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Gene: Hhex MGI:96086

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

hematopoietically expressed homeobox

Synonyms:

Hex1, Prhx, Hhex-rs2, Hex

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Hhex 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 Hhex (0 diseases)
Human diseases predicted to be associated with Hhex (835 diseases)

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

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

Disease	Matching phenotypes	Source
Thyroid Cancer, Nonmedullary, 2	Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Follicular thyroid carcinoma	OMIM:188470
Thyroid Cancer, Nonmedullary, 5	Non-medullary thyroid carcinoma	OMIM:616535
Thyroid Carcinoma, Familial Medullary	Medullary thyroid carcinoma	OMIM:155240
Thyroid Cancer, Nonmedullary, 3	Non-medullary thyroid carcinoma	OMIM:606240
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Thyroid Cancer, Nonmedullary, 1	Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter	OMIM:188550
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Thyroid Dyshormonogenesis 2A	Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific...	OMIM:274500
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi...	OMIM:275200
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ...	OMIM:188570
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Thyroid Cancer, Nonmedullary, 4	Goiter, Papillary thyroid carcinoma, Ovarian neoplasm	OMIM:616534
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Blepharochalasis And Double Lip	Goiter	OMIM:109900
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia...	OMIM:611638
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Hypothyroidism, Congenital, Nongoitrous, 9	Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l...	OMIM:301035
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Pendred Syndrome	Compensated hypothyroidism, Thyroid carcinoma, Goiter	OMIM:274600
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter	OMIM:180295
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615396
Lambert Syndrome	Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia...	ORPHA:1296
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Joint contracture of the han...	OMIM:179613
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla...	OMIM:220210
Solitary Median Maxillary Central Incisor	Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Short stature, Ano...	OMIM:147250
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615373
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con...	OMIM:613759
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Oculocerebrocutaneous Syndrome	Anophthalmia, Cryptorchidism, Orbital encephalocele, Gray matter heterotopia, Microphthalmia, Age...	OMIM:164180
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Hypothyroidism, Congenital, Nongoitrous, 5	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:225250
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios	OMIM:615731
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas...	OMIM:614876
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Scimitar Syndrome	Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,...	ORPHA:185
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotransposition...	OMIM:306955
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:616501
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Double outlet right ventricle, Coarctation of aort...	ORPHA:3426
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multinodular goiter	ORPHA:2091
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Neonatal death,...	OMIM:615524
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Ventricular septal defect, Parachute mitral valve, Cryptorchidism, Patent ductus...	OMIM:618316
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defe...	ORPHA:3304
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Pericardial effusion, Microphth...	OMIM:613885
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Growth delay, Holoprosenc...	ORPHA:77298
Familial Papillary Or Follicular Thyroid Carcinoma	Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter	ORPHA:319487
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insulin-dependent di...	ORPHA:1667
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri...	OMIM:619657
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth...	OMIM:613239
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Patent ductus arteriosus, Hydrocephalus, Atrial septal defect, Cho...	OMIM:614886
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Hydrolethalus	Anophthalmia, Cryptorchidism, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Micr...	ORPHA:2189
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Fetal Minoxidil Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:1918
Testicular Anomalies With Or Without Congenital Heart Disease	Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis, Abnormality of thyroid physiology	OMIM:615542
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis, Adrenal insufficiency	ORPHA:251076
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim...	OMIM:274300
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El...	ORPHA:95716
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven...	ORPHA:1344
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Asplenia, Hydrocepha...	ORPHA:244
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Holoprosencephaly	Anophthalmia, Short neck, Abnormality of the spleen, Holoprosencephaly, Chorioretinal coloboma, I...	ORPHA:2162
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Walker-Warburg Syndrome	Anophthalmia, Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Polymicrogyria, Abnormal...	ORPHA:899
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Prolonged neonata...	ORPHA:95715
Anophthalmia Plus Syndrome	Anophthalmia, Iris coloboma, Spina bifida	ORPHA:1104
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Thyroid Dyshormonogenesis 1	Hypothyroidism, Goiter	OMIM:274400
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve prolapse, Coa...	ORPHA:371428
Verheij Syndrome	Branchial cyst, Ventricular septal defect, Optic nerve hypoplasia, Short stature, Short neck, Gro...	OMIM:615583
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter	OMIM:617577
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventri...	OMIM:619167
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Pallister-Hall Syndrome	Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Ventricular septal defect,...	OMIM:146510
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Papillary thyroid carcinoma, Goiter	ORPHA:97290
Trisomy 13	Anophthalmia, Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the iris, Atrial s...	ORPHA:3378
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:1388
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Cryptorch...	OMIM:301056
Cardiomyopathy, Familial Hypertrophic, 21	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse	OMIM:614676
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Li-Campeau Syndrome	Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Cryptorchidism, Atrial...	OMIM:619189
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter, Cryptorchidism	OMIM:616816
Mmep Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:3434
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy, Portal vei...	OMIM:619433
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer...	OMIM:605376
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Transaldolase Deficiency	Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirr...	ORPHA:101028
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Ventricular septal defect	OMIM:601355
