Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tolloid-like
Synonyms:
Tll-1,  b2b2476Clo

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 Tll1 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.

The table below shows human diseases associated to Tll1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Tll1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Cleft upper lip, Cleft palate, Right ao... OMIM:231060
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Sonoda Syndrome
Narrow mouth, Ventricular septal defect OMIM:270460
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Vascular dilatation, Impaired myocardial contractility, Congestive heart ... OMIM:600884
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... OMIM:253300
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Pulmonary arterial hypertension, Hypertensio... OMIM:600309
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term OMIM:618782
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Catel-Manzke Syndrome
Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Camptodactyly, Dextrocardia, Cle... OMIM:616145
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Abnormal left ventricular... OMIM:605362
Lethal Congenital Contracture Syndrome 10
Long philtrum, Narrow palate, Ventricular septal defect, Hypoplasia of the thymus, Torticollis, C... OMIM:617022
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Familial Atrial Myxoma
Pedal edema, Cardiac myxoma, Cholestasis, Tricuspid regurgitation, Jaundice, Pulmonic valve myxom... ORPHA:615
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Klippel-Trénaunay Syndrome
Atrial septal defect, Prolonged bleeding time, Hydrops fetalis, Gastrointestinal hemorrhage, Abno... ORPHA:90308
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Thin... OMIM:601927
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Atrial septal defect, Patent ductus arteriosus, Thin upper lip vermilion, Pulmoni... ORPHA:3304
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Patent ductus arter... OMIM:249670
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, Thin upper li... OMIM:617877
Double Outlet Right Ventricle
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Coarctation of aorta, Intestinal mal... ORPHA:3426
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart ... ORPHA:477817
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Ten... OMIM:616898
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Atrial septal defect, Abnormal heart morphology, Camptodactyly, Patent ductus arte... ORPHA:363444
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Mmep Syndrome
Oral cleft, Cryptorchidism, Median cleft lip, Ventricular septal defect ORPHA:3434
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology OMIM:617744
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Restrictive cardiomyopathy ORPHA:2022
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Left atrial enl... OMIM:608751
8P23.1 Duplication Syndrome
Long philtrum, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Adrenal insu... ORPHA:251076
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Ebstein Malformation Of The Tricuspid Valve
Atrial septal defect, Arrhythmia, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Pulmonic stenosis, Perimembranous ventricular septal... OMIM:611376
Cardiomyopathy, Familial Hypertrophic, 26
Mitral regurgitation, Left atrial enlargement, Congestive heart failure, Atrial fibrillation OMIM:617047
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Cam... OMIM:179613
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Ventricular tachycardia, Congestive heart failure, Edema, Dilated card... OMIM:605676
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Pulmonic stenosis, Aortic va... OMIM:220210
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Intestinal malrotation, Dextrocardia, Double outlet right ve... OMIM:605376
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Transaldolase Deficiency
Cirrhosis, Atrial septal defect, Hydrops fetalis, Premature skin wrinkling, Biventricular hypertr... ORPHA:101028
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase concent... OMIM:619048
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Cutis laxa, Tricuspid regurgitation, Short chordae tendineae of the mitral ... OMIM:314400
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Congestive heart failure, Hypertrophic cardiomyop... OMIM:618234
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:616198
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm, Striae distensae OMIM:604308
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Coarctation of aorta, Pulmonary artery hypoplasia, Tricuspid regurgitatio... OMIM:613426
Sandestig-Stefanova Syndrome
Camptodactyly, Oral cleft, Perimembranous ventricular septal defect, Muscular ventricular septal ... OMIM:618804
