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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
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
Papillary thyroid carcinoma, Euthyroid multinodular goiter OMIM:138800
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
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, Thyroid carcinoma, Increased T3/T4 ratio, Goiter OMIM:274700
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Increased circulating free T3, Goiter OMIM:188570
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter OMIM:228355
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Hypothyroidism, Congenital, Nongoitrous, 1
Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy... OMIM:275200
Hypothyroidism, Congenital, Nongoitrous, 5
Ectopic thyroid, Congenital hypothyroidism, Thyroid hypoplasia, Hypothyroidism OMIM:225250
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial... OMIM:601493
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... OMIM:604169
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Decreased circulating free T4 level, Inappropriately ... OMIM:301035
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Chorioretinal coloboma, Holoprosencephaly, Anophthalmia, Iris coloboma, Bilateral... OMIM:611638
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... OMIM:618164
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Microcephaly OMIM:617228
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1R
Left ventricular hypertrophy, Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricula... OMIM:613424
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Elevated... OMIM:613759
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology OMIM:615373
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Double outlet right ventricle, Joint contracture of the hand, Patent d... OMIM:179613
Rhabdomyosarcoma, Embryonal, 2
Multinodular goiter, Thyroid nodule, Ovarian thecoma, Goiter OMIM:180295
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter OMIM:274300
Solitary Median Maxillary Central Incisor
Microphthalmia, Short stature, Holoprosencephaly, Anophthalmia, Cyclopia, Anterior hypopituitaris... OMIM:147250
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... OMIM:612158
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Blepharochalasis And Double Lip
Goiter OMIM:109900
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... OMIM:618845
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation, Intrahepatic biliary atresia, Branchi... ORPHA:1296
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Adrenal hypoplasia, ... OMIM:220210
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... OMIM:253300
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Cranioacrofacial Syndrome
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis OMIM:122850
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferas... OMIM:614876
Fadd-Related Immunodeficiency
Ventricular septal defect, Hepatic fibrosis, Decreased liver function, Cerebral atrophy, Pulmonar... ORPHA:306550
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:615297
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... OMIM:618316
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Umbilical hernia, Increased radioactive iodine uptake, Decreas... ORPHA:95716
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy, Microcephaly, Abnormal cerebral white ... OMIM:614947
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Gray matter heterotopia, Cryptorchidism, Hypoplasia of the corpus c... OMIM:164180
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Patent ductus arteriosus, Atrial septal defect, Hy... OMIM:614886
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... ORPHA:3304
Double Outlet Right Ventricle
Ventricular septal defect, Hypoparathyroidism, Truncus arteriosus, Double outlet right ventricle,... ORPHA:3426
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Severe short stature, Abnormally large globe, Cerebr... OMIM:210740
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Anomalous pulmona... ORPHA:185
Permanent Congenital Hypothyroidism
Goiter, Short stature, Hypothyroidism, Thyroid dysgenesis, Umbilical hernia, Jaundice ORPHA:226292
Congenital Hypothyroidism
Prolonged neonatal jaundice, Goiter, Short stature, Abnormal pericardium morphology, Hypogonadism... ORPHA:442
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Microphthalmia, Growth delay, Holoprosencephaly, Anophthalmia, Iris co... ORPHA:77298
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Wolcott-Rallison Syndrome
Hepatomegaly, Central hypothyroidism, Ascites, Double outlet right ventricle, Abnormality of the ... ORPHA:1667
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Cryptorchidism, Tetralogy of Fallot OMIM:615542
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Microcephaly ORPHA:3434
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia, Chorioretinal coloboma, Iris coloboma OMIM:616428
Indomethacin Embryofetopathy
Ventricular septal defect, Cardiomyopathy, Oligohydramnios, Atrial septal defect, Hydrops fetalis ORPHA:1909
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter, Dilation of ... OMIM:616816
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus OMIM:616501
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Feingold Syndrome Type 2
Ventricular septal defect, Microcephaly ORPHA:391646
Walker-Warburg Syndrome
Abnormal cortical gyration, Abnormality of neuronal migration, Microphthalmia, Anophthalmia, Abse... ORPHA:899
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Mitral atresia, Doub... OMIM:306955
Feingold Syndrome 2
Secondary microcephaly, Ventricular septal defect OMIM:614326
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Elevated circulating thyroid-s... ORPHA:226313
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Hydranencephaly, Truncus arteriosus, Microcephaly OMIM:601355
