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Gene: Vcan MGI:102889

Gene Summary

Name:

versican

Synonyms:

DPEAAE, PG-M, 5430420N07Rik, Cspg2, hdf, heart defect

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal heart looping	Vcan^em2(IMPC)Mbp	HOM	E9.5	0.00
abnormal heart morphology	Vcan^em2(IMPC)Mbp	HOM	E9.5	0.00
abnormal heart morphology	Vcan^em2(IMPC)Mbp	HET	E9.5	0.00
abnormal placenta morphology	Vcan^em2(IMPC)Mbp	HET	E15.5	0.00
microphthalmia	Vcan^em2(IMPC)Mbp	HET	E15.5	0.00
abnormal spleen morphology	Vcan^em2(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Vcan^em2(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitelline vasculature morphology	Vcan^em2(IMPC)Mbp	HOM	E9.5	0.00
embryonic growth retardation	Vcan^em2(IMPC)Mbp	HOM	E9.5	0.00
abnormal visceral yolk sac morphology	Vcan^em2(IMPC)Mbp	HOM	E9.5	0.00
persistence of hyaloid vascular system	Vcan^em2(IMPC)Mbp	HET	Early adult	5.23×10^-08
abnormal embryo turning	Vcan^em2(IMPC)Mbp	HOM	E9.5	0.00
abnormal eye morphology	Vcan^em2(IMPC)Mbp	HET	Early adult	0.00
abnormal somite shape	Vcan^em2(IMPC)Mbp	HOM	E9.5	0.00
decreased locomotor activity	Vcan^em2(IMPC)Mbp	HET	Early adult	3.98×10^-05
abnormal optic vesicle formation	Vcan^em2(IMPC)Mbp	HOM	E9.5	0.00
enlarged spleen	Vcan^em2(IMPC)Mbp	HET	Early adult	0.00
abnormal neural tube morphology	Vcan^em2(IMPC)Mbp	HOM	E9.5	0.00
abnormal pharyngeal arch morphology	Vcan^em2(IMPC)Mbp	HOM	E9.5	0.00
prenatal lethality prior to heart atrial septation	Vcan^em2(IMPC)Mbp	HOM	E15.5	0.00
eye hemorrhage	Vcan^em2(IMPC)Mbp	HET	Early adult	5.45×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

MicroCT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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Human diseases caused by Vcan 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 Vcan (1 diseases)
Human diseases predicted to be associated with Vcan (1283 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Wagner Vitreoretinopathy		Peripheral tractional retinal detachment, Retinal pigment epithelial atrophy, Optic atrophy	OMIM:143200

