Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dynein, axonemal, heavy chain 11
Synonyms:
b2b1289Clo,  b2b598Clo,  lrd,  Dnahc11,  b2b1279Clo,  b2b1727Clo,  b2b1203Clo,  avc4

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 Dnah11 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 Dnah11 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Dnah11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Chronic rhinitis, De... OMIM:611884
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Heterotaxy, Visceral, 2, Autosomal
Mesocardia, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Double outlet right ven... OMIM:605376
Ciliary Dyskinesia, Primary, 25
Sinusitis, Immotile cilia, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskines... OMIM:615482
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Chronic rhinitis, Reduced forced expiratory volume in one second, Decre... OMIM:618300
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis OMIM:601322
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurre... OMIM:608644
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:615451
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Dextrocardia, ... OMIM:615067
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... OMIM:615504
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusi... OMIM:300991
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Dextrocardia, Double outlet right ventricle, Bronchiectasis, Cough,... OMIM:618254
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... OMIM:615505
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Decreased nasal nitric oxide, Cough, Dextrocardia, Situs inversus totalis, Abdominal situs invers... OMIM:619607
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Asthma, Dextroc... OMIM:616037
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... OMIM:614874
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615500
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Ciliary Dyskinesia, Primary, 16
Chronic rhinitis, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis, Abnormal ciliary mo... OMIM:614017
Ciliary Dyskinesia, Primary, 17
Chronic rhinitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recur... OMIM:614679
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Pulmonary artery hy... OMIM:616749
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis... OMIM:613193
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Nephronophthisis 16
Enlarged kidney, Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmonic stenosis, Polycyst... OMIM:615382
Ciliary Dyskinesia, Primary, 9
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Situs inversus totalis, Bronchi... OMIM:612444
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615444
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Heterotaxy, Cough, Situs inversus totalis, Bronchiectasi... OMIM:613807
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Dextrocardia, Situs inversus totalis ORPHA:66630
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Double outlet r... OMIM:217095
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic ... OMIM:185500
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Ciliary Dyskinesia, Primary, 2
Sinusitis, Immotile cilia, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskines... OMIM:606763
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Ciliary dyskinesia, Situs inversus totalis, Chronic sinusitis OMIM:612518
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:614935
Ciliary Dyskinesia, Primary, 38
Cough, Dextrocardia, Situs inversus totalis, Bronchiectasis, Rhinitis, Neonatal respiratory distr... OMIM:618063
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:608647
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Dextrocardia, Rhinorrhea, Situs inversus totalis, Bronchiectasis, Right aortic ... OMIM:617577
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Hy... ORPHA:860
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Polycystic kidney dysplasia, Recurrent urinary tract infect... OMIM:613095
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventr... OMIM:306955
Laterality Defects, Autosomal Dominant
Heterotaxy, Asplenia, Situs inversus totalis OMIM:601086
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Chronic bronchitis, Cough, Situs inversus totalis, Bronchiectasis, Ciliary d... OMIM:613808
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia, Ventricul... OMIM:613759
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Cough, Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections... OMIM:617092
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Immotile cilia, Ciliary dyskinesia, Bronchiectasis OMIM:616481
Mirror Movements 3
Situs inversus totalis OMIM:616059
Bardet-Biedl Syndrome 8
Renal dysplasia, Hypospadias, Situs inversus totalis OMIM:615985
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Restrictive ventilatory defect, Dextrocardia, Situs inversus totalis, Vertebral ... OMIM:613686
Genitopalatocardiac Syndrome
Micrognathia, Double outlet right ventricle, Right aortic arch, Ventricular septal defect, Transp... OMIM:231060
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Total anomalous pulmonary venous return, Patent ductus arteriosus, Double... OMIM:270100