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Abnormality of the hypothal...	ORPHA:139471
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Short st...	ORPHA:209905
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Hydrops fetali...	OMIM:601927
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas...	OMIM:275000
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Pleural effu...	OMIM:615355
Trisomy 1Q	Anophthalmia, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Hydroceph...	ORPHA:261344
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:601494
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Decreased response to growth hormone stimulation ...	OMIM:618624
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arterios...	OMIM:270100
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con...	ORPHA:99832
Glutaric Aciduria Iii	Hyperthyroidism, Goiter	OMIM:231690
Thyroid Lymphoma	Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplen...	OMIM:232500
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Prolon...	ORPHA:226313
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus	OMIM:616589
Bangstad Syndrome	Severe short stature, Abnormally large globe, Insulin-resistant diabetes mellitus, Primary gonada...	OMIM:210740
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Maffucci Syndrome	Neoplasm of the adrenal cortex, Short stature, Neoplasm of the parathyroid gland, Pituitary adeno...	ORPHA:163634
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Trunc...	ORPHA:401935
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Edema, Cryptorchidism, Patent ductus arteriosus, Cholestasis, Perimembranous ventri...	OMIM:608104
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali...	OMIM:615415
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy...	OMIM:607598
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Male hypogonadism,...	ORPHA:90322
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Pendred Syndrome	Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter	ORPHA:705
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Nephronophthisis 16	Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ...	OMIM:615382
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Hepatomegaly, Ventricular septal defect, Cryptorchidism	OMIM:613730
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V...	OMIM:126320
Hypothyroidism Due To Tsh Receptor Mutations	Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod...	ORPHA:90673
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal aortic morph...	ORPHA:1166
Renal Tubular Dysgenesis	Tetralogy of Fallot, Polyhydramnios, Oligohydramnios	ORPHA:3033
Polysyndactyly With Cardiac Malformation	Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts	OMIM:263630
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ...	ORPHA:453499
Diabetic Embryopathy	Ventricular septal defect, Abnormality of the pancreas, Hydrocephalus, Aplasia/Hypoplasia of the ...	ORPHA:1926
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Micronodular cir...	OMIM:606003
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu...	OMIM:612946
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Thyroto...	ORPHA:525731
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland...	ORPHA:64744
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l...	OMIM:208085
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Type I...	ORPHA:290
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ...	ORPHA:3405
Multifocal Atrial Tachycardia	Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec...	ORPHA:3282
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Short stature, Optic nerve hypoplasia, Cryptorchidism,...	OMIM:610125
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of...	ORPHA:226316
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Isolated Dandy-Walker Malformation	Encephalocele, Tetralogy of Fallot	ORPHA:217
46,Xx Sex Reversal 5	Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo...	OMIM:618901
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida	ORPHA:2476
Kallmann Syndrome-Heart Disease Syndrome	Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery from the pulmonary artery...	ORPHA:2326
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Meckel Syndrome	Encephalocele, Accessory spleen, Anophthalmia, Pancreatic fibrosis, Pancreatic cysts, Cryptorchid...	ORPHA:564
X-Linked Mandibulofacial Dysostosis	Short stature, Cryptorchidism, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral...	ORPHA:1131
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Ascher Syndrome	Hypothyroidism, Goiter	ORPHA:1253
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr...	OMIM:609152
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, ...	OMIM:206900
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hyperthyroidism, Goiter	OMIM:188580
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Meacham Syndrome	Bicuspid aortic valve, Scimitar anomaly, Neonatal death, Atrial septal defect, Diaphragmatic even...	OMIM:608978
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Thyrocerebroretinal Syndrome	Goiter	OMIM:274240
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Atri...	OMIM:618652
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Thyroid a...	ORPHA:3047
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Hepatomegaly, Ventricular septal defect, Coarctation of aorta	OMIM:620210
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect	ORPHA:2516
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios, Abnormality of the thyroid gland, Coarctation of aorta...	ORPHA:1923
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
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Cryptorchidism, Abnormal mesentery morphology, Ventricular septal defect, Polyhydramnios	ORPHA:2256
Microphthalmia, Syndromic 9	Anophthalmia, Truncus arteriosus, Ventricular septal defect, Short stature, Severe short stature,...	OMIM:601186
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art...	ORPHA:210122
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Holoprosencephaly 9	Anophthalmia, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu...	OMIM:610829
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary...	OMIM:212093
Serkal Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Abnormality of the adrenal glands, Pu...	ORPHA:139466
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Double outlet right ventricl...	ORPHA:163956
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Biliary atresia, A...	ORPHA:2255
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Anaplastic Thyroid Carcinoma	Nodular goiter, Broad neck, Anaplastic thyroid carcinoma, Goiter	ORPHA:142
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Microphthalmia, I...	ORPHA:3412
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopa...	OMIM:249270
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:424
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Klippel-Trénaunay Syndrome	Hepatomegaly, Peripheral arteriovenous fistula, Edema, Venous insufficiency, Patent ductus arteri...	ORPHA:90308
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Peau d'orange, Ventricular septal defect, Splenomega...	OMIM:614576
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Nep...	OMIM:613404
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy...	ORPHA:90674
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Joubert Syndrome 18	Occipital encephalocele, Intrahepatic biliary atresia, Ventricular septal defect, Camptodactyly	OMIM:614815
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,...	OMIM:617021
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Thyrocerebrorenal Syndrome	Euthyroid goiter	ORPHA:3327