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

Disease	Matching phenotypes	Source
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance	ORPHA:2274
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Tricuspid Atresia	Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar...	ORPHA:1209
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Vitreou...	OMIM:312700
Lambert Syndrome	Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Isolated Right Ventricular Hypoplasia	Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right vent...	ORPHA:439
Retinopathy Of Prematurity	Vitreous hemorrhage, Tractional retinal detachment	ORPHA:90050
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Congenital Heart Block	Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he...	ORPHA:60041
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao...	OMIM:615779
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ...	ORPHA:860
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s...	OMIM:619897
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Eng-Strom Syndrome	Intrauterine growth retardation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
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 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Adams-Oliver Syndrome 4	Atrial septal defect, Microphthalmia, Umbilical hernia, Ventricular septal defect	OMIM:615297
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Thrombocytopenia, Pancreatic cys...	ORPHA:464329
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Peroxisome Biogenesis Disorder 8A (Zellweger)	Death in infancy, Jaundice, Ventricular septal defect	OMIM:614876
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul...	ORPHA:1461
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:231393
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Cardiomyopathy, Familial Restrictive, 3	Restrictive cardiomyopathy, Myocardial sarcomeric disarray, Right atrial enlargement	OMIM:612422
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Verheij Syndrome	Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Coloboma, Int...	OMIM:615583
Gray Platelet Syndrome	Abnormal bleeding, Epistaxis, Splenomegaly, Bruising susceptibility, Thrombocytopenia	ORPHA:721
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect, Death in childhood	OMIM:253300
Nanophthalmos	Microphthalmia	ORPHA:35612
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Myofiber disarray, Dilate...	OMIM:619424
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Nanophthalmos 4	Microphthalmia	OMIM:615972
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph...	ORPHA:1354
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Mmep Syndrome	Microphthalmia, Ventricular septal defect	ORPHA:3434
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Cyanosis, Congestive heart failure, Chylopericardium, Pulmonic stenosis,...	ORPHA:2414
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Intrauterine growth retardation, Congestive heart failure	OMIM:301021
Retinal Capillary Malformation	Vitreous hemorrhage, Hyphema	ORPHA:71213
Vitreoretinopathy, Neovascular Inflammatory	Retinal detachment, Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal...	OMIM:193235
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Congenital Tricuspid Valve Dysplasia	Cyanosis, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous...	ORPHA:555874
Sandhoff Disease	Splenomegaly, Congestive heart failure, Ataxia, Hepatomegaly	ORPHA:796
X-Linked Mandibulofacial Dysostosis	Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology	ORPHA:1131
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract...	OMIM:614096
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Cyanosis, Left-to-right shunt, Abnormally loud pulm...	ORPHA:99104
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Intraut...	OMIM:616276
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I...	ORPHA:99827
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium	OMIM:615524
Microcephaly-Cardiomyopathy Syndrome	Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Perching Syndrome	Cyanosis	OMIM:617055
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Congenital Bile Acid Synthesis Defect Type 1	Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice, Biliary tra...	ORPHA:79301
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir...	OMIM:602390
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Short stature	OMIM:609166
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy	OMIM:607685
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode	OMIM:610992
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U...	ORPHA:2585
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Cor pulmonale	OMIM:263000
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Alpha-Thalassemia-Myelodysplastic Syndrome	Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept...	ORPHA:231401
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus ar...	ORPHA:3427
Xk Aprosencephaly Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	ORPHA:3469
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez...	OMIM:617718
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric...	ORPHA:444013
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Death in childhood	OMIM:613759
Adams-Oliver Syndrome 5	Right atrial enlargement, Pulmonic stenosis, Umbilical hernia, Patent foramen ovale, Right ventri...	OMIM:616028
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Cardiomyopathy, Familial Hypertrophic, 26	Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement	OMIM:617047
Grange Syndrome	Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi...	ORPHA:88
Ventricular Septal Defect 3	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas...	OMIM:619313
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ...	OMIM:616749
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage, Gait disturbance	ORPHA:88619
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Cardiac Valvular Dysplasia 1	Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Tricuspid regur...	OMIM:212093
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology	OMIM:601612
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocyto...	OMIM:612840
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Double Outlet Right Ventricle	Tachycardia, Cyanosis, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hy...	ORPHA:3426
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,...	OMIM:617478
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Familial Isolated Restrictive Cardiomyopathy	Hypertrophic cardiomyopathy, Interstitial cardiac fibrosis, Left atrial enlargement, Right atrial...	ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ...	OMIM:115197
Breath-Holding Spells	Cyanosis	OMIM:607578
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Exudative Vitreoretinopathy 4	Vitreous hemorrhage, Tractional retinal detachment	OMIM:601813
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Pulmonary Arteriovenous Malformation	Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangiectas...	ORPHA:2038
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran...	ORPHA:40923
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Congenital Fibrinogen Deficiency	Tachycardia, Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Internal hemorrhage...	ORPHA:335
Buerger Disease	Vasculitis, Acrocyanosis	ORPHA:36258
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Acquired Methemoglobinemia	Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Lujo Hemorrhagic Fever	Shock, Excessive bleeding after a venipuncture, Myocarditis, Fulminant hepatitis, Leukocytosis, S...	ORPHA:319213
Hemochromatosis, Type 2B	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis...	OMIM:613313
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Neuralgic Amyotrophy	Acrocyanosis	ORPHA:2901
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Cardiomyopathy, Choreoathetosis, Neutropenia, ...	ORPHA:79312
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Asbestos Intoxication	Cyanosis, Right ventricular failure, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Hepatojugular...	ORPHA:2302
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Cyanosis, Ventricular septal defect, Left-to-right shunt, Congestive heart failure, Patent ductus...	ORPHA:99050
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:616719
Macular Degeneration, Age-Related, 1	Geographic atrophy, Macular degeneration, Macular hemorrhage	OMIM:603075
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST...	OMIM:261740
Marburg Hemorrhagic Fever	Leukopenia, Lethargy, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Ret...	ORPHA:99826
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Ventricular septal defect	OMIM:613730
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Splenomegaly, Loss of ambulation, Thrombocytopenia	OMIM:615010
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension	ORPHA:70587
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Cyanosis, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestiv...	ORPHA:980
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis	OMIM:612126
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cyanosis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Do...	ORPHA:3304
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary leak, Intra...	ORPHA:340
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Splenomegaly, Letha...	ORPHA:99745
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Rhegmatogenous retinal detachment, Vitreous hemorrhage, Abnormal optic di...	ORPHA:891
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia ...	ORPHA:75564
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Severe postnatal growth retardation	ORPHA:435938
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Short stature	ORPHA:50815
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Angina pectoris, Lymphadenopathy	ORPHA:79292
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Retinal nonattachment, Hyphema, Iris coloboma	OMIM:221900
Vitreoretinochoroidopathy	Retinal detachment, Vitreous hemorrhage, Pigmentary retinopathy, Retinal neovascularization	OMIM:193220