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Respiratory failure, Situs inversus... OMIM:602088
Cardiac Diverticulum
Tricuspid atresia, Pulmonary artery hypoplasia, Premature ventricular contraction, Dextrocardia, ... ORPHA:1686
Hypoglossia With Situs Inversus
High palate, Situs inversus totalis, Microglossia, Upper airway obstruction, Asplenia, Respirator... OMIM:612776
Primary Ciliary Dyskinesia
Double outlet right ventricle, Productive cough, Wheezing, Anomalous pulmonary venous return, Int... ORPHA:244
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart, Micrognathia OMIM:601348
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Decreased nasal nitric oxide, Intestinal malrotation, Chronic sinusitis, Situs inversus totalis, ... OMIM:619608
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Meacham Syndrome
Accessory spleen, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Patent ductus ... OMIM:608978
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Pulmonic stenosis, Abdominal situs inversus, Asplenia, Ventricular septal defect, Atrio... OMIM:619123
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs inversus totalis, Pul... OMIM:615415
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Colonic Atresia
Colonic atresia, Duodenal stenosis, Abdominal situs inversus, Abnormality of mesentery morphology... ORPHA:1198
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Pulmonic stenosis, Obstructive sleep apnea, Mandibu... OMIM:609008
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Abno... ORPHA:1354
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide OMIM:615872
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Pulmonic stenosis, Restrictive cardiomyopathy, Death in infancy, Tricusp... OMIM:619433
Ciliary Dyskinesia, Primary, 43
Chronic rhinitis, Bronchiectasis, Productive cough, Abdominal situs inversus, Neonatal respirator... OMIM:618699
Meckel Syndrome, Type 7
Biliary cirrhosis, Portal hypertension, Multiple glomerular cysts, Patent ductus arteriosus, Panc... OMIM:267010
Dextrocardia
Intestinal malrotation, Pancreatic hypoplasia, Congenital malformation of the great arteries, Dex... ORPHA:1666
Pierre Robin Syndrome
Neonatal respiratory distress, Upper airway obstruction, Cor pulmonale, Micrognathia OMIM:261800
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Meacham Syndrome
Tetralogy of Fallot, Pulmonary sequestration, Horseshoe kidney, Aplasia/Hypoplasia of the lungs, ... ORPHA:3097
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Isomerism, Atrioventricular canal defect, Hydronephrosis, Transposition of the g... OMIM:314390
Atrioventricular Septal Defect 3
Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... OMIM:600309
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Patent ductus arteriosus, Thoracic aortic aneurysm, Atrial septal defect, Dextrotran... OMIM:619657
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Microphthalmia, Syndromic 9
Renal malrotation, Hydronephrosis, Single ventricle, Ventricular septal defect, Right aortic arch... OMIM:601186
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacit... OMIM:619436
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Pectus excavatum, Ventricular se... ORPHA:261243
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Lipedema
Edema OMIM:614103
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Biliary cirrhosis, Ureteral atresia, Patent ductus arteriosus, Pancreatic cysts,... OMIM:208540
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Partial atrioventricular canal defect, ... ORPHA:1330
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect OMIM:614474
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Bilateral renal agenesis, ... OMIM:618845
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis OMIM:249270
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial... OMIM:601493
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Hypoplastic left heart, Ventricular septal defect, Anomalous origin of left ... ORPHA:99050
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Respiratory failure, Proximal amyo... OMIM:253300
Congenital Absence Of Upper Arm And Forearm With Hand Present
Congenital malformation of the great arteries, Abnormal heart morphology, Abnormal lung morpholog... ORPHA:294975
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Situs inversus totalis, Bronchiectasis, Recurrent br... OMIM:244400
Poland Syndrome
Hypoplasia of serratus anterior muscle, Unilateral oligodactyly, Unilateral absence of pectoralis... OMIM:173800
8p23.1 deletion syndrome
Atrial septal defect, Abnormal heart morphology, Atrioventricular canal defect DECIPHER:39
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology, Recurrent respiratory infections OMIM:617744
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Patent duc... OMIM:610338
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Systolic heart murmur, Tricuspid atresia, Atrial septal defect, Partial anom... OMIM:617478
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Multicystic kidney dysplasia, Cardiomyopa... ORPHA:1909
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Aplasia/Hypoplasia of the thumb, Situs inversus totalis, Micrognathia, Micro... ORPHA:1908
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Aortic regurgitation, Pulmonary artery hypoplasia, Pulmonary insufficienc... ORPHA:2326
