...	OMIM:609192
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni...	OMIM:201000
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro...	OMIM:619167
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di...	OMIM:612863
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl...	OMIM:300166
Waardenburg Syndrome Type 3	Atrial septal defect	ORPHA:896
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Distal Triplication 15Q	Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology	ORPHA:314588
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Ventricular septal defect	OMIM:617452
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect	OMIM:619115
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus	ORPHA:2183
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular aorta aneury...	OMIM:614816
Buratti-Harel Syndrome	Atrial septal defect, Dilation of Virchow-Robin spaces	OMIM:619314
Donnai-Barrow Syndrome	Ventricular septal defect	ORPHA:2143
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype...	OMIM:615474
Complete Atrioventricular Septal Defect	Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o...	ORPHA:1329
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:208085
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	ORPHA:1780
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve	OMIM:619721
Inflammatory Skin And Bowel Disease, Neonatal, 2	Coarctation of aorta	OMIM:616069
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620113
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a...	ORPHA:2331
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Patent foramen ovale	OMIM:614582
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr...	OMIM:609942
Wrinkly Skin Syndrome	Muscular ventricular septal defect, Atrial septal dilatation	OMIM:278250
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria...	ORPHA:96170
Shashi-Pena Syndrome	Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces	OMIM:617190
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:609053
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu...	OMIM:601808
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur...	OMIM:610168
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Ventriculomegaly	OMIM:618577
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Patent ductus arteriosus, Cerebral hemorrhage	OMIM:617397
Roifman Syndrome	Noncompaction cardiomyopathy, Ventricular septal defect	OMIM:616651
Tarp Syndrome	Atrial septal defect, Tetralogy of Fallot, Subdural hemorrhage, Neonatal death	OMIM:311900
Joubert Syndrome 3	Atrial septal defect	OMIM:608629
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Coarctation of aorta	OMIM:618929
Kleefstra Syndrome Due To 9Q34 Microdeletion	Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morphology, Aortic valve stenos...	ORPHA:96147
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Craniofacioskeletal Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch	OMIM:300712
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect	OMIM:614526
Primary Pulmonary Hypoplasia	Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia	ORPHA:2257
Alg3-Cdg	Cardiomyopathy, Coarctation of the descending aortic arch	ORPHA:79321
Periventricular Nodular Heterotopia 7	Ventricular septal defect	OMIM:617201
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Atria...	ORPHA:2637
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:505237
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Lymphedema-Distichiasis Syndrome	Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Noonan Syndrome 5	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:611553
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Atrial septal defect, Patent foramen ovale	OMIM:620075
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
King-Denborough Syndrome	Ventricular septal defect	OMIM:619542
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Patent ductus arteriosus	ORPHA:1790
16P12.1P12.3 Triplication Syndrome	Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal heart morphology	ORPHA:485405
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Peripheral pulmonary artery stenosis	OMIM:614749
Ogden Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:276432
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Ventricular septal defect	OMIM:611812
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atrial septal defect, Pulmonic stenosis	OMIM:618282
Noonan Syndrome 4	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:610733
Alagille Syndrome	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis	ORPHA:52
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis	OMIM:226100
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort...	OMIM:617506
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect	OMIM:619608
Alazami Syndrome	Atrial septal defect	ORPHA:319671
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Atrial septal defect	OMIM:618109
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a...	OMIM:620025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Patent foramen ovale, Mitral valve prolapse	OMIM:615539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos...	OMIM:253800
Myofibrillar Myopathy 11	Coarctation of aorta	OMIM:619178
Thanatophoric Dysplasia Type 1	Atrial septal defect, Patent ductus arteriosus	ORPHA:1860
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Fryns Syndrome	Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Tetralogy of Fallot, Abnorma...	ORPHA:2059
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Cardiac-Valvular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec...	ORPHA:230851
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Phace Syndrome	Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root...	ORPHA:42775
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:369891
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis	OMIM:617660
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Cooper-Jabs Syndrome	Ventricular septal defect	ORPHA:1488
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:457279
Kabuki Syndrome 2	Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:300867
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage	ORPHA:369929
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Intellectual Developmental Disorder, Autosomal Recessive 72	Secundum atrial septal defect	OMIM:618665
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea...	OMIM:100300
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Distal Xq28 Microduplication Syndrome	Patent ductus arteriosus, Patent foramen ovale	ORPHA:293939
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Perimembranous ventricular septal defect	ORPHA:83617
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se...	OMIM:300998
Malignant Migrating Focal Seizures Of Infancy	Aortopulmonary collateral arteries	ORPHA:293181
Septopreoptic Holoprosencephaly	Coarctation of aorta	ORPHA:280195
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Patent ductus arteriosus	OMIM:618005