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	ORPHA:231736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi...	ORPHA:49827
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Sea-Blue Histiocytosis	Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h...	ORPHA:158029
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Optic disc pallor, Petechiae, Splenomegaly, Optic atrophy, Anemia,...	OMIM:611490
Exudative Vitreoretinopathy 1	Retinal detachment, Vitreous hemorrhage, Retinal neovascularization	OMIM:133780
Leptospirosis	Hepatomegaly, Pericarditis, Papilledema, First degree atrioventricular block, Jaundice, Retinal h...	ORPHA:509
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Primary Pulmonary Hypoplasia	Cyanosis, Dextrocardia, Secundum atrial septal defect, Hypoxemia, Intrauterine growth retardation	ORPHA:2257
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Amyloidosis, Familial Visceral	Splenomegaly, Hypertension, Cholestasis, Hepatomegaly	OMIM:105200
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar...	ORPHA:97214
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	ORPHA:3449
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura	OMIM:620296
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Microphthalmia, Tetralogy of Fallot, Ventricular hypertrophy	OMIM:300887
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperpl...	ORPHA:64743
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Patent ductus arteriosus, Right atrial enlargement, Bicuspid aortic valve, Mitral valve prolapse	ORPHA:555877
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia	OMIM:613885
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Holoprosencephaly	Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc...	ORPHA:2162
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Macular atrophy, Hypersplenism, Thrombocytopenia, Splenome...	OMIM:230800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation	OMIM:615616
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Cyanosis, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, M...	ORPHA:2326
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Ataxia, Epistaxis, Abnormality of n...	ORPHA:33226
Uveal Melanoma	Retinal detachment, Vitreous hemorrhage	ORPHA:39044
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Joubert Syndrome 33	Splenomegaly, Ataxia	OMIM:617767
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom...	OMIM:139090
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Cutis marmorata, Portal hypertension, Truncus...	OMIM:616589
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect	OMIM:263630
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stom...	OMIM:153670
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu...	ORPHA:3226
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port...	ORPHA:824
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphthalmia, Patent foramen ovale	OMIM:618652
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Heart murmur, Abnormal heart morphology	ORPHA:1867
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Juvenile Xanthogranuloma	Hyphema, Myeloproliferative disorder	ORPHA:158000
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Thrombocytopenia, Dysmetria, Supravalvar pulmonary steno...	OMIM:620185
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Retinal c...	ORPHA:790
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly	ORPHA:391428
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal...	ORPHA:86839
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Cyanosis, Ventricular septal defect, Tachycardia,...	ORPHA:137675
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Cirrhotic Cardiomyopathy	Left ventricular hypertrophy, Right atrial enlargement, Left atrial enlargement, Cardiomegaly	ORPHA:57777
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia	ORPHA:37748
High Altitude Pulmonary Edema	Hypoxemia, Tachycardia, Cyanosis	ORPHA:330012
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Oligomeganephronia	Branchial cyst, Secundum atrial septal defect, Optic disc coloboma	ORPHA:2260
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Cyanosis, Ventricular septal defect, Abnormal heart valve morp...	ORPHA:3384
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal death, Pulmonary arterial hypertension, Cyanosis, Death in infancy	OMIM:265120
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia	OMIM:231000
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Supravalvular aortic stenosis	OMIM:618624
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries	OMIM:231060
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Cofs Syndrome	Microphthalmia	ORPHA:1466
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Congenital Toxoplasmosis	Microphthalmia, Cardiomegaly	ORPHA:858
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m...	ORPHA:352665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Cardiomyopathy	OMIM:613155
Pulmonary Capillary Hemangiomatosis	Cyanosis, Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hypoxemia...	ORPHA:199241
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect	OMIM:613870
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pericardium morphology, Myocardial...	ORPHA:183
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Patent ductus arteriosus, Ventricular septal defect, Sinus bradycardia	OMIM:126320
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, ...	ORPHA:261330
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia	OMIM:249270
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Hereditary Methemoglobinemia	Cyanosis	ORPHA:621
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Pal...	OMIM:615355
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos	OMIM:619318
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni...	ORPHA:79477
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Neonatal Lupus Erythematosus	Abnormal bleeding, Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Aplastic anemia, Pancyt...	ORPHA:398124
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Central Retinal Vein Occlusion	Papilledema, Intraretinal hemorrhage, Macular degeneration, Pigmentary retinopathy, Retinal neova...	ORPHA:411527
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension, Cyanosis, Hypoxemia	ORPHA:79126
Autosomal Dominant Coarctation Of Aorta	Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Bor Syndrome	Branchial cyst	ORPHA:107
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Right atrial enlargement	OMIM:615219
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Ventricular septal defect	OMIM:602501
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia	ORPHA:261272
Congenital Rubella Syndrome	Ventricular septal defect, Jaundice, Patent ductus arteriosus, Atrial septal defect, Intrauterine...	ORPHA:290
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula	OMIM:113650
Fetal Trimethadione Syndrome	Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin...	ORPHA:1913
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke	OMIM:611773
Familial Drusen	Abnormality of retinal pigmentation, Macular atrophy, Reticular pigmentary degeneration, Granular...	ORPHA:75376
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Cyanotic episode	ORPHA:284417
Hadziselimovic Syndrome	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect	OMIM:612946
Waardenburg Syndrome Type 3	Atrial septal defect, Acrocyanosis	ORPHA:896
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy	OMIM:618805
Leishmaniasis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, ...	ORPHA:507
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage	ORPHA:49566
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Atrial septal defect, Microph...	OMIM:611134
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Ventricular septal defect	ORPHA:93267
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Endocardial fibroelastosis	OMIM:276822
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Myelofibrosis	Splenomegaly, Myeloproliferative disorder, Purpura	OMIM:254450
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,...	OMIM:211600
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Restrictive Dermopathy 2	Intrauterine growth retardation, Cyanosis	OMIM:619793
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Death in childhood, Intraut...	OMIM:612938
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Hydr...	ORPHA:261337
Meacham Syndrome	Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a...	OMIM:608978
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Mediastinal lymphadenopathy, Splenome...	ORPHA:91138
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thr...	ORPHA:85212
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Tetralogy of Fallot, Anterior basal encephalocele	OMIM:136760
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Atrioventricular block, Bradycardia	OMIM:614407
Pierpont Syndrome	Microphthalmia	OMIM:602342
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirrhosis, Punctate vasculitis skin...	OMIM:192315
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph...	OMIM:308240
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Prolonge...	OMIM:613812
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Hartsfield Syndrome	Encephalocele, Microphthalmia	ORPHA:2117
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Congestive heart failure, Tachycardia, Autoimmune hemolytic anemia	ORPHA:90037
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Essential Thrombocythemia	Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal...	ORPHA:3318
Griscelli Syndrome	Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa...	ORPHA:381
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Atrial septal defec...	OMIM:618142
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit...	ORPHA:131
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Aicardi-Goutieres Syndrome 1	Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Scrub Typhus	Abnormal bleeding, Myocarditis, Splenomegaly, Lymphadenopathy, Hypotension, Lethargy	ORPHA:83317
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis	ORPHA:3191
Meckel Syndrome 14	Tricuspid regurgitation, Mitral regurgitation, Cyanosis, Single ventricle	OMIM:619879
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Bicuspid ...	ORPHA:363705