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Narrow mouth, Downturned corners of mouth, Abnormal aortic arch morphology, Arteri... ORPHA:1110
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Hypertension, D... OMIM:617021
14Q11.2 Microdeletion Syndrome
Long philtrum, Narrow mouth, Ventricular septal defect, High palate, Everted lower lip vermilion,... ORPHA:261120
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Fetal Minoxidil Syndrome
Cryptorchidism, Ventricular septal defect ORPHA:1918
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Smooth... OMIM:618316
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis OMIM:615542
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Ventricular septal defect, Autoimmune hemolytic anemia, Intestinal malrotation... OMIM:243150
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Hepatomegaly, Congestive heart fa... ORPHA:163596
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Ventricular septal defect OMIM:614876
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function, Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Tooth agenesis, Congenital... ORPHA:1166
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... ORPHA:99105
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Ectopic anus, Hypoplastic left heart, Cleft palate ORPHA:2476
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Intermittent claudication, Angina pecto... OMIM:264800
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Biliary atresi... OMIM:306955
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Short philtrum, Atrial septal defect, Ventricular septal defect, Thick lower lip vermilion, Widel... OMIM:608227
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Cardiomyopathy OMIM:613313
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect ORPHA:2515
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Tricuspid regurgitation, Hepatomegaly, Pulmonic stenosis, Cong... ORPHA:2414
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Feingold Syndrome 2
Intestinal atresia, Ventricular septal defect OMIM:614326
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Arterial... ORPHA:79094
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Pedal edema, Patent ductus arteriosus, Peripheral arterial stenosis, S... OMIM:126320
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Glossoptosis, Oral syne... ORPHA:1388
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate, Truncus arteriosus, Ventricular septal defect OMIM:601355
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Duode... ORPHA:3405
Heart Defects, Congenital, And Other Congenital Anomalies
Intestinal malrotation, Patent ductus arteriosus, Pancreatic hypoplasia, Microcolon, Pulmonary ar... OMIM:600001
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Pedal ... ORPHA:275766
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Open mouth, Ventricular septal defect, Myopathy, Increased variability in muscle ... OMIM:616816
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Congestive heart failure, Cardiomyopathy ORPHA:53296
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of aorta, Transp... OMIM:612474
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Cardiomegaly OMIM:618654
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth, Ventricular septal defect OMIM:618506
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascendin... OMIM:616166
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Atrial flutter, Atr... ORPHA:300751
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:225
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Coronary artery atherosclerosi... OMIM:613485
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Atrial septal defect, Monocytosis, Lymphopenia, Patent duct... OMIM:612541
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Median cleft palate, Atrioventricular canal defect, High palate, Conotr... ORPHA:40366
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot, Thin vermilion border ORPHA:3303
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Anal atresia, U-Shaped ... OMIM:612946
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Hemochromatosis, Type 2A
Cirrhosis, Arrhythmia, Hepatomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyop... OMIM:602390
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Pulmonic ste... OMIM:614300
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Congestive heart failure, Dilated cardiomyopathy, Hypertr... OMIM:302060
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Aortic regurgitation, Pulmona... ORPHA:2326
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Hydrops fetalis, Arteria lusoria, Tricuspid regurgitation, Edema, Mitral steno... OMIM:212093
American Trypanosomiasis
Arrhythmia, Hepatomegaly, Congestive heart failure, Edema, Myocarditis, Periorbital edema, Pallor... ORPHA:3386
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology DECIPHER:39