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneury...	OMIM:208050
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Neonatal death, Complete atrioventricular canal defect, Tetralogy of Fallot	OMIM:617925
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos...	OMIM:602782
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Contractures-Developmental Delay-Pierre Robin Syndrome	Atrial septal defect, Peripheral pulmonary artery stenosis	ORPHA:436003
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,...	OMIM:616843
Noonan Syndrome 7	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613706
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Mandibulofacial Dysostosis-Microcephaly Syndrome	Atrial septal defect	ORPHA:79113
Pelger-Huet Anomaly	Ventricular septal defect	OMIM:169400
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Bdv Syndrome	Atrial septal defect	OMIM:619326
Congenital Tracheal Stenosis	Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left...	ORPHA:141127
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve	OMIM:619720
17Q23.1Q23.2 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:261279
Loeys-Dietz Syndrome 5	Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec...	OMIM:615582
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:397709
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Ventricular septal defect	ORPHA:166035
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa...	ORPHA:26793
Immunodeficiency 110 With Lymphoproliferation	Secundum atrial septal defect, Patent foramen ovale	OMIM:614868
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:614609
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,...	OMIM:610443
Congenital Disorder Of Glycosylation, Type It	Dilated cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Cardiomegaly	OMIM:614921
Thoracoabdominal Syndrome	Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries	OMIM:313850
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79345
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:175700
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect	ORPHA:79243
Oculoectodermal Syndrome	Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:600268
Pseudo-Torch Syndrome 1	Patent ductus arteriosus, Patent foramen ovale	OMIM:251290
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia	OMIM:614294
Zaki Syndrome	Patent ductus arteriosus, Patent foramen ovale	OMIM:619648
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
19P13.12 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:254346
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Patent ductus arteriosu...	ORPHA:99776
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Syndromic Diarrhea	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:84064
Infantile Sialic Acid Storage Disease	Hydrocephalus	OMIM:269920
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage, Interrupted aortic ...	ORPHA:163979
7Q31 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus after birth at term	ORPHA:251061
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Atrial septal defect, Patent ductus arteriosus, Dextrocardia	OMIM:277380
Adams-Oliver Syndrome 5	Right ventricular hypertrophy, Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement	OMIM:616028
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm	ORPHA:261330
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Chops Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve...	OMIM:616368
Al Kaissi Syndrome	Atrial septal defect	OMIM:617694
Trisomy 1Q	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261344
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect	ORPHA:3078
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,...	OMIM:175050
Opitz Gbbb Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Persistent left s...	ORPHA:2745
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Patent ductus arteriosus, Neonatal death, Atrial septal defect, Aortic va...	OMIM:208540
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm	ORPHA:96201
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Neurocardiofaciodigital Syndrome	Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:619869
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Coarctation of aorta	ORPHA:268249
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef...	OMIM:235510
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At...	OMIM:610759
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect	OMIM:613309
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus	ORPHA:1914
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta...	ORPHA:261494
Intellectual Disability-Strabismus Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:363528
Lateral Meningocele Syndrome	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm	OMIM:130720
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
De Barsy Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ...	ORPHA:2962
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen...	ORPHA:1600
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:619123
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Ascending tubular ao...	ORPHA:453499
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:619383
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Atrial septal defect, Mitral valve prolapse	OMIM:300986
Proximal 16P11.2 Microdeletion Syndrome	Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology	ORPHA:261197
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Lowry-Maclean Syndrome	Atrioventricular canal defect, Coarctation of aorta	ORPHA:2409
Arterial Tortuosity Syndrome	Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopathy, Arterial stenosis, Aortic root an...	ORPHA:3342
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Atrial septal defect, Aortic valve stenosis	ORPHA:459061
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616449
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Fetal Alcohol Syndrome	Atrial septal defect	ORPHA:1915
8P11.2 Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Mitral valve prolapse	ORPHA:251066
Aica-Ribosuria Due To Atic Deficiency	Secundum atrial septal defect	OMIM:608688
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Situs inversus totalis	OMIM:202650
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Myopathy With Extrapyramidal Signs	Ventricular septal defect	OMIM:615673
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect	ORPHA:476126
Hamamy Syndrome	Atrial septal defect, Complete atrioventricular canal defect	OMIM:611174
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect	OMIM:617360
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:225790
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Transient ischemic attack, Anomalous pulmonary venous return, Right vent...	ORPHA:99104
19P13.3 Microduplication Syndrome	Ventricular septal defect	ORPHA:447980
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:244450
