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Gene: Dnah11 MGI:1100864

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... OMIM:611884
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Atrial situs ambiguous, Abnormal atrial arrangement, Intestinal ma... ORPHA:244

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... OMIM:611884
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... OMIM:605376
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... OMIM:618300
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:608644
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Situs inversus totalis, Recu... OMIM:615451
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta... OMIM:615481
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Chronic bronchitis, Si... OMIM:616037
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:615504
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent lower respiratory tr... OMIM:618254
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:300991
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:615505
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... OMIM:614679
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou... OMIM:619607
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis... OMIM:615482
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil... OMIM:614874
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:615500
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:616481
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... OMIM:614017
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... OMIM:618063
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:613807
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia, ... OMIM:613193
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... OMIM:615382
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... OMIM:612444
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot... OMIM:615444
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia ORPHA:66630
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... OMIM:185500
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis OMIM:612518
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:612650
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhiniti... OMIM:614935
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... OMIM:306955
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Situs inversus totalis... OMIM:617092
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:608647
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiec... OMIM:620197
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... OMIM:617577
Scimitar Syndrome
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... ORPHA:185
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:613808
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestinal... OMIM:270100
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypospadias, Renal dysplasia OMIM:615985
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... OMIM:620294
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Mirror Movements 3
Situs inversus totalis OMIM:616059
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Right aortic arch, Transposition of the great arteries, ... OMIM:231060
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Hypoglossia With Situs Inversus
Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, High palate, Po... OMIM:612776
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Atrial situs ambiguous, Abnormal atrial arrangement, Intestinal ma... ORPHA:244
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Decreased ... OMIM:619608
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Atrioventricular Septal Defect 4
Primum atrial septal defect OMIM:614430
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Kyphosis, Cleft palate, Abdominal situs inversus, Pulmonic s... OMIM:619123
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Meacham Syndrome
Bicuspid aortic valve, Atrial septal defect, Scimitar anomaly, Diaphragmatic eventration, Congeni... OMIM:608978
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Colonic Atresia
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... ORPHA:1198
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Pierre Robin Syndrome
Neonatal respiratory distress, Cor pulmonale, Upper airway obstruction, Micrognathia OMIM:261800
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Bronchiectasis, Abdominal situs inversus, Chroni... OMIM:618699
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Isomerism, Urethral atresia, Transposition of the great arteries, Pulmonary hypopla... OMIM:314390
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... OMIM:615294
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Dextrocardia
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... ORPHA:1666
Marfanoid Habitus With Situs Inversus
Mandibular prognathia, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmo... OMIM:609008
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... OMIM:267010
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... ORPHA:3097
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
16P13.11 Microduplication Syndrome
Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Transposition of the great art... ORPHA:261243
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Asplen... OMIM:619657
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypopla... OMIM:613686
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St... OMIM:613095
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Cardiomyopathy, Familial Restrictive, 6
Death in infancy, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmona... OMIM:619433
Microphthalmia, Syndromic 9
Anophthalmia, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defec... OMIM:601186
Lipedema
Edema OMIM:614103
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... OMIM:618845
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Respiratory insuffi... ORPHA:1909
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus... OMIM:202650
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough OMIM:615434
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis OMIM:615872
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Absent frontal sinuses, Atelectasis, Bronchiectasis, Immotile ... OMIM:244400
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor... OMIM:617478
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Respiratory... OMIM:253300
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... OMIM:611556
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Abnormal heart morphology, Stillbirth, Abnormal cardiac septum morpholo... ORPHA:294975
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... OMIM:106700
Poland Syndrome
Unilateral absence of pectoralis major muscle, Unilateral oligodactyly, Unilateral hypoplasia of ... OMIM:173800
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chro... OMIM:612649
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi... ORPHA:1908
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... ORPHA:2326
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Abnormal he... ORPHA:2257
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... ORPHA:1461
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Dextrocardia, Intestinal malrotation, Respiratory insufficiency, Duodenal stenosis,... ORPHA:1759
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Double... ORPHA:3426
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, Transposition of the great arteries, Atrial septal defec... ORPHA:1913
Ciliary Dyskinesia, Primary, 6
Ciliary dyskinesia, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis OMIM:610852
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Asplenia, Atrial septal defect, Atrioventricular can... ORPHA:210122
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropen... OMIM:618280
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Bardet-Biedl Syndrome 17
Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro... OMIM:615994
Nemaline Myopathy 9
Ventricular septal defect, Micrognathia, Respiratory insufficiency, Arthrogryposis multiplex cong... OMIM:615731
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia OMIM:616726
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... ORPHA:564
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Tetralogy of Fallot, A... ORPHA:1926
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Paget Disease Of Bone 6
Left ventricular hypertrophy, Nephrocalcinosis, Coronary artery atherosclerosis OMIM:616833
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk... OMIM:242670
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Morgagni diaphragmatic hernia, Vascular di... OMIM:613177
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... OMIM:601612
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Bronchiectasis, Chronic rhinitis OMIM:618801
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Pro... OMIM:613404
Meckel Syndrome, Type 8
Anophthalmia, Pericardial effusion, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic k... OMIM:613885
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Dextrocardia, Micrognathia, Patent ductus art... ORPHA:2863
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia OMIM:215520
Seckel Syndrome 9
Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ... OMIM:616777
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium... OMIM:615524
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Abnormally large globe, Vascular ring, Knee f... OMIM:603387
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... OMIM:208085
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