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Aortic regurgitation, Abnormal left ventricular function, Patent duc... OMIM:132900
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Hepatic steatosis, Hypertension, Myocardial infarction... OMIM:615703
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Patent ductu... ORPHA:229
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Neonatal death, Congestive heart failure OMIM:301021
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Congestive heart failure, Ascites, Cardiomegaly OMIM:269920
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Cryptorchidism, Atrial septal defect, Truncus arteriosus, Ventricular septal defec... ORPHA:401935
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Arteriovenous fistula, Cerebral arteriovenous malformation, Abnormal heart mor... ORPHA:137667
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Xk Aprosencephaly Syndrome
Anal atresia, Atrial septal defect, Narrow mouth, Ventricular septal defect ORPHA:3469
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ankyloglossia, Ventricular septal defect, Glossoptosis, Bilateral cl... OMIM:618021
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Downturned corners of mouth, Ventricular septal defect, Ectopic anus, Cleft palate ORPHA:94066
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Cleft palate ORPHA:217
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Endocardial fibroelastosis, Hepatic steatosis, Decreased carnitine... OMIM:212140
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Hepatomegaly, Tachycardia, Pallor, Hypertrophic cardiomyopathy, Syncope ORPHA:276556
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Premature skin wrinkling, Mitral valve calcification, Intracranial hemor... ORPHA:363618
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated hepatic transaminase, Patent ductus arteriosus, Cholelithiasis, Do... OMIM:614886
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
46,Xx Sex Reversal 5
Ventricular septal defect, Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Hypo... OMIM:618901
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Hypertension, Atrioventric... ORPHA:371428
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Hemochromatosis, Type 1
Cirrhosis, Arrhythmia, Elevated hepatic transaminase, Pleural effusion, Hepatocellular carcinoma,... OMIM:235200
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Prolonged QT interval, Cardiomegaly, Patent ... OMIM:601005
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Pleural effusion, Pedal edema, ... ORPHA:330001
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function,... ORPHA:367
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis ORPHA:2868
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:255160
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Sandhoff Disease
Hepatomegaly, Congestive heart failure, Cherry red spot of the macula ORPHA:796
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Methimazole Embryofetopathy
Ventricular septal defect, Hypothyroidism, Abnormal aortic morphology, Esophageal atresia, Abnorm... ORPHA:1923
Mulibrey Nanism
Myocardial fibrosis, Hydrops fetalis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Ascit... OMIM:253250
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Hypertension, Bicuspid aortic valve, Pulmonary ar... OMIM:613355
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, ... OMIM:619313
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Okamoto Syndrome
Oligohydramnios, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal heart morp... ORPHA:2729
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Hepatomegaly, Tachycardia, Pallor, Hypertrophic cardiomyopathy, Syncope ORPHA:276575
Filippi Syndrome
Cryptorchidism, Thin vermilion border, Short philtrum, Abnormality of dental morphology, Ventricu... OMIM:272440
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:618652
Apert Syndrome
Delayed eruption of teeth, Cryptorchidism, Narrow palate, Ventricular septal defect, Esophageal a... OMIM:101200
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Right aortic arch, Situs inversus totalis OMIM:617577
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Dilatation of the sinus of Valsalva, Heart murmur, Congestive heart failure... ORPHA:1054
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Hepatomegaly, Tachycardia, Pallor, Hypertrophic cardiomyopathy, Syncope ORPHA:276580
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Mitral Valve Prolapse 1
Mitral valve prolapse, Mitral regurgitation, Striae distensae OMIM:157700
Noonan Syndrome 8
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Pleural... OMIM:615355
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... OMIM:261740
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Duodenal atresia, Muscular ventricular septal defect, Tracheoesophageal fistu... OMIM:619227