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Ventric... ORPHA:1461
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, Patent foramen ovale, Patent duct... OMIM:619343
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Restrictive... OMIM:613424
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Micrognathia OMIM:221950
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesi... OMIM:612649
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Intestinal malrotation, Hepatomegaly, Dextrocardia, Duodenal... ORPHA:1759
Double Outlet Right Ventricle
Tetralogy of Fallot, Intestinal malrotation, Heterotaxy, Tachypnea, Double outlet right ventricle... ORPHA:3426
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Agnathia-Otocephaly Complex
Tracheomalacia, Situs inversus totalis, Micrognathia, Mandibular aplasia, Secundum atrial septal ... OMIM:202650
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Atelectasis OMIM:616726
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Vascular dilatation, Polycystic kidney dysplasia OMIM:614859
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral a... ORPHA:2248
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Coarctation of aorta, Pulmonic stenosis OMIM:614300
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Abnormal heart valve morphology, Pulmonic stenosis OMIM:126190
Primary Pulmonary Hypoplasia
Restrictive ventilatory defect, Patellar hypoplasia, Hypoxemia, Asthma, Abnormal breath sound, Ne... ORPHA:2257
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Micrognathia, Ventricular septal defect, Transposition... ORPHA:1913
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Bronchiolitis, Abnormality of the kidney, Recurrent respiratory infec... OMIM:615993
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Left ventricular noncompaction cardiomy... OMIM:604169
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beati... OMIM:617091
Congenital Alveolar Capillary Dysplasia
Hypoplastic left heart, Duodenal stenosis, Ventricular septal defect, Atrioventricular canal defe... ORPHA:210122
Ciliary Dyskinesia, Primary, 6
Sinusitis, Abnormal ciliary motility, Recurrent sinusitis, Ciliary dyskinesia OMIM:610852
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
Meckel Syndrome
Anophthalmia, Ureteral duplication, Pancreatic cysts, Accessory spleen, Situs inversus totalis, M... ORPHA:564
Bardet-Biedl Syndrome 17
Renal cyst, Micropenis, Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney di... OMIM:615994
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Arterial intimal fibrosi... OMIM:178600
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Ciliary Dyskinesia With Excessively Long Cilia
Immotile cilia, Sinusitis, Airway obstruction, Chronic rhinitis, Ciliary dyskinesia OMIM:242680
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve, Aortic root aneurysm OMIM:618496
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Atrial septal defect, Abnormally large globe, Knee flexion contracture, ... OMIM:603387
Microphthalmia, Syndromic 12
Anophthalmia, Congenital diaphragmatic hernia, Microphthalmia, Ventricular septal defect, Pulmona... OMIM:615524
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Nephrocalcinosis, Jaundice, Giant cell hepatitis, Ventricular septal defe... OMIM:613404
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy, Abnormal left ventricle morphology OMIM:615373
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Diabetic Embryopathy
Tetralogy of Fallot, Ureteral duplication, Renal hypoplasia/aplasia, Micropenis, Hydronephrosis, ... ORPHA:1926
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Abnormal... OMIM:601612
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Patent ductus arteriosus, Dextrocardia, Micrognathia, Camptodactyly of... ORPHA:2863
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Accessory spleen, Micropenis, Dysplastic tricuspid... OMIM:618280
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibroelastosis, Cardiomyocyte... OMIM:612158
Meckel Syndrome, Type 1
Renal agenesis, Abnormality of the ureter, Patent ductus arteriosus, Accessory spleen, Bile duct ... OMIM:249000
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Sinusitis, Immotile cilia, Chronic rhinitis, Ciliary dysk... OMIM:242670
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Aortic root aneurysm, Congestive heart failure, Abnormal coronar... ORPHA:3400
Seckel Syndrome 9
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Pulmonary arte... OMIM:616777
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Chronic rhinitis, Bronchiectasis OMIM:618801
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephrocalcinosis, Atrial septal defect, Jaundice, Giant cell hepatitis, V... OMIM:208085
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia OMIM:215520
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger, Optic disc hypoplasia DECIPHER:70
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Respiratory distress, Situs inversus totalis ORPHA:990
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Rowley-Rosenberg Syndrome
Aminoaciduria, Recurrent pneumonia, Cor pulmonale, Right ventricular hypertrophy OMIM:268500
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Tetralogy of Fallot, Perineal hypospadias, Microphallus OMIM:615542