2p15-16.1 microdeletion syndrome
Hydronephrosis, Optic disc hypoplasia, Camptodactyly of finger DECIPHER:70
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stag... OMIM:615993
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Fanconi Anemia, Complementation Group Q
Primum atrial septal defect OMIM:615272
Renal Tubular Dysgenesis
Renotubular dysgenesis, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephrop... ORPHA:3033
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Respiratory distress, Mandibular aplasia ORPHA:990
Birk-Aharoni Syndrome
Duplicated collecting system, Muscular ventricular septal defect, Micropenis OMIM:620071
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Combined Oxidative Phosphorylation Deficiency 31
Micrognathia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increase... OMIM:617228
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d... OMIM:300963
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Micropen... ORPHA:335
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
22Q11.2 Duplication Syndrome
Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ... ORPHA:1727
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Neonatal death, Atrial sep... OMIM:265380
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Elevated circulating aspa... OMIM:619048
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Ventricular septal defect, Splenomegaly... OMIM:619418
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Joint contracture of the hand,... OMIM:179613
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... OMIM:620005
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Pyloric Atresia
Polyhydramnios, Congenital pyloric atresia OMIM:265950
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... ORPHA:79301
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Micrognathia, Missing ribs, Double outlet right ventricle, Hypoplastic... OMIM:220210
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger, Malformatio... OMIM:249000
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Progressive Non-Infectious Anterior Vertebral Fusion
Kyphosis, Abdominal situs inversus, Hemivertebrae, Scoliosis ORPHA:2062
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Myopathy, Microphthalmia, H... OMIM:243605
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Fetal Minoxidil Syndrome
Ventricular septal defect, Micrognathia ORPHA:1918
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic kidney dysplasia,... OMIM:173900
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... OMIM:615996
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Mitral regurgitation, Pulm... OMIM:615355
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Trisomy 13
Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Patent ductus arter... ORPHA:3378
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr... ORPHA:1335
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... OMIM:619902
Thoracoabdominal Syndrome
Renal agenesis, Hypospadias, Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of the... OMIM:313850
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respiratory insufficiency OMIM:615917
Familial Visceral Myopathy
Aganglionic megacolon, Abdominal situs inversus, Cleft palate ORPHA:2604
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Abnormal lung morphology, Renal hypoplasia, Horses... ORPHA:2470
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement OMIM:115210
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis, Respiratory i... ORPHA:2111
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Intellectual Developmental Disorder, Autosomal Dominant 66
Pectus excavatum, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great... OMIM:619910
Distal Triplication 15Q
Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contracture... ORPHA:314588
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Abnor... ORPHA:1120
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... OMIM:615297
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Chylopericardium, Pulmonic stenosis, Pulmonary... ORPHA:2414
Pagod Syndrome
Death in infancy, Sudden cardiac death, Situs inversus totalis, Pulmonary artery hypoplasia, Abno... ORPHA:991
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Dysphagia, Atrial septal defect, Hypoplastic spleen, Patent foramen ovale ORPHA:89844
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Abnormal ... ORPHA:3032
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Achilles tendon ... ORPHA:353
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Micrognathia, Short thumb, Pa... OMIM:612561
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Renal hypoplasia/aplasia, Respiratory insufficiency, Abnormal aortic m... ORPHA:1166
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Ellis Van Creveld Syndrome
Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia... ORPHA:289
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia, Decreased liver fu... OMIM:600666
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul... OMIM:300972
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Joubert Syndrome
Aganglionic megacolon, Apnea, Episodic tachypnea, Situs inversus totalis, Abnormal form of the ve... ORPHA:475
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Ventricula... ORPHA:2461
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... OMIM:600001
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Micrognathia, Patent ductus arteriosus, Pulmonary artery stenosi... ORPHA:251071
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... ORPHA:980
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Respiratory distress, Pulmonary edema, Cardiomegaly, Pericardial effusio... OMIM:115197
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia OMIM:211890
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Pulmonary hypoplasia, Abnormal renal corticomedullary differentiation, Left ... OMIM:616733
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Phenobarbital Embryopathy
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Malar fla... ORPHA:1919
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias OMIM:615542
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... OMIM:192430
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Parachute mitral valve,... OMIM:618316
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Tachypnea, Left ventricular noncompaction OMIM:616501
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Macrodontia of permanent maxillary central incisor, Ventricular septal defe... OMIM:618067
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Micrognathia, Respiratory insufficiency due to muscle weaknes... OMIM:300580
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Patent ductus arterios... OMIM:164280
Keutel Syndrome
Miscarriage, Ventricular septal defect, Recurrent bronchitis, Hypertension, Pulmonary artery hypo... OMIM:245150
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Polyc... OMIM:608776
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... OMIM:190685
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Optic disc hypoplasia, Flexion contracture, Ventricular septal defect OMIM:619306
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Retinitis Pigmentosa 89
Bicuspid aortic valve, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr... OMIM:618955
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Short toe, Anterior open-bite malocclusion, Perimembranous ventricular septal d... OMIM:617877
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert... ORPHA:206546
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Kyphosis, Abnormality of the gallbladder, Cleft palate, Abnormal... ORPHA:280
Feingold Syndrome Type 2
Short middle phalanx of finger, Short thumb, Ventricular septal defect ORPHA:391646
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Recurrent respiratory infections, Hepatomegaly ORPHA:2432
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... OMIM:620025
Carpenter Syndrome 1
Hydroureter, Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, ... OMIM:201000
Feingold Syndrome 2
Short middle phalanx of the 2nd finger, Short thumb, Ventricular septal defect, Short middle phal... OMIM:614326
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:614876
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Abnormal heart morp... OMIM:263210
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Tangier Disease
Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, Cor... OMIM:205400
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Elevated hepatic transa... OMIM:608836
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten... ORPHA:439
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:2299
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ventricular septal defect, Ectopic kidney, Microphthalmia, Cystic renal dysplasia OMIM:613730
Igg4-Related Aortitis
Thoracic aortic aneurysm, Asthma, Hypereosinophilia, Abnormal aortic arch morphology, Ascending t... ORPHA:449400
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Serkal Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Classic Multiminicore Myopathy
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... ORPHA:324604
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Micrognathia, Atrial septal defect, Malar fla... ORPHA:1388
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema, Right ventricular hype... ORPHA:70589
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coro... OMIM:614294
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Micrognathia OMIM:608227
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
Rubinstein-Taybi Syndrome 1