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Umbilical hernia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale	OMIM:618914
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect	ORPHA:2516
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Congenital Tracheomalacia	Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu...	ORPHA:95430
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Filippi Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:272440
Scimitar Syndrome	Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges...	ORPHA:185
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Second degre...	OMIM:617021
Lambotte Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:245552
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Wilson Disease	Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Cirrhosis, Difficulty walking,...	ORPHA:905
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
14Q24.1Q24.3 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:401935
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Coach Syndrome 1	Hepatomegaly, Optic disc pallor, Ataxia, Portal hypertension, Abnormal abdomen morphology, Spleno...	OMIM:216360
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis	ORPHA:98913
Aase-Smith Syndrome I	Death in infancy, Ventricular septal defect	OMIM:147800
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Jaundice, Di...	ORPHA:26793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Atrial sep...	OMIM:601927
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Right atrial enlargement, Mitral valve prolapse	OMIM:620233
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Short stature, Optic disc coloboma, Atrial septal defect, Intrauteri...	OMIM:620186
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
8Q24.3 Microdeletion Syndrome	Branchial cyst, Infancy onset short-trunk short stature, Ventricular septal defect, Short stature...	ORPHA:508488
Tyshchenko Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect	ORPHA:1166
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Microphthalmia, Paten...	OMIM:618494
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy	OMIM:619053
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect	ORPHA:85194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v...	ORPHA:1457
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Familial Idiopathic Dilatation Of The Right Atrium	Right atrial enlargement, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly	ORPHA:1677
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypotension, Atrial septal defect, Patent fo...	OMIM:615668
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Cholesteryl Ester Storage Disease	Hepatomegaly, Portal hypertension, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Tetrasomy 5P	Congestive heart failure, Cyanosis, Pulmonary arterial hypertension, Heart murmur	ORPHA:3309
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Warsaw Breakage Syndrome	Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Cutis marmorata	OMIM:613398
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly	ORPHA:466950
Joubert Syndrome 18	Intrauterine growth retardation, Ventricular septal defect	OMIM:614815
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis	ORPHA:1302
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Patent ductus arteriosus, Iris coloboma	ORPHA:861
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra...	OMIM:618775
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia...	OMIM:214500
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Roifman Syndrome	Noncompaction cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation	OMIM:616651
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventric...	OMIM:619909
Sepsis In Premature Infants	Tachycardia, Cyanosis, Jaundice, Bradycardia, Hypotension, Petechiae, Purpura	ORPHA:90051
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Trisomy 13	Anophthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Mi...	ORPHA:3378
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia...	ORPHA:822
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Jaundice, Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Prematurely aged appearance, Ventricular septal defect, Progeroid facial ap...	OMIM:123700
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Macular de...	OMIM:177850
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Transaldolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Intrau...	OMIM:606003
Retinoblastoma	Retinal calcification, Vitreous hemorrhage, Leukemia	OMIM:180200
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Woods Syndrome	Ventricular septal defect	OMIM:615236
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Cyanosis, Atrial fibrillation, Congestive heart failur...	ORPHA:31826
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Jaundice, Chron...	ORPHA:90033
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Microphthalmia, Syndromic 9	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Neonatal death, Pul...	OMIM:601186
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Patent ductus arteriosus, Ventricular septal defect	ORPHA:452
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
3C Syndrome	Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid...	ORPHA:7
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ...	OMIM:120200
Sandestig-Stefanova Syndrome	Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect	OMIM:618804
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Phacoanaphylactic Uveitis	Tractional retinal detachment, Hyphema, Retinal arteritis	ORPHA:209959
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:500159
Surfactant Metabolism Dysfunction, Pulmonary, 3	Hypoxemia, Death in infancy, Cyanosis, Neonatal death	OMIM:610921
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Intrauterine growth retardation, Ventricular septal defect, Bicuspid ao...	OMIM:617751
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in infancy, Ventricular septal defect, Death in childhood	OMIM:616901
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Right atrial enlargement	OMIM:614008
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Ascites, G...	ORPHA:77259
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Ventricular septal defect, Jaundice, Atrial septal defect, Patent foramen ovale...	OMIM:208085
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect	OMIM:620210
Intellectual Developmental Disorder, Autosomal Dominant 47	Intrauterine growth retardation, Ventricular septal defect	OMIM:617635
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Meckel Syndrome, Type 2	Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul...	ORPHA:309854
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Atrial septal defect, Microphthalmia, Patent f...	OMIM:609053
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect...	OMIM:618316
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Prolonged prothrombin time, Hepatic bridging f...	OMIM:618641
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive...	OMIM:187300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Ventricular septal defect	ORPHA:77298
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Bilateral microphthalmos, Abnormal heart morphology, Umbilical hernia,...	ORPHA:369891
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia, Cardiomyopathy	ORPHA:370959
Familial Thrombocytosis	Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegal...	ORPHA:71493
Methimazole Embryofetopathy	Intrauterine growth retardation, Ventricular septal defect	ORPHA:1923
Fucosidosis	Acrocyanosis, Vascular skin abnormality, Cardiomegaly	ORPHA:349
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Congestive heart failu...	OMIM:615512
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Cat Eye Syndrome	Ventricular septal defect, Umbilical hernia, Hypoplastic left heart, Total anomalous pulmonary ve...	OMIM:115470
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Spider hemangioma, Splen...	ORPHA:2137
Chiari Malformation Type Ii	Cyanosis	OMIM:207950
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
Serkal Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	ORPHA:75389
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac...	OMIM:610655
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:610338
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect	OMIM:615879
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Kapur-Toriello Syndrome	Microphthalmia, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Myocardial infarction, Intracranial hemorrhage, Generalized ...	ORPHA:740
Niemann-Pick Disease, Type C1	Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Gait ataxia, Sea-blue ...	OMIM:257220
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:235555
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis, Bicuspid aortic valve	OMIM:243310
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Mitral regurgitation, Ventricular septal defect	OMIM:301039
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Intr...	OMIM:614576
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Mitral regurgitation, Ventricular septal defect	OMIM:603387
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect	ORPHA:2256
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Intr...	ORPHA:254346
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly	ORPHA:2189
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, A...	OMIM:264480
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defec...	OMIM:618870
Keutel Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:85202
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Periventricular Nodular Heterotopia 7	Ventricular septal defect	OMIM:617201
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve...	OMIM:619657
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def...	OMIM:613001
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Isolated Klippel-Feil Syndrome	Ventricular septal defect	ORPHA:2345
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
19P13.3 Microduplication Syndrome	Intrauterine growth retardation, Ventricular septal defect, Pulmonary arterial hypertension	ORPHA:447980