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Wiedemann-Steiner Syndrome	Atrial septal defect, Patent ductus arteriosus	OMIM:605130
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus	OMIM:241800
Temple Syndrome	Hydrocephalus	ORPHA:254516
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Toriello-Carey Syndrome	Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog...	ORPHA:3338
Fg Syndrome Type 1	Atrial septal defect, Coarctation of aorta, Mitral valve prolapse	ORPHA:93932
Chromosome 10Q26 Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus	OMIM:609625
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Bicuspid aortic valve, Thoracic aortic aneur...	OMIM:613795
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hydrocephalus	ORPHA:171839
Arachnoiditis	Hydrocephalus	ORPHA:137817
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Meier-Gorlin Syndrome 7	Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:617063
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:277600
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Patent foramen ovale	ORPHA:542306
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Joubert Syndrome 14	Intracranial hemorrhage, Ventricular septal defect	OMIM:614424
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Patent ductus arteriosus	OMIM:618162
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Abnormal mitral valve morphology	ORPHA:1292
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Secundum atrial septal defect	OMIM:620194
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261236
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Mucopolysaccharidosis-Plus Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus	OMIM:617303
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:123700
Hogue-Janssen Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:616362
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Secundum atrial septal defect	OMIM:620242
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect	OMIM:620183
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Patent foramen ovale, Pulmonic stenosis	OMIM:618914
Fanconi Anemia, Complementation Group F	Atrial septal defect, Patent ductus arteriosus	OMIM:603467
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:609757
Noonan Syndrome 13	Atrial septal defect, Mitral valve prolapse	OMIM:619087
Costello Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse	ORPHA:3071
C Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect	ORPHA:2728
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect	ORPHA:93947
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Vascular dilatation, Varicose veins, Pulmonic stenosis, Aortic dissection	OMIM:618343
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Mosaic Trisomy 1	Pulmonary artery atresia, Ventricular septal defect, Coarctation of aorta	ORPHA:1692
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Hypo...	ORPHA:508488
3Mc Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:257920
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:370959
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia, Thyroid lymph...	OMIM:235255
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Atrial septal defect, Patent foramen ovale	OMIM:619184
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Gm1 Gangliosidosis	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Cardiomyopathy, C...	ORPHA:354
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap...	ORPHA:2396
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Atrial septal defect, Aortic root aneurysm	OMIM:618891
Coffin-Siris Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:1465
White-Sutton Syndrome	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:616364
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch	ORPHA:250989
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d...	OMIM:245600
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect, Left superior vena cava draining to coronary sinus	ORPHA:464738
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect, Dilation of Virchow-Robin spaces	OMIM:619951
Osteopathia Striata-Cranial Sclerosis Syndrome	Aortic valve stenosis, Coarctation of aorta	ORPHA:2780
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Pulmonary artery at...	OMIM:616894
Alagille Syndrome 1	Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def...	OMIM:118450
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Hypertrophic cardiomyopathy	OMIM:619121
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P...	OMIM:300707
Short Stature-Micrognathia Syndrome	Ventricular septal defect	OMIM:617164
Duane-Radial Ray Syndrome	Atrial septal defect, Ventricular septal defect, Vascular dilatation	OMIM:607323
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Vascular ring	OMIM:616954
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Right atrial enlargement	OMIM:615219
Brain-Lung-Thyroid Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram...	ORPHA:209905
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Congenital Disorder Of Glycosylation, Type Ig	Patent ductus arteriosus, Patent foramen ovale	OMIM:607143
Pagod Syndrome	Situs inversus totalis, Pulmonary artery hypoplasia, Abnormal aortic morphology, Hypoplastic left...	ORPHA:991
Lethal Kniest-Like Dysplasia	Atrial septal defect	ORPHA:2347
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Autosomal Recessive Robinow Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic morphology, Abnor...	ORPHA:1507
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:618454
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:619833
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta	OMIM:617260
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Gabriele-De Vries Syndrome	Patent foramen ovale, Aortopulmonary collateral arteries	OMIM:617557
Ramos-Arroyo Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:1051
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
19Q13.11 Microdeletion Syndrome	Ventricular septal defect	ORPHA:217346
Distal Deletion 10Q	Atrial septal defect, Patent ductus arteriosus	ORPHA:96148
Temple Syndrome	Hydrocephalus	OMIM:616222
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Patent ductus arteriosus	OMIM:300968
Larsen Syndrome	Atrial septal defect, Ventricular septal defect, Aortic aneurysm	OMIM:150250
Mosaic Variegated Aneuploidy Syndrome	Atrial septal defect, Abnormal aortic morphology, Coarctation of aorta, Subvalvular aortic stenosis	ORPHA:1052
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascul...	ORPHA:1900
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:613457
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:620156
Short-Rib Thoracic Dysplasia 12	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Neonatal death	OMIM:269860
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Bohring-Opitz Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:605039
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Pallister-Hall Syndrome	Neonatal death, Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the...	OMIM:146510