Accessory spleen, Ventricular septal defect, Hypospadias, Respiratory tract infection, Patent for... OMIM:180849
Trisomy 17P
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Flexion c... ORPHA:261290
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Elevat... OMIM:616974
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis OMIM:607598
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... OMIM:616276
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Mmep Syndrome
Mandibular prognathia, Ventricular septal defect ORPHA:3434
Sandestig-Stefanova Syndrome
Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect, Cam... OMIM:618804
3C Syndrome
Death in infancy, Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral va... ORPHA:7
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Stroke-like episode OMIM:540000
Chromosome 16P13.3 Deletion Syndrome, Proximal
Hypoplastic left heart, Abnormality of the kidney, Polysplenia OMIM:610543
Trisomy 1Q
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Camptodactyly of finger, C... ORPHA:261344
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Rig... OMIM:614261
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Vascul... ORPHA:2924
Fetal Encasement Syndrome
Bilateral trilobed lung, Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level,... OMIM:613630
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Anemia, H... OMIM:185070
Syndromic Diarrhea
Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Hepatoblastoma, Incr... ORPHA:84064
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... OMIM:300845
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Czeizel-Losonci Syndrome
Dextrocardia, Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Pulmon... ORPHA:2437
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ... OMIM:620070
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia ORPHA:1882
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonic stenosis, Recurre... OMIM:618282
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent duc... ORPHA:2847
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia OMIM:225050
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Patent ductus arterios... ORPHA:77298
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Thromb... ORPHA:290
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Isolated Cleft Lip
Situs inversus totalis, Supernumerary maxillary incisor ORPHA:199302
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... ORPHA:86812
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Distal Duplication 17Q
Vesicoureteral reflux, Renal duplication, Accessory spleen, Abnormal heart morphology ORPHA:3379
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab... ORPHA:477817
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se... OMIM:615248
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,... OMIM:613156
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu... ORPHA:391641
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Hallermann-Streiff Syndrome
High, narrow palate, Respiratory insufficiency, Glossoptosis, Abdominal situs inversus, Tracheoma... ORPHA:2108
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,... OMIM:236680
Renpenning Syndrome
Skeletal muscle atrophy, Heterotaxy, Hypospadias ORPHA:3242
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Left atrial enlargement OMIM:612201
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology... OMIM:618494
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Micrognathia, Cari... ORPHA:96097
Cat-Eye Syndrome (Type I)
Micrognathia, Abnormal heart morphology DECIPHER:42
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Central Core Disease
Neonatal respiratory distress, Multiple joint contractures, Respiratory insufficiency due to musc... ORPHA:597
Atrial Standstill
Skeletal muscle atrophy, Dyspnea, Flexion contracture, Abnormal heart morphology, Cardiomyopathy,... ORPHA:1344
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Dyspnea, Lacticaciduria, Cardiorespiratory arrest, Abnormal heart morphology, ... ORPHA:26791
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Klippel-Trénaunay Syndrome
Hepatomegaly, Peripheral arteriovenous fistula, Abnormality of the menstrual cycle, Venous insuff... ORPHA:90308
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Neon... OMIM:619534
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613694
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm... OMIM:200995
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... OMIM:616564
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... OMIM:300280
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy, Increased urine alpha-ketoglutarate concentration OMIM:614458
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
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Renal cyst, Cholest... OMIM:610199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Respir... OMIM:253800
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... ORPHA:500
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology OMIM:613390
Adams-Oliver Syndrome 5
Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval... OMIM:616028
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Polycystic kidney d... OMIM:184260
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Intestinal malrotation,... ORPHA:99776
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Mungan Syndrome
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia, Muscular dystrophy OMIM:613153
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613876
Joubert Syndrome 39
Hypopnea, Hypoplastic left heart, Polycystic kidney dysplasia OMIM:619562
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect, Micrognathia ORPHA:261120
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Microvesicular hepatic steatosis, Muscular ve... ORPHA:66634
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epit... ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... ORPHA:228308
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Pectus excavatum, Abnormal heart morphology, Abnormality of the urinary system, Mic... ORPHA:96092
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:613812
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... OMIM:619040
Meckel Syndrome 14
Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kidney dysplasia, Microphthalmia... OMIM:619879
Mirage Syndrome
Thrombocytopenia, Patent ductus arteriosus, Esophageal stricture, Intracranial hemorrhage, Leukop... OMIM:617053
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Portal hypertens... OMIM:619487
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Vesicoureteral reflux, Knee flexion contra... ORPHA:3208
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Myopathy, Ventricular septal defect, Increased ... OMIM:616816
Von Willebrand Disease
Deviation of finger, Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Carpenter Syndrome
Patent ductus arteriosus, Polysplenia ORPHA:65759
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Ventricular septal defect, Cholestasis ORPHA:1296
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Hepatomegaly, Anophthalmia, Multicystic kidney dysplasia, Renal ... ORPHA:2538
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Hamamy Syndrome
Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS... OMIM:611174
Thakker-Donnai Syndrome
Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Kagami-Ogata Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic stenosis, Atr... OMIM:608149
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Abnormal heart morphology, Aminoaciduria... OMIM:214110
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Renal agenesis, Unilateral renal agenesis OMIM:619227
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Biliary tract abnormality, Respiratory insufficiency, Membranous subvalvular aortic ste... ORPHA:3191
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613874
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Autosomal Recessive Amelia
Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Amelia involvi... ORPHA:1027
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate... OMIM:613610
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Prune Belly Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Renal insufficiency, Ventricular ... ORPHA:2970
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormal cardiac septum morphology, Hydronephrosis ORPHA:2315
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Renal hypoplasia, Pulmonary hypoplasia, Micropenis OMIM:248700
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Micrognathia, Abnormal lung lobation, Abnormal aortic morphology, Trun... ORPHA:2516
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... OMIM:277380
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Short palm ORPHA:79094
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Renal ag... OMIM:229850
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Renal cyst OMIM:174050
Gaucher Disease, Type Ii
Hepatomegaly, Double aortic arch, Splenomegaly, Anemia, Bronchiolitis, Recurrent aspiration pneum... OMIM:230900
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Micropenis, Dextrocardia, Coarctation of aorta OMIM:618929
Femoral-Facial Syndrome
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:1988
Sotos Syndrome
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Muscular ventricu... OMIM:117550
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Complete atrioventricular canal defect, Tetralogy of Fallot, Pulmonary hypoplasia OMIM:617925
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Micrognathia, Abnormal heart morphology, Abnormal ... ORPHA:261197
Leopard Syndrome 1