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve...	OMIM:600987
Pyruvate Dehydrogenase E1-Alpha Deficiency	Intrauterine growth retardation, Ventricular septal defect	ORPHA:79243
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:608572
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria...	OMIM:609029
Tarp Syndrome	Atrial septal defect, Intrauterine growth retardation, Tetralogy of Fallot, Cyanosis	ORPHA:2886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ...	OMIM:253800
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral...	OMIM:612582
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leukoc...	OMIM:615688
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular dilatation, Right atrial enlargement	ORPHA:70591
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Acrocardiofacial Syndrome	Death in infancy, Ventricular septal defect, Mitral stenosis, Atrial septal defect, Intrauterine ...	ORPHA:2008
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiome...	OMIM:616897
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Ventricular septal defect, Atrial septal defect, Intrauterin...	OMIM:270450
3P25.3 Microdeletion Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonic stenosis	ORPHA:435638
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Mitr...	OMIM:616564
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Primary Hyperoxaluria	Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermitten...	ORPHA:416
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Prune Belly Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2970
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:617452
Noonan Syndrome 4	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	OMIM:610733
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At...	ORPHA:477817
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Hypertension, Per...	OMIM:263200
Donnai-Barrow Syndrome	Ventricular septal defect	ORPHA:2143
Joubert Syndrome 14	Encephalocele, Microphthalmia, Meningocele, Ventricular septal defect	OMIM:614424
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
22Q11.2 Duplication Syndrome	Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea...	ORPHA:1727
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate...	OMIM:270100
Rift Valley Fever	Abnormal bleeding, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Hepatitis, Melena...	ORPHA:319251
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Transketolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:488618
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Erythema, Retinal hemorrhage, Hypertension, Bradycardia, ...	OMIM:614653
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis	OMIM:619580
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept...	ORPHA:2519
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia	ORPHA:1915
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:1352
Rodrigues Blindness	Microphthalmia	OMIM:268320
Glutaryl-Coa Dehydrogenase Deficiency	Athetosis, Subdural hemorrhage, Retinal hemorrhage, Ataxia	ORPHA:25
Oculofaciocardiodental Syndrome	Microphthalmia, Abnormal cardiac septum morphology, Mitral valve prolapse	ORPHA:2712
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619769
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia	ORPHA:228390
Ritscher-Schinzel Syndrome 3	Microphthalmia, Atrioventricular canal defect	OMIM:619135
King-Denborough Syndrome	Ventricular septal defect	OMIM:619542
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect, Oxygen desaturation on exertion, Hypoxemia	OMIM:610978
Refsum Disease	Microphthalmia, Cardiomyopathy	ORPHA:773
Monosomy 18P	Microphthalmia	ORPHA:1598
Heart And Brain Malformation Syndrome	Microphthalmia, Ventricular septal defect	OMIM:616920
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Hypertrophic cardiomyopathy, Cyanosis, Concentric hypertrophic cardiomyopathy	OMIM:252010
Branchiooculofacial Syndrome	Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Retinal colo...	OMIM:113620
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Unilateral Polymicrogyria	Cyanosis, Epistaxis, Abnormal heart morphology	ORPHA:268943
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	ORPHA:505237
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Pulmonary Alveolar Microlithiasis	Mitral valve calcification, Cyanosis, Right ventricular failure, Increased pulmonary vascular res...	ORPHA:60025
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ...	ORPHA:3097
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Death in infancy, Ventricular septal defect, Hematochezia, Death in childhood, Intrauterine growt...	OMIM:243150
Cockayne Syndrome Type 3	Hepatomegaly, Optic disc pallor, Retinal atrophy, Splenomegaly, Unsteady gait, Subdural hemorrhag...	ORPHA:90324
Kagami-Ogata Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Pul...	OMIM:608149
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal ...	ORPHA:1908
Ogden Syndrome	Cardiogenic shock, Arrhythmia, Ventricular septal defect	ORPHA:276432
Temtamy Syndrome	Microphthalmia	OMIM:218340
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu...	OMIM:601808
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Erythema, Vasculiti...	ORPHA:221
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Diamond-Blackfan Anemia 7	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Intrauterine ...	OMIM:612562
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Spina bifida, Endocardi...	ORPHA:99776
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Alagille Syndrome	Telangiectasia of the skin, Ventricular septal defect, Hypertension, Atrial septal defect, Intrau...	ORPHA:52
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria...	ORPHA:96170
Congenital Myasthenic Syndrome	Cyanosis	ORPHA:590
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Abnormal left ventricular function, Pulmonic stenosis, Intrauterine gr...	OMIM:301056
Presynaptic Congenital Myasthenic Syndromes	Cyanosis	ORPHA:98914
Fanconi Anemia, Complementation Group B	Intrauterine growth retardation, Patent ductus arteriosus, Ventricular septal defect, Death in in...	OMIM:300514
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Asplenia, Inability to walk, Optic atrophy, Hyphema, Retinal coloboma, Pulmonic...	ORPHA:261552
Filippi Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:3255
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis	ORPHA:747
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Adams-Oliver Syndrome	Encephalocele, Microphthalmia, Tetralogy of Fallot, Abnormal pulmonary valve morphology	ORPHA:974
Moebius Syndrome	Microphthalmia	OMIM:157900
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Abnormal heart morphology	OMIM:618571
Choanal Atresia	Cyanosis	ORPHA:137914
Marden-Walker Syndrome	Microphthalmia, Dextrocardia	OMIM:248700
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse...	OMIM:121050
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Congenital Tracheal Stenosis	Patent ductus arteriosus, Ventricular septal defect, Cyanosis, Hypoplastic left heart	ORPHA:141127
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Hypertrophi...	OMIM:605275
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Microphthalmia	ORPHA:2728
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect, Cyanosis	ORPHA:1199
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia, Ventricular septal defect	ORPHA:251038
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:616449
Diabetic Embryopathy	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	ORPHA:1926
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Intrauterine growth retardation, Ventricular septal defect, Heart murmur	ORPHA:166035
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Severe intrauterine growth retardation, Subvalvu...	OMIM:614114
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos...	OMIM:210250
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Pulmonary arterial hypertension, Cyanosis	OMIM:610913
Kapur-Toriello Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:244300
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte...	OMIM:600001
Hyperoxaluria, Primary, Type I	Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent cla...	OMIM:259900
Granulomatosis With Polyangiitis	Retinal hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage	OMIM:608710
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Poems Syndrome	Pericardial effusion, Pulmonary arterial hypertension, Acrocyanosis	ORPHA:2905
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Incontinentia Pigmenti	Retinal detachment, Telangiectasia of the skin, Eosinophilia, Congestive heart failure, Retinal h...	ORPHA:464
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Pelger-Huet Anomaly	Ventricular septal defect	OMIM:169400
Phaver Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:2876
Cooper-Jabs Syndrome	Ventricular septal defect	ORPHA:1488
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy	OMIM:300952
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep...	OMIM:158170
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr...	OMIM:609942
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr...	OMIM:620024
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia	ORPHA:2505
Costello Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse	ORPHA:3071
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Ventricular septal defect	OMIM:612530
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath...	OMIM:614921
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Zellweger Syndrome	Death in infancy, Jaundice, Ventricular septal defect	ORPHA:912
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia	OMIM:223900
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Myopathy With Extrapyramidal Signs	Ventricular septal defect	OMIM:615673
Seckel Syndrome 9	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:616777
Postinfectious Vasculitis	Cerebral vasculitis, Palpable purpura, Cutis marmorata, Raynaud phenomenon, Cardiomyopathy, Hyper...	ORPHA:48435
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:619123
Sotos Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Prolonge...	OMIM:117550
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Microphthalmia	OMIM:619148
