Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Nodal MGI:97359

Gene Summary

Name:

nodal

Synonyms:

Tg.413d

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Nodal^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating HDL cholesterol level	Nodal^{tm1b(EUCOMM)Wtsi}	HET	Early adult	8.41×10^-07
decreased locomotor activity	Nodal^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.39×10^-05
embryonic lethality prior to tooth bud stage	Nodal^{tm1b(EUCOMM)Wtsi}	HOM	E12.5	0.00
increased large unstained cell number	Nodal^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.18×10^-05
corneal vascularization	Nodal^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.15×10^-05
increased circulating cholesterol level	Nodal^{tm1b(EUCOMM)Wtsi}	HET	Early adult	3.58×10^-05
increased circulating triglyceride level	Nodal^{tm1b(EUCOMM)Wtsi}	HET	Early adult	9.36×10^-07
abnormal startle reflex	Nodal^tm1Rob	HET	Early adult	8.58×10^-05
increased grip strength	Nodal^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.09×10^-08

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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

No Embryo expression data was found for this gene.

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

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

No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

View images

Adult LacZ

LacZ Images Wholemount

1 Images

View images

Human diseases caused by Nodal 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 Nodal (7 diseases)
Human diseases predicted to be associated with Nodal (1172 diseases)

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

Disease	Matching phenotypes	Source
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres...	OMIM:270100
Microform Holoprosencephaly	Tetralogy of Fallot, Holoprosencephaly, Cleft palate, Duodenal atresia	ORPHA:280200
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Abnormal midbrain morphology, Hypoplasia of the pons, Ethmoidal encephalo...	ORPHA:280195
Semilobar Holoprosencephaly	Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes...	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes...	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes...	ORPHA:93924