Bundle branch block, Complete atrioventricular canal defect, Mitral valve prolapse, Third degree ... OMIM:151100
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Diastasis recti, Unilateral renal agenesis OMIM:618419
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis,... OMIM:616589
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno... ORPHA:858
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst OMIM:263630
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Malar flattening, Ventricular septal defect, Aplasia/Hypoplasia of the dis... ORPHA:94066
Emanuel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Patent ductus ar... OMIM:609029
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def... OMIM:613001
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ... OMIM:619167
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Mitral valve prolapse, Small thenar eminence, Camptodactyly, Joint con... OMIM:211960
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Ventricular septal defect, Hypospadias, Vesicoureteral reflux, Micr... OMIM:301056
Maternal Phenylketonuria
Ventricular septal defect, Micrognathia, Abnormal heart morphology, Coarctation of aorta, Hypopla... ORPHA:2209
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Polysplenia OMIM:617784
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata... OMIM:611773
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil... OMIM:617056
Developmental Delay, Language Impairment, And Ocular Abnormalities
Pulmonic stenosis, Facial telangiectasia OMIM:620141
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function, Renal cyst OMIM:614870
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect, Scoliosis OMIM:619717
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Apnea, Respiratory failure OMIM:616277
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Stroke, Left ventricular hypert... ORPHA:85451
Holoprosencephaly 11
Polysplenia OMIM:614226
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Camptodactyly, Atrial septal... OMIM:614846
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... ORPHA:2547
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Hypospadias, Ankle flexion contracture, Patent ductu... OMIM:268300
Cln3 Disease
Left ventricular hypertrophy, Urinary bladder sphincter dysfunction, Vacuolated lymphocytes ORPHA:228346
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Recurrent aspiration pneumonia, Patent ductus arteriosus, Hypertrophy of the urinary... ORPHA:280633
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... OMIM:615710
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Stroke, Renal sodium ... ORPHA:320
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Duodenal atresia, Abnormal aortic morphology, Abnormal tricuspid valve... ORPHA:3405
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Do... OMIM:614886
Congenital Myopathy 19
Respiratory insufficiency due to muscle weakness, Renal atrophy, Hydronephrosis, Respiratory insu... OMIM:618578
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy ORPHA:444013
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Pulmonic stenosis OMIM:615280
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
Alg12-Cdg
Elevated hepatic transaminase, Recurrent respiratory infections, Hypospadias, Recurrent pharyngit... ORPHA:79324
Isolated Splenogonadal Fusion
Abnormal penis morphology, Ectopia of the spleen, Polysplenia ORPHA:457083
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch ORPHA:250989
Tetraploidy
Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Hydronephrosis, Aplasia/Hypoplasia aff... ORPHA:3305
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypospadias, Elevated c... OMIM:614866
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, Leukop... OMIM:620210
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kid... OMIM:614091
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Epidermal Nevus Syndrome
Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Rhabdomyosarcoma, Aortic a... ORPHA:35125
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Pericardial effusion, Hypersplenism, Thrombocytopenia, Splenomegaly, ... ORPHA:77259
Choanal Atresia And Lymphedema
Pericardial effusion, High palate, Lymphedema OMIM:613611
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:614921
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Patent ductus arteriosus, Apnea, Hydronephrosis OMIM:619797
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration OMIM:618330
Birt-Hogg-Dube Syndrome 1
Multiple pulmonary cysts, Renal neoplasm, Spontaneous pneumothorax, Renal cyst, Renal cell carcinoma OMIM:135150
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta, Mitral valve prolapse OMIM:601216
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Cardiomyopathy, Dilated, 1V
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613697
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane... ORPHA:1667
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc... ORPHA:2237
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Inter... ORPHA:163979
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Nephrotic sy... OMIM:617713
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Pulmonic stenosis OMIM:618914
Joubert Syndrome With Ocular Defect
Apnea, Aganglionic megacolon, Dextrocardia, Cleft palate, Scoliosis, Abnormal vertebral morpholog... ORPHA:220493
Joubert Syndrome 18
Ventricular septal defect, Renal cyst, Horseshoe kidney OMIM:614815
Renpenning Syndrome 1
Mandibular prognathia, Ventricular septal defect, Micrognathia, Situs inversus totalis, Joint con... OMIM:309500
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Abnormal localization of kidney ORPHA:83473
Fabry Disease
Renal insufficiency, Transient ischemic attack, Proteinuria, Ventricular septal hypertrophy, Urin... OMIM:301500
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... ORPHA:371428
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Bicuspid aortic valve, Vent... ORPHA:353281
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Microphthalmia, T... OMIM:300887
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, Vesicoureteral... ORPHA:567
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta OMIM:300867
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Ureteral duplication, Hypoplasia of penis, Ventricular septal defect, Camptodactyly... ORPHA:373
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Recurrent respiratory infections, Patent ductus arteriosus, Coarctation of aorta, Interrupted aor... ORPHA:17
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ... OMIM:617506
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger OMIM:601355
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Hydroureter, Hydronephrosis OMIM:618240
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle OMIM:614654
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Okamoto Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... ORPHA:2729
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu... OMIM:618901
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613251
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Patent ductus arteriosus, Penoscrotal transposition, Small thenar eminence, Pulmonar... OMIM:619148
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Arthrogryposis multiplex congenita OMIM:616570
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:610978
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Multiple pulmonary c... ORPHA:400
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Emanuel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Patent ductus ar... ORPHA:96170
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus... OMIM:606003
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Pulmonic stenosis ORPHA:75496
Noonan Syndrome 12
11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Abnormali... ORPHA:1677
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect OMIM:616898
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Micropht... OMIM:618652
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ... OMIM:602347
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Patellar hypoplasia, Atrial septal defect, P... OMIM:619189
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Pulmonic stenosis OMIM:617600
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Hyperlysinemia
Pulmonary artery hypoplasia, Recurrent pneumonia ORPHA:2203
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Abnormally large globe, Pancreatic lymphangiectasis, Spl... ORPHA:1655
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple... OMIM:216360
Wolf-Hirschhorn Syndrome
Accessory spleen, Rieger anomaly, Decreased muscle mass, Ventricular septal defect, Hypospadias, ... OMIM:194190
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Thoracic aortic aneurysm, Glycogen accumulation in muscl... ORPHA:365
Diets-Jongmans Syndrome
Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Heterotaxy, Interrupted ... OMIM:618846
Phelan-Mcdermid Syndrome
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney... OMIM:606232
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Tetralogy of Fallot ORPHA:276422
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... ORPHA:268
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Tangier Disease
Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca... ORPHA:31150
Proteus Syndrome
Splenomegaly, Lymphangioma, Kyphoscoliosis, Venous malformation OMIM:176920
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Abnormal aortic arch ... ORPHA:2059
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Ventricular septal defect, Atrial septal defect, Patent foramen... OMIM:618950
Transaldolase Deficiency