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Hypothyroidism, Diaphragmatic eventration, Bilateral cryptorchidis... ORPHA:66634
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Truncus arteriosus, Ventricular septal defect OMIM:228940
Butyrylcholinesterase Deficiency
Myocardial infarction, Abnormal enzyme/coenzyme activity, Congestive heart failure, Abnormality o... ORPHA:132
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Arrhythmia, Oligohydramnios, Abnormal aortic valve morphology, Abnormal pulmonary valve morpholog... ORPHA:1194
Maternal Phenylketonuria
Long philtrum, Ventricular septal defect, Abnormal heart morphology, Esophageal atresia, Double o... ORPHA:2209
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Rheumatic Fever
Arrhythmia, Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve mo... ORPHA:3099
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Ventricular septal defect, Reticulocytopenia, Normoc... OMIM:615550
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Microphthalmia, Syndromic 12
Cryptorchidism, Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Classical-Like Ehlers-Danlos Syndrome Type 1
Arrhythmia, Gastrointestinal hemorrhage, Precocious atherosclerosis, Mitral valve prolapse, Bruis... ORPHA:230839
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Abnormal palate morph... ORPHA:261183
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect OMIM:300887
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Macroglossia, Hypochromic microcytic anemia, Ventricular septal defect, Protrudin... OMIM:301040
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Atrial septal defect, Congestive heart failure ORPHA:500533
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Abnormality of the dentition, Ventricular septal defect OMIM:616901
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Sudden cardiac death, Congestive ... OMIM:610198
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Abnormal aortic morphology, Cleft palate, High, na... ORPHA:2516
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Ventricular septal defect, Anal atresia, Congenital diaphragmatic hernia, O... OMIM:309801
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Ventricular septal defect ORPHA:83473
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Congestive heart failure, Hepati... OMIM:611126
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus OMIM:241310
Polymyositis
Arrhythmia, Pericarditis, Elevated aldolase level, Abnormal mitral valve morphology, Gastrointest... ORPHA:732
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure, Peripheral arteriovenou... ORPHA:141179
Li-Campeau Syndrome
Long philtrum, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Hypothyroidism, P... OMIM:619189
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid regurgitation, Aortic valve... ORPHA:324410
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Noonan Syndrome 12
Supravalvular aortic stenosis, Tetralogy of Fallot, Polyhydramnios, Ventricular septal defect OMIM:618624
Fetal Trimethadione Syndrome
Atrial septal defect, Ventricular septal defect, High palate, Tetralogy of Fallot, Transposition ... ORPHA:1913
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Palpitations, Atrial septal defect, Abnormal heart ... ORPHA:2847
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Polyhydramnios, Elevated hepatic transaminase, Ventricular septal defect, Abnormal left ventricul... OMIM:301056
Lymphedema-Distichiasis Syndrome
Arrhythmia, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Predominantly lower ... OMIM:153400
Arterial Calcification, Generalized, Of Infancy, 1
Generalized arterial calcification, Hypertension, Myocardial infarction, Congestive heart failure... OMIM:208000
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic regurgitation, Pulmonic stenosis, Aortic root aneurysm, Persistent... OMIM:609008
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Abnormal heart valve morphology, Hepatomegaly, Congestive heart failure, Decreas... OMIM:230500
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure, Peripheral arteriovenou... ORPHA:141184
8Q12 Microduplication Syndrome
Long philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Everted lower lip v... ORPHA:228399
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Absent gallbladder, Int... ORPHA:210122
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Mental Retardation, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse, Striae distensae OMIM:130020
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tented upper lip vermilion... OMIM:600987
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Tachycardia OMIM:613870
Wolcott-Rallison Syndrome
Atrial septal defect, Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Jaundic... ORPHA:1667
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Hepatitis, Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Pseudoxanthoma Elasticum, Forme Fruste