Alagille Syndrome 2
Tetralogy of Fallot, Atrial septal defect, Peripheral pulmonary artery stenosis, Pulmonic stenosi... OMIM:610205
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect OMIM:615272
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619048
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Renal hypoplasia, Respiratory failure, Ventricular septal defect, Truncus arteriosus,... OMIM:228940
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Nephropathy, Renotubular dysgenesis, Pulmonary hypopla... ORPHA:3033
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, Atrioventricular c... OMIM:265380
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Micropenis, Microphthalmia, Right ventricular hypertro... ORPHA:335
Weill-Marchesani Syndrome
Mitral regurgitation, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Single ventricle, Ventricular septal defect, Cardiomegaly, Whee... ORPHA:95430
Hadziselimovic Syndrome
Tetralogy of Fallot, Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, V... OMIM:612946
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Missing ribs, Atrial septal defect, Double outlet right ventricle, Pulmonic ... OMIM:220210
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Hydronephrosis, Hypoplastic left heart, Ventricular septal defect, Displacem... ORPHA:1727
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double outlet right ventricl... OMIM:179613
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Pyloric Atresia
Congenital pyloric atresia, Polyhydramnios OMIM:265950
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Mal... ORPHA:79301
Pentalogy Of Cantrell
Renal agenesis, Tetralogy of Fallot, Absent gallbladder, Abnormal pericardium morphology, Atrial ... ORPHA:1335
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse,... OMIM:173900
Fetal Minoxidil Syndrome
Ventricular septal defect, Micrognathia ORPHA:1918
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... OMIM:263200
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Pulmonic stenosis, Mitral valve prolapse, Tricuspid ... ORPHA:228410
Progressive Non-Infectious Anterior Vertebral Fusion
Scoliosis, Abdominal situs inversus, Hemivertebrae, Kyphosis ORPHA:2062
Stromme Syndrome
Accessory spleen, Hydronephrosis, Optic nerve hypoplasia, Microphthalmia, Bilateral renal hypopla... OMIM:243605
Catel-Manzke Syndrome
Overriding aorta, Dextrocardia, Coarctation of aorta, Micrognathia, Ventricular septal defect, Ca... OMIM:616145
Congenital Total Pulmonary Venous Return Anomaly
Respiratory failure requiring assisted ventilation, Apneic episodes in infancy, Mixed total anoma... ORPHA:99125
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Bicuspid... OMIM:619149
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Aortic an... OMIM:614980
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Double... OMIM:618316
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Abnormal heart morphology, Trismus, Micrognathia OMIM:218450
Ciliary Dyskinesia, Primary, 12
Chronic sinusitis, Ciliary dyskinesia, Chronic rhinitis, Bronchiectasis OMIM:612650
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Noonan Syndrome 9
Coarctation of aorta, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Noonan Syndrome 8
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pleural effusion, Pu... OMIM:615355
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Myopathy, Cardiomyopathy, Elevated hepatic transaminase, Cardio... OMIM:617713
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Trisomy 13
Anophthalmia, Abnormality of the ureter, Patent ductus arteriosus, Atrial septal defect, Hydronep... ORPHA:3378
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, 11 pairs of ribs, Pulmonic stenosis, Anterior open-bite malocclusion, Obstr... OMIM:617877
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Tricuspid atresia, Atrial septal defect, Dextrocardia, Co... OMIM:264480
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Mitral valve prolapse OMIM:614676
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Horseshoe kidney, Atrial septal defect, Micropenis, Muscular ventricul... ORPHA:363444
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Familial Visceral Myopathy
Abdominal situs inversus, Aganglionic megacolon, Cleft palate ORPHA:2604
Chromosome 15Q25 Deletion Syndrome
Pectus excavatum, Dextrocardia, Abnormal cardiac septum morphology OMIM:614294
Matthew-Wood Syndrome
Anophthalmia, Horseshoe kidney, Renal hypoplasia, Abnormal spleen morphology, Congenital diaphrag... ORPHA:2470
Thoracoabdominal Syndrome
Renal agenesis, Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries, Hy... OMIM:313850
Pagod Syndrome
Pulmonary artery hypoplasia, Arrhythmia, Sudden cardiac death, Situs inversus totalis, Hypoplasti... ORPHA:991
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Pulmonary artery atresia, Ventricular septal def... ORPHA:401935
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement OMIM:115210
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial septal defect, Abnormal aortic ... ORPHA:1120
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... OMIM:611556
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis, Respiratory i... ORPHA:2111