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

Disease	Matching phenotypes	Source
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction	OMIM:108725
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia	OMIM:144300
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu...	ORPHA:1330
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa...	OMIM:619702
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Asplenia, Atrioventricular canal de...	OMIM:605376
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect...	OMIM:608978
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Hypertension, Myocardial infarction	OMIM:608320
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres...	OMIM:270100
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Hepatic Lipase Deficiency	Hypertriglyceridemia, Angina pectoris, Corneal arcus, Increased HDL cholesterol concentration, Hy...	OMIM:614025
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula...	OMIM:144250
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester...	OMIM:616516
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Acalvaria	Spina bifida, Hydrocephalus, Abnormal lung lobation, Cleft palate, Holoprosencephaly	ORPHA:945
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia	OMIM:619175
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Intestin...	ORPHA:244
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Proximal am...	OMIM:253300
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc...	OMIM:610947
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r...	OMIM:620294
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Normochromic ane...	OMIM:245900
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he...	DECIPHER:39
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Diabetic Embryopathy	Ventricular septal defect, Abnormality of the pancreas, Hydrocephalus, Cleft palate, Spinal dysra...	ORPHA:1926
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri...	OMIM:619657
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter...	ORPHA:3097
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposition of the grea...	OMIM:314390
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane...	ORPHA:1908
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale	OMIM:611363
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Triploidy	Hepatomegaly, Intestinal malrotation, Abnormality of the pancreas, Hydrocephalus, Meningocele, Ab...	ORPHA:3376
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph...	ORPHA:1354
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Conjunc...	OMIM:603552
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	ORPHA:94124
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He...	OMIM:613807
Distal Deletion 13Q	Encephalocele, Anencephaly, Abnormal cardiac septum morphology, Holoprosencephaly, Anal atresia	ORPHA:1590
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia	OMIM:603776
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	OMIM:607250
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Difficu...	OMIM:610717
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ...	OMIM:615558
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu...	ORPHA:99050
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
Glycogen Storage Disease Ixa1	Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia	OMIM:306000
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Holoprosencephaly	OMIM:617967
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia	OMIM:144010
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia	OMIM:615924
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Splenomegaly,...	OMIM:617388
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Abnorma...	OMIM:615415
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Hypop...	ORPHA:3426
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Holopros...	ORPHA:93274
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu...	OMIM:616000
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Ventricular septal defect, Holoprosencephaly, Anterior encephalocele	OMIM:601357
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, High palate, H...	OMIM:609637
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations	ORPHA:488650
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Holoprosencephaly, Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs	ORPHA:2570
Cardioacrofacial Dysplasia 2	Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus	OMIM:619143
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Cholesteryl Ester Storage Disease	Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hypertriglyceridemia	OMIM:614480
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Microphthalmia, Syndromic 9	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Agenesis of pulmonary vessel...	OMIM:601186
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr...	OMIM:277460
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ...	OMIM:601612
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Hartsfield Syndrome	Encephalocele, Cleft palate, Lobar holoprosencephaly	ORPHA:2117
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Hypertriglyceridemia	ORPHA:71529
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells	OMIM:620282
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo...	OMIM:617877
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi...	OMIM:208540
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation	ORPHA:1705
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia	ORPHA:89844
Xeroderma Pigmentosum, Complementation Group D	Cataract, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunc...	OMIM:278730
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Hypoglossia With Situs Inversus	Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia	OMIM:612776
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin...	OMIM:300635
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron...	OMIM:615482
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Atelectasis...	OMIM:269860
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Dextrocardia, Intestinal malrotation, Meningocele, Duodenal stenosis, Abnormal tric...	ORPHA:1759
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Dextrocardia	Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of...	ORPHA:1666
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra...	OMIM:616828
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, High palate, Transposit...	OMIM:201000
Heart Defects, Congenital, And Other Congenital Anomalies	Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricuspid valve, Patent...	OMIM:600001
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia	OMIM:617577
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester...	ORPHA:650
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin...	OMIM:208920
Thoracoabdominal Syndrome	Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, Transposition of the great ar...	OMIM:313850
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis...	ORPHA:229
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H...	OMIM:264480
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615396
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Monosomy 13Q34	Common atrium, Hepatic steatosis, Pulmonic stenosis	ORPHA:96168
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa...	ORPHA:185
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death	OMIM:620203
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi...	OMIM:132900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra...	OMIM:253800
Cerebellofaciodental Syndrome	Hypoplasia of the pons, Hypoplasia of the midbrain, Ventricular septal defect, Mitral valve prolapse	OMIM:616202
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia...	ORPHA:251071
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota...	ORPHA:99125
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Panaci...	OMIM:613490
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Aprosencephaly, Bifid uvula	OMIM:601374
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Ellis-Van Creveld Syndrome	Atrial septal defect, Common atrium	OMIM:225500
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega...	OMIM:249270
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect	OMIM:616898
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T...	OMIM:611926
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Lipodystrophy, Familial Partial, Type 4	Hypertension, Hypertriglyceridemia	OMIM:613877
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ...	ORPHA:2255
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia	OMIM:177000
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,...	ORPHA:101028
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia	OMIM:614679
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Plin1-Related Familial Partial Lipodystrophy	Hypertension, Hypertriglyceridemia	ORPHA:280356
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Limbal stem cell deficiency	OMIM:615225
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Microhydranencephaly, X-Linked	Holoprosencephaly	OMIM:306990
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Hepatomegaly, Situs inversus totalis	OMIM:619881
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia	OMIM:611884
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect	OMIM:113301
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Hydrocephalus, Abnormal lung lobation, Cleft palate, Abnor...	ORPHA:2166
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
Holoprosencephaly 11	Polysplenia, Holoprosencephaly, Cleft palate	OMIM:614226
Ring Chromosome 21 Syndrome	Holoprosencephaly, Abnormal heart morphology	ORPHA:1445
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Atrial Septal Defect 9	Secundum atrial septal defect, Bicuspid aortic valve	OMIM:614475
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615373
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Galactokinase Deficiency	Cataract, Hepatosplenomegaly, Increased level of galactitol in plasma, Nuclear cataract, Hypergal...	ORPHA:79237
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:1388
Congenital Myopathy 11	Atrial septal defect, Weakness of facial musculature, Patent ductus arteriosus, Patent foramen ovale	OMIM:619967
Holoprosencephaly	Encephalocele, Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve m...	ORPHA:2162
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration	OMIM:618330
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Portal hyp...	OMIM:278000
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Cornea...	OMIM:158310
Meckel Syndrome 14	Occipital encephalocele, Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Holoprosencephaly,...	OMIM:619879
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Distal Monosomy 7Q36	Holoprosencephaly, Cleft palate	ORPHA:1636
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa...	OMIM:619534
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,...	ORPHA:90065
Vissers-Bodmer Syndrome	Holoprosencephaly	OMIM:619033
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Holoprosencephaly,...	OMIM:202650
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon...	OMIM:618845
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Trisomy 18	Ventricular septal defect, Spina bifida, Esophageal atresia, Anencephaly, Cleft palate, Narrow pa...	ORPHA:3380
Lipodystrophy, Familial Partial, Type 1	Hypertension, Hypertriglyceridemia	OMIM:608600
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Formiminoglutamic Aciduria	Atrial septal defect, Anemia, Megaloblastic anemia	ORPHA:51208
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ...	OMIM:619608
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Cog4-Cdg	Hypercholesterolemia, Ataxia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin...	ORPHA:98855
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Mirage Syndrome	Patent ductus arteriosus, Esophageal stricture, Anemia, Leukopenia, Intracranial hemorrhage, Gast...	OMIM:617053