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphol...	ORPHA:2166
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept...	ORPHA:99095
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Cholestasis, Hepatic fibros...	OMIM:615630
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypothyroidism, Patent ductus arteriosus, Tetralogy of F...	OMIM:601005
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphalangeal thumb j...	OMIM:613870
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Holoprosencephaly 14	Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v...	OMIM:619895
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Diabetes mellitus, Stroke, Ventricular septal defect	ORPHA:49827
Prune Belly Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Aplasia of the abdominal wal...	ORPHA:2970
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Hypoplastic left h...	OMIM:301043
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Splenomegaly, Patent du...	OMIM:608149
Transketolase Deficiency	Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu...	ORPHA:488618
German Syndrome	Camptodactyly of finger, Lymphedema, Cryptorchidism, Abnormal cardiac septum morphology, Arthrogr...	ORPHA:2077
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Bile duct prol...	OMIM:611134
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventricular septal defect	OMIM:602501
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste...	OMIM:617478
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, C...	OMIM:600001
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Hypogonadotropic hypogonadism, Short stature, Aqueductal...	ORPHA:138
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Cryptorchidism, Hydrocephalus, Ventricular septal defect	OMIM:218350
Long Qt Syndrome 15	Left ventricular noncompaction	OMIM:616249
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ...	OMIM:115197
Tyshchenko Syndrome	Ventricular septal defect, Supernumerary nipple, Polyhydramnios, Cryptorchidism, Pulmonic stenosi...	OMIM:615102
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Optic nerve hypoplasia, Supernumerary nipple, Ventricular septal defect, C...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Optic nerve hypoplasia, Supernumerary nipple, Ventricular septal defect, C...	ORPHA:352665
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Pheochromocytoma, Elevated circulating calcitonin concentration, Nod...	ORPHA:1332
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor...	ORPHA:562
Hypoplastic Left Heart Syndrome	Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic...	ORPHA:2248
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co...	ORPHA:1335
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductu...	ORPHA:500159
Emanuel Syndrome	Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Cryp...	OMIM:609029
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o...	ORPHA:3097
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Hyperthyroidism, Diabetes mellitus, Facial palsy, Edema, Goiter, Q...	ORPHA:254892
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Macroglossia,...	OMIM:615668
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Increased n...	OMIM:616564
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart	OMIM:618142
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, Secundum atrial septal defec...	OMIM:214800
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v...	ORPHA:2184
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology	ORPHA:254534
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Cryp...	OMIM:605275
Woods Syndrome	Ventricular septal defect, Supernumerary nipple	OMIM:615236
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane...	ORPHA:1908
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, ...	OMIM:619542
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomegaly	OMIM:616651
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postnatal growth retardation, Hydrocephalus,...	OMIM:605627
Intellectual Developmental Disorder, Autosomal Dominant 47	Cryptorchidism, Increased nuchal translucency, Ventricular septal defect, Supernumerary nipple	OMIM:617635
Atelis Syndrome 1	Atrial septal defect, Hypothyroidism, Ventricular septal defect	OMIM:620184
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, Truncus arteriosus	OMIM:617516
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic...	ORPHA:2470
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect, Hypothyroidism	OMIM:619908
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Coarctation of aorta, A...	OMIM:618494
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Short stature	OMIM:609166
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Jaundice, Vasculitis, Hepatiti...	ORPHA:2331
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Anophthalmia, Delayed eruption of primary teeth, Pos...	ORPHA:90321
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Cryptorchidism, Severe postnatal growth retardation	ORPHA:435938
Microphthalmia, Isolated 8	Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia	OMIM:615113
Aase-Smith Syndrome I	Hydrocephalus, Flexion contracture, Ventricular septal defect	OMIM:147800
Lambotte Syndrome	Ventricular septal defect, Semilobar holoprosencephaly	OMIM:245552
X-Linked Lissencephaly With Abnormal Genitalia	Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Exocrine pancreatic insuffic...	ORPHA:452
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Absent nipple, Aplasia of the thymus, Short stature, Patent foramen ...	OMIM:620186
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida	ORPHA:2345
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Hydrocephalus, Transposition of the great arteries, Neonatal death,...	OMIM:314390
Distal Deletion 15Q	Decreased serum insulin-like growth factor 1, Bicuspid aortic valve, Mitral atresia, Congenital d...	ORPHA:1596
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr...	OMIM:280000
Giant Cell Arteritis	Pericarditis, Diabetes insipidus, Vasculitis, Aortic dissection, Hepatic failure, Double outlet r...	ORPHA:397
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventri...	OMIM:614921
Alagille Syndrome 2	Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal...	OMIM:610205
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Cowden Syndrome 7	Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter	OMIM:616858
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Vascular ring, Knee flexion co...	OMIM:603387
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery steno...	ORPHA:251071
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Limited neck flexion, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:83601
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect, Holoprosencephaly, Anterior encephalocele	OMIM:601357
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Agenesis of corpus callosum, Ab...	ORPHA:42775
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Hypertrophic ...	OMIM:612938
Filippi Syndrome	Cryptorchidism, Ventricular septal defect	OMIM:272440
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia	OMIM:619909
Microphthalmia With Limb Anomalies	Anophthalmia, Unilateral cryptorchidism, Postnatal growth retardation, Growth delay, Microphthalmia	OMIM:206920
Noonan Syndrome 9	Cryptorchidism, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Cholelithiasis, Hypertrophic cardiomyopathy, Per...	OMIM:618775
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Precocious puberty, Cryptorchidism, Hypogonadism, Tetralogy of Fallot	ORPHA:3306
Thyroid Ectopia	Short stature, Abnormality of the thyroid gland, Jaundice, Growth delay, Ectopic thyroid, Umbilic...	ORPHA:95712
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lateral ve...	OMIM:300952