Leopard Syndrome 1	Complete atrioventricular canal defect, Mitral valve prolapse, Pulmonic stenosis, Subvalvular aor...	OMIM:151100
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,...	OMIM:164280
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis,...	ORPHA:96121
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal...	ORPHA:3047
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Atrial septal defect, Patent ductus arteriosus	OMIM:614080
Ellis-Van Creveld Syndrome	Atrial septal defect, Common atrium	OMIM:225500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Atrial septal defect	OMIM:614207
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Mgat2-Cdg	Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:79329
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At...	ORPHA:97360
Weill-Marchesani Syndrome 2	Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos...	OMIM:608328
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa...	ORPHA:17
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Meester-Loeys Syndrome	Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti...	OMIM:300989
Bresek Syndrome	Hydrocephalus	ORPHA:85284
Cerebellar-Facial-Dental Syndrome	Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse	ORPHA:444072
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Omodysplasia 1	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	OMIM:258315
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect	OMIM:615503
Cutis Laxa, Autosomal Recessive, Type Iid	Atrial septal defect, Ascending tubular aorta aneurysm, Hypertrophic cardiomyopathy, Hypoplastic ...	OMIM:617403
Microcephaly 26, Primary, Autosomal Dominant	Patent foramen ovale	OMIM:619179
3Q29 Microduplication Syndrome	Ventricular septal defect	ORPHA:251038
Gorlin Syndrome	Hydrocephalus	ORPHA:377
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ...	OMIM:139210
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect	OMIM:619758
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia	ORPHA:1655
Paternal Uniparental Disomy Of Chromosome 6	Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:274000
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect	OMIM:612530
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect, Hypertrophic cardiomyo...	ORPHA:505248
Tarp Syndrome	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava	ORPHA:2886
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology...	ORPHA:124
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:606232
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect	ORPHA:457351
Hardikar Syndrome	Ventricular septal defect, Patent ductus arteriosus, Partial anomalous pulmonary venous return, P...	OMIM:301068
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Oligomeganephronia	Secundum atrial septal defect, Pulmonary venous occlusion	ORPHA:2260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Patent foramen ovale, Perip...	ORPHA:280633
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect	OMIM:207410
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Retinal arteriolar tortuosity, Pa...	ORPHA:567
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Aneurysm-Osteoarthritis Syndrome	Arterial dissection, Arterial tortuosity, Patent ductus arteriosus, Abnormal heart morphology, Di...	ORPHA:284984
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:60040
Juvenile Polyposis Of Infancy	Atrial septal defect, Patent ductus arteriosus, Abnormal heart morphology	ORPHA:79076
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:615802
Sweeney-Cox Syndrome	Patent ductus arteriosus, Patent foramen ovale	OMIM:617746
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Kleefstra Syndrome 1	Conotruncal defect	OMIM:610253
Combined Oxidative Phosphorylation Deficiency 3	Patent ductus arteriosus, Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic c...	OMIM:610505
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Diets-Jongmans Syndrome	Interrupted inferior vena cava with azygous continuation, Ventricular septal defect	OMIM:618846
Alg9-Cdg	Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Right ventricular dil...	ORPHA:79328
Donnai-Barrow Syndrome	Ventricular septal defect	OMIM:222448
Mogs-Cdg	Atrial septal defect, Left ventricular hypertrophy, Cardiomegaly	ORPHA:79330
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Renal Agenesis	Ventricular septal defect	ORPHA:411709
Hydrolethalus Syndrome 1	Complete atrioventricular canal defect, Stillbirth, Ventricular septal defect	OMIM:236680
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly	ORPHA:2169
Eisenmenger Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal heart morpho...	ORPHA:97214
Diamond-Blackfan Anemia 1	Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta	OMIM:105650
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Fibrochondrogenesis 1	Stillbirth, Patent foramen ovale	OMIM:228520
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Atrial septal defect, Restrictive cardiomyopathy, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:369837
Neurodevelopmental Disorder With Spasticity And Poor Growth	Patent ductus arteriosus, Patent foramen ovale	OMIM:618076
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Hydrolethalus	Hydrocephalus, Anencephaly	ORPHA:2189
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Abnormal internal carotid artery morphology, Peripheral arterial sten...	ORPHA:391665
Holoprosencephaly	Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aor...	ORPHA:2162
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Zellweger Syndrome	Ventricular septal defect	ORPHA:912
Noonan Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr...	OMIM:163950
Monosomy 13Q34	Common atrium, Pulmonic stenosis	ORPHA:96168
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly	OMIM:617866
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta	ORPHA:1199
Genitopatellar Syndrome	Atrial septal defect	ORPHA:85201
Fanconi Anemia	Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, A...	ORPHA:84
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353281
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri...	OMIM:612541
Hypothyroidism, Congenital, Nongoitrous, 5	Patent foramen ovale	OMIM:225250
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:238769
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:607721
Osteopathia Striata With Cranial Sclerosis	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:300373
Proximal Spinal Muscular Atrophy	Atrial septal defect	ORPHA:70
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:619575
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:251014
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617822
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ventricular septal defect	OMIM:243150
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ...	ORPHA:466791
Rabson-Mendenhall Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:769