Microphthalmia, Isolated, With Coloboma 5	Holoprosencephaly	OMIM:611638
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Hypertriglyceridemia, Ataxia, Gait ataxia	ORPHA:363400
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Halperin-Birk Syndrome	Pseudobulbar paralysis, Perimembranous ventricular septal defect, High palate, Gastroesophageal r...	OMIM:618651
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Lipodystrophy, Familial Partial, Type 5	Hypertension, Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin...	ORPHA:98853
Gracile Bone Dysplasia	Asplenia, Death in infancy, Hypoplastic spleen, Ankyloglossia	OMIM:602361
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu...	OMIM:612946
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly	OMIM:300706
Griscelli Syndrome Type 1	Hyperlipidemia, Ataxia, Iris hypopigmentation	ORPHA:79476
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula...	ORPHA:567548
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation, Anomal...	ORPHA:1120
Chromosome 3Q13.31 Deletion Syndrome	High palate, Alobar holoprosencephaly	OMIM:615433
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Atrial septal defect	ORPHA:52056
Stormorken Syndrome	Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Anemia, Hypoplastic ...	OMIM:185070
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hydrocephalus, Tracheoes...	ORPHA:77298
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ...	OMIM:612561
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin...	ORPHA:98863
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, Anomalous origin of ri...	OMIM:610338
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Increased LDL cho...	ORPHA:412
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly...	ORPHA:290
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis...	OMIM:616037
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ...	OMIM:616867
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor...	ORPHA:2357
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr...	ORPHA:158048
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal f...	ORPHA:1780
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Bronchiectasis, Dextrocardia	OMIM:618063
Monosomy 18P	Holoprosencephaly, Cleft palate	ORPHA:1598
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia	OMIM:615524
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Inability to walk, Splenomegaly, Decreased LDL cholesterol concentration, Corneal scarring, Athet...	ORPHA:404454
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia	OMIM:619013
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Meckel Syndrome, Type 7	Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ...	OMIM:267010
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Cleft palate, High palate, Pulmonary hypoplasia, Holoprosencephaly	OMIM:612530
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem...	ORPHA:86816
Renpenning Syndrome	Heterotaxy	ORPHA:3242
Neu-Laxova Syndrome 1	Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft palate, Stillbirth, Shor...	OMIM:256520
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts	OMIM:263630
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve	OMIM:617744
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr...	OMIM:280000
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer...	OMIM:603553
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Ataxia, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Ab...	ORPHA:2479
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Pulmonary hypoplasia, Holoprosencephaly, Cleft palate	ORPHA:250999
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hypertension, Hyperuricemia	ORPHA:77296
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia	OMIM:606763
Reni Syndrome	Lymphopenia, Hypoalbuminemia, Ataxia, Hypertriglyceridemia	OMIM:617575
Kid Syndrome	Recurrent cutaneous abscess formation, Keratitis, Corneal erosion, Keratoconjunctivitis sicca, Co...	ORPHA:477
Meckel Syndrome	Encephalocele, Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Situs inv...	ORPHA:564
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles...	OMIM:615947
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent...	OMIM:615444
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect	OMIM:612527
Dohle Bodies And Leukemia	Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia	OMIM:223350
Focal Segmental Glomerulosclerosis 1	Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de...	OMIM:265380
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Cle...	OMIM:610828
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypertension, Hyperuricemia	OMIM:604367
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia	ORPHA:49827
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Microglossia, Holoprosencephaly	ORPHA:990
Arachnoid Cyst	Encephalocele, Hydrocephalus, Holoprosencephaly, Subarachnoid hemorrhage	ORPHA:2356
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct...	OMIM:192350
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus...	OMIM:606003
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Hypercholesterolemia, Dilated cardiomyopathy, Renovascular hypertension	ORPHA:401923
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpus...	ORPHA:90041
Hamel Cerebro-Palato-Cardiac Syndrome	Atrial septal defect, Death in infancy	ORPHA:93946
Faciocardiomelic Syndrome	Common atrium	OMIM:612731
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Orthostatic hypotensio...	ORPHA:66628
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Chylomicron Retention Disease	Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea, Acanthocytosis	ORPHA:71
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Hypercholesterolemia, Hypertrophic cardiomyopathy...	ORPHA:528
Pearson Syndrome	Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytosis, Cardiomy...	ORPHA:699
Ciliary Dyskinesia, Primary, 35	Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis	OMIM:617092
Short Stature-Wormian Bones-Dextrocardia Syndrome	Patent ductus arteriosus, High palate, Dextrocardia, Anal atresia	ORPHA:2863
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:616730
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ...	OMIM:611134
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot	OMIM:300887
Microform Holoprosencephaly	Tetralogy of Fallot, Holoprosencephaly, Cleft palate, Duodenal atresia	ORPHA:280200
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Orthostatic hypotensio...	ORPHA:179494
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate, ...	OMIM:614701
Atelis Syndrome 1	Ventricular septal defect, Thrombocytopenia, Bronchiectasis, Leukopenia, Atrial septal defect, An...	OMIM:620184
Neuhauser Syndrome	Iridodonesis, Ataxia, Hypoplasia of the iris, Hypercholesterolemia, Megalocornea	OMIM:249310
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus...	OMIM:618280
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:618652
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Ataxia, Abnormal granulocyte morphology, Cardiomyopathy, Abnormal circulati...	ORPHA:98907
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cleft palate, Holoprosencephaly, Abnormal cerebral vascular morphology	ORPHA:2165
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor...	OMIM:617478
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Cleft palate, Anteri...	OMIM:146510
Septopreoptic Holoprosencephaly	Anteriorly placed anus, Abnormal midbrain morphology, Hypoplasia of the pons, Ethmoidal encephalo...	ORPHA:280195
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Parachute mitral va...	OMIM:618316
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Alagille Syndrome 2	Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal...	OMIM:610205
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
49,Xxxxy Syndrome	Recurrent respiratory infections, Gastroesophageal reflux, Holoprosencephaly, Cleft palate	ORPHA:96264
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase	OMIM:604484
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral h...	OMIM:175780
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections...	OMIM:619769
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Lambotte Syndrome	Ventricular septal defect, Semilobar holoprosencephaly	OMIM:245552
Smith-Magenis Syndrome	Microcornea, Hypercholesterolemia, Hypertriglyceridemia, Gait disturbance	ORPHA:819
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Klippel-Trénaunay Syndrome	Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Patent d...	ORPHA:90308
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Abnormal lung lobation, Cleft palate, Coarctation of aorta, Abnormal aortic...	ORPHA:1052
Joubert Syndrome 18	Occipital encephalocele, Ventricular septal defect, Cleft palate, Lobulated tongue, Molar tooth s...	OMIM:614815
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Di...	OMIM:614034
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, A...	OMIM:619123
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulmonic stenosis, Atrial ...	OMIM:615355
Cholestasis, Progressive Familial Intrahepatic, 8	Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru...	OMIM:619662
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Cleft palate, Gastroesophageal reflux, Holoprosencephaly, Atrial septa...	ORPHA:261236
Jacobsen Syndrome	Recurrent respiratory infections, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Hol...	OMIM:147791
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Patent foramen ovale	OMIM:617182
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent upper respiratory tract inf...	OMIM:614868
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphalangeal thumb j...	OMIM:613870
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Abnormal lung lobation, Gastroesophageal reflux, Holoprosencephaly,...	OMIM:270400
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Splenomegaly, Congestive heart failure, Hypertension, Hyperuricemia, Hypert...	ORPHA:79083
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopigmentati...	ORPHA:167
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia	OMIM:613027
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Ciliary Dyskinesia, Primary, 18	Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis	OMIM:614874
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, High palate, Holoprosencephaly, Umbilical hernia, Patent foramen ovale	OMIM:613884
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Telangiectasia of the skin	OMIM:615381
Aortic Aneurysm, Familial Thoracic 9	Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse	OMIM:616166
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Patent ductus arteriosus, Flexion contrac...	OMIM:616866
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Simpson-Golabi-Behmel Syndrome, Type 1	Abnormal lung lobation, Atrial septal defect, Hepatoblastoma, Exaggerated median tongue furrow, H...	OMIM:312870
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta	OMIM:615502
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Anemia, Conjunctivitis, Lymphopenia, Thrombocytopenia	OMIM:617591
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Hypertrophic cardiomyopathy, Hypertriglyceridemia, Congestive heart failure	ORPHA:2348
Developmental And Epileptic Encephalopathy 90	Atrial septal defect, Limb hypertonia	OMIM:301058
Timothy Syndrome	Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo...	OMIM:601005
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,...	OMIM:613686
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Abnormal aor...	ORPHA:1166
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts	OMIM:613095
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ...	OMIM:619149
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Restrictive Dermopathy	Dextrocardia, Large placenta, Patent ductus arteriosus, Submucous cleft hard palate, Ascending tu...	ORPHA:1662
Ciliary Dyskinesia, Primary, 1	Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Recurrent bronchitis	OMIM:244400