Microphthalmia, Syndromic 3
Ventricular septal defect, Microphthalmia, Short stature, Hypothalamic hamartoma, Anophthalmia, H... OMIM:206900
Fetal Minoxidil Syndrome
Ventricular septal defect, Cryptorchidism ORPHA:1918
Hydrolethalus
Arrhinencephaly, Microphthalmia, Anencephaly, Anophthalmia, Absent septum pellucidum, Hydrocephal... ORPHA:2189
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Papillary thyroid carcinoma, Nodular goiter, Goiter ORPHA:319487
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Microcephaly ORPHA:2515
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Megalencephaly, Polymicrogyria, Hydrocephalus, Abnormal cardiac septum... ORPHA:83473
Meckel Syndrome, Type 8
Anophthalmia, Short neck, Microphthalmia, Microcephaly OMIM:613885
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... OMIM:614980
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Ventricular septal defect, Oligohydramnios, Patent ductus arteriosus OMIM:617021
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Hepatomegaly, Ventricular septal defect, Abnormal aortic arch morphology... ORPHA:860
Holoprosencephaly
Abnormality of neuronal migration, Iris coloboma, Aplasia/Hypoplasia of the corpus callosum, Hydr... ORPHA:2162
8P23.1 Duplication Syndrome
Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot, Pulmonic stenosis ORPHA:251076
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mi... ORPHA:1354
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Ventricular septal defect, Congenital hypothyroidism, Growth delay, Short sta... ORPHA:209905
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Microphthalmia, Anophthalmia, Cryptorchidism OMIM:615524
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... ORPHA:477817
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Giant cell hepatitis, Right ventricular hypertrophy, Arthrogryposis mu... OMIM:208085
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Porencephalic cyst, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Thyroid hyperplasia, Goiter OMIM:609152
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Neonatal death, Left ventricular hypertrophy, Secondary mic... OMIM:619167
Cockayne Syndrome Type 2
Hepatomegaly, Intrauterine growth retardation, Anophthalmia, Delayed eruption of primary teeth, M... ORPHA:90322
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Hepatomegaly, Ventricular septal defect, Double outlet right ventricle,... OMIM:301056
Genetic Transient Congenital Hypothyroidism
Goiter, Umbilical hernia, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulatin... ORPHA:226316
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Coarctation of aorta, Pulmonary artery hypoplasia,... OMIM:613426
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Portal fibrosis, Coarctation of aorta, Pulmonic stenosis, Decreased live... OMIM:614300
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Growth delay, Goiter, Neoplasm of the adrena... ORPHA:163634
Primary Ciliary Dyskinesia
Asplenia, Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, ... ORPHA:244
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Microphthalmia, Anophthalmia, Abnormality of the hypothalamus-pituitary a... ORPHA:139471
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Microcephaly, Polyhydramnios ORPHA:3469
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly of finger ORPHA:1388
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Limited neck flexion, Goiter, Hypothyroidism, Abnormal cerebral white matter morphology, Hashimot... ORPHA:83601
Phenobarbital Embryopathy
Tetralogy of Fallot, Microcephaly, Abnormal mitral valve morphology ORPHA:1919
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Giant cell hepatitis, Right ventricular hypertrophy, Arthrogryposis mu... OMIM:613404
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Goiter, Situs inversus totalis, Right aortic arch, Hypothyroidism OMIM:617577
Trisomy 13
Ventricular septal defect, Microphthalmia, Intrauterine growth retardation, Anophthalmia, Cystic ... ORPHA:3378
Coffin-Siris Syndrome 10
Ventricular septal defect, Microcephaly OMIM:618506
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Iris coloboma ORPHA:1104
Myxedema
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Goiter OMIM:255900
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Congenital diaphragmatic hernia, Microceph... ORPHA:1166
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Pallister-Hall Syndrome
Ventricular septal defect, Intrauterine growth retardation, Microphthalmia, Short stature, Holopr... OMIM:146510
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Double outlet right vent... ORPHA:371428
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
1Q21.1 Microduplication Syndrome
Cryptorchidism, Tetralogy of Fallot, Arthrogryposis multiplex congenita, Hydrocephalus ORPHA:250994
Primary Non-Essential Cutis Verticis Gyrata
Microcephaly, Ventricular septal defect, Atrial septal defect, Periventricular leukomalacia ORPHA:357225
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... OMIM:614262
Microphthalmia, Syndromic 5
Microphthalmia, Short stature, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Coloboma, Ec... OMIM:610125
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Jaundice OMIM:234350
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Papillary thyroid carcinoma, Nodular goiter, Goiter ORPHA:97290
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Anemia, Nodular regenerative hyperplasia of liver, Splenome... ORPHA:64743
Hadziselimovic Syndrome
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Hy... OMIM:612946
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do... OMIM:605376
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Hepatic fibrosis, Asplenia, Situs ... OMIM:615415
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Hypoplastic left heart, Anencephaly ORPHA:2476