Atrial septal defect, Telangiectasia, Biventricular hypertrophy, Coarctation of aorta ORPHA:101028
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
Xk Aprosencephaly Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect ORPHA:3469
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... OMIM:100300
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy... OMIM:608751
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Neurooculorenal Syndrome
Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Stage 2 chronic kidney diseas... OMIM:620305
X-Linked Intellectual Disability, Schimke Type
Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ... ORPHA:85285
Joubert Syndrome 7
Central apnea, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, Renal cyst, Nephron... OMIM:611560
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Fragile X Syndrome
Mandibular prognathia, Ascending tubular aorta aneurysm, Sinusitis, Mitral valve prolapse ORPHA:908
Cardiomyopathy, Familial Hypertrophic, 16
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy OMIM:613838
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Intraalveolar phospholipid accumulation, Abnormal pulmonary in... ORPHA:217563
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Joubert Syndrome 20
Respiratory insufficiency, Renal cyst OMIM:614970
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P... ORPHA:508488
Distal Deletion 12Q
Ectopic kidney, Patent ductus arteriosus, Elbow flexion contracture, Biliary atresia, Annular pan... ORPHA:96149
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Pulmona... OMIM:601005
Noonan Syndrome 3
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... OMIM:609942
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydronephrosis ORPHA:251046
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary ar... ORPHA:488618
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Pu... OMIM:616897
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Chronic kidney disea... ORPHA:805
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop... OMIM:615474
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... ORPHA:2473
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Nephroblastoma, Ventricular septal defect, Leukemia OMIM:602501
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis OMIM:212780
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Short hallux OMIM:620393
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Vertebral cleft... OMIM:301043
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Meckel Syndrome, Type 4
Ventricular septal defect, Renal cyst, Bile duct proliferation, Atrial septal defect, Microphthalmia OMIM:611134
Tetraamelia Syndrome 2
Microretrognathia, Ventricular septal defect, Hypoplastic pulmonary veins, Micrognathia, Bilatera... OMIM:618021
Chime Syndrome
Ventricular septal defect, Aplastic clavicle, Supernumerary tooth, Tetralogy of Fallot, Aplasia/H... ORPHA:3474
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, Carious teeth, Patent ductus arteriosus, Dental malocclusio... OMIM:614976
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... OMIM:616730
Joubert Syndrome 37
Microphthalmia, Micropenis, Hydronephrosis, Hepatomegaly OMIM:619185
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Atrial septal defect, Hepato... OMIM:312870
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Nanophthalmos
Microphthalmia ORPHA:35612
Hydrocephaly-Low Insertion Umbilicus Syndrome
Abnormality of the urinary system, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmo... ORPHA:2184
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Patent ductus arteriosu... ORPHA:163956
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Zollinger-Ellison syndrome, Abnormal biliary tract morp... ORPHA:438274
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... ORPHA:98915
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Mitral valve prolapse ORPHA:2183
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality... ORPHA:1834
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Ventricular septal defect, Pect... OMIM:280000
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Thrombocytopenia, Giant platelets, C... OMIM:611209
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Left ventricular hypertrophy, Hypercalciuria ORPHA:251274
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, EMG: myopathic ab... OMIM:615418
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse ORPHA:3071
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Ventricular septal defect OMIM:618506
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Micrognathia, Patent ductus arteriosus, Atria... OMIM:618142
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Pedal edema, Edema, Malabsorption OMIM:152800
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria OMIM:274270
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... OMIM:612541
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis OMIM:616977
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... OMIM:619909
Cardiomyopathy, Familial Hypertrophic, 10
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Asymme... OMIM:608758
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Narrow palate, Cleft pa... OMIM:618223
Microphthalmia With Limb Anomalies
Microphthalmia, Interrupted inferior vena cava with azygous continuation, Anophthalmia, Camptodac... OMIM:206920
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia OMIM:245550
Monosomy 13Q34
Hematochezia, Common atrium, Epistaxis, Pulmonic stenosis ORPHA:96168
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... OMIM:602782
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine aminotransf... OMIM:618805
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Abnormal heart morphology ORPHA:531151
Distal Duplication 6P
Abnormal lung lobation, Renal hypoplasia, Abnormality of the urinary system, Aplasia/Hypoplasia a... ORPHA:1745
Verheij Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Renal cyst, ... OMIM:615583
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Tetralogy of Fallot, Hypospadias ORPHA:1381
Digeorge Syndrome
Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, Atelectasis, Patent duct... OMIM:188400
Charge Syndrome
Anophthalmia, Secundum atrial septal defect, Atrial septal defect, Pulmonary artery atresia, Micr... OMIM:214800
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Pectus excavatum, Patent ductus arteriosus, Mitral valve prolapse, Ureteral triplication, Hydrone... OMIM:104350
Peripartum Cardiomyopathy
Left atrial enlargement, Myocarditis, Dilated cardiomyopathy, Abnormal atrioventricular valve mor... ORPHA:563
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Respiratory tract infection, Elevated circulating a... ORPHA:308552
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Leukocytosis, Ischemic stroke, Abnormal cerebral artery morphology, Left ven... ORPHA:90065
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Asplenia, Cervical lymphadenopathy, Lymph... OMIM:614034
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar... ORPHA:3093
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Vascular dilatation, Varicose veins, Pulmonic stenosis, Aortic dissection OMIM:618343
Bronchogenic Cyst
Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnormal stomach morphology, Abnormal... ORPHA:2357
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Bicuspid aortic valve, Vent... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Bicuspid aortic valve, Vent... ORPHA:353277
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Panacinar emphysema, Bronchiectasis, Gastric varix, Chronic bronchitis OMIM:613490
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent ductus arteriosus, Respiratory failure, Atrial septal defect, Patent foramen ovale, Hydron... OMIM:620327
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Duane-Radial Ray Syndrome
Renal malrotation, Optic disc hypoplasia, Ventricular septal defect, Facial palsy, Renal agenesis... OMIM:607323
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:1692
Giant Cell Arteritis
Pericarditis, Renal insufficiency, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis,... ORPHA:397
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Apnea, Renal cyst OMIM:614883
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:614609
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat... OMIM:619355
Rhyns Syndrome
Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis ORPHA:140976
Cap Myopathy
Facial palsy, Central hypoventilation, Abnormal muscle fiber morphology, Lower limb amyotrophy, M... ORPHA:171881
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Atrial septal defect, Malar fl... OMIM:241310
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Pulmonary hypoplasia, Polycystic kidney dysplasia, Atrial septal defec... OMIM:263520
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Anencephaly 2
Anophthalmia OMIM:619452
Cirrhotic Cardiomyopathy
Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left v... ORPHA:57777
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
Kaposi Sarcoma
Generalized lymphadenopathy, Venous insufficiency, Abnormality of the spleen, Abnormal lung morph... ORPHA:33276
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology... ORPHA:2162
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia ORPHA:66625
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Micrognathia OMIM:243440
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620113
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,... OMIM:610443
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux ORPHA:228399
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... OMIM:243150
Pearson Syndrome
Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomegaly, Cardiomy... ORPHA:699
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Cardiomyopathy, Macroglossia, Calf muscle hypertrophy, Muscula... OMIM:613155
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias... OMIM:206900
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:615802
Distal Deletion 15Q
Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r... ORPHA:1596
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec... ORPHA:230851
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Vater/Vacterl Association
Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Patent d... OMIM:192350
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Ventricular septal defect, Aplasia/Hypoplasia of the fibula, Micrognathia... ORPHA:2256
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... OMIM:598500
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate amin... OMIM:243800
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Arterioven... ORPHA:974
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Knobloch Syndrome
Vesicoureteral reflux, Patent ductus arteriosus, Bifid ureter, Dextrocardia ORPHA:1571
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Lym... OMIM:602579
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, Patent ductus arteriosus, Tru... OMIM:617516
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Butterfly vertebral arch, Cholestasis, Abnormal form of ... ORPHA:52
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Abnormally large globe, Elb... OMIM:245600
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia, Flexion contracture, Limb hypertonia ORPHA:90322
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vita... OMIM:219700
Mucopolysaccharidosis, Type X
Thickened aortic valve cusp, Nephrolithiasis, Dermatan sulfate excretion in urine, Left ventricul... OMIM:619698
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Mitral valve prolapse ORPHA:90653
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Walker-Warburg Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Anophthalmia, Muscular dystrophy, Microphthalmia, A... ORPHA:899
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Micropenis OMIM:602361
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Abnormal renal morphology, Vesicoureteral refl... OMIM:609053
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, S... OMIM:235255
Idiopathic Pulmonary Arterial Hypertension
Chronic hemolytic anemia, Right ventricular hypertrophy, Abnormal jugular vein morphology ORPHA:275766
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... OMIM:314400
Penile Agenesis
Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena... ORPHA:49
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Micropenis, Pulmonary hypoplasia, Polycystic kidney dysplasia OMIM:616546
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Kleefstra Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Ventricular septal de... ORPHA:261494
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia of the clavicles, Multiple joint contractures, Dextrocardia, Camp... ORPHA:1662
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Atelis Syndrome 1
Atrial septal defect, Carious teeth, Ventricular septal defect, Bronchiectasis OMIM:620184
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Biconvex vertebral bodies, Ventricular septal defect,... OMIM:616651
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Prominent superficial veins, Aplasia/hypoplasia involving ... ORPHA:75508
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, H... OMIM:157800
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610759
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Stroke-like episode,... OMIM:222300
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Prune Belly Syndrome
Hydroureter, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, Congenital post... OMIM:100100
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Micrognathia, Carious teeth, Patent ductus arteriosus, Dental malocclu... OMIM:613680
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus ar... OMIM:121050
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... OMIM:210710
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lung mo... ORPHA:141127
Nanophthalmos 4
Microphthalmia OMIM:615972
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid... OMIM:146510
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnor... ORPHA:485405
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Recurrent pneu... OMIM:619769
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Horseshoe kidney OMIM:619318
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... OMIM:616145
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... OMIM:300707
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Cholestasis, Cardiomyopathy, Skeletal myopathy, Left ventricular hypertrophy, Dif... ORPHA:746
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect OMIM:617364
Fragile X Syndrome
Mandibular prognathia, Mitral valve prolapse OMIM:300624
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Neonatal respiratory distress, Ventricular septal defect, Hydronephrosis ORPHA:457193
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Frank-Ter Haar Syndrome
Ventricular septal defect, Micrognathia, Secundum atrial septal defect, Dental malocclusion, Mitr... OMIM:249420
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Melnick-Needles Syndrome
Vesicoureteral reflux, Recurrent respiratory infections, Abnormal cardiac septum morphology, Hydr... ORPHA:2484
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Ventricular septal defect, Unilateral renal agenesis OMIM:618504
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Orofaciodigital Syndrome I
Proteinuria, Vascular dilatation, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Hepa... OMIM:311200
Temtamy Syndrome
Microphthalmia, Aortic aneurysm ORPHA:1777
Kury-Isidor Syndrome
Ventricular septal defect, Hydronephrosis OMIM:619762
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... OMIM:611812
Cardiospondylocarpofacial Syndrome
Short palm, Failure of eruption of permanent teeth, Mitral valve prolapse ORPHA:3238
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... OMIM:618775
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Microphthalmia, Tetralo... ORPHA:2328
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Pne... ORPHA:99104
Toriello-Carey Syndrome
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog... ORPHA:3338
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Diastasis recti, ... ORPHA:2092
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... ORPHA:500159
Scleromyxedema
Abnormal coronary artery morphology, Transient ischemic attack, Raynaud phenomenon, Abnormal lung... ORPHA:167635
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pectus excavat... OMIM:235510
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myocardial fibrosis OMIM:613873
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Cofs Syndrome
Microphthalmia, Arthrogryposis multiplex congenita, Camptodactyly of finger ORPHA:1466
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ascending aorta hypoplasia, Flexion contracture, Knee flexion contracture, Diaphragmatic eventrat... OMIM:619503
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart, Micromelia ORPHA:2772
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Lymphadenitis, Abnormal lung morphology, Sterile pyur... ORPHA:449395
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Ventricular septal defect, Micrognathia ORPHA:93267
Joubert Syndrome 21
Anophthalmia, Splenomegaly, Renal cyst, Pulmonary hypoplasia, Hyperechogenic kidneys OMIM:615636
Brachydactyly, Type B1
Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the ... OMIM:113000
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis OMIM:616737
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar... OMIM:219730
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy of Fallot, Renal cyst, Coa... ORPHA:2044
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Death in infancy ORPHA:93946
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Reduced forced vital capacity, Respiratory insufficiency due to muscle... OMIM:619461
2Q24 Microdeletion Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:1617
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Persistence of primary teeth,... OMIM:300166
Noonan Syndrome 14
Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse OMIM:619745
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Muscular dystrophy OMIM:614830
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect OMIM:613870
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... ORPHA:79330
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Hematochezia, Gas... ORPHA:263665
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vert... OMIM:214300
Diaphanospondylodysostosis
Respiratory distress, Multiple renal cysts ORPHA:66637
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Mitral valve prolapse OMIM:606631
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Ventricular septal defect, Malabsorption, Patent ductus arteriosus, Exocri... ORPHA:452
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus OMIM:619143
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Cleft palate, Ectopic anus, Scoliosis, Cervical C2/C3 vertebral fusion... ORPHA:2345
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Lambotte Syndrome
Retrognathia, Ventricular septal defect OMIM:245552
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Atrial septal defect, Pulmonary arte... OMIM:616449
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Vici Syndrome