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocy...	ORPHA:31150
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb...	ORPHA:540
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal...	ORPHA:2041
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia, Iris hypopigmentation	ORPHA:79477
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypertensive crisis, Cataract, Splenomegaly, Hypoplasia of the thymu...	ORPHA:567
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Anencephaly, Cleft palate	OMIM:614120
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Patent foramen ovale, Death in childhood, Hypertrophic cardiomyopathy, Hepatic stea...	OMIM:614582
Johanson-Blizzard Syndrome	Death in infancy, Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anu...	ORPHA:2315
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu...	ORPHA:980
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Holoprosencephaly 14	Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v...	OMIM:619895
Autism Spectrum Disorder Due To Auts2 Deficiency	Abnormal heart morphology, Congenital contracture, Joint contracture of the 5th finger, Atrial se...	ORPHA:352490
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Ventricular septal defect, Hamartoma of tongue, Patent ductus arteriosus...	OMIM:615948
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Asplenia,...	ORPHA:99776
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Megalencephaly	Atrial septal defect	ORPHA:2477
Glycogen Storage Disease Iii	Cardiomyopathy, Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Hepatomegaly, Patent ductus arteriosus, Atrial septal defect, H...	ORPHA:1842
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Patent ductus arteriosus, Abn...	ORPHA:818
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Carnitine Palmitoyl Transferase 1A Deficiency	Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Lethargy, Hypertrophic cardiomyopathy	ORPHA:156
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI	ORPHA:166024
Meckel Syndrome 13	Molar tooth sign on MRI, Occipital encephalocele	OMIM:617562
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia	OMIM:618067
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Chime Syndrome	Ventricular septal defect, Tetralogy of Fallot, Acute leukemia, Transposition of the great arteri...	ORPHA:3474
Temple-Baraitser Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:611816
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Dilated cardiomyopathy	OMIM:618348
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Descendi...	ORPHA:91387
Prune Belly Syndrome	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hy...	ORPHA:2970
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en...	ORPHA:264580
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta...	OMIM:600987
Transketolase Deficiency	Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu...	ORPHA:488618
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Charge Syndrome	Atrial septal defect, Anal stenosis, Overriding aorta, Ventricular septal defect, Secundum atrial...	OMIM:214800
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Normochro...	OMIM:610198
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Pulmonic stenosis	OMIM:619239
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Hydrocephalus, Tracheoesophageal...	OMIM:107480
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Patent ductus arteriosus	OMIM:241310
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Pulmonary embolism, Perianal abscess, Hyperlipidemia, Hepatosplenomegaly, I...	ORPHA:444490
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Pulmonary hypopla...	ORPHA:1335
Warburg-Cinotti Syndrome	Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Corneal neovascularizatio...	OMIM:618175
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve...	ORPHA:1880
Diets-Jongmans Syndrome	Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect	OMIM:618846
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Pulm...	ORPHA:2257
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Aspiration ...	OMIM:619167
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent duc...	OMIM:614576
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Cataract	OMIM:277700
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Congestive heart failure, Dilated ...	OMIM:203800
Lymphatic Malformation 7	Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Anemia...	OMIM:617300
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect	ORPHA:2516
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Bronchiectasis, Pulmonic ste...	OMIM:618282
Steinfeld Syndrome	Absent gallbladder, Abnormal heart morphology, Holoprosencephaly, Bifid uvula, Median cleft lip a...	OMIM:184705
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor, Megaloblastic anemia	OMIM:243320
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart	OMIM:618142
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes...	ORPHA:275761
Lipodystrophy, Familial Partial, Type 6	Hypertension, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating crea...	OMIM:615980
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-like lysosomal...	OMIM:208085
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Liver abscess, Hypertension	ORPHA:69663
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, High, narrow palate, Patent ductus arteriosus, Narrow palat...	OMIM:614976
Frontoocular Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:605321
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Hyperlipidemia	ORPHA:2089
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperchol...	ORPHA:79240
20P12.3 Microdeletion Syndrome	Atrial septal defect	ORPHA:261295
Cat Eye Syndrome	Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis...	OMIM:115470
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Semilobar holoprosencephaly, High palate, Holoprosencephaly, Pancreatic aplasia	ORPHA:556955
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Submucous cleft ha...	OMIM:301043
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Patent ductus arteriosus, Tracheo...	OMIM:277380
Joubert Syndrome 16	Encephalocele, Molar tooth sign on MRI	OMIM:614465
Seizures-Scoliosis-Macrocephaly Syndrome	Atrial septal defect	ORPHA:466926
3C Syndrome	Death in infancy, Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral va...	ORPHA:7
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri...	OMIM:612098
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral reg...	ORPHA:363618
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Holoprosencephaly-Craniosynostosis Syndrome	Holoprosencephaly	ORPHA:2163
Al-Raqad Syndrome	Atrial septal defect	OMIM:616459
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Even-Plus Syndrome	Atrial septal defect, Patent foramen ovale	OMIM:616854
Waardenburg Syndrome Type 3	Atrial septal defect, Atelectasis, Camptodactyly of finger	ORPHA:896
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Coarctation of aorta, Normochromic anemia, Neutropenia, Atrial septal d...	OMIM:614857
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Permanent ...	ORPHA:31825
Abruzzo-Erickson Syndrome	Atrial septal defect	ORPHA:921
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati...	OMIM:613327
Joubert Syndrome 32	Molar tooth sign on MRI, Hypertrophic cardiomyopathy	OMIM:617757
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary infections, Patent duc...	OMIM:617303
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super...	OMIM:618494
Congenital Heart Block	Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural effusion, Pat...	ORPHA:60041
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl...	OMIM:608149
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Joubert Syndrome 7	Encephalocele, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia	OMIM:611560
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer...	OMIM:618500
Coffin-Siris Syndrome 5	Atrial septal defect	OMIM:616938
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Beta-Mercaptolactate Cysteine Disulfiduria	Atrial septal defect	ORPHA:1035
Endocrine-Cerebroosteodysplasia	Hydrocephalus, Holoprosencephaly, Median cleft palate	OMIM:612651
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ...	ORPHA:2363
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:615668
Poland Syndrome	Dextrocardia	OMIM:173800
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbiliru...	ORPHA:90674
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Death in infancy, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial sept...	OMIM:620070
Solitary Median Maxillary Central Incisor	Holoprosencephaly	OMIM:147250
H Syndrome	Hypertriglyceridemia, Microcytic anemia, Abnormal cardiovascular system physiology, Hepatosplenom...	ORPHA:168569
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal cardiovascular system physiology, Cardiomyopathy, Hypertension, Ab...	ORPHA:79086
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Abnormal aortic morphology	ORPHA:3222
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
17Q12 Microduplication Syndrome	Atrial septal defect	ORPHA:261272
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Ventricular septal defect, Mitral atresia, Portal hypertension, Cleft soft pala...	OMIM:619503
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect	ORPHA:96190
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating creatine kinase concentration, Hyperammonemia, Transient hyperlipidemia, Let...	OMIM:255120
Joubert Syndrome 10	Molar tooth sign on MRI	OMIM:300804
Thanatophoric Dysplasia	Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia	ORPHA:2655
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph...	OMIM:164280
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo...	OMIM:610978
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p...	ORPHA:95430
Joubert Syndrome 4	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe...	OMIM:609583
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventricular conducti...	ORPHA:280365
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:75389
Suleiman-El-Hattab Syndrome	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent foramen...	OMIM:618950
Potocki-Lupski Syndrome	Atrial septal defect, Patent foramen ovale	OMIM:610883
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Decreased muscle mass, Facial hypotonia	ORPHA:500533
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ...	ORPHA:500159
White Forelock With Malformations	Atrial septal defect	ORPHA:2475
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Lobulated tongue	OMIM:617127
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Endocardial fibroelastosis	OMIM:276822
Charge Syndrome	Aortic arch aneurysm, Aqueductal stenosis, Abnormal soft palate morphology, Patent ductus arterio...	ORPHA:138
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Patent foramen ovale	OMIM:615156
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Microglossia, Abnormal lung lobation, Cleft ...	ORPHA:672
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect	OMIM:619356
Zechi-Ceide Syndrome	Atrial septal defect, Abnormal heart morphology	ORPHA:217017
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hypertension	OMIM:151660
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate, Hypoplasia of...	OMIM:614424
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly	OMIM:601370
Schuurs-Hoeijmakers Syndrome	Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort...	OMIM:615009
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Decreased circulating copper concen...	OMIM:300972
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Marden-Walker Syndrome	Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, Hi...	OMIM:248700
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect	ORPHA:521308
Seckel Syndrome 10	Hypertension, Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure	OMIM:617253
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Gastroesophageal reflux,...	ORPHA:261197