Peau d'orange, Gastrointestinal hemorrhage, Angina pectoris, Medial calcification of medium-sized... OMIM:177850
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Cleft upper lip, Ventricular septal defect OMIM:214300
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Oligohydramnios, Secundum atrial septal defect, Patent ductus arteriosus, Congestive heart failur... OMIM:616866
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Tricuspid regurgitation, Hepatic fibrosis, Portal ... OMIM:616589
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Paroxysmal at... ORPHA:392
Woods Syndrome
Thin vermilion border, Supernumerary nipple, Ventricular septal defect OMIM:615236
Polyvalvular Heart Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic v... ORPHA:228410
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Flexion contracture, Thick vermilion border, Perimembranous ventricular septal defect, Congenital... OMIM:618651
Classic Multiminicore Myopathy
Mitral valve prolapse, Congestive heart failure, Right ventricular hypertrophy, Right ventricular... ORPHA:324604
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Patent ductus arteriosus ORPHA:2863
Collagenoma, Familial Cutaneous
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... OMIM:115250
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Atrial situ... ORPHA:244
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Oligohydramnios, Ventricular septal defe... OMIM:606003
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse, Petechiae, Bruising susceptibility, Striae distensae OMIM:225310
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Narrow palate, Hashimoto thyroiditis, Patent ductus arteriosus, Pulmonic st... OMIM:618223
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Abnormal cerebral artery morphology, Myocar... ORPHA:90065
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Smooth phil... ORPHA:1727
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Prolonged bleeding after surgery, Prolonged bleeding time, Join... OMIM:193400
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Congestive heart failure OMIM:616794
Retinitis Pigmentosa 42
Pallor OMIM:612943
X-Linked Intellectual Disability, Nascimento Type
Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Pulmonary arterial hyperten... ORPHA:163956
Fabry Disease
Arrhythmia, Angina pectoris, Lymphedema, Hypertension, Myocardial infarction, Congestive heart fa... OMIM:301500
Renal Tubular Dysgenesis
Polyhydramnios, Tetralogy of Fallot, Oligohydramnios ORPHA:3033
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Congestive heart failure, Coronary artery calcification, Hypertension OMIM:614473
Warsaw Breakage Syndrome
High palate, Tetralogy of Fallot, Wide mouth, Ventricular septal defect OMIM:613398
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor ORPHA:46532
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Pulmonary edema, Prolonged QTc interval, Syncope, Cardiogenic shock, Decr... ORPHA:66529
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Pleural effusion, Paten... OMIM:616564
Trigonocephaly With Short Stature And Developmental Delay
Broad secondary alveolar ridge, High palate, Ventricular septal defect OMIM:314320
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Patent ductus arter... OMIM:618974
Aase-Smith Syndrome I
Cleft palate, Flexion contracture, Open mouth, Ventricular septal defect OMIM:147800
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic dissection, Mucoid extracellular matrix accumulation, Aortic aneurysm, Myxomatous mitral v... OMIM:130090
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Endocardial fibrosis, Left ventricular hyp... OMIM:612158
Storm Syndrome
Mitral valve calcification, Aortic valve stenosis, Excessive wrinkling of palmar skin, Early prog... OMIM:185069
Joubert Syndrome 18
Camptodactyly, Ventricular septal defect OMIM:614815
Autosomal Dominant Cutis Laxa
Premature skin wrinkling, Abnormal heart valve morphology, Redundant skin, Cutis laxa, Pulmonic s... ORPHA:90348
Noonan Syndrome 11
Palmoplantar cutis laxa, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:618499
Tyshchenko Syndrome
Cryptorchidism, Atrial septal defect, Narrow palate, Ventricular septal defect, Pulmonic stenosis... OMIM:615102
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Refsum Disease, Classic
Congestive heart failure, Cardiomegaly, Cardiomyopathy, Arrhythmia OMIM:266500
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Increased circulating lactate dehydrogenase con... ORPHA:99901
African Iron Overload
Micronodular cirrhosis, Abnormal heart morphology, Viral hepatitis, Hepatic steatosis, Hepatocell... ORPHA:139507
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Pulmonar... OMIM:608406
Hypertelorism And Tetralogy Of Fallot
Patent foramen ovale, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, Paten... OMIM:239711