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Ventricular septal defect, Jaund...	OMIM:614866
Short Stature-Micrognathia Syndrome	Intrauterine growth retardation, Ventricular septal defect	OMIM:617164
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Cutis marmorata	OMIM:617602
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect	ORPHA:3078
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni...	OMIM:201000
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:457279
Cockayne Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Retinal atrophy, Optic disc pallor, Ataxia, Sp...	ORPHA:191
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent ductus arteriosus, Intrauterine growth retardation, Ventricular septal defect, Patent fora...	OMIM:620113
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla...	OMIM:618280
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve...	OMIM:265380
Gm1 Gangliosidosis	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor...	ORPHA:354
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Intrauterine growth...	ORPHA:2209
Myasthenia Gravis	Raynaud phenomenon, Acrocyanosis	ORPHA:589
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:617360
Lethal Congenital Contracture Syndrome 10	Intrauterine growth retardation, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
19Q13.11 Microdeletion Syndrome	Intrauterine growth retardation, Ventricular septal defect	ORPHA:217346
Witteveen-Kolk Syndrome	Branchial fistula, Short stature, Growth delay, Intrauterine growth retardation, Iris coloboma	OMIM:613406
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve	OMIM:616652
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Low-output congestive heart ...	ORPHA:565612
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Hypertension, Hypoplastic left...	OMIM:100300
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:617159
Familial Dysautonomia	Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia	ORPHA:1764
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Hand-Foot-Genital Syndrome	Miscarriage, Ventricular septal defect	ORPHA:2438
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Enlarged kidney, Melena, Prolonged proth...	OMIM:276700
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Phace Association	Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia	OMIM:606519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Thakker-Donnai Syndrome	Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect, Transposition of...	ORPHA:1780
Martsolf Syndrome 1	Microphthalmia, Cardiomyopathy	OMIM:212720
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in infancy, Cyanosis, Death in childhood	OMIM:618426
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal cardiac septum morphol...	OMIM:614294
Focal Dermal Hypoplasia	Ventricular septal defect, Spina bifida, Hypoplasia of the iris, Abnormal cardiac septum morpholo...	ORPHA:2092
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Cutis marmorata, Bicuspid aortic valve, Patent ductus arteriosus, Pulm...	OMIM:610759
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Vitreous hemorrhage, Normoch...	ORPHA:91500
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Duane-Radial Ray Syndrome	Ventricular septal defect, Optic disc hypoplasia, Atrial septal defect, Microphthalmia, Spina bif...	OMIM:607323
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice, Lip telang...	OMIM:613471
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Hypertension, Po...	OMIM:609049
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran...	OMIM:164210
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:145420
Incontinentia Pigmenti	Retinal detachment, Eosinophilia, Leukocytosis, Optic atrophy, Retinal hemorrhage	OMIM:308300
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ...	ORPHA:2255
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp...	ORPHA:731
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At...	OMIM:610443
Lymphedema-Distichiasis Syndrome	Microphthalmia, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Fryns Syndrome	Microphthalmia, Abnormal cardiac septum morphology, Tetralogy of Fallot	ORPHA:2059
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol...	ORPHA:42775
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Cyanosis, Transient ischemic attack, Cardiomegaly, Pericardial effusion,...	ORPHA:51608
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Trisomy 1Q	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261344
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Arterial rupture, Mitra...	ORPHA:287
Pentalogy Of Cantrell	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal pericardium morpho...	ORPHA:1335
3Q29 Microdeletion Syndrome	Microphthalmia, Subvalvular aortic stenosis	ORPHA:65286
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Cohen Syndrome	Microphthalmia, Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Weill-Marchesani Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor...	OMIM:277600
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Ventricular septal defect, Mitral regurgitation, Atrial sept...	OMIM:615582
Fanconi Anemia, Complementation Group E	Microphthalmia, Abnormal heart morphology	OMIM:600901
Mgat2-Cdg	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Reflex asystolic ...	ORPHA:79329
Steinfeld Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:184705
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:300963
16Q24.3 Microdeletion Syndrome	Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia	OMIM:206900
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Supr...	OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:300998
Trichinellosis	Lethargy, Retinal hemorrhage	ORPHA:863
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Ventricular septal defect, Premature graying of hair, Cardio...	ORPHA:769
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Pulmoni...	OMIM:602782
Short-Rib Thoracic Dysplasia 12	Ventricular septal defect, Patent ductus arteriosus, Neonatal death, Intrauterine growth retardat...	OMIM:269860
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Optic nerve hypoplasia, Truncus arteriosus, Ventricular septal defect, Spi...	ORPHA:508498
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
De Barsy Syndrome	Ventricular septal defect, Progeroid facial appearance, Patent ductus arteriosus, Prominent veins...	ORPHA:2962
Fanconi Anemia, Complementation Group A	Microphthalmia, Abnormal heart morphology	OMIM:227650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	ORPHA:464738
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Intrauterine growth retardation, Ventricular septal defect	OMIM:611812
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Syndromic Diarrhea	Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:84064
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Abnormal cardiac septum morphology, Umbilical hernia	ORPHA:2166
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect	OMIM:219730
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Death in childhood	OMIM:600460
Micro Syndrome	Microphthalmia	ORPHA:2510
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Mitral valve prolapse	OMIM:618874
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Fanconi Anemia, Complementation Group F	Atrial septal defect, Microphthalmia	OMIM:603467
Den Hoed-De Boer-Voisin Syndrome	Intrauterine growth retardation, Ventricular septal defect, Death in adolescence	OMIM:619229
Renal Agenesis	Hypertension, Ventricular septal defect	ORPHA:411709
Aicardi-Goutières Syndrome	Cutis marmorata, Cardiomegaly, Raynaud phenomenon, Prolonged neonatal jaundice, Hypertrophic card...	ORPHA:51
Mosaic Trisomy 1	Microphthalmia, Ventricular septal defect	ORPHA:1692
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Ventricular septal defect	OMIM:235255
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Kleefstra Syndrome	Ventricular septal defect, Tetralogy of Fallot, Bicuspid aortic valve, Arrhythmia	ORPHA:261494
Trisomy 18	Ventricular septal defect, Spina bifida, Anencephaly, Atrial septal defect, Microphthalmia	ORPHA:3380
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Atrial septal defect, Microphthalmia, Histiocytoid c...	OMIM:309801
Bohring-Opitz Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:605039
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Ventricular septal defect, Jaundice, Pulmonic stenosis, Intrauterine growth...	OMIM:222470
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar...	ORPHA:209905
Peroxisome Biogenesis Disorder 1A (Zellweger)	Death in childhood, Patent ductus arteriosus, Ventricular septal defect, Prolonged neonatal jaundice	OMIM:214100
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia	OMIM:613451
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ventricular septal defect	OMIM:309520
1Q21.1 Microdeletion Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:250989
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Right bundle branch...	OMIM:617506
Teebi-Shaltout Syndrome	Microphthalmia, Aortic valve stenosis, Ventricular septal defect	OMIM:272950
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	ORPHA:251014
Recombinant 8 Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:96167
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia, Cardiac fibroma	ORPHA:77301
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Spina bifida	ORPHA:3412
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Jacobsen Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Macular hypoplasia	OMIM:147791
Leigh Syndrome	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Congesti...	ORPHA:506
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis	OMIM:617239
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Cerebrocostomandibular Syndrome	Intrauterine growth retardation, Ventricular septal defect, Death in infancy	ORPHA:1393
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida, Cardiac fibroma, Cardiac rhabdomyoma	OMIM:109400
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:614609
Microphthalmia, Syndromic 2	Anophthalmia, Ventricular septal defect, Dextrocardia, Phthisis bulbi, Double outlet right ventri...	OMIM:300166
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve	ORPHA:96201