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Decreased liver function, Hepatic cysts, Polycystic kidney dys... OMIM:600666
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Patent ductus arteriosus, Atrial septal defect, Vascular ring, Ventricular sept... OMIM:601927
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double out... ORPHA:3304
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect OMIM:212090
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Bic... ORPHA:284169
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Abnormal macrophage morphology, Increased endomysial connective tiss... ORPHA:353
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Tracheomalacia, Patent ductus arteriosus, Atrial septal defect, Short thumb,... OMIM:612561
Ellis Van Creveld Syndrome
Emphysema, Hydroureter, Abnormality of the ureter, Abnormal heart valve morphology, Aplasia/Hypop... ORPHA:289
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Pleural effusion, Pulmonic stenosis, Pulmonary arterial hypertension, C... ORPHA:2414
Joubert Syndrome
Abnormal form of the vertebral bodies, Episodic tachypnea, Aganglionic megacolon, Abnormal patter... ORPHA:475
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Abnormal renal corticomedullary differentiation, Renal dysplasia, Left ventr... OMIM:616733
Distal Tetrasomy 15Q
Horseshoe kidney, Flexion contracture, Patent ductus arteriosus, Atrial septal defect, Hydronephr... ORPHA:314588
Campomelia, Cumming Type
Polycystic liver disease, Polysplenia, Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Patent foramen ovale, Atrial septal defect, Dysphagia, Respiratory distress ORPHA:89844
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Flexion contracture, Pneumonia, Skeletal muscle atrophy, Muscle fib... OMIM:253700
Marden-Walker Syndrome
Renal agenesis, Hydroureter, Abnormal anatomic location of the heart, Renal hypoplasia/aplasia, A... ORPHA:2461
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular septal defect, Renal hypopl... ORPHA:1166
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia, Truncus arteriosus OMIM:274210
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrioventricular canal defect, Hypertrophic cardio... ORPHA:251071
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Tangier Disease
Splenomegaly, Hepatomegaly, Facial diplegia, Coronary artery atherosclerosis, Atherosclerosis, Di... OMIM:205400
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Absence Of The Pulmonary Artery
Cardiomegaly, Pulmonary edema, Recurrent pneumonia, Patent foramen ovale, Patent ductus arteriosu... ORPHA:980
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology, Aplasia/Hypoplasia of fingers, Malar flatt... ORPHA:1919
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Heart Defects, Congenital, And Other Congenital Anomalies
Tetralogy of Fallot, Patent foramen ovale, Double outlet left ventricle, Hypoplastic tricuspid va... OMIM:600001
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Intestinal malrotation, Abnormality of the pancreas, Abnormal ... ORPHA:3032
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Mcdonough Syndrome
Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:248950
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Decreased liver function, Elevated hepatic transaminase OMIM:616974
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Renal cyst, Stage 5 chronic kidney disease, Hydronephrosis OMIM:613390
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice, Glossoptos... OMIM:614876
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Respiratory infections in early life OMIM:248110
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Micrognathia, Respiratory insufficiency due to muscle weakness, Myopathy,... OMIM:300580
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Pericardial effusion, Abnormal car... OMIM:608776
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Pulmonic stenosis, ... OMIM:245150
Atrial Septal Defect 1
Second degree atrioventricular block, Atrial septal defect, Subvalvular aortic stenosis, Atrial s... OMIM:108800
Feingold Syndrome 2
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Short thumb, Vent... OMIM:614326
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect, Optic disc hypoplasia, Accessory spleen OMIM:619306
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent gallbladder, Anophthalmia, Cystic renal dysplasia, Horseshoe ki... OMIM:156810
Velocardiofacial Syndrome
Tetralogy of Fallot, Unilateral primary pulmonary dysgenesis, Ventricular septal defect, Pulmonar... OMIM:192430
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Recurrent respiratory infections, Hepatomegaly ORPHA:2432
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect OMIM:616277
Carpenter Syndrome 1
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Pulmonic ste... OMIM:201000
Johnson Neuroectodermal Syndrome
Patent ductus arteriosus, Micropenis, Right aortic arch, Ventricular septal defect, Facial palsy OMIM:147770
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Abnormal form of the vertebral bodies, Kyphosis, Abnormality of ... ORPHA:280
Mmep Syndrome
Ventricular septal defect, Mandibular prognathia ORPHA:3434
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Right ventricular hypertro... OMIM:614261