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Ventricular septal defect OMIM:619083
Burn-Mckeown Syndrome
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Hypomimic face, Ventri... OMIM:608572
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Cerebral berry aneurysm, Hypertension, Mitral valve prolapse, Mitral regurgitation OMIM:173900
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Solitary median maxillary central incisor, M... OMIM:301043
Lambert Syndrome
Wide mouth, Ventricular septal defect ORPHA:1296
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Tetralogy of Fallot, Anal atresia, Abnormal palate morphology ORPHA:1381
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Prominent veins on trunk, Hepatic steatosis, Hypertension, Coronary artery atheroscler... ORPHA:79083
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism, Muscular ventricular septal defect, Intrinsic hand muscle atrophy OMIM:618569
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Restrictive cardio... ORPHA:758
Retinitis Pigmentosa 60
Pallor OMIM:613983
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Abnormal heart morphology, Patent ductus arteriosus, ... ORPHA:391641
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts OMIM:263630
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, High palate, Ventricular septal defect ORPHA:3369
Primary Lipodystrophy
Cirrhosis, Angina pectoris, Hepatic steatosis, Hypertension, Type IV atherosclerotic lesion, Cong... ORPHA:90970
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Ventricular septal defect, Reticulocytopenia, Leukopenia, Macrocytic anemia OMIM:612528
Short Stature And Facioauriculothoracic Malformations
Cleft palate, High palate, Cleft upper lip, Ventricular septal defect OMIM:609654
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis OMIM:611884
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Coronary artery atherosclerosis, Atherosclerosis, Hepatomegaly, Congestive hea... ORPHA:2348
Mcdonough Syndrome
Cryptorchidism, Short philtrum, Atrial septal defect, Diastasis recti, Ventricular septal defect,... OMIM:248950
Oculoauriculofrontonasal Syndrome
Narrow mouth, Ventricular septal defect, Cleft lip, Cleft palate, Broad philtrum ORPHA:398156
15Q14 Microdeletion Syndrome
Long philtrum, Short philtrum, Atrial septal defect, Ventricular septal defect, Smooth philtrum, ... ORPHA:261190
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Ao... ORPHA:2306
Giant Cell Arteritis
Arrhythmia, Pericarditis, Aortic dissection, Epistaxis, Sudden cardiac death, Double outlet right... ORPHA:397
Retinitis Pigmentosa 81
Pallor OMIM:617871
Serkal Syndrome
Malrotation of small bowel, Ventricular septal defect, Oral cleft, Pulmonic stenosis, Congenital ... ORPHA:139466
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Diabetic Embryopathy
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Cleft palate, Abnormality ... ORPHA:1926
Optic Atrophy 8
Mitral valve prolapse, Mitral regurgitation OMIM:616648
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus OMIM:601450
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Prolonged prothrombin time, Ventricular septal defect OMIM:616559
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Hydrops fetalis, Elevated hepatic transaminase, Cholestasis, Congestive heart failure... OMIM:609015
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hepatomegaly, Jaundice... ORPHA:290
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Kawasaki Disease
Arrhythmia, Pericarditis, Abnormal heart valve morphology, Cholecystitis, Palmoplantar erythema, ... ORPHA:2331
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Elevated hepatic transaminase, Pleural effusion, Abnormal pericardium ... ORPHA:67
Muscular Dystrophy, Duchenne Type
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Optic Atrophy 9
Pallor OMIM:616289
Syndromic Diarrhea
Atrial septal defect, Thrombocytosis, Ventricular septal defect, Abnormal heart morphology, Hypot... ORPHA:84064
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Hypertension, Cholestasis, Pulmonic s... OMIM:610205
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Increased overbite, Ventricular septal defect OMIM:618504
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Aortic aneurysm, Redundant skin, Hypertension, Telangiectasia... ORPHA:3342
Spondylocostal Dysostosis 4, Autosomal Recessive
Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus totalis OMIM:613686
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Microscopic Polyangiitis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Epistaxis, Erythema, Congestive heart fail... ORPHA:727
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Coarctation of aor... ORPHA:284169
Ritscher-Schinzel Syndrome 2
Cryptorchidism, Short philtrum, Atrial septal defect, Ventricular septal defect, Camptodactyly, P... OMIM:300963