Chops Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve...	OMIM:616368
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ventricular septal defect	ORPHA:268249
Pallister-Hall Syndrome	Neonatal death, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular septal defect	OMIM:146510
Lateral Meningocele Syndrome	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve	OMIM:130720
Mosaic Trisomy 16	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:1708
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Trichothiodystrophy	Ventricular septal defect, Prematurely aged appearance, Cardiomyopathy, Intrauterine growth retar...	ORPHA:33364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
C Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Donnai-Barrow Syndrome	Ventricular septal defect	OMIM:222448
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261236
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Pelvis-Shoulder Dysplasia	Hydranencephaly, Bilateral microphthalmos, Spina bifida	ORPHA:2839
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri...	OMIM:616894
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Bruising susceptibility, Ventricular septal defect	OMIM:227645
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Atrial septal defect, Pericardial effusion, Pericardial lymphangiectasia, Ventricular septal defect	OMIM:235510
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Subretinal pigment epithelium hemorrhage	ORPHA:357074
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati...	OMIM:608328
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Neon...	OMIM:619534
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonary art...	ORPHA:163956
Fanconi Anemia	Spina bifida, Aplasia/Hypoplasia of the iris, Abnormal cardiac septum morphology, Abnormal aortic...	ORPHA:84
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Meningocele, Occipi...	ORPHA:567
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:606232
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79345
Craniofacioskeletal Syndrome	Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept...	OMIM:300712
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect	OMIM:613309
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Meckel Syndrome	Encephalocele, Anophthalmia, Situs inversus totalis, Anencephaly, Aplasia/Hypoplasia of the iris,...	ORPHA:564
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Ventricular septal defect, Umbilical hernia, Patent foramen ovale	OMIM:613884
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr...	OMIM:617063
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Marshall-Smith Syndrome	Ventricular septal defect, Patent ductus arteriosus, Premature ventricular contraction, Hypertens...	OMIM:602535
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Intrauterine growth re...	ORPHA:464311
Ulnar-Mammary Syndrome	Arrhythmia, Ventricular septal defect	ORPHA:3138
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:613457
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:607721
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect	OMIM:609460
Microgastria-Limb Reduction Defect Syndrome	Atrial septal defect, Microphthalmia, Truncus arteriosus, Anophthalmia	ORPHA:2538
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Alg9-Cdg	Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Abnormal heart morpholo...	ORPHA:79328
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Neu-Laxova Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Yellow subcutaneous tissue covered by thin, ...	OMIM:256520
Mend Syndrome	Microphthalmia, Aortic valve stenosis, Abnormal heart morphology	ORPHA:401973
Cousin Syndrome	Hydranencephaly, Microphthalmia	OMIM:260660
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave, Ventricular septal defect, Mitral valve prolapse	ORPHA:444072
Acro-Renal-Ocular Syndrome	Microphthalmia, Tetralogy of Fallot, Optic disc hypoplasia	ORPHA:959
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida	OMIM:234100
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Ventricular septal defect, Muscular ventricular septal defect, Death in childho...	OMIM:210710
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Atria...	ORPHA:163979
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Aorti...	ORPHA:96121
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent ductus arteriosus, Pulmonary arterial hypertension, Ventricular septal defect, Patent fora...	OMIM:618454
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect	OMIM:615503
3Mc Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Conjunctival telangiec...	OMIM:257920
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, ...	ORPHA:2556
Fanconi Anemia, Complementation Group D2	Microphthalmia, Abnormal heart morphology	OMIM:227646
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Intrauterine growth retardation, Pulmonary valve atresia, Ventricular septa...	OMIM:301030
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Complete atrioventricular canal defect, Tetralogy of Fallot	OMIM:617925
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect	OMIM:178110
Mosaic Variegated Aneuploidy Syndrome	Atrial septal defect, Microphthalmia, Subvalvular aortic stenosis	ORPHA:1052
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia	OMIM:616300
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale	OMIM:618748
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Coffin-Siris Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:1465
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Mosaic Trisomy 20	Abnormal mitral valve morphology, Intrauterine growth retardation, Dysplastic tricuspid valve, Ve...	ORPHA:1724
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Intrauterine growth re...	ORPHA:464306
Hardikar Syndrome	Ventricular septal defect, Portal hypertension, Hematemesis, Jaundice, Partial anomalous pulmonar...	OMIM:301068
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Oculodentodigital Dysplasia	Arrhythmia, Ventricular septal defect	ORPHA:2710
Paternal Uniparental Disomy Of Chromosome 6	Intrauterine growth retardation, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Chime Syndrome	Ventricular septal defect, Erythema, Tetralogy of Fallot, Transposition of the great arteries, Pu...	ORPHA:3474
Oculodentodigital Dysplasia	Atrial septal defect, Microphthalmia	OMIM:164200
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Retinal hemorrhage	ORPHA:79098
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent...	ORPHA:466791
Full Nf2-Related Schwannomatosis	Unsteady gait, Remnants of the hyaloid vascular system	ORPHA:637
Autosomal Recessive Robinow Syndrome	Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal tricus...	ORPHA:1507
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:488632
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Microphthalmia, Patent foramen ovale	OMIM:620005
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Ventricular septal defect, Patent foramen ovale	OMIM:616975
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Pitt-Hopkins Syndrome	Acrocyanosis	ORPHA:2896
Jacobsen Syndrome	Death in infancy, Ventricular septal defect, Hypoplastic left heart, Intrauterine growth retardat...	ORPHA:2308
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Hypertension, Atrial s...	OMIM:139210
Opitz Gbbb Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:2745
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect	ORPHA:1655
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:244450
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Abnormal anatomic location of th...	ORPHA:2461
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Anencephaly, Abnormal cardiac septum morphology, Microph...	OMIM:249000
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Ventricular septal defect	OMIM:259770
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Anophthalmia	ORPHA:2526
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect	OMIM:619306
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect	OMIM:263520
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect...	OMIM:143095
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia, Tetralogy of Fallot	ORPHA:306542
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Cornelia De Lange Syndrome 1	Intrauterine growth retardation, Ventricular septal defect, Cutis marmorata	OMIM:122470
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation, Atrial septal defect, Fra...	OMIM:271640
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ...	ORPHA:1519
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor...	ORPHA:363958
Trichohepatoneurodevelopmental Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:618268
Fontaine Progeroid Syndrome	Atrial septal defect, Bicuspid aortic valve, Abnormal heart morphology, Umbilical hernia, Left ve...	OMIM:612289
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Atrial septal defect, In...	OMIM:105650
Bartsocas-Papas Syndrome 1	Microphthalmia, Patent foramen ovale	OMIM:263650
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Intra...	ORPHA:818
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Atri...	OMIM:274000
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Atrial septal defect, Microphthalmia, Total anomalous pulmonary venous return	OMIM:609945
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis	ORPHA:293987
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:192430
Smith-Lemli-Opitz Syndrome	Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Severe photosensitivity, H...	OMIM:270400
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu...	ORPHA:97360
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Ventricular septal defect	OMIM:619575
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Ventricular septal defect, Prolonged neonatal jaundice	OMIM:619418
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral microphthalmos, Cardiomyopathy, Atrial septal ...	ORPHA:3472
Keutel Syndrome	Hypertension, Miscarriage, Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Larsen Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:150250
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Atrial septal defect, Microphthalmia, Tetralog...	OMIM:309500