Lymphopenia, Recurrent respiratory infections, Dilated cardiomyopathy, Decreased proportion of CD... OMIM:242840
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Arterial dissection, Atrial fibrillation, Arterial tortuosity, Patent ductu... ORPHA:284984
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Hypoplasia of facial muscu... OMIM:164210
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Anophthalmia, Foot joint contra... ORPHA:90321
Zaki Syndrome
Patent ductus arteriosus, Renal agenesis, Patent foramen ovale, Hydronephrosis OMIM:619648
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegal... OMIM:614576
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Stroke, Precocious atherosclerosis, Mitral valve prolapse ORPHA:230839
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Left ... ORPHA:464738
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Left superior vena cava draining to coronary sinus, Camptodac... OMIM:611961
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurrent lower respiratory tra... OMIM:620233
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Codas Syndrome
Ventricular septal defect, Extrahepatic biliary duct atresia, Abnormal form of the vertebral bodi... ORPHA:1458
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Micrognathia ORPHA:398156
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Pneumothorax, Mitral valve prolapse, Asc... OMIM:614816
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:2869
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Patent foramen ovale, Hydronephrosis OMIM:619179
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati... OMIM:608328
Renal Agenesis
Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei... ORPHA:411709
Biemond Syndrome Type 2
Microphthalmia, Hypospadias ORPHA:141333
Fanconi Anemia, Complementation Group F
Pneumonia, Thrombocytopenia, Patent ductus arteriosus, Vesicoureteral reflux, Renal hypoplasia, L... OMIM:603467
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Recurrent pharyngitis, V... ORPHA:2331
Microphthalmia, Syndromic 5
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Ring Chromosome 7 Syndrome
Mandibular prognathia, Situs inversus totalis, Small hand, Short 5th finger, Malar flattening ORPHA:1449
Methimazole Embryofetopathy
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... ORPHA:1923
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Respir... OMIM:614922
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta... OMIM:600987
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Colitis,... OMIM:209920
Intellectual Disability, Buenos-Aires Type
Abnormal cardiac septum morphology, Hydronephrosis ORPHA:3079
Zellweger Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Respiratory insufficiency, ... ORPHA:912
Tarp Syndrome
Pectus excavatum, Subdural hemorrhage, Horseshoe kidney, Atrial septal defect, Tetralogy of Fallo... OMIM:311900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Atelis Syndrome 2
Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis OMIM:620185
Fabry Disease
Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Transient ischemic attack, ... ORPHA:324
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopathy, Respiratory fail... ORPHA:445038
Koolen-De Vries Syndrome
Ureteral duplication, Bicuspid aortic valve, Hypospadias, Pectus excavatum, Abnormal cardiac sept... ORPHA:96169
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Hajdu-Cheney Syndrome
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal cyst, Polycystic kidney d... OMIM:102500
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys... OMIM:618460
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... OMIM:618348
Genitopatellar Syndrome
Multicystic kidney dysplasia, Apnea, Pulmonary hypoplasia, Atrial septal defect, Hydronephrosis ORPHA:85201
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly... ORPHA:329971
Mckusick-Kaufman Syndrome
Hydroureter, Pulmonary hypoplasia, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephr... OMIM:236700
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Ventricular septal defect, Micromelia, Hypoplasia of the radius, Respirator... OMIM:617895
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... OMIM:617201
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Pulmonary artery stenos... OMIM:208050
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Coarctation ... OMIM:612474
Frontonasal Dysplasia 1
Tetralogy of Fallot, Pectoral muscle hypoplasia/aplasia, Camptodactyly, Microphthalmia, Joint con... OMIM:136760
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-r... OMIM:258450
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Splenomegaly, Pancreatic cysts, Thrombocytopenia, Abno... ORPHA:464329
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Pulmonary hypoplasia, Renal dysplasia OMIM:236500
Frank-Ter Haar Syndrome
Mandibular prognathia, Camptodactyly of finger, Delayed eruption of teeth, Mitral valve prolapse ORPHA:137834
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... ORPHA:324410
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Anemia OMIM:615085
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs... ORPHA:1488
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Micrognathia, Dyspnea, Patent ductus arteriosus, Mitral valve prolapse, Ri... ORPHA:555877
Lymphedema-Hypoparathyroidism Syndrome
Restrictive ventilatory defect, Pulmonary lymphangiectasia, Mitral valve prolapse OMIM:247410
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Micrognathia, Atrial septal defect, Hypomimic face OMIM:608572
Esophageal Atresia
Respiratory distress, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal reflux, A... ORPHA:1199
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Bicuspid aortic valve, Spontaneous pneumothorax, Arterial tortuosity, Desce... OMIM:610168
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611561
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Renal insufficiency, Neurog... ORPHA:90324
Charge Syndrome
Aortic arch aneurysm, Anophthalmia, Facial palsy, Patent ductus arteriosus, Horseshoe kidney, Abn... ORPHA:138
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu... OMIM:612863
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral... OMIM:123700
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Patent ductus arteriosus, Hydronephrosis, Increased mean platelet volume OMIM:300048
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... ORPHA:363618
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Watson Syndrome
Pulmonic stenosis OMIM:193520
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Aplasia of the thymus, Facial palsy, Prolonged neonatal jaundic... OMIM:620186
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, Hydronephrosis, Unilateral renal agenesis OMIM:609757
Alg3-Cdg
Coarctation of the descending aortic arch, Macroglossia, Cardiomyopathy, Decreased liver function... ORPHA:79321
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... ORPHA:1600
Netherton Syndrome
Recurrent respiratory infections, Ectopic kidney, Asthma, Aminoaciduria, Emphysema, Hydronephrosis ORPHA:634
Ogden Syndrome
Cardiogenic shock, Pulmonary artery stenosis, Ventricular septal defect, Arrhythmia ORPHA:276432
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, ... ORPHA:254892
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Macroglossia, Atrial septal de... OMIM:615668
Alveolar Echinococcosis
Liver abscess, Abnormal pericardium morphology, Portal hypertension, Cholangitis, Hepatic cysts, ... ORPHA:284
Constricting Bands, Congenital
Bladder exstrophy, Ectopia cordis, Abnormal lung lobation OMIM:217100
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... OMIM:175200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Patent ductus ... OMIM:614080
Erdheim-Chester Disease
Renal insufficiency, Abnormal pericardium morphology, Dysuria, Abnormal pulmonary interstitial mo... ORPHA:35687
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Short femoral neck, Camptodactyly o... ORPHA:2848
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... ORPHA:90003
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Filippi Syndrome
Ventricular septal defect, Serrated incisors OMIM:272440
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia, Small hand, Short... OMIM:617450
Lymphangiectasia, Pulmonary, Congenital
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... OMIM:265300
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Pierpont Syndrome
Microphthalmia, Micropenis OMIM:602342
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... ORPHA:1425
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Micrognathia, Recurrent upper respiratory tract infections, Contractur... ORPHA:3078
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Paten... ORPHA:141099
Tetrasomy 9P
Aplasia/Hypoplasia of the clavicles, Pericarditis, Hypoplastic scapulae, Myositis, Dextrocardia, ... ORPHA:3310
Joubert Syndrome 14
Intracranial hemorrhage, Microphthalmia, Ventricular septal defect, Renal cyst OMIM:614424
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy OMIM:102200
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hep... ORPHA:541423
Renal Hypoplasia, Bilateral
Neonatal respiratory distress, Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, R... ORPHA:97362
Boudin-Mortier Syndrome
Malar flattening, Aortic root aneurysm, Mitral valve prolapse OMIM:619543
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Pectus excavatum, Subdural hemorrhage, ... ORPHA:536545
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... ORPHA:261311
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Pulmonary artery ... ORPHA:3342
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect OMIM:619980
Axial Osteomalacia