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Purpura, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Hype... ORPHA:183
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Situs inversus totalis OMIM:615482
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
Angioosteohypertrophic Syndrome
Gastrointestinal hemorrhage, Lymphedema, Telangiectasia of the skin, Pulmonary embolism, Congesti... ORPHA:2346
Chromosome 16P13.3 Duplication Syndrome
Camptodactyly, Atrial septal defect, Ventricular septal defect OMIM:613458
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Atrial septal defect, Elevated hepatic transaminase, Giant cell hepatitis, Ven... OMIM:208085
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Edema, Polyhydramnios, Ventricular septal defect OMIM:607598
Meacham Syndrome
Cryptorchidism, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, ... ORPHA:3097
Dextrocardia
Situs inversus totalis, Congenital malformation of the great arteries, Abnormal heart morphology,... ORPHA:1666
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Oral cleft, Tetralogy of Fallot, Overriding aorta, Absent gallbladder, Median cleft lip ORPHA:3186
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Camptodactyly, Hypoplasia of the thymus, Joint contrac... OMIM:214110
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Arrhythmia, Joint swelling, Hepatocellular carcinoma, Elevated jugular venous pressure... ORPHA:465508
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Thiamine... OMIM:249270
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... ORPHA:1120
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis,... OMIM:601808
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Cutis laxa, Redundant skin, Peripheral pulmonary artery st... ORPHA:90349
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Ventricular septal defect, Wide mouth, Pulmonic stenosis, Hypertrophic card... OMIM:615279
Noonan Syndrome 2
Polyhydramnios, Atrial septal defect, Abnormal coronary artery origin, Ventricular septal defect,... OMIM:605275
German Syndrome
Cryptorchidism, Camptodactyly of finger, Arthrogryposis multiplex congenita, Open mouth, Everted ... ORPHA:2077
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse, Mitral regurgitation, Elevated circulating alkaline phosphatase concentration OMIM:606631
Retinitis Pigmentosa 27
Macular edema, Pallor OMIM:613750
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cryptorchidism, Ventricular septal defect, Absent pulmonary artery, Coarctation of aorta, Patent ... OMIM:600460
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating alkaline phosphatase concentration, Congestive heart failure, Hepatic steato... ORPHA:52430
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Excessive wrinkled skin, Arteriovenous malformation ORPHA:137608
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Dextrocardia, Abnormal tricuspid valve morphology ORPHA:1759
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Oligohydramnios, Biliary cirrhosis, Patent ductus a... OMIM:267010
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse, Mitral regurgitation, Bruising susceptibility, Aortic regurgitation OMIM:225320
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Aortic dissection, Vascular dilatation, Arterial dissection, Congestive heart ... ORPHA:1900
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Short philtrum, Drooling, Ventricular septal defect, Hypogonadism, High palate, T... ORPHA:3306
Congenital Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Congestive heart failure, Prominent superficial veins... ORPHA:528
Seckel Syndrome 10
Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase concent... OMIM:617253
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Abnormal bleeding, Cirrhosis, Atrial septal defect, Elevated hepatic transaminase,... OMIM:614576
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Atrial septal defect, Pallor, Ventricular septal defect OMIM:609053
Immune-Mediated Necrotizing Myopathy
Palpitations, Congestive heart failure, Raynaud phenomenon, Myocarditis ORPHA:206569
Gm1 Gangliosidosis
Hydrops fetalis, Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, ... ORPHA:354
Roifman Syndrome
Long philtrum, Noncompaction cardiomyopathy, Downturned corners of mouth, Ventricular septal defe... OMIM:616651
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... ORPHA:488618
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Lower limb hypertonia, Neutropenia, Abnorm... OMIM:169400
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Aortic regurgit... ORPHA:402075
Weill-Marchesani Syndrome
Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis, Ventricular septal defect ORPHA:3449
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Long philtrum, Atrial septal defect, Ventricular septal defect, Abnormality of the anterior pitui... ORPHA:75389
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Absent gallbladder, Polysplenia, Abnormal perica... ORPHA:1335