Bowen Syndrome Of Multiple Malformations
Abnormal heart morphology, Micrognathia OMIM:211200
Catel-Manzke Syndrome
Atrial septal defect, Micrognathia, Malar flattening, Ventricular septal defect, Camptodactyly of... ORPHA:1388
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Serkal Syndrome
Pulmonary hypoplasia, Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Aortic regurgitation, Patent ductus arteriosus, Thoracic aort... OMIM:132900
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Retinitis Pigmentosa 89
Hepatosplenomegaly, Esophageal varix, Bicuspid aortic valve, Intrahepatic bile duct dilatation, M... OMIM:618955
Feingold Syndrome Type 2
Short middle phalanx of finger, Short thumb, Ventricular septal defect ORPHA:391646
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Coronary Arterial Fistula
Coronary artery aneurysm, Cardiomegaly, Patent foramen ovale, Patent ductus arteriosus, Congestiv... ORPHA:2041
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Periportal fibrosis, Congenital diaphragmatic hernia, Polycystic kidney dysp... OMIM:263210
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Autoimmune thrombocytopenia... OMIM:613496
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea, Left ventricular noncompaction, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:616501
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Igg4-Related Aortitis
Abnormal aortic arch morphology, Hypereosinophilia, Thoracic aortic aneurysm, Asthma, Hydronephro... ORPHA:449400
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Respiratory insufficiency, Micrognathia, Hip contracture, Retrognathia, F... OMIM:615959
Mungan Syndrome
Perimembranous ventricular septal defect, Tricuspid regurgitation, Pulmonic stenosis OMIM:611376
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Patent ductus arteriosus, Aortic ... ORPHA:229
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Hypoxemia, Atrial septal defect, Muscular ventric... ORPHA:439
3C Syndrome
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral v... ORPHA:7
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Micrognathia OMIM:608227
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Respiratory failure, Ventricular septal defect, Hydronephrosis OMIM:607598
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Syndromic Diarrhea
Tetralogy of Fallot, Hepatoblastoma, Abnormality of the liver, Cirrhosis, Patent ductus arteriosu... ORPHA:84064
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Right ventricular hypertrophy, Congenital muscular dystrophy, Mus... ORPHA:324604
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Accessory spleen, Hydronephrosis, Microphthalmia, Agenesi... OMIM:236680
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot, Bilateral trilobed lungs... OMIM:613630
Sandestig-Stefanova Syndrome
Microphthalmia, Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular sep... OMIM:618804
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Hepatic steatosis, Proximal tubulopa... OMIM:231680
Trisomy 1Q
Anophthalmia, Patent ductus arteriosus, Hydronephrosis, Congenital diaphragmatic hernia, Multicys... ORPHA:261344
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Cardiac Valvular Defect, Developmental
Urethral diverticulum, Patent foramen ovale, Tricuspid atresia, Arteria lusoria, Hydronephrosis, ... OMIM:212093
Isolated Polycystic Liver Disease
Abnormality of the pancreas, Polycystic liver disease, Hepatomegaly, Vascular dilatation, Multipl... ORPHA:2924
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Hypoxemia, Patent ductus arteriosus, Atrial septal defect, Congenital diaphr... ORPHA:2847
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Tetralogy of Fallot, Patent foramen ovale, Double outlet left ventricle, Hypoplastic tricuspid va... ORPHA:2255
Prune Belly Syndrome
Patent ductus arteriosus, Hydronephrosis, Pectus excavatum, Abnormal heart morphology, Congenital... OMIM:100100
Chromosome 16P13.3 Deletion Syndrome, Proximal
Hypoplastic left heart, Polysplenia, Abnormality of the kidney OMIM:610543
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Elevated circulating alanine aminotransferase concentrat... OMIM:608836
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Aortic Arch Interruption
Aortic valve atresia, Aortopulmonary window, Patent ductus arteriosus, Tachypnea, Double outlet r... ORPHA:2299
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Czeizel-Losonci Syndrome
Hydronephrosis, Dextrocardia, Ureteral agenesis, Abnormality of the urinary system, Pulmonary hyp... ORPHA:2437
Nasodigitoacoustic syndrome
Pulmonic stenosis OMIM:255980
Feingold Syndrome Type 1
Horseshoe kidney, Patent ductus arteriosus, Tricuspid atresia, Hydronephrosis, Tricuspid stenosis... ORPHA:391641
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenomega... OMIM:610199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Congenital muscular dystrophy, Micropenis, Muscular dystrophy, Macroglossia,... OMIM:613156
Congenital Rubella Syndrome
Patent ductus arteriosus, Atrial septal defect, Splenomegaly, Hepatomegaly, Jaundice, Microphthal... ORPHA:290
Short Rib-Polydactyly Syndrome
Abnormality of the liver, Absent or minimally ossified vertebral bodies, Intestinal malrotation, ... ORPHA:1505