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
2Q37 Microdeletion Syndrome	Abnormal aortic morphology	ORPHA:1001
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect	OMIM:619306
Cerebrocostomandibular Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:117650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:352665
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect	OMIM:178110
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:613458
Mucopolysaccharidosis Type 2	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi...	ORPHA:580
Ring Chromosome 12 Syndrome	Secundum atrial septal defect	ORPHA:1439
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Thauvin-Robinet-Faivre Syndrome	Varicose veins, Ventricular septal defect, Mitral valve prolapse	OMIM:617107
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta	OMIM:619480
Microgastria-Limb Reduction Defect Syndrome	Atrial septal defect, Truncus arteriosus	ORPHA:2538
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect	ORPHA:261323
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly	ORPHA:59315
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus	OMIM:619320
Neu-Laxova Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Transposition of the great arter...	OMIM:256520
Khan-Khan-Katsanis Syndrome	Bilateral superior vena cava with no bridging vein, Patent foramen ovale, Patent ductus arteriosu...	OMIM:618460
Peroxisome Biogenesis Disorder 1A (Zellweger)	Patent ductus arteriosus, Ventricular septal defect	OMIM:214100
Marfan Syndrome	Mitral valve calcification, Descending aortic dissection, Dilatation of an abdominal artery, Mitr...	ORPHA:558
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus	OMIM:615249
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Distal Deletion 6P	Atrial septal defect	ORPHA:96125
Trichohepatoenteric Syndrome 1	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:222470
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Cardiofaciocutaneous Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten...	ORPHA:1340
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Ventricular septal defect	OMIM:263520
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Jacobsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:147791
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta	OMIM:617088
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620005
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Renpenning Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis	OMIM:309500
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Trisomy 18	Atrial septal defect, Ventricular septal defect	ORPHA:3380
Walker-Warburg Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:899
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Focal Dermal Hypoplasia	Patent ductus arteriosus, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:2092
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Carotid artery dilatation, Dilatation of the cerebral art...	ORPHA:391487
Mosaic Variegated Aneuploidy Syndrome 1	Atrial septal defect, Pulmonic stenosis	OMIM:257300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Ventriculomegaly	OMIM:614969
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula...	ORPHA:459070
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus	OMIM:259710
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi...	ORPHA:217085
Bardet-Biedl Syndrome 20	Atrial septal defect	OMIM:619471
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Keutel Syndrome	Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Ventricular septal defect, Pul...	OMIM:245150
Cardiofaciocutaneous Syndrome 1	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:115150
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Orofaciodigital Syndrome Vi	Hypoplastic left heart, Coarctation of aorta	OMIM:277170
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi...	ORPHA:217093
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus	ORPHA:2318
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Patent foramen ovale, Vascular dilatation, Right ventricula...	OMIM:613177
Peroxisome Biogenesis Disorder 5A (Zellweger)	Atrial septal defect, Ventricular septal defect	OMIM:614866
Spondyloocular Syndrome	Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve	OMIM:605822
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor...	ORPHA:363958
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Trisomy 17P	Hydrocephalus	ORPHA:261290
Doors Syndrome	Double outlet right ventricle	ORPHA:79500
Marshall-Smith Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Dysplastic aortic valve	OMIM:602535
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Patent foramen ovale, Arteria lusoria	OMIM:618653
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Abnormal heart valve morphology, Ascending tubular aorta aneurysm, Pulmoni...	ORPHA:536471
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus	ORPHA:220497
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect	OMIM:301044
Cohen Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Vater/Vacterl Association	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr...	OMIM:192350
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat...	ORPHA:438213
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect	OMIM:614653
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Patent ductus arteriosus, Patent foramen ovale	ORPHA:457395
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect	ORPHA:464311
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Atrial septal defect, Patent ductus arteriosus	OMIM:213980
Jacobsen Syndrome	Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	ORPHA:2308
Fontaine Progeroid Syndrome	Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, Patent ductus arteriosu...	OMIM:612289
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus	ORPHA:1834
Den Hoed-De Boer-Voisin Syndrome	Ventricular septal defect	OMIM:619229
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste...	OMIM:235730
Neurooculorenal Syndrome	Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro...	OMIM:620305
Trichohepatoneurodevelopmental Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:618268
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1812
Goldberg-Shprintzen Syndrome	Ventricular septal defect	OMIM:609460
Diamond-Blackfan Anemia 21	Secundum atrial septal defect	OMIM:620072
Schimmelpenning-Feuerstein-Mims Syndrome	Coarctation of aorta	OMIM:163200
Alport Syndrome	Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology	ORPHA:63
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:616975
Restrictive Dermopathy	Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr...	ORPHA:1662
Ulnar-Mammary Syndrome	Ventricular septal defect	ORPHA:3138
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Varicose veins, Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prol...	ORPHA:500095
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:154400
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus	ORPHA:220493