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Patent foramen ovale	ORPHA:88630
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Aortic dissection	OMIM:135580
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida, Myelomeningocele, Tracheoesophageal fistula, High palate, Pulmonary h...	ORPHA:2437
Joubert Syndrome 9	Encephalocele, Molar tooth sign on MRI	OMIM:612285
Tetrasomy 15Q26	Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch	OMIM:614846
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Tetralogy of Fallot, Holoprosencephaly	ORPHA:3186
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Bardet-Biedl Syndrome 17	Situs inversus totalis, Dextrocardia	OMIM:615994
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa...	OMIM:602782
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Hypomimic face	OMIM:608572
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Pulmonary ...	OMIM:613426
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Chronic neutropenia, Epistaxis, Hyperlipidemia, Xanthelasma, Hypertension, ...	ORPHA:79259
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Cholestasis, Coarctation of aorta, Portal fibrosis, Pulmonic steno...	OMIM:614300
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Hyperlipidemia	ORPHA:369
Syndromic Diarrhea	Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Hepatoblastoma, Incr...	ORPHA:84064
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture	OMIM:603387
16P12.1P12.3 Triplication Syndrome	Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal intrahepatic bile duct morpho...	ORPHA:485405
Coffin-Siris Syndrome 6	Atrial septal defect	OMIM:617808
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Cholelithiasis, Patent ductus arteriosus, Double outlet right ventricle	OMIM:614886
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P...	OMIM:612541
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect	OMIM:611087
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H...	ORPHA:227990
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta	ORPHA:1923
Joubert Syndrome 25	Molar tooth sign on MRI	OMIM:616781
Rhizomelic Limb Shortening With Dysmorphic Features	Patent foramen ovale	OMIM:618821
Acrocardiofacial Syndrome	Death in infancy, Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal...	ORPHA:2008
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Atrial septal defect, Hyposegmentation of neutrophil nuclei, Patent foramen ovale	OMIM:620075
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Pleur...	OMIM:617397
Joubert Syndrome 3	Atrial septal defect, Elongated superior cerebellar peduncle, Molar tooth sign on MRI	OMIM:608629
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Microtriplication 11Q24.1	Keratoconus, Hyperlipidemia	ORPHA:289522
Lujan-Fryns Syndrome	Atrial septal defect	ORPHA:776
Sweeney-Cox Syndrome	Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, High palate, Gastroesophageal r...	OMIM:617746
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi...	ORPHA:2538
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:301039
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Iron deficiency anemia, Abnormality of the liver, Lymphocytosis, Neutrope...	ORPHA:1667
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula...	OMIM:614294
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Coarctation of aorta	OMIM:618929
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo...	OMIM:121050
Emanuel Syndrome	Recurrent respiratory infections, Truncus arteriosus, Ventricular septal defect, Patent ductus ar...	OMIM:609029
Microtia	Holoprosencephaly	ORPHA:83463
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Splenomegaly, Hyperlipidemia, Portal hypertension	ORPHA:1414
Slc35A2-Cdg	Atrophy/Degeneration affecting the brainstem, Tetralogy of Fallot, Abnormal midbrain morphology, ...	ORPHA:356961
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly, Cleft palate, Molar tooth sign on MRI, Bifid uvula	OMIM:614175
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H...	ORPHA:227982
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Death in infancy, Patent ductus arteriosus, Recurrent respiratory infections	ORPHA:1790
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve	OMIM:619721
Congenital Tracheal Stenosis	Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo...	ORPHA:141127
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Cleft palate, H...	OMIM:616546
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart	ORPHA:2001
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Lim...	OMIM:620327
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Astigmatism	OMIM:619471
Holoprosencephaly 3	Bifid uvula, Holoprosencephaly, Cleft palate	OMIM:142945
Seckel Syndrome 9	Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pul...	OMIM:616777
Stevenson-Carey Syndrome	Atrial septal defect, Left superior vena cava draining to coronary sinus	OMIM:611961
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Bone marrow hypocellularity, Neutropenia, Atrial septal defect, Patent...	OMIM:609053
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Snijders Blok-Campeau Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:618205
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:618870
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H...	OMIM:235400
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Autoimmune thrombocytopeni...	ORPHA:77293
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P...	OMIM:612582
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ...	OMIM:269200
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Facial hypotonia	OMIM:614526
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ...	ORPHA:2306
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua...	ORPHA:70
Trisomy 13	Atrial septal defect, Abnormal lung lobation, Patent ductus arteriosus, Ventricular septal defect	ORPHA:3378
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype...	OMIM:615474
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri...	OMIM:612562
Coach Syndrome 2	Molar tooth sign on MRI, Hydrocephalus	OMIM:619111
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Joubert Syndrome 39	Molar tooth sign on MRI, Occipital encephalocele, Hypoplastic left heart	OMIM:619562
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Ring Chromosome 7 Syndrome	Situs inversus totalis, Cleft palate, Holoprosencephaly, Median cleft palate, Bifid uvula	ORPHA:1449
Buratti-Harel Syndrome	Atrial septal defect, Dilation of Virchow-Robin spaces, Recurrent pneumonia	OMIM:619314
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:617159
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Hepatomegaly	OMIM:619383
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At...	ORPHA:371428
Pseudo-Torch Syndrome 1	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, Patent foramen ovale, Thrombocyto...	OMIM:251290
Knobloch Syndrome	Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Lymphangioma	ORPHA:1571
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri...	OMIM:605275
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect	OMIM:618354
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect	OMIM:619115
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia	OMIM:145420
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial effusion, Jaundice, Dilated cardi...	ORPHA:26793
Alagille Syndrome 1	Posterior embryotoxon, Hypertriglyceridemia, Cataract, Band keratopathy, Microcornea, Axenfeld an...	OMIM:118450
Joubert Syndrome 31	Molar tooth sign on MRI	OMIM:617761
Noonan Syndrome 10	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coarctation of aorta,...	OMIM:616564
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Transient ischemic attack, Thrombocytopenia, Hyperlipidemia, Congestive heart fa...	ORPHA:1830
Noonan Syndrome 5	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:611553
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Dextrocardia, Hydrocephalus, Cleft palate, Molar tooth sign...	ORPHA:220493
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb...	ORPHA:363444
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy...	OMIM:300963
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Hypertension, Recurrent corneal erosions, Opacification of the corneal stroma, Corneal...	OMIM:308205
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J...	ORPHA:35909
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholelithiasis	OMIM:240300
Genitourinary And/Or Brain Malformation Syndrome	Jejunal atresia, Holoprosencephaly, Ileal atresia	OMIM:618820
Holoprosencephaly 4	Median cleft lip and palate, Semilobar holoprosencephaly	OMIM:142946
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Atrial septal defect, Contracture of the proximal interphalangeal ...	OMIM:618109
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Patent ductus arteriosus, Myeloid leukemia, Aortic root aneurysm	ORPHA:404443
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Cataract, Dysmetria, Gait ataxia, Developmental ca...	OMIM:606721
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, High, narrow palate, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladd...	ORPHA:96092
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Patent foramen ovale, Mitral valve prolapse	OMIM:615539
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Lymphedema	OMIM:607131
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis	OMIM:617660
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus...	ORPHA:2637
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Partial anomalous pulmonary venous return, Cleft palate, Gastroesophag...	OMIM:301044
Glycerol Kinase Deficiency	Lethargy, Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Intestinal malrotation, Malformation of the hepatic du...	OMIM:249000
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Alazami Syndrome	Atrial septal defect	ORPHA:319671
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor...	ORPHA:435638
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Emanuel Syndrome	Recurrent respiratory infections, Truncus arteriosus, Ventricular septal defect, Patent ductus ar...	ORPHA:96170
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2519
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Ventricular septal defect	OMIM:617452
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Congestive heart failure, Cardiomyopathy, Abnormal circulating creatine kin...	ORPHA:98908
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Hypertriglyceridemia, Hypercalcemia, Astigmatism	ORPHA:369837
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Megarectum, Leukopenia, P...	OMIM:301056
Thanatophoric Dysplasia Type 1	Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs	ORPHA:1860
Mosaic Trisomy 16	Ventricular septal defect, Patent ductus arteriosus, Abnormal lung morphology, Coarctation of aor...	ORPHA:1708
Distal Triplication 15Q	Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Pulmonary hypoplasi...	ORPHA:314588
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Duodenal atresia, Lobar holoprosencephaly	ORPHA:468631
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di...	OMIM:612863
Lymphatic Malformation 6	Splenomegaly, Varicose veins, Pleural effusion, Chylothorax, Atrial septal defect, Intestinal lym...	OMIM:616843
Fanconi Anemia, Complementation Group Q	Biliary atresia, Bone marrow hypocellularity, Primum atrial septal defect	OMIM:615272
Tarp Syndrome	Atrial septal defect, Tetralogy of Fallot, Subdural hemorrhage, Neonatal death	OMIM:311900
Holoprosencephaly 9	Hydrocephalus, Cleft palate, Bilateral cleft lip and palate, Holoprosencephaly, Short hard palate	OMIM:610829
Noonan Syndrome 7	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613706
Fanconi Anemia, Complementation Group F	Pneumonia, Thrombocytopenia, Patent ductus arteriosus, Leukopenia, Bone marrow hypocellularity, A...	OMIM:603467
Joubert Syndrome 28	Molar tooth sign on MRI	OMIM:617121
Noonan Syndrome 4	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	OMIM:610733