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Hypothyroidism, Crypto... OMIM:619189
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia, Dextrocardia OMIM:221950
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Hypoplasia of the corpus callosum, Occipital cortical atrophy ORPHA:411986
X-Linked Mandibulofacial Dysostosis
Short stature, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomal... ORPHA:1131
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenos... OMIM:615355
Atrial Standstill
Skeletal muscle atrophy, Abnormal heart morphology, Cardiomyopathy, Muscular dystrophy, Flexion c... ORPHA:1344
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot, Decreased response to growth hormone stimulation ... OMIM:618624
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Igg4-Related Thyroid Disease
Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g... ORPHA:64744
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Neonatal death OMIM:228940
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth retardation, Atrioventricul... ORPHA:453499
Microgastria-Limb Reduction Defects Association
Arrhinencephaly, Asplenia, Biliary tract abnormality, Anophthalmia, Splenogonadal fusion, Absent ... OMIM:156810
Diabetic Embryopathy
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ... ORPHA:1926
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Abnormal ascending aorta morphology, Truncus ar... ORPHA:2299
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Intrauterine growth retardation, Goiter, Splenomega... ORPHA:525731
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Splenomegaly, Atrial septal de... ORPHA:290
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Ascites, Restrictive cardiomyopathy, Pulmonic stenosis, Hydrops fetalis OMIM:619433
Transaldolase Deficiency
Biventricular hypertrophy, Edema, Coarctation of aorta, Cirrhosis, Hepatosplenomegaly, Atrial sep... ORPHA:101028
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Abdominal situs ambiguus, Asce... OMIM:270100
Renal Tubular Dysgenesis
Oligohydramnios, Tetralogy of Fallot, Microcephaly, Polyhydramnios ORPHA:3033
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Hypothyro... OMIM:601005
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Filippi Syndrome
Cryptorchidism, Ventricular septal defect, Microcephaly OMIM:272440
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Ventricular septal defect, Atrial septal defect, Patent ductus... OMIM:618974
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Growth delay, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thy... ORPHA:90674
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis, A... OMIM:618223
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Hydrocele testis, Patent ductus arteriosus, Atrial sept... OMIM:601927
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, C... ORPHA:401935
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Truncus arteriosus, Hepatic fibrosis OMIM:616589
Maternal Phenylketonuria
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Coarctation ... ORPHA:2209
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Megalencephaly, Thick corpus c... OMIM:603387
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus, Microcephaly ORPHA:2516
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Edema, Arthrogryposis... OMIM:607598
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Ascites, Edema, Cardiomyopathy, Arthrogryposis multiplex congenita, Poly... OMIM:232500
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Hypoplasia of the corpus call... OMIM:300887
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect OMIM:616901
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Megalencephaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyria OMIM:602501
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... ORPHA:99819
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis ORPHA:2868
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Nephronophthisis 16
Hypertrophic cardiomyopathy, Hepatic fibrosis, Situs inversus totalis, Patent ductus arteriosus, ... OMIM:615382
Thyroid Lymphoma
Hashimoto thyroiditis, Hyperthyroidism, Goiter, Hypothyroidism ORPHA:97285
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Coarctation of aorta, Micronodular cir... OMIM:606003
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Bilateral cryptorchidism, Atri... OMIM:618652
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Hepatomegaly, Ventricular septal defect, Peau d'orange, Patent ductus... OMIM:614576
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Septo-optic dysplasia, Colpocephaly, Double outlet right ventricle, Se... OMIM:301043
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Hypointensity of cerebral white matter on MRI, Peripheral pulmonary ar... ORPHA:163956
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Hepatic cysts, Stillbirth, Polyhydramnios, Atrial septal defect OMIM:263630
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Isolated Dandy-Walker Malformation
Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot ORPHA:217
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Delpire-Mcneill Syndrome
Ventricular septal defect, Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Camptodactyly OMIM:613458
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Cryptorchidism, Hypoplasia of... OMIM:218350
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Joint contracture of the hand, Spina bifida, Camptodactyly, Small thenar e... OMIM:211960
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Failure of eruption of permanent teeth, Hypoplasia of the olfactory bulb, Anophth... ORPHA:2250
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... ORPHA:261183
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertro... ORPHA:284169
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Pedal edema, Peripheral arte... OMIM:126320
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... ORPHA:3384