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect	ORPHA:398156
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Euthyroid goiter	OMIM:113650
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Cryptorchidism, Anosmia, Hypogonadism, Microphthalmia, Failure of eruption of perma...	ORPHA:2250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Skeletal muscle atrophy, Hydrocephalus, Dilated cardiomyopathy, Flexion contractur...	OMIM:253800
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia	OMIM:617450
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Atrial septal defect, Ne...	OMIM:265380
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Dextrocardia	OMIM:618067
Mitral Valve Prolapse 2	Mitral valve prolapse	OMIM:607829
Mitral Valve Prolapse 3	Mitral valve prolapse	OMIM:610840
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo...	OMIM:121050
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Congenital muscular torticollis, Anophthalmia, Abnormal cortical gyration, Abnormal...	ORPHA:2538
Cowden Syndrome 5	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go...	OMIM:615108
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo...	OMIM:203800
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia o...	ORPHA:861
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E...	OMIM:617201
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Adrenal hypoplasia, Hydrocephalus, A...	ORPHA:7
Acrocardiofacial Syndrome	Hyperthyroidism, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Cryptorchid...	ORPHA:2008
Fibular Hemimelia	Anophthalmia, Spina bifida, Abnormal heart morphology	ORPHA:93323
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Polyhydramnios, Ventricular septal defect, Vascular dilatation	OMIM:219730
Cardiac-Urogenital Syndrome	Accessory spleen, Unilateral cryptorchidism, Cor triatrium sinister, Ventricular septal defect, D...	OMIM:618280
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A...	OMIM:249420
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Patent ductus arteri...	ORPHA:2306
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal transluce...	OMIM:618870
Costello Syndrome	Ventricular septal defect, Polyhydramnios, Cryptorchidism, Mitral valve prolapse, Macroglossia, P...	ORPHA:3071
Emanuel Syndrome	Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma...	ORPHA:96170
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl...	OMIM:616897
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Hypothyroidism, Patent ductus arteriosus, Hypoplastic ao...	OMIM:300166
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situs inversus, Pulmonic stenosis,...	OMIM:619123
Cowden Syndrome 6	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go...	OMIM:615109
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo...	OMIM:617022
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina bifida, Camptodac...	ORPHA:99776
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Dysplastic tricuspid valve, Patent ductus arteriosus, Mitral valve prolapse, Right...	OMIM:612863
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe...	OMIM:612562
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Atria...	ORPHA:329224
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Pa...	OMIM:235255
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Post...	ORPHA:75389
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Short stature, Anterior pituitary hypoplasia, Adrenal hypoplas...	ORPHA:264200
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr...	OMIM:618027
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en...	ORPHA:101330
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:218700
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Ventricular septal defect	OMIM:618504
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Congen...	ORPHA:2519
Carpenter Syndrome 1	Ventricular septal defect, Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Spina bi...	OMIM:201000
Cowden Syndrome 1	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,...	OMIM:158350
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenom...	ORPHA:733
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Hydrocephalus, Pate...	OMIM:269860
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot...	OMIM:115470
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Patent foramen ovale, Transposition of the great arteries, Cryptorchidism	OMIM:616789
Syndromic Diarrhea	Hepatomegaly, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Splenomegaly, Pat...	ORPHA:84064
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Ascending aorta hypoplasia,...	OMIM:619503
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Pheochromoc...	OMIM:160980
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Lymphedema, Pulmonary lymphangiectasia, Mitral valve prolapse	OMIM:247410
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Optic disc coloboma,...	ORPHA:261337
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Calf muscle...	OMIM:615673
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Precocious puberty, Coloboma, Microphthalmia	OMIM:615877
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Arthrogryposis-like hand an...	ORPHA:369891
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct...	ORPHA:980
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aortic arch, Co...	ORPHA:2876
Brachydactyly, Type B1	Joint contracture of the hand, Ventricular septal defect, Camptodactyly	OMIM:113000
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple	ORPHA:46627
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Spina bifida occulta, Transposition of the great arteri...	OMIM:617877
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Short stature	ORPHA:50815
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Cryptorchidism, Tricuspid valve prolapse, Aniridia, Umbilical hernia	ORPHA:1101
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619769
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra...	ORPHA:435638
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Camptodactyly, Atrial septal defect	OMIM:301039
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Hypomimic face	OMIM:608572
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Mitral valve...	OMIM:609942
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Optic disc coloboma, Holoprosenc...	ORPHA:141099
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:618348
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Fraser Syndrome 1	Encephalocele, Anophthalmia, Abnormal cortical gyration, Cryptorchidism, Myelomeningocele, Hydroc...	OMIM:219000
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Tetralo...	OMIM:612582
Noonan Syndrome 4	Ventricular septal defect, Polyhydramnios, Cryptorchidism, Pulmonic stenosis, Atrial septal defec...	OMIM:610733
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Hepatomegaly, Ventricular septal ...	ORPHA:26793
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Infancy onset short-trunk short stature, Ventricular...	ORPHA:508488
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosu...	OMIM:617159
Focal Dermal Hypoplasia	Delayed eruption of teeth, Anophthalmia, Short stature, Supernumerary nipple, Cryptorchidism, Mye...	OMIM:305600
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalu...	OMIM:300514
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega...	ORPHA:96191
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve...	ORPHA:1880
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposit...	OMIM:313850
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Complete atrioventric...	OMIM:264480
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Aplas...	ORPHA:354