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Recurrent lower respiratory tract infections, Patent ductus arteriosus, Neu...	OMIM:618005
8P11.2 Deletion Syndrome	Hemolytic anemia, Splenomegaly, Patent ductus arteriosus, Spherocytosis, Mitral valve prolapse, A...	ORPHA:251066
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Atrial septal defect, Patent ductus arteriosus, Hepatosplenomegaly	ORPHA:397709
Classical-Like Ehlers-Danlos Syndrome Type 2	Keratoconjunctivitis sicca, Hypertriglyceridemia, Astigmatism	ORPHA:536532
Holoprosencephaly 2	Median cleft lip and palate, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cle...	OMIM:157170
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart...	ORPHA:457279
Proboscis Lateralis	High palate, Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly	ORPHA:141099
Lymphatic Malformation 13	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Neonatal death	OMIM:620244
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:369891
Alagille Syndrome	Hepatomegaly, Ventricular septal defect, Cholestasis, Reduced number of intrahepatic bile ducts, ...	ORPHA:52
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
20Q13.33 Microdeletion Syndrome	Atrial septal defect, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of...	ORPHA:261311
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:505237
Mandibulofacial Dysostosis-Microcephaly Syndrome	Atrial septal defect	ORPHA:79113
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph...	ORPHA:79330
Chromosome 18Q Deletion Syndrome	Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Pate...	OMIM:601808
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Recombinant 8 Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def...	ORPHA:96167
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar...	ORPHA:90291
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Death in infancy, Vascular dilatation, Atelectasis, Recurrent pneumonia, Hypopl...	OMIM:613177
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Secundum atrial septal defect, Recurrent lower respiratory tract infections	OMIM:620194
Intellectual Developmental Disorder, Autosomal Recessive 72	Secundum atrial septal defect	OMIM:618665
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula...	OMIM:613001
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Repeated pneumothoraces, Coarctation of aorta, Aortic root aneurysm, A...	OMIM:617602
Shashi-Pena Syndrome	Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces	OMIM:617190
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Distal Duplication 5Q	Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Bdv Syndrome	Atrial septal defect	OMIM:619326
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Acute leukemia	ORPHA:281090
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr...	OMIM:620024
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Brain-Lung-Thyroid Syndrome	Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon...	ORPHA:209905
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Joubert Syndrome 2	Encephalocele, Brainstem dysplasia, Hydrocephalus, Hypoplasia of the brainstem, High palate, Mola...	OMIM:608091
Al Kaissi Syndrome	Atrial septal defect	OMIM:617694
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef...	OMIM:235510
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su...	OMIM:618164
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Patent ductus arteriosus, T lymphocytopenia, Abnormal B cell morphology, P...	OMIM:618223
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Incre...	ORPHA:391665
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Cleft pala...	ORPHA:2369
Distal Xq28 Microduplication Syndrome	Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foramen ovale	ORPHA:293939
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Atrial septal defect, Mitral valve prolapse	OMIM:300986
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Thrombocytopenia, Abnormal pupil morpholo...	ORPHA:534
19P13.12 Microdeletion Syndrome	Atrial septal defect, Hepatic steatosis, Ventricular septal defect	ORPHA:254346
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve	OMIM:619720
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Patent ductus arteriosus	OMIM:602482
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Splenomegaly, Polysplenia, Anemia	OMIM:619418
Joubert Syndrome 22	Molar tooth sign on MRI	OMIM:615665
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	OMIM:244300
Joubert Syndrome 30	Molar tooth sign on MRI	OMIM:617622
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Thrombocytopenia, Patent ductus arteriosus, Abnormal heart morp...	ORPHA:505248
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta, Subvalvular aortic steno...	OMIM:614114
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Polyhydramnios, Cleft palate, Volvulus	ORPHA:314621
Chops Syndrome	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret...	OMIM:616368
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Patent ductus arteriosus, Mitral val...	OMIM:609942
Joubert Syndrome 35	Molar tooth sign on MRI, Elongated superior cerebellar peduncle	OMIM:618161
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Peripheral pulmonary artery stenosis	OMIM:614749
7Q31 Microdeletion Syndrome	Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus after birth at term	ORPHA:251061
Cardiac-Valvular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec...	ORPHA:230851
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Cervical lymphadenopathy, ...	ORPHA:2331
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia...	ORPHA:565612
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art...	OMIM:609192
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Vasculitis, Decreased mean platelet volume...	OMIM:617718
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Atrial septal defect, Aortic valve stenosis	ORPHA:459061
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Recurrent respiratory infections, Absence of Stensen duct, Xerostomia, Cleft palate, Rectovaginal...	OMIM:129900
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Dilated c...	ORPHA:2326
Hartsfield Syndrome	Semilobar holoprosencephaly, Lobar holoprosencephaly, Cleft palate, Alobar holoprosencephaly	OMIM:615465
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Noonan Syndrome 13	Atrial septal defect, Mitral valve prolapse	OMIM:619087
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Recurrent pneumonia, Ventricular septal defect	OMIM:616449
Contractures-Developmental Delay-Pierre Robin Syndrome	Atrial septal defect, Peripheral pulmonary artery stenosis	ORPHA:436003
Fetal Alcohol Syndrome	Atrial septal defect	ORPHA:1915
Joubert Syndrome 6	Molar tooth sign on MRI, Hypoplasia of the brainstem, Thickened superior cerebellar peduncle, Elo...	OMIM:610688
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Bicuspid aortic valve, Spontaneous pneumothorax, Arterial tortuosity, Desce...	OMIM:610168
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Abnormal mitral valve morphology	ORPHA:1292
Aica-Ribosuria Due To Atic Deficiency	Secundum atrial septal defect	OMIM:608688
Sotos Syndrome	Ventricular septal defect, Patent ductus arteriosus, Muscular ventricular septal defect, Prolonge...	OMIM:117550
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Molar tooth sign on MRI	ORPHA:220497
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Submucous clef...	ORPHA:2461
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Esophageal varix, Molar tooth sign on MRI	OMIM:216360
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Holoprosencephaly	ORPHA:1587
Intellectual Disability-Strabismus Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:363528
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,...	ORPHA:391487
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect	OMIM:309520
Adult Krabbe Disease	Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology	ORPHA:206448
Joubert Syndrome 37	Molar tooth sign on MRI, High palate	OMIM:619185
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se...	OMIM:300998
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Chromosome 9P Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric...	OMIM:158170
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Aganglionic megacolon, Molar tooth sign on MRI	ORPHA:2318
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect, Macroglossia	ORPHA:93947
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Atrial septal defect, Patent foramen ovale	OMIM:619184
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
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Patent foramen ovale, Pulmonic stenosis	OMIM:618914
Heart Block, Congenital	Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node	OMIM:234700
Constricting Bands, Congenital	Encephalocele, Ectopia cordis, Abnormal lung lobation, Cleft palate	OMIM:217100
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
17Q23.1Q23.2 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:261279
Kabuki Syndrome 2	Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:300867
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Patent foramen ovale	ORPHA:542306
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A...	ORPHA:324
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect	OMIM:617360
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Double out...	ORPHA:163956
Isolated Exencephaly	Holoprosencephaly	ORPHA:563612
Joubert Syndrome 1	Brainstem dysplasia, Protruding tongue, Occipital myelomeningocele, Macroglossia, Hypoplasia of t...	OMIM:213300
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Death in infancy, Hepatomegaly, Ventricular septal defect, Splen...	OMIM:614866
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Secundum atrial septal defect	OMIM:620242
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Hepatomegaly, Secundum atrial septal defect, Splenomegaly, Jaundice, Perimembra...	OMIM:608779
Wiedemann-Steiner Syndrome	Atrial septal defect, Patent ductus arteriosus	OMIM:605130
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Patent ductus ...	OMIM:620005
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Anomalous pulmonary venous return,...	ORPHA:99104
Genitopatellar Syndrome	Hip contracture, Knee flexion contracture, Pulmonary hypoplasia, Atrial septal defect, Arthrogryp...	ORPHA:85201
Brachytelephalangic Chondrodysplasia Punctata	Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du...	ORPHA:79345
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort...	OMIM:617506
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect	OMIM:620183
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Ascending tubular ao...	ORPHA:453499
Zaki Syndrome	Patent ductus arteriosus, Patent foramen ovale	OMIM:619648
Orofaciodigital Syndrome Vi	Hamartoma of tongue, Cleft palate, Lobulated tongue, High palate, Hypoplastic left heart, Molar t...	OMIM:277170
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect	ORPHA:2728
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect, Recurrent respiratory infections	OMIM:619758
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Abnormal midbrain morphology, Hypoplasia of the pons, Mitral valve pro...	ORPHA:444072
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Patent foramen ovale	OMIM:619179
Diamond-Blackfan Anemia	Acute myeloid leukemia, Radial artery aplasia, Ventricular septal defect, Pure red cell aplasia, ...	ORPHA:124
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Hypertrophic cardiomyopathy	OMIM:619121
Joubert Syndrome 8	Molar tooth sign on MRI, Occipital encephalocele	OMIM:612291
Congenital Disorder Of Glycosylation, Type Ig	Patent ductus arteriosus, Recurrent upper respiratory tract infections, Patent foramen ovale, Rec...	OMIM:607143
Chromosome 10Q26 Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus	OMIM:609625
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Hepatomegaly, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hype...	OMIM:610505