Trisomy 1Q
Ventricular septal defect, Anophthalmia, Cystic hygroma, Increased nuchal translucency, Hydroceph... ORPHA:261344
Pendred Syndrome
Hypothyroidism, Thyroid carcinoma, Hyperparathyroidism, Goiter ORPHA:705
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... OMIM:603471
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Patent ductus arteri... ORPHA:500159
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Cryptorchidism, Severe postnatal growth retardation, Microcephaly ORPHA:435938
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ectopic thyroid, Ventricular septal defect, Atrioventricular canal defect, Thyroid hypoplasia, Pa... ORPHA:3047
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology, Polyh... ORPHA:3405
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Patent ductus art... OMIM:609029
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Microcephaly ORPHA:2772
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Edema, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Micr... ORPHA:90308
Diamond-Blackfan Anemia 6
Ventricular septal defect, Mitral valve prolapse, Ventricular hypertrophy, Patent ductus arterios... OMIM:612561
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Ventricular septal defect, Abnormality of mesentery morphology, Polyhydramnios ORPHA:2256
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... ORPHA:424
Vacterl With Hydrocephalus
Arrhinencephaly, Intrauterine growth retardation, Microphthalmia, Anophthalmia, Spina bifida, Hyd... ORPHA:3412
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Goiter OMIM:613239
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Thyroid hypoplasi... ORPHA:90673
Fetal Trimethadione Syndrome
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Tetralogy o... ORPHA:1913
Leigh Syndrome With Leukodystrophy
Hypertrophic cardiomyopathy, Ventricular septal defect, Focal T2 hyperintense basal ganglia lesion ORPHA:255241
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating free T3, Growth delay, Thyroid hypoplasia, Pituitary hypothyroidism, Decrea... ORPHA:99832
Tyshchenko Syndrome
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Cryptorchidis... OMIM:615102
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Patent ductus arteriosus, Pachygyria, Exocrine pancreatic insufficienc... ORPHA:452
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Double outlet right ventricle, Hypogonadotropic hypogonadism, Pulmonary a... ORPHA:2326
Branchiootorenal Syndrome 1
Euthyroid goiter, Abnormal cerebral morphology, Branchial cyst, Branchial fistula OMIM:113650
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Partial agenesis of the corpus callosum, Ventricular septal defect, Trun... OMIM:617478
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Abnormal heart morphology, Atrial septal defect, Tetralogy of... OMIM:614954
Holoprosencephaly 9
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Microphthalmia, Short statur... OMIM:610829
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Double outlet left ventricle, Patent ductus arteriosus, Congenital defect ... ORPHA:2255
Craniofacial Microsomia
Ventricular septal defect, Microphthalmia, Anophthalmia, Branchial anomaly, Hydrocephalus, Tetral... OMIM:164210
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Ascending tubular aorta... ORPHA:3092
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... OMIM:108900
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Cardiac Diverticulum
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... ORPHA:1686
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Asplenia, Annular pancreas, Atrioventricular ca... ORPHA:210122
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Coarctation of aorta, Polyhydramnios, Abno... ORPHA:1923
Meckel Syndrome
Microphthalmia, Lobar holoprosencephaly, Anencephaly, Pancreatic cysts, Cystic liver disease, Asp... ORPHA:564
Meckel Syndrome, Type 4
Meningocele, Ventricular septal defect, Anencephaly, Bile duct proliferation, Atrial septal defec... OMIM:611134
Hypertelorism And Tetralogy Of Fallot
Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, S... OMIM:239711
46,Xx Sex Reversal 5
Increased serum testosterone level, Ventricular septal defect, Aplasia of the left hemidiaphragm,... OMIM:618901
Serkal Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, Abnormality of the... ORPHA:139466
Mccune-Albright Syndrome
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... ORPHA:562
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Macroglossia, Patent ductus arteriosus, H... OMIM:612938
Joubert Syndrome 18
Ventricular septal defect, Camptodactyly OMIM:614815
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Right ventricular hypertrophy, Progressive microcephaly, Atrial septal... OMIM:614261
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Lissencephaly, Microce... OMIM:618142
Mcdonough Syndrome
Ventricular septal defect, Pulmonic stenosis, Diastasis recti, Atrial septal defect, Cryptorchidi... OMIM:248950
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Cockayne Syndrome Type 1
Hepatomegaly, Elevated hepatic transaminase, Anophthalmia, Delayed eruption of primary teeth, Mal... ORPHA:90321
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Hip contracture, Splenomeg... OMIM:616651
Meacham Syndrome
Bicuspid aortic valve, Neonatal death, Aplasia of the left hemidiaphragm, Patent ductus arteriosu... OMIM:608978
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Secondary microcephaly, Ventricular septal defect ORPHA:3369
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Small cerebral cortex, Atrial septal defect, Camptodactyly, Hypoplasia... OMIM:617360
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Pancreatic hypoplasia, Aplasia of the left hemidiaphragm, Double outlet left ... OMIM:600001
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... ORPHA:1461