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Severe short stature, Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse,...	ORPHA:2556
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula...	OMIM:615474
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Pul...	OMIM:300963
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Camptodactyly	OMIM:619980
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Interrupted aortic arch, Limb...	OMIM:616920
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Codas Syndrome	Extrahepatic biliary duct atresia, Ventricular septal defect	ORPHA:1458
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At...	OMIM:619472
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Ventricular septal defect, Precocious puberty, Cryptorchidism, Atrial septal d...	ORPHA:254346
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Thyroid lymph...	OMIM:235510
Alagille Syndrome	Hepatomegaly, Ventricular septal defect, Cryptorchidism, Cholestasis, Reduced number of intrahepa...	ORPHA:52
Suleiman-El-Hattab Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren...	ORPHA:369929
Seckel Syndrome 9	Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Pulmonary artery hypo...	OMIM:616777
Pelger-Huet Anomaly	Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness	OMIM:169400
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Cryp...	OMIM:620025
Thyroid Hypoplasia	Short stature, Jaundice, Growth delay, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hepatic cysts, Cerebral berry aneurysm, Mitral valve prolapse	OMIM:173900
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect	OMIM:243440
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
Spondylo-Ocular Syndrome	Facial hypotonia, Ventricular septal defect	ORPHA:85194
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Ventricular septal defect	ORPHA:79243
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Cryptorchidism, Flexion contracture, Ventricular septal defect	OMIM:617452
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Atr...	OMIM:244300
Lateral Meningocele Syndrome	Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent d...	OMIM:130720
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Adrenal gl...	OMIM:611812
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect	ORPHA:40366
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep...	OMIM:613001
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul...	OMIM:610978
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale	OMIM:614961
Rere-Related Neurodevelopmental Syndrome	Cryptorchidism, Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atresia, Patent foramen ova...	OMIM:620113
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Transpos...	ORPHA:1780
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Pancreatic lymphangiectasis, Splenomegal...	ORPHA:1655
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Kleefstra Syndrome Due To 9Q34 Microdeletion	Cryptorchidism, Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac septum m...	ORPHA:96147
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Supernumerary ...	ORPHA:457279
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly	OMIM:615636
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Cryptorchidism, Limb joint contracture, Ventricular septal defect	ORPHA:505237
Oligomeganephronia	Branchial cyst, Secundum atrial septal defect, Optic disc coloboma	ORPHA:2260
Filippi Syndrome	Cryptorchidism, Ventricular septal defect, Supernumerary nipple	ORPHA:3255
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Patent foramen ...	OMIM:609053
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Ventricular septal defect	ORPHA:3078
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Pulmonary artery stenosis, Pa...	ORPHA:96167
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve	OMIM:619492
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Decreased response to growth hormone s...	OMIM:601808
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the proximal interpha...	OMIM:300998
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, ...	ORPHA:261330
Distal Duplication 5Q	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia	ORPHA:96097
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism,...	OMIM:612530
19P13.3 Microduplication Syndrome	Precocious puberty, Ventricular septal defect, Unilateral cryptorchidism	ORPHA:447980
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he...	ORPHA:1692
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Polyhydramnios	OMIM:615503
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage	OMIM:614424
Branchiooculofacial Syndrome	Anophthalmia, Supernumerary nipple, Short neck, Postnatal growth retardation, Cryptorchidism, Low...	OMIM:113620
Trichohepatoenteric Syndrome 1	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Abnormality of the pancreas, Splenomegal...	OMIM:222470
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Ogden Syndrome	Cryptorchidism, Pulmonary artery stenosis, Ventricular septal defect, Torticollis	ORPHA:276432
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th...	OMIM:142900
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Polycystic ovaries	ORPHA:1770
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa...	OMIM:600460
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
C Syndrome	Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cryptorchidism	OMIM:211750
Zellweger Syndrome	Hepatomegaly, Ventricular septal defect, Cryptorchidism, Jaundice, Primary adrenal insufficiency,...	ORPHA:912
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Cryptorchidism, Coronar...	OMIM:614294
Familial Multinodular Goiter	Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S...	ORPHA:276399
Bor Syndrome	Branchial cyst	ORPHA:107
Sotos Syndrome	Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Patent ductus arte...	OMIM:117550
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defect, Spina bifida occulta	OMIM:617360
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple	OMIM:106260
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Mgat2-Cdg	Ventricular septal defect, Abnormality of the endocrine system, Patent ductus arteriosus, Hydrops...	ORPHA:79329
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Short Stature-Micrognathia Syndrome	Skeletal muscle hypertrophy, Cryptorchidism, Ventricular septal defect	OMIM:617164
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Ventricular septal defect, Interface hepatitis, Polyhydramnios	OMIM:243150
Tetraamelia Syndrome 2	Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cryptorchidism, Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Pallister-Hall Syndrome	Adrenal hypoplasia, Gonadotropin deficiency, Holoprosencephaly, Atrial septal defect, Atrioventri...	ORPHA:672
Insulin-Like Growth Factor I, Resistance To	Diabetes mellitus, Ventricular septal defect, Increased circulating insulin-like growth factor 1 ...	OMIM:270450
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, ...	OMIM:618268
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Hydrocele testis	OMIM:145420
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Aqueductal s...	OMIM:619534
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Hydrops fetalis, Coarc...	ORPHA:268249
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Interrupted aortic arch, Pulmonary...	OMIM:192430
Alg9-Cdg	Hepatomegaly, Torticollis, Ventricular septal defect, Hypoplasia of the musculature, Pericardial ...	ORPHA:79328
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple...	OMIM:619418
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Cryptorchidism, Ventricular septal defect	OMIM:620073
X Small Rings	Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Oligohyd...	ORPHA:96201