Pagod Syndrome	Situs inversus totalis, Pulmonary artery hypoplasia, Abnormal aortic morphology, Hypoplastic left...	ORPHA:991
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Right atrial enlargement	OMIM:615219
Opitz Gbbb Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Persistent left s...	ORPHA:2745
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosi...	ORPHA:79456
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Lipodystrophy, Congenital Generalized, Type 2	Splenomegaly, Hypertrophic cardiomyopathy, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:269700
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect, Leukemia, Dilation of Virchow-Robin spaces	OMIM:619951
White-Sutton Syndrome	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:616364
Coffin-Siris Syndrome	Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Recurrent upper respiratory ...	ORPHA:1465
Lipodystrophy, Congenital Generalized, Type 1	Splenomegaly, Hypertriglyceridemia, Cardiomyopathy	OMIM:608594
Lethal Kniest-Like Dysplasia	Atrial septal defect	ORPHA:2347
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea...	OMIM:100300
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis	ORPHA:86843
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Ventricular septal defect, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Pa...	OMIM:274000
Fg Syndrome Type 1	Atrial septal defect, Coarctation of aorta, Mitral valve prolapse	ORPHA:93932
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Patent ductus arteriosus, Annular pancreas	OMIM:618162
Vici Syndrome	Recurrent respiratory infections, Lymphopenia, Dilated cardiomyopathy, Decreased proportion of CD...	OMIM:242840
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect, Thrombocytopenia	ORPHA:457351
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Recurrent pneumonia, Left superior vena cava draining to coronary sinu...	ORPHA:464738
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,...	OMIM:610443
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Hamartoma of tongue, Patent ductus arteriosus, Cleft palate, Lobulated tongue, Sti...	OMIM:616300
Alg9-Cdg	Hepatomegaly, Ventricular septal defect, Pericardial effusion, Abnormal lung lobation, Abnormal h...	ORPHA:79328
Mandibuloacral Dysplasia Progeroid Syndrome	Tricuspid regurgitation, Mitral regurgitation, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Japanese Encephalitis	Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnormal pons morphology, Cer...	ORPHA:79139
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
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Bohring-Opitz Syndrome	Atrial septal defect, Ventricular septal defect, Hyperechogenic pancreas	OMIM:605039
Tarp Syndrome	Extramedullary hematopoiesis, Pulmonary hypoplasia, Atrial septal defect, Tetralogy of Fallot, Pe...	ORPHA:2886
Holoprosencephaly 1	Median cleft lip and palate, Ethmocephaly, Single ventricle, Alobar holoprosencephaly	OMIM:236100
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen...	ORPHA:1600
Orofaciodigital Syndrome Type 6	Hamartoma of tongue, Cleft palate, Abnormal heart morphology, Lobulated tongue, High palate, Mola...	ORPHA:2754
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus	OMIM:300968
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
Tetrasomy 9P	Absent gallbladder, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Jaundice, B...	ORPHA:3310
Distal 22Q11.2 Microdeletion Syndrome	Recurrent respiratory infections, Ventricular septal defect, Atrial septal defect, Truncus arteri...	ORPHA:261330
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch,...	OMIM:300712
Loeys-Dietz Syndrome 5	Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec...	OMIM:615582
Distal Deletion 10Q	Atrial septal defect, Patent ductus arteriosus	ORPHA:96148
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve...	OMIM:619472
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnorma...	ORPHA:68
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Fryns Syndrome	Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Abnormal aortic morphology, ...	ORPHA:2059
Pancreatic And Cerebellar Agenesis	Death in infancy, Secundum atrial septal defect, Pancreatic hypoplasia, Anemia, Pancreatic aplasia	OMIM:609069
Neurooculorenal Syndrome	Dextrocardia, Intestinal malrotation, Mitral valve prolapse, Anteriorly placed anus, Tetralogy of...	OMIM:620305
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:614609
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,...	OMIM:175050
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Atrial septal defect	OMIM:614207
Cranioectodermal Dysplasia 2	Hepatomegaly, Cholangitis, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Biliary c...	OMIM:613610
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Intrac...	ORPHA:163979
Autosomal Recessive Robinow Syndrome	Death in infancy, Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary...	ORPHA:1507
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P...	OMIM:300707
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Coarctation of aorta, Gl...	OMIM:616145
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia	OMIM:614080
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Thrombocytopenia, Anemia	ORPHA:261323
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Abnormal heart valve morphology, Abnormality of the gallbladder...	ORPHA:280
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Flexion contracture, Camptodactyly	OMIM:207410
Hamamy Syndrome	Atrial septal defect, Complete atrioventricular canal defect, Hypochromic anemia, Microcytic anemia	OMIM:611174
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Cardiofaciocutaneous Syndrome 1	Atrial septal defect, Splenomegaly, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:115150
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Molar tooth sign on MRI, Hypoplasia of the brainstem, Ventricular septal defect	OMIM:619306
Glycogen Storage Disease Ib	Splenomegaly, Hyperlipidemia, Xanthelasma, Hypertension, Hyperuricemia, Neutropenia	OMIM:232220
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Tay-Sachs Disease	Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia	ORPHA:845
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Mucolipidosis Type Ii	Recurrent respiratory infections, Abnormal mitral valve morphology, Splenomegaly, Hepatosplenomeg...	ORPHA:576
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Pulmonary hypoplasia, Atrial se...	OMIM:263520
Glycogen Storage Disease Ic	Cyclic neutropenia, Spider hemangioma, Hyperlipidemia, Xanthelasma, Hypertension, Hyperuricemia, ...	OMIM:232240
Fibrochondrogenesis 1	Stillbirth, Patent foramen ovale	OMIM:228520
Oculoectodermal Syndrome	Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:600268
Parenteral Nutrition-Associated Cholestasis	Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circul...	ORPHA:567983
Alg12-Cdg	Recurrent respiratory infections, Recurrent pharyngitis, Muscular ventricular septal defect, Pate...	ORPHA:79324
Oligomeganephronia	Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad...	ORPHA:512
Juvenile Polyposis Of Infancy	Refractory anemia, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect, Anemia	ORPHA:79076
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Death in childhood, Atrial septal defect, Tetr...	OMIM:309500
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Meier-Gorlin Syndrome 7	Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary hypoplasia, Atrial s...	OMIM:617063
Fryns Syndrome	Ectopic pancreatic tissue, Ventricular septal defect, Stillbirth, Chylothorax, Pulmonary hypoplas...	OMIM:229850
Atypical Werner Syndrome	Hypertriglyceridemia, Telangiectasia of the skin, Congestive heart failure, Developmental catarac...	ORPHA:79474
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, High palate, Umbil...	ORPHA:536545
Eisenmenger Syndrome	Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia,...	ORPHA:97214
Combined Pituitary Hormone Deficiencies, Genetic Forms	Holoprosencephaly, Median cleft lip and palate	ORPHA:95494
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy	OMIM:309801
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Hyper...	ORPHA:189427
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Patent foramen ovale, Recur...	ORPHA:280633
Neurocardiofaciodigital Syndrome	Atrial septal defect, Double inlet left ventricle, Patent ductus arteriosus, Tetralogy of Fallot	OMIM:619869
Cardiofaciocutaneous Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten...	ORPHA:1340
Tetraamelia Syndrome 1	Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia, Anal atresia	OMIM:273395
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:244450
Mosaic Variegated Aneuploidy Syndrome 1	Atrial septal defect, Leukemia, Pulmonic stenosis	OMIM:257300
Phace Syndrome	Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root...	ORPHA:42775
Duane-Radial Ray Syndrome	Atrial septal defect, Ventricular septal defect, Vascular dilatation	OMIM:607323
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Hamartoma of tongue	OMIM:617563
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Patent ductus arteriosus, Anemia, Leukopenia, Abnorma...	ORPHA:84
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Recurrent respiratory infections, Hepatic steatosis, Hepatomegaly, Patent ductus arteriosus, Coar...	ORPHA:17
Ramos-Arroyo Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:1051
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Wiedemann-Rautenstrauch Syndrome	Cataract, Hypertriglyceridemia, Hypoplasia of the thymus, Truncal ataxia	OMIM:264090
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Submu...	OMIM:300166
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Pneumothorax, Ascending tubular aorta aneurysm, Atrial septal defect, Hy...	OMIM:617403
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Marshall-Smith Syndrome	Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections...	OMIM:602535
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Molar tooth sign on MRI, Occipital encephalocele, Elongated superior cerebellar peduncle, Meningo...	ORPHA:397715
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery at...	OMIM:616894
Rubinstein-Taybi Syndrome 1	Accessory spleen, Ventricular septal defect, Respiratory tract infection, Patent ductus arteriosu...	OMIM:180849
Magel2-Related Prader-Willi-Like Syndrome	Atrial septal defect, Recurrent respiratory infections	ORPHA:398069
Hypothyroidism, Congenital, Nongoitrous, 5	Patent foramen ovale	OMIM:225250
Kikuchi-Fujimoto Disease	Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Myocarditis, Vasculi...	ORPHA:50918
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Atrial septal defect, Aortic root aneurysm	OMIM:618891
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Hepatomegaly, Microvesicular hepatic steatosis, Patent ductus arteriosus, Cirrh...	OMIM:300868
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Eosinophilia, Lymphocytosis, Cardiac arrest	ORPHA:139402
Fontaine Progeroid Syndrome	Atrial septal defect, Prominent superficial veins, Death in infancy, Bicuspid aortic valve, Paten...	OMIM:612289
Distal Deletion 6P	Atrial septal defect	ORPHA:96125
Ring Chromosome 12 Syndrome	Secundum atrial septal defect	ORPHA:1439
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hypertension, Hyperuricemia	OMIM:232200
Simpson-Golabi-Behmel Syndrome	Death in infancy, Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Splenomegaly, Cardiomy...	ORPHA:373
Khan-Khan-Katsanis Syndrome	Patent ductus arteriosus after premature birth, Bilateral superior vena cava with no bridging vei...	OMIM:618460
Pseudoaminopterin Syndrome	Asplenia, High palate, Patent foramen ovale	ORPHA:221120
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis,...	ORPHA:96121
3Mc Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:257920
Degcags Syndrome	Hepatomegaly, Pancytopenia, Ventricular septal defect, Pneumonia, Congenital hypoplastic anemia, ...	OMIM:619488
Wiedemann-Rautenstrauch Syndrome	Cataract, Hypertriglyceridemia, Ataxia, Corneal opacity, Pulmonic stenosis, Truncal ataxia	ORPHA:3455