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cryptorchidism, Hypoplasia of the corpus cal... OMIM:613457
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Abnormal heart morphology, Optic ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Abnormal heart morphology, Optic ... ORPHA:352665
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Congenital diaphragmatic ... OMIM:601186
Phace Association
Ventricular septal defect, Congenital hypothyroidism, Lingual thyroid, Coarctation of aorta, Anom... OMIM:606519
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Holoprosencephaly, Thyroid hypoplasia, Cyclopia, Abnormality of the hypothalamus-... ORPHA:2166
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Thyroid hypoplasia, Decreased circulating follicle stimulating hormone concentration, Reduced rad... ORPHA:226307
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Splenomegaly, Hydrocephalus, Cholestas... OMIM:615630
Progeroid Facial Appearance With Hand Anomalies
Oligohydramnios, Tetralogy of Fallot, Prominent superficial veins, Joint contracture of the 5th f... OMIM:602249
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Situs inversus totalis, T... ORPHA:1908
Lambotte Syndrome
Ventricular septal defect, Semilobar holoprosencephaly, Microcephaly OMIM:245552
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Polyhydramn... OMIM:608149
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Abnormality of the spleen, Arrhinencephaly, Hepatomegaly, Microphthal... ORPHA:2538
Prune Belly Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, O... ORPHA:2970
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Macroglossia, Edema, Coar... ORPHA:363705
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Atr... ORPHA:488618
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Colpocephaly, Dextrotransposition of the great ... OMIM:618619
German Syndrome
Arthrogryposis multiplex congenita, Tetralogy of Fallot, Abnormal cardiac septum morphology, Camp... ORPHA:2077
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Pineal cyst, Dysplastic... OMIM:300967
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:615279
Charge Syndrome
Intrauterine growth retardation, Chorioretinal coloboma, Short stature, Microphthalmia, Holoprose... ORPHA:138
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Ventricular septal defect, Basal ganglia necrosis, Basal... ORPHA:79243
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Abnormal heart morphology, Congenital diaphragmatic hernia, Aplasia of the... ORPHA:2847
Pentalogy Of Cantrell
Ventricular septal defect, Anencephaly, Congenital diaphragmatic hernia, Absent gallbladder, Atri... ORPHA:1335
Charge Syndrome
Arrhinencephaly, Dysplastic tricuspid valve, Retinal coloboma, Decreased response to growth hormo... OMIM:214800
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Diabetes... OMIM:249270
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Anaplastic Thyroid Carcinoma
Broad neck, Anaplastic thyroid carcinoma, Nodular goiter, Goiter ORPHA:142
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Atrial septal defect, Contractures of the interphalangeal joint of the... OMIM:613870
Graves Disease, Susceptibility To, 1
Graves disease, Goiter OMIM:275000
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Ventricular septal defect, Absent septum pellucidum OMIM:601357
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Coarctation of aor... OMIM:616564
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Rhizomelia, Coloboma, Precocious puberty OMIM:615877
Congenital Gerbode Defect
Constrictive pericarditis, Ventricular septal defect, Bacterial endocarditis, Right ventricular h... ORPHA:99095
Hypothyroidism, Congenital, Nongoitrous, 2
Ectopic thyroid, Congenital hypothyroidism, Growth delay, Goiter, Thyroid hypoplasia, Elevated ci... OMIM:218700
Lymphedema-Distichiasis Syndrome
Lymphedema, Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Tetralogy of Fal... OMIM:153400
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Atrial septal defect, Microcephaly, Coarctation of aorta OMIM:600987
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Camptodactyly, Cryptor... OMIM:300963
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Goiter, Limb muscle weakness, Facial ... ORPHA:254892
Noonan Syndrome 2
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrioventricular canal defect, Abnormal c... OMIM:605275
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Diabetes mellitus ORPHA:49827
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Atrioventricular canal defect, Congenita... ORPHA:251071
Meacham Syndrome
Abnormality of the spleen, Ventricular septal defect, Conotruncal defect, Congenital diaphragmati... ORPHA:3097
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Hypogonadotropic hypogonadism, Facial palsy, Patent ductus arteriosus,... OMIM:147770
Cowden Syndrome 1
Goiter, Hemimegalencephaly, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Ovarian carcinoma, Th... OMIM:158350
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Congenital hypothyroidism, Patent ductus arteriosus, Atrial septal def... ORPHA:2519
Acrocardiofacial Syndrome
Ventricular septal defect, Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Hyperthyroi... ORPHA:2008
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Abdominal situs inversus, Asplenia, Atrioventricular canal defect, Pul... OMIM:619123
Woods Syndrome
Ventricular septal defect, Supernumerary nipple OMIM:615236
Phace Syndrome
Ectopic thyroid, Lens coloboma, Microphthalmia, Abnormal heart morphology, Optic nerve hypoplasia... ORPHA:42775
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Transposition of the great arteries, Hypoplas... ORPHA:1727
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Probst bundles, ... OMIM:612863
Oculoauriculofrontonasal Syndrome
Pericallosal lipoma, Ventricular septal defect, Microcephaly ORPHA:398156