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of the endocrine system, Abnormal vena cava morphology, Ventricular septal defect, Cr...	ORPHA:166035
Mckusick-Kaufman Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic left heart, Atri...	ORPHA:2473
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Coarctation of aorta,...	OMIM:617602
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Hyperthyroidism, Ventricular septal defect, Diastasis recti, Decreased r...	ORPHA:488632
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Holoprosencephaly, Atrial sep...	ORPHA:261236
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Short stature, Adrenal hypoplasia, Mild intrauterine growth retardation, Abnormal cardiac septum ...	OMIM:308050
Bohring-Opitz Syndrome	Ventricular septal defect, Supernumerary nipple, Polyhydramnios, Flexion contracture, Hyperechoge...	OMIM:605039
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo...	OMIM:620024
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Decreased response to growth hormone stimulation test, Coarctation of ...	OMIM:614114
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Ventricular septal defect, Flexion contracture, Ascending tubular aorta aneurysm,...	OMIM:309520
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Rieger anomaly, Congenital hypothyroidism, Buphthalmos, Delayed eruption of permanent teeth, Thyr...	ORPHA:521445
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Mosaic Trisomy 16	Ventricular septal defect, Maternal diabetes, Patent ductus arteriosus, Coarctation of aorta, Abn...	ORPHA:1708
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di...	OMIM:613309
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Polyhydramnios, Hepatitis, Hypoplasia of the thymus, Type I diabetes m...	ORPHA:436252
Chops Syndrome	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Cryptorchidism, Anomalous pulm...	OMIM:616368
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Asplenia, Patent...	OMIM:164280
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic...	ORPHA:2369
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Abnormal ...	ORPHA:171
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Eisenmenger Syndrome	Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Aortopulmonary wi...	ORPHA:97214
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Hypot...	OMIM:610443
Alagille Syndrome 1	Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu...	OMIM:118450
Congenital Tracheal Stenosis	Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct...	ORPHA:141127
19Q13.11 Microdeletion Syndrome	Cryptorchidism, Ventricular septal defect, Supernumerary nipple	ORPHA:217346
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arter...	ORPHA:163979
Chromosome 9P Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric...	OMIM:158170
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly	ORPHA:466950
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Hydrocephalus, Bi...	OMIM:609192
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Hypoplastic ...	OMIM:617506
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Bilateral cr...	OMIM:613457
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Interrup...	OMIM:300712
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary ...	OMIM:100300
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Cryptorchidism, Pulmonary...	ORPHA:261494
Coffin-Siris Syndrome	Ventricular septal defect, Hepatoblastoma, Cryptorchidism, Patent ductus arteriosus, Abnormal hea...	ORPHA:1465
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema	OMIM:606232
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Adrenal hypoplasia, Cry...	OMIM:214100
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Pulmo...	OMIM:610759
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:277600
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno...	OMIM:614609
Rabson-Mendenhall Syndrome	Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Precocious puberty, Insulin...	ORPHA:769
Microphthalmia With Limb Anomalies	Short stature, Cryptorchidism, Hydrocephalus, Microphthalmia, True anophthalmia	ORPHA:1106
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Increased nuchal ...	ORPHA:79345
Opitz Gbbb Syndrome	Enlarged ovaries, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Pat...	ORPHA:2745
Witteveen-Kolk Syndrome	Branchial fistula, Unilateral cryptorchidism, Decreased response to growth hormone stimulation te...	OMIM:613406
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Radio-Tartaglia Syndrome	Precocious puberty, Ventricular septal defect	OMIM:619312
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog...	OMIM:618748
Fraser Syndrome	Encephalocele, Anophthalmia, Cryptorchidism, Myelomeningocele, Microphthalmia, Umbilical hernia	ORPHA:2052
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida,...	OMIM:274000
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Elevated circulating as...	OMIM:614866
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Spina bifida, Facial palsy,...	ORPHA:508498
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Stroke-like episode, Polycy...	ORPHA:137675
Focal Dermal Hypoplasia	Acute hepatic failure, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic herni...	ORPHA:2092
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl...	OMIM:178110
Donnai-Barrow Syndrome	Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:222448
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia...	ORPHA:3380
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Severe short stature, Anophthalmia	ORPHA:2526
Jacobsen Syndrome	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Flexion contracture, Holoprosencephaly,...	OMIM:147791
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Ventricular septal defect, Hydrocephalus, Branchial anomal...	OMIM:164210
3Mc Syndrome 1	Ventricular septal defect, Diastasis recti, Supernumerary nipple, Patent ductus arteriosus, Atria...	OMIM:257920
Microphthalmia, Syndromic 6	Anophthalmia, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Coloboma, Microphthalmia, ...	OMIM:607932
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal defect, ...	ORPHA:567
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Atri...	OMIM:309801
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Cowden Syndrome	Short stature, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyr...	ORPHA:201
De Barsy Syndrome	Decreased muscle mass, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypop...	ORPHA:2962
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Facial palsy, Polyhydramnios, Hydrocephalus, Patent ductus arteriosus,...	OMIM:300373
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Cryptorchidism, Patent duct...	ORPHA:464311
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Flexion contracture, Ventricular septal defect	OMIM:619306
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Cryptorchidism, Patent ductus arteriosus, Cam...	OMIM:616894
Cerebellofaciodental Syndrome	Cryptorchidism, Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Lateral Meningocele Syndrome	Cryptorchidism, Meningocele, Ventricular septal defect	ORPHA:2789
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Atrial septal defect, Pan...	OMIM:619991
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Doors Syndrome	Adrenal hyperplasia, Polyhydramnios, Congenital hypothyroidism, Double outlet right ventricle, Sp...	ORPHA:79500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Hydrops fetalis, Hepatic fibrosis, Atrial septal ...	OMIM:263520
Kleefstra Syndrome 1	Macroglossia, Conotruncal defect, Cryptorchidism	OMIM:610253
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca...	OMIM:611878