Fryns Syndrome	Atrial septal defect, Stillbirth, Ventricular septal defect	OMIM:229850
Zttk Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617140
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Cutis Laxa, Autosomal Recessive, Type Iic	Prominent superficial veins, Mitral valve prolapse, Biventricular hypertrophy, Atrial septal defe...	OMIM:617402
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353277
Magel2-Related Prader-Willi-Like Syndrome	Atrial septal defect	ORPHA:398069
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus	OMIM:259700
Histiocytoid Cardiomyopathy	Stroke-like episode, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus	ORPHA:1865
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Atrial septal defect, Dilation of Virchow-Robin spaces	OMIM:619512
47,Xyy Syndrome	Hydrocephalus	ORPHA:8
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve	OMIM:613355
Bent Bone Dysplasia Syndrome 2	Atrial septal defect	OMIM:620076
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic root aneur...	ORPHA:444077
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Achondroplasia	Hydrocephalus	ORPHA:15
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten...	OMIM:616268
Biliary, Renal, Neurologic, And Skeletal Syndrome	Pulmonary artery dilatation, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inve...	OMIM:619534
Frontometaphyseal Dysplasia 2	Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis	OMIM:617137
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert...	OMIM:218040
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus	ORPHA:974
Restrictive Dermopathy 1	Atrial septal defect, Patent ductus arteriosus, Stillbirth, Neonatal death	OMIM:275210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:614643
Dyrk1A-Related Intellectual Disability Syndrome	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect	ORPHA:464306
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Patent ductus arteriosus, Patent foramen ovale	OMIM:300990
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art...	OMIM:607872
Vici Syndrome	Atrial septal defect, Cardiomyopathy, Dilated cardiomyopathy, Left ventricular hypertrophy	OMIM:242840
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect	OMIM:616546
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Congenital Sialidosis Type 2	Hydrocephalus	ORPHA:93400
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Atrial septal defect	ORPHA:522077
Prader-Willi Syndrome Due To Translocation	Patent ductus arteriosus, Patent foramen ovale, Abnormal heart morphology	ORPHA:177907
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron...	ORPHA:51608
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Atrial septal defect, Patent ductus arteriosus	OMIM:300868
Genitopalatocardiac Syndrome	Hydrocephalus	ORPHA:2075
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Distal 22Q11.2 Microduplication Syndrome	Patent ductus arteriosus, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:261337
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A...	ORPHA:363700
Orofaciodigital Syndrome Xiv	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615948
Cerebrocostomandibular Syndrome	Ventricular septal defect	ORPHA:1393
Turnpenny-Fry Syndrome	Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, ...	OMIM:618371
Cranioectodermal Dysplasia 2	Atrial septal defect, Patent ductus arteriosus, Left ventricular hypertrophy, Patent foramen ovale	OMIM:613610
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Ventricular septal defect	ORPHA:513456
Limb Body Wall Complex	Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology	ORPHA:2369
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus	OMIM:239300
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus	OMIM:608091
Fanconi Anemia, Complementation Group C	Ventricular septal defect	OMIM:227645
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Ventriculomegaly	OMIM:613150
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:488632
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:102500
Multiple Sulfatase Deficiency	Hydrocephalus	ORPHA:585
Smith-Lemli-Opitz Syndrome	Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal...	ORPHA:818
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Desmosterolosis	Hydrocephalus, Ventriculomegaly	ORPHA:35107
Ctcf-Related Neurodevelopmental Disorder	Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta	ORPHA:363611
Kabuki Syndrome	Abnormal cardiac septum morphology, Coarctation of aorta	ORPHA:2322
Leigh Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect	ORPHA:506
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Pulmonary artery stenosis, Abnormal aortic arch morphology, Atrial sep...	ORPHA:96334
Loeys-Dietz Syndrome	Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d...	ORPHA:60030
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus	OMIM:616482
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve	OMIM:271640
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Renal artery stenosis, Atrial septal def...	ORPHA:3472
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:270400
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Marfan Syndrome	Bicuspid aortic valve, Mitral annular calcification, Mitral valve prolapse, Ascending tubular aor...	OMIM:154700
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Digeorge Syndrome	Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Truncus arteriosus,...	OMIM:188400
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly	ORPHA:395
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:147920
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Floating-Harbor Syndrome	Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta	OMIM:136140
Degcags Syndrome	Ventricular septal defect, Patent ductus arteriosus, Persistent left superior vena cava, Pulmonic...	OMIM:619488
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus	ORPHA:3301
Whipple Disease	Hydrocephalus	ORPHA:3452
Apert Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:87
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Holoprosencephaly, Ventriculomegaly	OMIM:612651
Floating-Harbor Syndrome	Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe...	ORPHA:2044
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida	OMIM:613776
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect, Aortic valve stenosis, Mitral stenosis	ORPHA:955
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:613603
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus	ORPHA:1555
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri...	OMIM:614976
Oculodentodigital Dysplasia	Atrial septal defect	OMIM:164200
Marden-Walker Syndrome	Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th...	ORPHA:2461
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Atrial septal defect, Total anomalous pulmonary venous return	OMIM:609945
Mucopolysaccharidosis, Type Ii	Hydrocephalus	OMIM:309900