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Patent ductus art... ORPHA:96170
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Ventricular septal defect, Microcephaly OMIM:617164
Kapur-Toriello Syndrome
Ventricular septal defect, Dysplastic corpus callosum, Patent ductus arteriosus, Pachygyria, Tetr... ORPHA:2328
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Diastasis recti, Ventricular septal defect, Polyhydramnios ORPHA:254534
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... ORPHA:91347
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Hypogonadism, Tetralogy of Fallot, Cryptorchidism, Precocious puberty,... ORPHA:3306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Skeletal muscle atrophy, Holoprosencephaly, Lissencephaly, Congenital mus... OMIM:253800
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Poly... ORPHA:3071
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Agenesis of corpus callosum ORPHA:93267
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... ORPHA:1457
Microphthalmia, Syndromic 2
Dextrocardia, Adrenal insufficiency, Ventricular septal defect, Microphthalmia, Mitral valve prol... OMIM:300166
Medullary Thyroid Carcinoma
Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, Elevated calcitonin, Ph... ORPHA:1332
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Patent ductus arteriosus, Splenomegaly, Hepatosplenomegaly, Varicose veins... OMIM:602782
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Microcephaly, Patent ductus arteriosus OMIM:613680
King-Denborough Syndrome
Ventricular septal defect, Minicore myopathy, Weakness of facial musculature, Muscle fiber atroph... OMIM:619542
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... OMIM:617300
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Cavum septum pellucid... ORPHA:329224
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ventricular septal defect, Interface hepatitis, Polyhydramnios, Hypoplasia of the thymus OMIM:243150
Myopathy With Extrapyramidal Signs
Hepatomegaly, Ventricular septal defect, Perisylvian polymicrogyria, Hypoplastic anterior limbs o... OMIM:615673
Aase-Smith Syndrome I
Ventricular septal defect, Hydrocephalus, Flexion contracture OMIM:147800
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Annular pancreas, Aplasia/Hypoplasia of the panc... ORPHA:2470
Weill-Marchesani Syndrome
Ventricular septal defect, Aortic valve stenosis, Pulmonic stenosis ORPHA:3449
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Torticollis, Hypoplasia of the thymus, Cardiomegaly, Oligohydramnios, ... OMIM:617022
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... ORPHA:99125
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... ORPHA:2306
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Decreased serum insulin-like gro... OMIM:614921
Alstrom Syndrome
Dilated cardiomyopathy, Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Short stature... OMIM:203800
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Absent septum pellucidum, Patent ductus arteriosus, Increased nuchal t... OMIM:618870
Distal Monosomy 15Q
Bicuspid aortic valve, Abnormal aortic arch morphology, Decreased serum insulin-like growth facto... ORPHA:1596
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect, Congenital muscular torticollis ORPHA:2345
Hypoplastic Left Heart Syndrome
Maternal diabetes, Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left he... ORPHA:2248
Desbuquois Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of... ORPHA:1425
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary v... ORPHA:2184
Holt-Oram Syndrome
Ventricular septal defect, Abnormal aortic morphology, Atrioventricular canal defect, Patent duct... ORPHA:392
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:608406
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atr... OMIM:613001
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Coarctation of aorta, Overriding aorta, Camptodactyly, C... OMIM:616145
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Abnormality of the anterior pituitary, Posterior pituitary hypoplasia,... ORPHA:75389
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Ascites, Hydrops fetalis, Cardiomegaly, P... OMIM:616897
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal... OMIM:610205
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Asplenia, Endocardial fibroelastosis, Hydrops fetalis, P... ORPHA:99776
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect, Polyhydramnios, Aplasia/Hypoplasia of the cor... OMIM:616920
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Increased circulating gonadotropin level, Atrial septal defect, Cerebr... OMIM:301030
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Persistent left sup... OMIM:618775
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Skeletal muscle atrophy, Cerebral white matter atrophy, Knee flexion c... ORPHA:435638
Frank-Ter Haar Syndrome
Ventricular septal defect, Mitral valve prolapse, Double outlet right ventricle, Atrial septal de... OMIM:249420
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Cardiac-Urogenital Syndrome
Dextrocardia, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductus arteriosus, Ac... OMIM:618280
Noonan Syndrome 9
Ventricular septal defect, Coarctation of aorta, Cryptorchidism, Pulmonic stenosis OMIM:616559
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Pineal cyst, Truncus arteriosus, Patent ductus arteriosus, Cryptorchidism OMIM:617516
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
Giant Cell Arteritis
Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Diabetes insipidus, Double outlet rig... ORPHA:397
Carney Complex, Type 1
Cardiac myxoma, Thyroid follicular hyperplasia, Thyroid carcinoma, Pituitary adenoma, Elevated ci... OMIM:160980
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Neoplasm of the adrenal gland, Cholangiocarcinoma, Goiter, Eruption ... ORPHA:733