Fryns Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:229850
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Death in infancy, Ventricular septal defect, Cardiomy...	ORPHA:373
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor...	ORPHA:444077
Charge Syndrome	Anophthalmia, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Dysplas...	OMIM:214800
Charge Syndrome	Anophthalmia, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Microphthalmi...	ORPHA:138
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Degcags Syndrome	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Microphthalmia, Patent forame...	OMIM:619488
Zttk Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, ...	OMIM:617140
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he...	ORPHA:268261
Osteopathia Striata With Cranial Sclerosis	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:300373
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia, Umbilical hernia	ORPHA:534
Feingold Syndrome 1	Patent ductus arteriosus, Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis	OMIM:164280
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Holoprosencephaly 7	Occipital meningocele, Microphthalmia, Bilateral microphthalmos	OMIM:610828
Liver Disease, Severe Congenital	Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c...	OMIM:619991
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous ventricular septal defe...	OMIM:612474
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten...	OMIM:616268
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort...	ORPHA:904
Aicardi Syndrome	Microphthalmia, Spina bifida	OMIM:304050
Hydrolethalus Syndrome 1	Complete atrioventricular canal defect, Stillbirth, Ventricular septal defect, Intrauterine growt...	OMIM:236680
Acrofacial Dysostosis 1, Nager Type	Urticaria, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:154400
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Mitral...	OMIM:157800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Congestive heart failure,...	OMIM:619475
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Transposition of the great arteries, Subvalvular aortic stenosis, Doub...	OMIM:280000
Combined Immunodeficiency-Enteropathy Spectrum	Intrauterine growth retardation, Ventricular septal defect	ORPHA:436252
Proboscis Lateralis	Microphthalmia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia	ORPHA:141099
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect, Aortic valve stenosis, Mitral stenosis	ORPHA:955
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia	OMIM:133540
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a...	ORPHA:353281
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Aicardi Syndrome	Microphthalmia	ORPHA:50
Catel-Manzke Syndrome	Intrauterine growth retardation, Overriding aorta, Ventricular septal defect, Dextrocardia	OMIM:616145
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Cerebral hemorrhage, Retinal hemorrhage, Ischemic stroke, Peripapillary atrophy...	OMIM:175780
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary arterial hypertension, Ventricular septal defect, Aortopulmonary window	OMIM:620025
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Alagille Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Prolonged neonatal jaundice	OMIM:118450
Noonan Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp...	OMIM:163950
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Arrhythmia, Atrial septal de...	OMIM:218040
Neuroocular Syndrome	Hypoplasia of the fovea, Lens coloboma, Umbilical hernia, Microphthalmia, Patent foramen ovale	OMIM:619539
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal...	ORPHA:3047
Monosomy 9P	Microphthalmia	ORPHA:261112
Alzahrani-Kuwahara Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement	OMIM:619268
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Intrauterine growth retardation, Partial anomalous pulmonary venous return,...	OMIM:301044
Coffin-Lowry Syndrome	Mitral regurgitation, Acrocyanosis, Cutis marmorata	OMIM:303600
Holoprosencephaly 1	Microphthalmia, Single ventricle	OMIM:236100
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Mitral valve prolapse, Pre...	OMIM:194050
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:613458
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:617107
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:102500
Focal Dermal Hypoplasia	Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta	OMIM:305600
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology	OMIM:154500
Goodpasture Syndrome	Cyanosis, Pulmonary hemorrhage	OMIM:233450
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a...	ORPHA:353277
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Perimembranous ventri...	OMIM:180849
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prolapse	ORPHA:500095
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Miscarriage, Pulmonary arterial hypertension, Atrial septal defect, In...	ORPHA:96334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Roberts Syndrome	Microphthalmia	ORPHA:3103
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Ventricular septal defect, Mitral atresia, Portal hypertensi...	OMIM:619503
Fraser Syndrome	Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:2052
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Fraser Syndrome 1	Encephalocele, Anophthalmia, Myelomeningocele, Bilateral microphthalmos, Abnormal heart morphology	OMIM:219000
Limb Body Wall Complex	Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology	ORPHA:2369
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:438213
Diamond-Blackfan Anemia	Atrial septal defect, Ventricular septal defect, Abnormal heart morphology	ORPHA:124
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Cerebrocostomandibular Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:117650
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Mowat-Wilson Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Mi...	OMIM:235730
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art...	OMIM:607872
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Ventricular septal defect, Prolonged neonatal jaundice	OMIM:619525
Pallister-Hall Syndrome	Ventricular septal defect, Umbilical hernia, Atrial septal defect, Microphthalmia, Atrioventricul...	ORPHA:672
Vater/Vacterl Association	Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Intraut...	OMIM:192350
Diets-Jongmans Syndrome	Ventricular septal defect	OMIM:618846
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Coffin-Siris Syndrome 1	Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect, Intra...	OMIM:135900
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Dilatation of the ventricular cavity, Ventricular septal defect	ORPHA:459070
Omodysplasia 1	Atrial septal defect, Ventricular septal defect	OMIM:258315
Townes-Brocks Syndrome	Abnormal pulmonary valve morphology, Abnormal cardiac septum morphology, Atrial septal defect, Mi...	ORPHA:857
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Viss Syndrome	Prominent superficial blood vessels, Epidural hemorrhage, Ventricular septal defect, Coronary sin...	OMIM:619472
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Hypermobile Ehlers-Danlos Syndrome	Arrhythmia, Acrocyanosis	ORPHA:285
Cornelia De Lange Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Cutis marmorata	ORPHA:199
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Total anomalous pulmonary ve...	OMIM:312870
Norrie Disease	Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy	ORPHA:649
Wolf-Hirschhorn Syndrome	Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:194190
Ulnar-Mammary Syndrome	Arrhythmia, Ventricular septal defect	OMIM:181450
Johanson-Blizzard Syndrome	Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, S...	OMIM:243800
Orofaciodigital Syndrome Xiv	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615948
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect	ORPHA:513456
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Intrauterine growth retardation, Patent ductus arteriosus, Ventricular sept...	OMIM:619522
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Severe intrauterine growth retar...	OMIM:268300
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Peters-Plus Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Int...	OMIM:261540
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Abnormal pulmonary valve morphology, Abnormal heart morphology, Pulmonic s...	ORPHA:261537
Penile Agenesis	Atrial septal defect, Ventricular septal defect	ORPHA:49
Mowat-Wilson Syndrome	Bicuspid aortic valve, Abnormal heart morphology, Abnormal cardiac septum morphology, Pulmonic st...	ORPHA:2152
Digeorge Syndrome	Patent ductus arteriosus, Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:188400
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:147920
Sotos Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Prolonged neonata...	ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect	OMIM:620330
Yunis-Varon Syndrome	Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Intraut...	OMIM:216340
Genitopatellar Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:606170
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Pallister-Killian Syndrome	Ventricular septal defect, Patent ductus arteriosus, Stillbirth, Aortic valve stenosis, Atrial se...	OMIM:601803
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia, Bicuspid aortic valve	OMIM:309800
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Retinal pigment epithelial atrophy, Optic atrophy	OMIM:143200

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 Vcan

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Vcan.

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

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

MGI Allele	Allele Type	Produced
Vcan^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Vcan^em2H	Point Mutation	Mice
Vcan^em2(IMPC)Mbp	Exon Deletion	Mice
Vcan^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Vcan^em1H	Point Mutation	Mice
Vcan^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Vcan MGI:102889

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E9.5

X-ray

X-ray

Human diseases caused by Vcan mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data