Autosomal Dominant Cutis Laxa	Dilatation of the ventricular cavity, Aortic aneurysm, Peripheral pulmonary artery stenosis, Coar...	ORPHA:90348
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Oculodentodigital Dysplasia	Ventricular septal defect	ORPHA:2710
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Atrioventricular canal defect, Dilated cardiomyopathy, Biventricular hypert...	OMIM:619573
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect	OMIM:609069
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida	ORPHA:3412
Mucolipidosis Type Ii	Abnormal mitral valve morphology, Cardiomyopathy, Abnormal aortic valve morphology, Left ventricu...	ORPHA:576
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Charge Syndrome	Aortic arch aneurysm, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aort...	ORPHA:138
Mirage Syndrome	Hydrocephalus	OMIM:617053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Ventricu...	OMIM:236670
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:123790
Turner Syndrome Due To Structural X Chromosome Anomalies	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Coarctation of aorta, Gastroint...	ORPHA:99413
Mosaic Monosomy X	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Coarctation of aorta, Gastroint...	ORPHA:99228
Monosomy X	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Coarctation of aorta, Gastroint...	ORPHA:99226
Turner Syndrome	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Coarctation of aorta, Gastroint...	ORPHA:881
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Normal pressure hydrocephalus	ORPHA:300570
Trichothiodystrophy	Cardiomyopathy, Ventricular septal defect	ORPHA:33364
Meckel Syndrome, Type 1	Patent ductus arteriosus, Abnormal cardiac septum morphology, Vascular dilatation, Coarctation of...	OMIM:249000
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect	ORPHA:436252
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus	ORPHA:1454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Penile Agenesis	Atrial septal defect, Ventricular septal defect	ORPHA:49
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Liver Disease, Severe Congenital	Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c...	OMIM:619991
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Patent foramen ovale	ORPHA:96149
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:605627
Hurler Syndrome	Hydrocephalus	OMIM:607014
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
Desmosterolosis	Hydrocephalus, Ventriculomegaly	OMIM:602398
Mucopolysaccharidosis, Type Vii	Hydrocephalus	OMIM:253220
Galloway-Mowat Syndrome 3	Coarctation of aorta	OMIM:617729
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Ventricular septal defect	OMIM:619418
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Mitral valve pro...	OMIM:194050
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:314585
Simpson-Golabi-Behmel Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:373
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Ventriculomegaly	OMIM:259720
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Wolf-Hirschhorn Syndrome	Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart valve morphology	ORPHA:280
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly	ORPHA:228308
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Coffin-Siris Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:135900
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Alexander Disease	Aqueductal stenosis, Hydrocephalus	ORPHA:58
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus	OMIM:104350
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Ventricular septal defect	OMIM:619525
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Dextrocardia	Hydrocephalus	ORPHA:1666
Achondroplasia	Hydrocephalus	OMIM:100800
Neurofibromatosis-Noonan Syndrome	Secundum atrial septal defect, Pulmonic stenosis	OMIM:601321
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hydrocephalus	ORPHA:90652
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Total anomalous pulmonary ve...	OMIM:312870
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aorta, Left ventricul...	OMIM:220111
Faciocardiomelic Syndrome	Common atrium	OMIM:612731
Mohr Syndrome	Hydrocephalus	OMIM:252100
Helsmoortel-Van Der Aa Syndrome	Atrial septal defect, Mitral valve prolapse, Abnormal heart morphology	OMIM:615873
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus	OMIM:101800
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Townes-Brocks Syndrome	Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology...	ORPHA:857
Cousin Syndrome	Hydranencephaly, Hydrocephalus	OMIM:260660
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619522
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Medulloblastoma	Hydrocephalus	ORPHA:616
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus	ORPHA:157
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:620186
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus	OMIM:182212
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Tetrasomy 9P	Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Abnormal cardiac septum morphol...	ORPHA:3310
Diphallia	Atrial septal defect, Abnormal heart morphology	ORPHA:227
Cornelia De Lange Syndrome 1	Ventricular septal defect	OMIM:122470
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Patent ductus arteriosus, Aortic rupture	OMIM:614557
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Mucopolysaccharidosis Type 1	Hydrocephalus	ORPHA:579
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect	ORPHA:2526
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis	OMIM:250220
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	ORPHA:672
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypoglycorrhachia, Increased CSF pr...	ORPHA:228123
Monosomy 9Q22.3	Hydrocephalus, Ventriculomegaly	ORPHA:77301
17Q11 Microdeletion Syndrome	Abnormal internal carotid artery morphology, Coarctation of aorta, Abnormal heart morphology, Dil...	ORPHA:97685
Schinzel-Giedion Midface Retraction Syndrome	Atrial septal defect	OMIM:269150
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve, Coarctation of aorta	ORPHA:1772
H Syndrome	Hydrocephalus	ORPHA:168569
Otopalatodigital Syndrome, Type Ii	Atrial septal defect, Stillbirth, Dilatation of the sinus of Valsalva	OMIM:304120
Osteogenesis Imperfecta	Abnormal endocardium morphology, Cerebral hemorrhage, Mitral valve prolapse, Aortic root aneurysm...	ORPHA:666
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Transient ischemic attack, Patent ductus arteriosus after birth at term, Abnormal heart morpholog...	ORPHA:500150
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic...	OMIM:143095
Hurler Syndrome	Hydrocephalus	ORPHA:93473
Opitz-Kaveggia Syndrome	Hydrocephalus	OMIM:305450
Dubowitz Syndrome	Hydrocephalus, Spina bifida occulta	ORPHA:235
Igg4-Related Kidney Disease	Pericarditis, Abnormal aortic morphology, Arteritis	ORPHA:449395
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse	OMIM:601776