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Atrioventricular canal defect, Abnor... ORPHA:7
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... ORPHA:99050
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Microcephaly OMIM:609654
Thyroid Ectopia
Ectopic thyroid, Growth delay, Short stature, Hypothyroidism, Abnormality of the thyroid gland, U... ORPHA:95712
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... OMIM:108800
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Hydrocephalus, Vascular dilatation, Polyhydramnios OMIM:219730
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Aplasia/Hypoplasia of the corpus call... ORPHA:2143
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Growth delay, Septo-optic dysplasia, Holoprosencephaly, Decreased respo... ORPHA:95494
14Q22Q23 Microdeletion Syndrome
Diabetes insipidus, Short stature, Anophthalmia, Abnormality of the hypothalamus-pituitary axis, ... ORPHA:264200
Kawasaki Disease
Myocarditis, Ascending tubular aorta aneurysm, Pericarditis, Double outlet right ventricle with s... ORPHA:2331
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Ascites, Polyhydramnios, Spl... OMIM:235255
Seckel Syndrome 9
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Simplifi... OMIM:616777
Carpenter Syndrome 1
Ventricular septal defect, Polysplenia, Joint contracture of the hand, Patent ductus arteriosus, ... OMIM:201000
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Microphthalmia With Limb Anomalies
Anophthalmia, Postnatal growth retardation, Microphthalmia, Growth delay OMIM:206920
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Hydrocele testis, Edema, Chylothorax, Facial edema, Genital e... OMIM:616843
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Edema, Microcephaly OMIM:618348
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Macroglossia, Coarctation of aorta, Cerebral cortical atrophy, Subcortical ce... ORPHA:96147
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Colpocephaly, Absent septum pellucidum, Atrial septal defect, Hypothyr... OMIM:609053
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Cryptorchidism OMIM:618504
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Abnormal corpus call... ORPHA:457279
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia OMIM:614435
Gm1 Gangliosidosis
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Cherry red spot ... ORPHA:354
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Patent ductus arteriosus, Misa... OMIM:265380
Adams-Oliver Syndrome
Pulmonary artery atresia, Ascites, Congenital hepatic fibrosis, Cirrhosis, Porencephalic cyst, Te... ORPHA:974
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Branchial fistula, Webbed neck, Tricuspid valve prolapse, Optic disc c... ORPHA:261337
Multiple Endocrine Neoplasia Type 1
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... ORPHA:652
Fibular Hemimelia
Anophthalmia, Abnormal heart morphology, Spina bifida ORPHA:93323
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, H... OMIM:121050
Kapur-Toriello Syndrome
Ventricular septal defect, Joint contracture of the hand, Patent ductus arteriosus, Pachygyria, A... OMIM:244300
Sotos Syndrome
Partial agenesis of the corpus callosum, Ventricular septal defect, Patent ductus arteriosus, Cav... OMIM:117550
Proboscis Lateralis
Ventricular septal defect, Chorioretinal coloboma, Microphthalmia, Holoprosencephaly, Anophthalmi... ORPHA:141099
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... OMIM:264480
Cowden Syndrome 7
Hashimoto thyroiditis, Papillary thyroid carcinoma, Goiter, Ductal carcinoma in situ OMIM:616858
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Diamond-Blackfan Anemia 7
Ventricular septal defect, Patent ductus arteriosus, Polyhydramnios, Tetralogy of Fallot, Secundu... OMIM:612562
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Arthrogryposis multiplex congenita, Hepatic steatosis, Atrial septal d... ORPHA:254346
Burn-Mckeown Syndrome
Ventricular septal defect, Hypomimic face, Atrial septal defect OMIM:608572
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Facial hypotonia, Periventricular leukomalacia, Microcep... OMIM:618798
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Mitral valve prolapse, Arteria lusoria, Edema, Mitral stenosis, Tricuspid valv... OMIM:212093
Focal Dermal Hypoplasia
Hypoplastic nipples, Myelomeningocele, Umbilical hernia, Short stature, Ectopia lentis, Chorioret... OMIM:305600
Cowden Syndrome 5
Goiter, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Ovarian cyst, Hydrocele te... OMIM:615108
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ventricular septal defect, Congenital hypothyroidism, Gonadotropin deficiency, Elevated circulati... OMIM:610978
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity OMIM:616166
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Microphthalmia, Growth delay, Mitral valve p... ORPHA:2556
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Hypogonadism, Hydrocep... OMIM:300514
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spina bifida occulta, Transposition of the great arteries, Perimembranous ventricular septal defe... OMIM:617877
Brachydactyly, Type B1
Ventricular septal defect, Joint contracture of the hand, Camptodactyly OMIM:113000
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Hepatomegaly, Hepatic fibrosis, Peripheral pulm... ORPHA:84064
Warsaw Breakage Syndrome
Ventricular septal defect, Tetralogy of Fallot, Microcephaly OMIM:613398
15Q14 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Microcephaly ORPHA:261190
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus OMIM:614779
Porphyria Cutanea Tarda
Abnormal erythrocyte enzyme level, Elevated hepatic iron concentration, Hepatocellular carcinoma,... ORPHA:101330
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Tricuspid valve pr... OMIM:609942
Cowden Syndrome 6
Goiter, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Ovarian cyst, Hydrocele te... OMIM:615109