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Renal cortical adenoma, Polycystic kidney dysplasia, Papillary renal cell carcin... OMIM:145001
Meier-Gorlin Syndrome 7
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect, Pulmonar... OMIM:617063
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Anemia, Renal insufficiency, Camptodactyly, Left ventricular hypertrophy, Thrombo... OMIM:611209
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Right ventricular hypertrophy, Pulmonary sequestration ORPHA:70589
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia ORPHA:1882
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Hydronephrosis, Decreased liver function, Duplicated collecting system, Elevat... OMIM:617093
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia, Hyperechogenic kidneys OMIM:613885
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Pulmonic stenosis, Pulmonary arterial hypertensio... OMIM:616028
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Distal Trisomy 5Q
Absent thumb, Hypoplasia of the ulna, Carious teeth, Hypoplasia of the radius, Dextrocardia, Micr... ORPHA:96097
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Hypoplastic spleen, T lymphocytopenia, Endocardial fibroelastosis, Impa... OMIM:619313
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia OMIM:225050
Distal Trisomy 17Q
Abnormal heart morphology, Vesicoureteral reflux, Renal duplication, Accessory spleen ORPHA:3379
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Patent ductus arteriosus, Hypoplasia of penis, Microphthalmia, Ventricular septal d... ORPHA:77298
Down Syndrome
Complete atrioventricular canal defect OMIM:190685
Klippel-Trénaunay Syndrome
Microcytic anemia, Upper limb asymmetry, Abnormal tricuspid valve morphology, Patent ductus arter... ORPHA:90308
Emanuel Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Recurrent respiratory infectio... OMIM:609029
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Extrapulmonary sequestrum, Hepatomegaly, Pancreatic fibr... OMIM:200995
Trisomy 17P
Flexion contracture, Patent ductus arteriosus, Skeletal muscle atrophy, Hydronephrosis, Hypoplasi... ORPHA:261290
Feingold Syndrome 1
Patent ductus arteriosus, Accessory spleen, Asplenia, Annular pancreas, Polysplenia OMIM:164280
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Perineal hypospadias, Normochromic micr... ORPHA:66634
Hallermann-Streiff Syndrome
Tracheomalacia, High, narrow palate, Abdominal situs inversus, Glossoptosis, Respiratory insuffic... ORPHA:2108
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Patent ductus arteriosus, Right ventricular hypertrophy OMIM:613623
Sternum, Premature Obliteration Of Sutures Of
Abnormal heart morphology, Short sternum, Micrognathia, Premature sternal synostosis OMIM:184800
Noonan Syndrome 10
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pleural effusion, Pu... OMIM:616564
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... ORPHA:86812
Isolated Cleft Lip
Supernumerary maxillary incisor, Situs inversus totalis ORPHA:199302
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increas... ORPHA:171442
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cardiac arrest, Left-to-right shunt, Dextrocardia, Ventricular septal defect, Inlet ventricular s... OMIM:619534
Cardiomyopathy, Dilated, 1Kk
Ventricular septal hypertrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventric... OMIM:615248
Cat-Eye Syndrome (Type I)
Abnormal heart morphology, Micrognathia DECIPHER:42
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Left ventricular hypertrophy, Ventricular septal defec... OMIM:618619
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Patent ductus arteriosus, Atrial septal defect, First degree atri... ORPHA:392
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, Abno... ORPHA:477817
Renpenning Syndrome
Heterotaxy, Hypospadias, Skeletal muscle atrophy ORPHA:3242
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Arrhythmia, Abnormal mitral... ORPHA:500
Roberts-Sc Phocomelia Syndrome
Horseshoe kidney, Patent ductus arteriosus, Accessory spleen, Atrial septal defect, Long penis, A... OMIM:268300
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, 3-Methylglutaric aciduria, Restrictive ventilatory defect, Respiratory failure, P... ORPHA:26791
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Central Core Disease
Nemaline bodies, Multiple joint contractures, Type 1 muscle fiber predominance, Respiratory insuf... ORPHA:597
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Mosaic Trisomy 9
High palate, Abnormal heart valve morphology, Patent ductus arteriosus, Endocardial fibroelastosi... ORPHA:99776
Cranioectodermal Dysplasia 2
Renal cyst, Biliary cirrhosis, Patent foramen ovale, Patent ductus arteriosus, Cholestasis, Atria... OMIM:613610
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Micrognathia ORPHA:261120
8P Inverted Duplication/Deletion Syndrome
Tetralogy of Fallot, Micropenis, Hydronephrosis, Dextrocardia, Pectus excavatum, Abnormal heart m... ORPHA:96092
Isolated Splenogonadal Fusion
Ectopia of the spleen, Polysplenia, Abnormal penis morphology ORPHA:457083
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Disorder Of Bile Acid Synthesis
Fat malabsorption, Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary ... ORPHA:79168