Fragile X Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm ORPHA:908
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Abnormality of the philtrum, Abnormality of the dentition ORPHA:276422
Cap Myopathy
Aortic root aneurysm, Mitral valve prolapse, Sinus tachycardia, Reduced systolic function ORPHA:171881
Nephrotic Syndrome, Type 11
Ventricular septal defect, Smooth philtrum, Cleft lip, Cleft palate, Dilated cardiomyopathy, High... OMIM:616730
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Long philtrum, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Thin upper li... ORPHA:508498
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Situs inversus totalis OMIM:615067
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Stillbirth, Oligohydramnios, Cholestasis, Hepatic fib... OMIM:615415
Aphalangy With Hemivertebrae
Ventricular septal defect OMIM:207620
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Johnson Neuroectodermal Syndrome
Carious teeth, Ventricular septal defect, Patent ductus arteriosus, Facial palsy, Cleft palate, H... OMIM:147770
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Hypertension, Hepatic cysts OMIM:613095
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft lip and palate, Cleft upper lip, Ventricular septal defect OMIM:601357
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Congenital muscular torticollis, Ectopic anus, Anal atresia, Cleft palate ORPHA:2345
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Situs inversus totalis OMIM:618063
Char Syndrome
Short philtrum, Ventricular septal defect, Everted lower lip vermilion, Patent ductus arteriosus,... ORPHA:46627
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Autoimmune hemolytic anemia, Intestinal malrotation, Hashimoto thyroid... ORPHA:436252
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
Mental Retardation, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Conotruncal defect OMIM:243440
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Pulmonary valve defects... ORPHA:1600
Cednik Syndrome
Congestive heart failure ORPHA:66631
Emanuel Syndrome
Long philtrum, Delayed eruption of primary teeth, Atrial septal defect, Truncus arteriosus, Crypt... OMIM:609029
Optic Atrophy 1
Pallor OMIM:165500
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Hepatic failure, Predominantly lower limb lymphedema ORPHA:261519
Hardikar Syndrome
Elevated hepatic transaminase, Ventricular septal defect, Patent ductus arteriosus, Hepatomegaly,... OMIM:612726
Shashi-Pena Syndrome
Atrial septal defect OMIM:617190
Lambotte Syndrome
Narrow mouth, Ventricular septal defect OMIM:245552
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618142
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Redundant neck skin, P... ORPHA:2519
Thanatophoric Dysplasia
Polyhydramnios, Atrial septal defect, Redundant skin, Patent ductus arteriosus, Increased nuchal ... ORPHA:2655
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Angina pectoris, Precocious atherosclerosis, Myocardia... OMIM:176670
Noonan Syndrome With Multiple Lentigines
Arrhythmia, Bundle branch block, Abnormal mitral valve morphology, Abnormal endocardium morpholog... ORPHA:500
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Protruding ton... OMIM:612938
Velocardiofacial Syndrome
Cryptorchidism, Right aortic arch with mirror image branching, Open mouth, Ventricular septal def... OMIM:192430
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Bicuspid aortic valve, Patent ... OMIM:619149
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Eosinophilia, B lymphocytop... OMIM:603554
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism, Short philtrum, Atrial septal defect, Open mouth, Ventricular septal defect, Camp... OMIM:301039
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Single ventricle, Stillbirth, Erythema OMIM:308050
Chromosome 14Q11-Q22 Deletion Syndrome
Long philtrum, Cryptorchidism, Narrow mouth, Ventricular septal defect, Patent ductus arteriosus,... OMIM:613457
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Chronic hepatic failure, Tricuspid regurgitation, Cholestasis, Congestive heart failu... ORPHA:746
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Smooth philtrum, Ventricular septal defect OMIM:602501
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema, Mitral valve prolapse, Pulmonary lymphangiectasia OMIM:247410
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Tricuspid regurgitation, Coarctation of aorta OMIM:618929
Poland Syndrome
Dextrocardia OMIM:173800
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Camptodactyly, Thi... OMIM:617360
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology OMIM:614294
Multiple Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Elevated hepatic transaminase, Abnormal heart morphology, Increased circulating lacta... ORPHA:26791
Thanatophoric Dysplasia Type 2