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Hydrocephalus OMIM:314390
Cerebrooculonasal Syndrome
Anophthalmia, Hypoplasia of the corpus callosum, Hydrocephalus OMIM:605627
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal testis morphology, Hyperthyro... ORPHA:457059
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Hypoplastic nipples, Anencephaly, Ascites, Holoprosencep... OMIM:269860
Severe X-Linked Intellectual Disability, Gustavson Type
Dilation of lateral ventricles, Ventricular septal defect, Contractures of the large joints, Micr... ORPHA:3078
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Transposition of the great arteries, Cryptorchidism, Patent foramen ovale OMIM:616789
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Hypoparathyroidism, Mitral valve prolapse, Lymphedema OMIM:247410
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Decreased circulating renin level, Left ven... OMIM:615474
Mosaic Trisomy 1
Pulmonary artery atresia, Ventricular septal defect, Congenital diaphragmatic hernia, Hepatic age... ORPHA:1692
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Coarctation of aorta, Camptodactyly of finger, Pulmo... ORPHA:2876
Char Syndrome
Ventricular septal defect, Patent ductus arteriosus, Supernumerary nipple ORPHA:46627
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot OMIM:600123
Thoracoabdominal Syndrome
Ectopia cordis, Anencephaly, Congenital diaphragmatic hernia, Patent ductus arteriosus, Transposi... OMIM:313850
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia, Tricuspid valve prolapse, Cryptorchidism, Umbilical hernia ORPHA:1101
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Macroglossia, Cardiomegaly, Patent ductus arteriosus, Pr... ORPHA:96191
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Partial agenesis of the corpus callosum, Ventricular septal defect, Dysplastic corpus callosum, D... OMIM:619103
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial... OMIM:610733
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... OMIM:610338
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Thyroid hypoplasia, Mitral atresia, Subvalvular aortic stenosis, Hepatosplenomeg... OMIM:619503
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Abnormal corona... ORPHA:980
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... ORPHA:99094
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Increased serum insulin-like growth factor 1, Atrial septal defect, Di... OMIM:270450
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Atrial septal defect, Flexion contracture, Cryptorchidism, Hypoplasia ... OMIM:617452
Distal Trisomy 5Q
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, M... ORPHA:96097
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Ventricular septal defect, Pericardial effusion, Joint contracture of the hand, Pleur... OMIM:235510
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Atrial septal defect OMIM:145420
Ogden Syndrome
Ventricular septal defect, Torticollis, Cerebral atrophy, Pulmonary artery stenosis, Cryptorchidism ORPHA:276432
Codas Syndrome
Ventricular septal defect, Extrahepatic biliary duct atresia ORPHA:1458
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, R... OMIM:619371
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Macroglossia, Abnormal heart morphology, Camptodactyly, Cryptorchidism... ORPHA:369891
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventricular septal defect, Limb joint contracture, Atrial septal defect, Aplasia/Hypoplasia of th... ORPHA:505237
Filippi Syndrome
Cryptorchidism, Ventricular septal defect, Microcephaly, Supernumerary nipple ORPHA:3255
Chromosome 18Q Deletion Syndrome
Ventricular septal defect, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Patent duct... OMIM:601808
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Microc... ORPHA:457193
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Transpos... ORPHA:1780
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Atrial septal defect, Cryptorchidism, Patent foramen ovale, Microcephaly OMIM:618950
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Agenesis of corpus callosum, Patent ductus arteriosus ORPHA:52055
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Microcephaly, Hypoplasia of the thymus ORPHA:40366
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Aortic root aneurysm, Atrial septal defect, Camptodactyly, Cryptorchidism OMIM:301039
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Ventricular septal defect, Hypoplasia of the corpus callosum, Cryptorc... ORPHA:494344
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Pulmonic stenosis, P... OMIM:100300
Viss Syndrome
Left aortic arch with retroesophageal right subclavian artery, Tortuous cerebral arteries, Aortic... OMIM:619472
Fraser Syndrome 1
Abnormal cortical gyration, Myelomeningocele, Anophthalmia, Abnormal heart morphology, Bilateral ... OMIM:219000
Spondylo-Ocular Syndrome
Ventricular septal defect, Facial hypotonia ORPHA:85194
Bohring-Opitz Syndrome
Ventricular septal defect, Hyperechogenic pancreas, Polyhydramnios, Atrial septal defect, Flexion... OMIM:605039
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Peripheral pulmonary artery stenosis, Atrial septal defe... ORPHA:52
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Mitral valve prolapse, Hypothyroidism, Lymphedema ORPHA:1563
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Pericardial effusion, Atrial sep... ORPHA:26793
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Increased circulating cortisol level, Medullary thyroid carcinoma, Hyperparathy... OMIM:171400
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, H... OMIM:612582
Zellweger Syndrome
Hepatomegaly, Ventricular septal defect, Primary adrenal insufficiency, Polymicrogyria, Hepatic f... ORPHA:912
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Cooper-Jabs Syndrome