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Noonan Syndrome 2
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, C... OMIM:605275
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:79234
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology, Deviation of finger ORPHA:903
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Cat-Eye Syndrome
Microphthalmia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Cor tria... OMIM:612541
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Recurrent respiratory infections, Respiratory distress, Nephronophth... OMIM:184260
Aicardi-Goutieres Syndrome 9
Proteinuria, Anemia, Recurrent urinary tract infections, Hyperechogenic kidneys, Stage 5 chronic ... OMIM:619487
Coffin-Siris Syndrome 10
Persistence of primary teeth, Ventricular septal defect OMIM:618506
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Caroli Syndrome
Hepatic failure, Leukopenia, Portal hypertension, Leukocytosis, Cholangitis, Cholangiocarcinoma, ... ORPHA:480520
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Respiratory failure, Hydroureter OMIM:618240
Cat Eye Syndrome
Total anomalous pulmonary venous return, Intestinal malrotation, Anal atresia, Abnormal heart mor... OMIM:115470
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Muscular ventricular septal defect, Renal agenesis OMIM:619227
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatic steatosis, Cystic renal dysplasia, Hepatic failure, Tubul... ORPHA:228308
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Myxomatous mitral valve degeneration, Asthma, Aortic di... OMIM:130090
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect, Micrognathia OMIM:616901
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Rhabdomyolysis, Hepatic failure, Tubulointerstitial nephritis, Red-brown ... ORPHA:157
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Aortic root aneurysm, Pa... ORPHA:730
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Kagami-Ogata Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Pulmonary arterial hypertensio... OMIM:608149
Hypercalcemia, Infantile, 1
Aortic valve stenosis, Pulmonic stenosis OMIM:143880
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Jaundice, Polycystic kidney dysplasia, Hepatomegaly, Aminoacidur... OMIM:214110
Thakker-Donnai Syndrome
Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Micrognathia, Short distal phalanx of finger, Ventricular septal defect, ... ORPHA:2516
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs, Amelia involving the upper limbs, Micrognathia, Acromelia of the... ORPHA:1027
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Hematuria, Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Nephropa... OMIM:611773
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot, Neonatal death, Pulmonary hypoplasia OMIM:617925
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Polycystic kidney dysplasia, Recurrent urinary tract in... ORPHA:731
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Carpenter Syndrome
Polysplenia, Patent ductus arteriosus ORPHA:65759
Marden-Walker Syndrome
Micropenis, Renal hypoplasia, Dextrocardia, Hypospadias, Pulmonary hypoplasia OMIM:248700
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Renal hypoplasia, Hydronephrosis, Abnormal heart morphology, Obstructive sleep ap... OMIM:618494
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice, Ventricular septal defect, Cholestasis ORPHA:1296
Timothy Syndrome
Tetralogy of Fallot, Pneumonia, Patent foramen ovale, Patent ductus arteriosus, Ventricular septa... OMIM:601005
Loeffler Endocarditis
Eosinophilia, Myocardial fibrosis, Abnormal heart valve morphology, Aortic valve stenosis, Abnorm... ORPHA:75566
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Subvalvular aortic stenosis, Membranous subvalvular aortic stenosis, Scoliosis, Biliary... ORPHA:3191
Cholestasis-Lymphedema Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Biliary t... ORPHA:1414
Tetraamelia Syndrome 2
Microretrognathia, Ventricular septal defect, Micrognathia, Hypoplastic pulmonary veins OMIM:618021
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Ankle flexion contracture, Knee flexion contracture, Flexion contra... OMIM:619040
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aorta, Dea... OMIM:600460
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Flexion contracture, Congenital muscular dystrophy, Skeletal muscle atrop... OMIM:253800
Grange Syndrome
Short palm, Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus ORPHA:79094
Joubert Syndrome 39
Hypoplastic left heart, Hypopnea, Polycystic kidney dysplasia OMIM:619562
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Patent ductus arteriosus, Atrial septal defect, Double outlet ri... OMIM:614886
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Atrial septal defect, Hydronephrosis, Subvalvular aortic stenosis, Periph... OMIM:613001
Femoral-Facial Syndrome
Abnormal localization of kidney, Long penis, Renal hypoplasia/aplasia, Polycystic kidney dysplasia ORPHA:1988
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Ventricular septal defect, Pulmonic stenosis OMIM:615508
Johanson-Blizzard Syndrome
Hydronephrosis, Hypoplasia of penis, Dextrocardia, Hypospadias, Abnormal cardiac septum morphology ORPHA:2315
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,...