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly	OMIM:618188
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Stromme Syndrome	Hydrocephalus	OMIM:243605
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Patent foramen ovale	ORPHA:477993
Aymé-Gripp Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:1272
Craniofacial Microsomia 1	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Tet...	OMIM:164210
Roberts-Sc Phocomelia Syndrome	Atrial septal defect, Patent ductus arteriosus, Stillbirth, Ventricular septal defect	OMIM:268300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus	ORPHA:536467
Raine Syndrome	Hydrocephalus	OMIM:259775
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Poland Syndrome	Atrial septal defect, Dextrocardia	ORPHA:2911
Mucopolysaccharidosis Type 3	Hydrocephalus, Ventriculomegaly	ORPHA:581
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Dilatation of the cerebral artery, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm	OMIM:619475
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch	ORPHA:457284
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h...	ORPHA:268261
Cocaine Intoxication	Subarachnoid hemorrhage, Ischemic stroke, Cerebral hemorrhage, Aortic dissection	ORPHA:90068
Vascular Ehlers-Danlos Syndrome	Peripheral arteriovenous fistula, Abnormal heart valve morphology, Arterial dissection, Transient...	ORPHA:286
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect	OMIM:300896
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus	OMIM:253200
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation	ORPHA:564
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Blomstrand Lethal Chondrodysplasia	Coarctation of aorta	ORPHA:50945
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:2462
Peters-Plus Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:261540
Mandibuloacral Dysplasia Progeroid Syndrome	Left ventricular hypertrophy, Mitral valve calcification, Patent foramen ovale	OMIM:619127
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus	ORPHA:79282
Wolf-Hirschhorn Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:194190
Perlman Syndrome	Interrupted aortic arch	OMIM:267000
Sotos Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:821
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus	ORPHA:480880
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Coffin-Siris Syndrome 12	Tetralogy of Fallot, Patent foramen ovale	OMIM:619325
Orofaciodigital Syndrome I	Myelomeningocele, Hydrocephalus	OMIM:311200
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Trisomy 8P	Hydrocephalus, Dandy-Walker malformation	ORPHA:264450
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hydrocephalus	ORPHA:95699
Genitopatellar Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:606170
Fanconi Anemia, Complementation Group L	Hydrocephalus	OMIM:614083
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Fanconi Anemia, Complementation Group D2	Hydrocephalus	OMIM:227646
Johanson-Blizzard Syndrome	Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Atrial septal defect, ...	OMIM:243800
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:401973
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:300960
Cryptococcosis	Hydrocephalus	ORPHA:1546
Cornelia De Lange Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:199
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Nicolaides-Baraitser Syndrome	Coarctation of aorta	OMIM:601358
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Spinal dysraphism	OMIM:114290
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Holoprosencephaly 9	Hydrocephalus, Holoprosencephaly	OMIM:610829
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrial septal defect, Neonatal death	OMIM:308205
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Secundum atrial septal defect, Vascular tortuosity, Subarterial ventricular septal defect	ORPHA:99646
Pallister-Killian Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Stillbirth, Aortic val...	OMIM:601803
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus	ORPHA:309282
Lenz-Majewski Hyperostotic Dwarfism	Hydrocephalus	ORPHA:2658
Ulnar-Mammary Syndrome	Ventricular septal defect	OMIM:181450
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ...	ORPHA:261552
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Meningioma	Hydrocephalus	ORPHA:2495
Gaucher Disease	Hydrocephalus, Ventriculomegaly	ORPHA:355
Microphthalmia With Limb Anomalies	Hydrocephalus	ORPHA:1106
Pseudoaminopterin Syndrome	Hydrocephalus	ORPHA:221120
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2072
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Hydrocephalus	OMIM:219000
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect	OMIM:620330
Cockayne Syndrome A	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:216400
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Ventriculomegaly	ORPHA:457359
Mowat-Wilson Syndrome	Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Abnormal heart morpholog...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Abnormal hear...	ORPHA:261537
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus	ORPHA:2556
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus	ORPHA:667
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:93924
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus	ORPHA:220386
Oeis Complex	Myelomeningocele, Hydrocephalus	OMIM:258040
Cockayne Syndrome B	Normal pressure hydrocephalus	OMIM:133540
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus, Dandy-Walker malformation	OMIM:264090
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus	OMIM:619321
Focal Dermal Hypoplasia	Hydrocephalus, Spina bifida occulta, Myelomeningocele	OMIM:305600
Neurofibromatosis Type 1	Hydrocephalus	ORPHA:636
Baller-Gerold Syndrome	Hydrocephalus, Spina bifida occulta	OMIM:218600
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mild fetal ventriculomegaly	OMIM:619841
Yunis-Varon Syndrome	Cardiomyopathy, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale	OMIM:216340
Peters Plus Syndrome	Hydrocephalus, Spina bifida occulta, Ventriculomegaly	ORPHA:709
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus	ORPHA:3042
Wiedemann-Rautenstrauch Syndrome	Hydrocephalus	ORPHA:3455
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780

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 Fgf15

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 Fgf15.

No publications found that use IMPC mice or data for Fgf15.

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

MGI Allele	Allele Type	Produced
Fgf15^{tm213553(L1L2_Bact_P)}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors
Fgf15^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Fgf15^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, 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: Fgf15 MGI:1096383

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

MicroCT E14.5-E15.5

X-ray

Embryo LacZ

X-ray

Human diseases caused by Fgf15 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data