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Cataract	ORPHA:90153
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:251014
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Atrial sep...	ORPHA:3047
Spondyloocular Syndrome	Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve	OMIM:605822
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism	ORPHA:567546
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Abnormal heart valve morphology, Ascending tubular aorta aneurysm, Pulmona...	ORPHA:536471
Rabson-Mendenhall Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:769
Poland Syndrome	Encephalocele, Dextrocardia, Acute leukemia, Abnormality of the liver, Atrial septal defect, Spin...	ORPHA:2911
Bent Bone Dysplasia Syndrome 2	Atrial septal defect, Hepatomegaly	OMIM:620076
Arima Syndrome	Brainstem dysplasia, Esophageal varix, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occi...	OMIM:243910
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:607721
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At...	ORPHA:97360
Cutis Laxa, Autosomal Recessive, Type Iic	Prominent superficial veins, Pneumothorax, Mitral valve prolapse, Biventricular hypertrophy, Atri...	OMIM:617402
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Doors Syndrome	Narrow palate, Cleft palate, Sirenomelia, High palate, Gastroesophageal reflux, Aspiration pneumo...	ORPHA:79500
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Recurrent sinusitis	OMIM:213980
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Ventricular septal defect, Muscular ventricular septal defect, Coarctation of a...	OMIM:210710
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Pa...	ORPHA:353281
Gabriele-De Vries Syndrome	Patent foramen ovale, Aortopulmonary collateral arteries	OMIM:617557
Joubert Syndrome 5	Molar tooth sign on MRI, Occipital encephalocele, Thickened superior cerebellar peduncle, Cleft p...	OMIM:610188
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Pa...	OMIM:163950
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intraventricu...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intraventricu...	ORPHA:363958
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap...	ORPHA:2396
Larsen Syndrome	Atrial septal defect, Ventricular septal defect, Aortic aneurysm	OMIM:150250
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Mucopolysaccharidosis Type 2	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Recurrent upper respiratory...	ORPHA:580
Osteopathia Striata With Cranial Sclerosis	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:300373
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
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Recurrent respiratory infections, Aplasia of the thymus, Prolonged neonatal jaundice, Atrial sept...	OMIM:620186
Restrictive Dermopathy 1	Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia, Neonatal death, Atrial septal defect	OMIM:275210
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Atrial septal defect	ORPHA:522077
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ...	OMIM:139210
Floating-Harbor Syndrome	Celiac disease, Coarctation of aorta, Atrial septal defect, Umbilical hernia, Mesocardia, Persist...	OMIM:136140
Wilson Disease	Edema, Esophageal varix, Pedal edema, Face of the giant panda sign, Ascites	OMIM:277900
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve, Abno...	ORPHA:466791
Arboleda-Tham Syndrome	Recurrent respiratory infections, Ventricular septal defect, Secundum atrial septal defect, Paten...	OMIM:616268
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Anomalous origin of l...	ORPHA:438213
Costello Syndrome	Ventricular septal defect, Pneumothorax, Mitral valve prolapse, Pulmonic stenosis, Atrial septal ...	OMIM:218040
Zttk Syndrome	Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Patent ductus arteriosus...	OMIM:617140
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Pleural effusion, Chylothorax, Leukemia	ORPHA:2526
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Atrial septal defect, Dilation of Virchow-Robin spaces	OMIM:619512
Omodysplasia 1	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	OMIM:258315
Floating-Harbor Syndrome	Celiac disease, Tetralogy of Fallot, Coarctation of aorta, Gastroesophageal reflux, Atrial septal...	ORPHA:2044
Johanson-Blizzard Syndrome	Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Intrahepati...	OMIM:243800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Miscarriage, Hepatoblastoma, Pulmonary artery stenosis, ...	ORPHA:96334
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:613458
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl...	OMIM:157800
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Recurrent upper respiratory...	ORPHA:217085
2Q37 Microdeletion Syndrome	Abnormal aortic morphology	ORPHA:1001
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Atrial septal defect,...	ORPHA:904
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Recurrent upper respiratory...	ORPHA:217093
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Elliptocytosis, Patent ductus arteriosus, Patent foramen ovale, Anemia	OMIM:300990
Alobar Holoprosencephaly	Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes...	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes...	ORPHA:93924
Semilobar Holoprosencephaly	Hydrocephalus, Cleft palate, Abnormal heart morphology, Neural tube defect, High palate, Gastroes...	ORPHA:220386
Turnpenny-Fry Syndrome	Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valv...	OMIM:618371
Schinzel-Giedion Midface Retraction Syndrome	Atrial septal defect, Splenopancreatic fusion, Hepatoblastoma	OMIM:269150
Helsmoortel-Van Der Aa Syndrome	Atrial septal defect, Recurrent respiratory infections, Mitral valve prolapse, Abnormal heart mor...	OMIM:615873
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A...	ORPHA:363700
Oculodentodigital Dysplasia	Atrial septal defect	OMIM:164200
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art...	OMIM:607872
Penile Agenesis	Atrial septal defect, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia	ORPHA:49
Alport Syndrome	Renal glomerular foam cells, Recurrent bronchitis, Aortic aneurysm, Abnormal aortic morphology	ORPHA:63
Ctcf-Related Neurodevelopmental Disorder	Patent ductus arteriosus, Coarctation of aorta, Prolonged neonatal jaundice, Atrial septal defect...	ORPHA:363611
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Pa...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Pa...	ORPHA:353277
Mowat-Wilson Syndrome	Bicuspid aortic valve, Pulmonary artery sling, Aganglionic megacolon, Asplenia, Pyloric stenosis,...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Aganglionic m...	ORPHA:261537
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula...	ORPHA:459070
Woodhouse-Sakati Syndrome	Choreoathetosis, Abnormal T-wave, Hyperlipidemia	OMIM:241080
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Atrial septal defect, Total anomalous pulmonary venous return	OMIM:609945
Turner Syndrome Due To Structural X Chromosome Anomalies	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Biliary cirrhosis, Coarctation ...	ORPHA:99413
Mosaic Monosomy X	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Biliary cirrhosis, Coarctation ...	ORPHA:99228
Monosomy X	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Biliary cirrhosis, Coarctation ...	ORPHA:99226
Turner Syndrome	Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Biliary cirrhosis, Coarctation ...	ORPHA:881
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Patent foramen ovale, Arteria lusoria	OMIM:618653
Cerebrocostomandibular Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:117650
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic root aneur...	ORPHA:444077
Orofaciodigital Syndrome Type 14	Ventricular septal defect, Hamartoma of tongue, Patent ductus arteriosus, Aplasia of the epiglott...	ORPHA:434179
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve	OMIM:271640
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv...	ORPHA:261552
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Atrial septal defect, Pneumothorax, Tricuspid valve prolapse, Mitral valve prolapse	OMIM:601776
Frontometaphyseal Dysplasia 2	Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis	OMIM:617137
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Patent ductus arteriosus...	ORPHA:500150
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Renal artery stenosis, Atrial septal def...	ORPHA:3472
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste...	OMIM:235730
Diphallia	Atrial septal defect, Abnormal heart morphology	ORPHA:227
Kabuki Syndrome 1	Hemolytic anemia, Ventricular septal defect, Autoimmune thrombocytopenia, Coarctation of aorta, A...	OMIM:147920
Neurofibromatosis-Noonan Syndrome	Secundum atrial septal defect, Pulmonic stenosis	OMIM:601321
Joubert Syndrome 38	Molar tooth sign on MRI	OMIM:619476
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos...	OMIM:194050
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis	OMIM:250220
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Woodhouse-Sakati Syndrome	Choreoathetosis, Abnormal T-wave, Hyperlipidemia	ORPHA:3464
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Atrial sep...	OMIM:135900
Wolf-Hirschhorn Syndrome	Atrial septal defect, Ventricular septal defect, Biliary tract abnormality, Accessory spleen	OMIM:194190
Alström Syndrome	Hypertriglyceridemia, Ataxia, Cataract, Portal hypertension, Splenomegaly, Hyperlipidemia, Conges...	ORPHA:64
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve	OMIM:613355
Igg4-Related Kidney Disease	Pericarditis, Abnormal lung morphology, Interstitial pneumonitis, Abnormal aortic morphology, Art...	ORPHA:449395
Aromatase Deficiency	Hyperlipidemia	ORPHA:91
Townes-Brocks Syndrome	Abnormal pulmonary valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology...	ORPHA:857
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Patent ductus arteriosus, Biliary tract abnormality,...	OMIM:268300
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Celiac disease, Abnormal midbrain morphology	ORPHA:293987
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect	OMIM:300896
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiomyopathy, Atrial septal defect, R...	ORPHA:480880
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI	OMIM:619479
Genitopatellar Syndrome	Hip contracture, Ventricular septal defect, Knee flexion contracture, Pulmonary hypoplasia, Atria...	OMIM:606170
Otopalatodigital Syndrome, Type Ii	Atrial septal defect, Stillbirth, Dilatation of the sinus of Valsalva	OMIM:304120
Sotos Syndrome	Ventricular septal defect, Small cell lung carcinoma, Patent ductus arteriosus, Abnormal heart mo...	ORPHA:821
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619522
Peters-Plus Syndrome	Ventricular septal defect, Bilobate gallbladder, Patent ductus arteriosus, Biliary tract abnormal...	OMIM:261540
Cornelia De Lange Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:199
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Secundum atrial septal defect, Lymphangioma, Subarterial ventricular septal defect, Recurrent pne...	ORPHA:99646
Pallister-Killian Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Stillbirth, Aortic val...	OMIM:601803

Histopathology

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

There is no histopathology data for Nodal

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 Nodal.

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

Order Mouse and ES Cells

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
Nodal^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Nodal^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Nodal^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Nodal^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Nodal MGI:97359

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Adult LacZ

Human diseases caused by Nodal mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data