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616449
Loeys-Dietz Syndrome 5	Decreased muscle mass, Scapular winging, Ventricular septal defect, Aortic root aneurysm, Ascendi...	OMIM:615582
Ulnar-Mammary Syndrome	Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Aplasia of the pectoralis maj...	ORPHA:3138
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect	ORPHA:251038
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Left superior vena cava draining to coronary sinus, Atrial septal defe...	ORPHA:464738
Orofaciodigital Syndrome V	Unilateral cryptorchidism, Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Neu-Laxova Syndrome 1	Ventricular septal defect, Spina bifida, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus...	OMIM:256520
Duane-Radial Ray Syndrome	Upper limb muscle hypoplasia, Ventricular septal defect, Facial palsy, Small thenar eminence, Pec...	OMIM:607323
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, Polyhydramnios, Cryptorchidism, Pulmonic stenosis, Atrial septal defec...	OMIM:607721
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Ascendi...	ORPHA:444072
Renal Agenesis	Ventricular septal defect, Oligohydramnios	ORPHA:411709
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ...	ORPHA:2461
Codas Syndrome	Ventricular septal defect, Polyhydramnios, Cryptorchidism, Atrial septal defect, Atrioventricular...	OMIM:600373
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Varicose veins	OMIM:617107
Diets-Jongmans Syndrome	Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Cryptorchidism, Inter...	OMIM:618846
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr...	ORPHA:653
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Hypogonadotropic hypogonadism, Pulmonary artery stenosis, Pulmonary va...	OMIM:301030
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Congenital diaphragmatic hernia, Supernumerary nipple, Cryptorchidism,...	OMIM:618454
Carney Complex	Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, ...	ORPHA:1359
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Multiple Endocrine Neoplasia, Type Iib	Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular...	OMIM:162300
Weill-Marchesani Syndrome 2	Ventricular septal defect, Patent ductus arteriosus, Elbow flexion contracture, Ascending aortic ...	OMIM:608328
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe...	OMIM:236680
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptor...	ORPHA:466791
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Intellectual Developmental Disorder, Autosomal Dominant 53	Cryptorchidism, Ventricular septal defect	OMIM:617798
Cohen Syndrome	Cryptorchidism, Ventricular septal defect, Delayed puberty, Mitral valve prolapse	ORPHA:193
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Ventricular septal defect, Anterior pituitary hypoplasia, Cryptorchi...	ORPHA:464306
Cerebrocostomandibular Syndrome	Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly	ORPHA:1393
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio...	ORPHA:96121
Noonan Syndrome 1	Ventricular septal defect, Lymphedema, Cryptorchidism, Patent ductus arteriosus, Coarctation of a...	OMIM:163950
Diaphanospondylodysostosis	Abnormal liver lobulation	OMIM:608022
Hajdu-Cheney Syndrome	Hepatomegaly, Ventricular septal defect, Mitral stenosis, Splenomegaly, Patent ductus arteriosus,...	ORPHA:955
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Decreased re...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Decreased re...	ORPHA:363958
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Myopathy, Hypert...	ORPHA:506
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia...	ORPHA:373
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Den Hoed-De Boer-Voisin Syndrome	Ventricular septal defect, Oligohydramnios	OMIM:619229
Fryns Syndrome	Ectopic pancreatic tissue, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Aplasia of ...	OMIM:229850
Digeorge Syndrome	Hepatic steatosis, Ventricular septal defect, Parathyroid agenesis, Decreased circulating parathy...	OMIM:188400
Costello Syndrome	Ventricular septal defect, Rhabdomyosarcoma, Polyhydramnios, Hydrocephalus, Achilles tendon contr...	OMIM:218040
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:619525
Stüve-Wiedemann Syndrome	Intrauterine growth retardation, Short stature, Hypothyroidism, Ectopic thyroid	ORPHA:3206
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Genera...	OMIM:139210
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Cryptorchidism, Paten...	ORPHA:818
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Congenital diaphragmatic hernia, Aqueductal stenosis, Hydrocephalus, P...	OMIM:154400
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect, Cryptorchidism	OMIM:301040
Rubinstein-Taybi Syndrome 1	Accessory spleen, Ventricular septal defect, Spina bifida, Premature thelarche, Bilateral cryptor...	OMIM:180849
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Polyhydramnios, Hepatoblastoma, Atrial septal defect, Hepatomega...	OMIM:312870
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Cryptorchidism, Ventricular septal defect, Decreased testicular size	ORPHA:251028
Mosaic Trisomy 20	Abnormal mitral valve morphology, Cryptorchidism, Dysplastic tricuspid valve, Ventricular septal ...	ORPHA:1724
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect, Camptodactyly	OMIM:272950
Johanson-Blizzard Syndrome	Hepatic fibrosis, Atrial septal defect, Hypothyroidism, Hepatomegaly, Elevated circulating aspart...	OMIM:243800
Homozygous Familial Hypercholesterolemia	Hepatic steatosis, Precocious atherosclerosis, Abnormal internal carotid artery morphology, Tendo...	ORPHA:391665
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Atrial septal defect, Abnorma...	ORPHA:251014
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:619575
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v...	ORPHA:500095
Fanconi Anemia, Complementation Group C	Cryptorchidism, Flexion contracture, Ventricular septal defect, Hypergonadotropic hypogonadism	OMIM:227645
Opitz Gbbb Syndrome	Cryptorchidism, Ventricular septal defect	OMIM:300000
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Flexion contracture, Ventricular septal defect	OMIM:614653
Robinow Syndrome	Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Coarctation of aorta, Pulmo...	ORPHA:97360
Meier-Gorlin Syndrome 7	Ventricular septal defect, Complete atrioventricular canal defect, Cryptorchidism, Breast aplasia...	OMIM:617063
Esophageal Atresia	Ventricular septal defect, Polyhydramnios, Maternal diabetes, Coarctation of aorta, Tetralogy of ...	ORPHA:1199
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Tetral...	ORPHA:1519
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Limb hypertonia	OMIM:609460
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Cryptorchidism, Muscula...	OMIM:210710
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Annular pancreas, Patent for...	OMIM:616975
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:244450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious...	ORPHA:438213
Apert Syndrome	Cryptorchidism, Hydrocephalus, Overriding aorta, Ventricular septal defect	OMIM:101200
Autosomal Recessive Robinow Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Cryptorc...	ORPHA:1507
Jacobsen Syndrome	Ventricular septal defect, Spina bifida, Cryptorchidism, Annular pancreas, Coarctation of aorta, ...	ORPHA:2308
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Retroperitoneal fibrosis, Facial edema, Enlarged lacrimal glands, Thyr...	ORPHA:79078
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Holoprosencephaly, Patent forame...	OMIM:613884
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Cryptorchidism, Hydrocephalus, Ventricular septal defect	OMIM:102500
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Coarctation of aorta...	ORPHA:124
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Pulmo...	ORPHA:363700
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Ventricular septal defect, Precocious puberty, Splenomegaly, Hydrocephalus, Patent ...	OMIM:270400
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Cryptorchidism, Optic disc coloboma, Growth delay, Ciliary b...	OMIM:309800
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Cerebrocostomandibular Syndrome	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Elbow flexion contracture, A...	OMIM:117650
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Multinodular goiter	OMIM:618373
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage, Precocious puberty, Cryptorchidism, Patent ductus...	OMIM:616682
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypothyroidism,...	ORPHA:444077
Restrictive Dermopathy	Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Polyhydramnios, Aplasia/Hypop...	ORPHA:1662
Degcags Syndrome	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus...	OMIM:619488
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,...	OMIM:175050
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, At...	ORPHA:904
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ventricular septal defect, Abnormal pulmonary valve morphology, Decreased response to growth horm...	ORPHA:268261
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Polyhydramnios, Cryptorchidism, Pulmonary artery stenosis, Dilatation ...	ORPHA:459070
Larsen Syndrome	Ventricular septal defect, Cryptorchidism, Atrial septal defect, Spina bifida occulta, Aortic ane...	OMIM:150250
Marshall-Smith Syndrome	Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Patent ductus...	OMIM:602535
Femoral-Facial Syndrome	Ventricular septal defect, Maternal diabetes, Cryptorchidism, Pulmonic stenosis, Truncus arteriosus	OMIM:134780
Trichothiodystrophy	Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Cryptorchidism	ORPHA:33364
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coarctation of aorta, ...	OMIM:616145
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:123700
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Cryptorchidism, Hydrocephalus, Increased...	ORPHA:3472
Chromosome 16P13.3 Duplication Syndrome	Ventricular septal defect, Facial hypotonia, Cryptorchidism, Small thenar eminence, Camptodactyly...	OMIM:613458
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Sarcoidosis	Hepatomegaly, Hemolytic anemia, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T ...	ORPHA:797
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnor...	ORPHA:353281
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Bilateral cryptorchidism, Patent ductus...	OMIM:616268
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re...	OMIM:301044
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r...	ORPHA:96334
Zttk Syndrome	Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Atr...	OMIM:617140
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans...	OMIM:192350
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Camptoda...	OMIM:143095
Okamoto Syndrome	Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal...	ORPHA:2729
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta, Small thenar eminence, Atria...	OMIM:105650
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
Oculodentodigital Dysplasia	Ventricular septal defect, Camptodactyly of finger	ORPHA:2710
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios	OMIM:608670
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Supernumerary nipple, Cryptorchidism, Patent d...	OMIM:235730
Carpenter Syndrome 2	Dextrocardia, Supernumerary nipple, Situs inversus totalis, Bilateral cryptorchidism, Patent duct...	OMIM:614976
Cornelia De Lange Syndrome 1	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Elbow flexion contrac...	OMIM:122470
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Cryptorch...	OMIM:268300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect, Supernumerary nipple	ORPHA:1071
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hol...	OMIM:615948
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep...	OMIM:309500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus a...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus a...	ORPHA:353277
Peters-Plus Syndrome	Ventricular septal defect, Diastasis recti, Bilobate gallbladder, Polyhydramnios, Cryptorchidism,...	OMIM:261540
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Pal...	OMIM:619475
Keutel Syndrome	Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Ventricular septal defect, Pul...	OMIM:245150
Omodysplasia 1	Atrial septal defect, Cryptorchidism, Pulmonary artery stenosis, Ventricular septal defect	OMIM:258315
Williams-Beuren Syndrome	Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal...	OMIM:194050
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Multinodular goiter	OMIM:620189
Wolf-Hirschhorn Syndrome	Accessory spleen, Decreased muscle mass, Ventricular septal defect, Precocious puberty, Cryptorch...	OMIM:194190
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Flexion contracture, Bicuspid aortic valve	OMIM:271640
Penile Agenesis	Ventricular septal defect, Maternal diabetes, Cryptorchidism, Atrial septal defect, Oligohydramnios	ORPHA:49
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Lower-limb joint contracture, Ventricular septal defect, Pineal cyst	ORPHA:513456
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Early Infantile Epileptic Encephalopathy	Precocious puberty, Ventricular septal defect	ORPHA:1934
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Kabuki Syndrome 1	Ventricular septal defect, Premature thelarche, Cryptorchidism, Hydrocephalus, Coarctation of aor...	OMIM:147920
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypoplasia, Elbow flex...	OMIM:181450
Sotos Syndrome	Hip contracture, Ventricular septal defect, Ankle flexion contracture, Cryptorchidism, Patent duc...	ORPHA:821
Townes-Brocks Syndrome 1	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial septal defect...	OMIM:107480
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Genitopatellar Syndrome	Hip contracture, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Knee flexion contract...	OMIM:606170
Coffin-Siris Syndrome 1	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio...	OMIM:135900
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Cornelia De Lange Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Increased nuchal tran...	ORPHA:199
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Atrial sep...	OMIM:619522
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ...	ORPHA:261552
Pallister-Killian Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Congenital diaphragmatic hernia, Supernum...	OMIM:601803
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect	OMIM:620330
Yunis-Varon Syndrome	Absent nipple, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Hydrops fetalis, Cardio...	OMIM:216340
Dermatomyositis	Abnormal eosinophil morphology	ORPHA:221
Pmm2-Cdg	Elevated hepatic transaminase, Hepatic fibrosis, Impaired neutrophil chemotaxis, Abnormal liver p...	ORPHA:79318

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 Hhex

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 Hhex.

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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Hhex^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Hhex^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Hhex^{tm2a(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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