Myopathy, Polycystic liver disease, Renal cyst OMIM:109130
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypospadias, Patent duc... OMIM:214100
Holt-Oram Syndrome
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a... OMIM:142900
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Patent ductus arteriosus, Micropenis, Microphthalmia, Aortic valve stenosis OMIM:243310
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Abnormality of the ... OMIM:244300
Joubert Syndrome 22
Microphthalmia, Renal hypoplasia OMIM:615665
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Neonatal respiratory distress, Scapular winging, Ventricular septal defect, Mi... OMIM:618870
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotr... OMIM:608779
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, Patent foramen ovale, Camptodactyly, Mitral valve prolapse OMIM:615539
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Foot oligodactyly, Amelia OMIM:601357
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Lower-limb joint contracture, Ventricular septal defect, Increased axial lengt... ORPHA:513456
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Short thumb, Patent ductus arteriosus, Mitral valve prolapse, Abnormal... ORPHA:2712
Neu-Laxova Syndrome 1
Ventricular septal defect, Micromelia, Micrognathia, Patent ductus arteriosus, Transposition of t... OMIM:256520
Char Syndrome
Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Patent ductus ar... ORPHA:46627
Chondrodysplasia, Blomstrand Type
Stillbirth, Preductal coarctation of the aorta OMIM:215045
Musculocontractural Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Functional abnormality of the bladder, Pneumothorax, Nephrolithi... ORPHA:2953
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Reduc... ORPHA:79284
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... ORPHA:97360
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... OMIM:616843
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... OMIM:615398
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog... ORPHA:453499
Femoral-Facial Syndrome
Renal agenesis, Ventricular septal defect, Abnormal renal collecting system morphology, Micropeni... OMIM:134780
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... OMIM:616894
Cohen Syndrome
Short metacarpal, Facial hypotonia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Mi... OMIM:216550
Cardiofaciocutaneous Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... ORPHA:1340
Roberts Syndrome
Progressive flexion contractures, Long penis, Knee flexion contracture, Polycystic kidney dysplas... ORPHA:3103
Seckel Syndrome 2
Microphthalmia, Hypospadias, Ectopic kidney OMIM:606744
Yellow Nail Syndrome
Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Hypoplasia of lymphatic vessels, Rhin... ORPHA:662
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Congenital muscular dystrophy ORPHA:324416
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Renal cyst, Horseshoe kidney ORPHA:166035
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... OMIM:612562
Fibular Hemimelia
Anophthalmia, Renal dysplasia, Thrombocytopenia, Abnormal heart morphology ORPHA:93323
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valv... OMIM:175050
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Teebi Hypertelorism Syndrome 1
Natal tooth, Ventricular septal defect, Micrognathia, Small hand, Aortic root aneurysm, Pulmonary... OMIM:145420
Cerebrofacioarticular Syndrome
Pulmonic stenosis, Abnormal heart morphology ORPHA:314679
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic fai... OMIM:615630
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly, Macroglossi... OMIM:617022
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Lymphangioleiomyomatosis
Abnormal urinary color, Recurrent respiratory infections, Renal neoplasm, Atelectasis, Dyspnea, E... ORPHA:538
Alg9-Cdg
Hepatomegaly, Torticollis, Hypoplasia of the bladder, Ventricular septal defect, Hepatic cysts, H... ORPHA:79328
Woods Syndrome
Ventricular septal defect OMIM:615236
Senior-Loken Syndrome 8
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts, Vascular dilatation OMIM:616307
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Mitral regurgitation OMIM:301039
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Camptodactyly of finger, Acute rhabdomyolysis ORPHA:48431
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:745
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Pulmonic stenosis OMIM:257300
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ... OMIM:617751
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:115150
Tarp Syndrome
Pectus excavatum, Horseshoe kidney, Pulmonary hypoplasia, Atrial septal defect, Tetralogy of Fall... ORPHA:2886
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Short ribs, Atrial sep... ORPHA:2519
Alagille Syndrome 1
Elevated hepatic transaminase, Ventricular septal defect, Butterfly vertebral arch, Hepatocellula... OMIM:118450
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:222470
Bresek Syndrome
Hypoplasia of the bladder, Optic nerve hypoplasia, Renal hypoplasia, Vesicoureteral reflux, Micro... ORPHA:85284
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Vacterl With Hydrocephalus
Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Pulmonary hypoplasia, Microphthalmia ORPHA:3412
Craniofacial Dyssynostosis With Short Stature
Malar flattening, Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:607721
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve, Abno... ORPHA:466791
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Cough, Abnormal vena cava morphology ORPHA:99868
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureteroc... ORPHA:79404
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Celiac disease OMIM:136140
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Ventricular septal defect, Micrognathia OMIM:616901
Ehlers-Danlos Syndrome, Classic Type, 1
Mitral valve prolapse, Aortic root aneurysm, Recurrent sinusitis, Recurrent lower respiratory tra... OMIM:130000
Geleophysic Dysplasia 2
Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Short foot, Aortic valve st... OMIM:614185
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse OMIM:225320
Refsum Disease
Skeletal muscle atrophy, Renal insufficiency, Splenomegaly, Cardiomyopathy, Microphthalmia ORPHA:773
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contr... OMIM:305620
Acrorenal-Mandibular Syndrome
Renal agenesis, Congenital diaphragmatic hernia, Elbow flexion contracture, Abnormality of the ur... OMIM:200980
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... ORPHA:1782
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Camptodactyly, Microphthalmia, Ao... OMIM:272950
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Respiratory insufficiency, Renal cyst, Coarctation of aorta, Mitral ste... OMIM:617260
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:603194
Bardet-Biedl Syndrome 1
Abnormality of the kidney, Biliary tract abnormality, Hepatic fibrosis, Left ventricular hypertro... OMIM:209900
Mucolipidosis Type Ii
Hip contracture, Recurrent respiratory infections, Abnormal mitral valve morphology, Diastasis re... ORPHA:576
Fanconi Anemia, Complementation Group B
Aplastic anemia, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheo... OMIM:300514
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Pierpont Syndrome
Microphthalmia ORPHA:487825
Primary Biliary Cholangitis
Portal hypertension, Celiac disease, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointestinal inf... ORPHA:186
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Mitral valve prolapse, Stroke, Decreased DLCO, Restrictive cardiomyo... OMIM:264800
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... OMIM:619542
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Sc... ORPHA:624
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Congenital contracture, Arth... ORPHA:115
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Hypospadias, Abnormal heart morphology, Vesicoureteral reflux, Microph... ORPHA:494344
Trisomy 8P
Abnormal atrioventricular connection, Fetal pyelectasis, Recurrent upper respiratory tract infect... ORPHA:264450
Opitz Gbbb Syndrome
Enlarged ovaries, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Patent... ORPHA:2745
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Renal hypop... OMIM:618454
Meckel Syndrome, Type 6
Absent gallbladder, Bilobed right lung, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplas... OMIM:612284
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Multip... ORPHA:1318
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Ventricular septal defect, Abnormal medullary pyramid morphology, ... ORPHA:79243
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Recombinant 8 Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... ORPHA:96167
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormal heart valve morphology, Ascending tubular aorta aneurysm, Pulmona... ORPHA:536471
Poland Syndrome
Duplicated collecting system, Hypospadias, Dextrocardia, Renal hypoplasia/aplasia, Vesicoureteral... ORPHA:2911
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Distal amyotrophy, Foot dorsiflexor weakness, Mitral valve prolapse ORPHA:98
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Coarctation of aorta,... ORPHA:268249
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Upper limb undergrowth, Lower limb hyperton... OMIM:169400
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis OMIM:617137
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, Hypoplasia of the abdom... OMIM:612289
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Transient is... ORPHA:774
Spondylo-Ocular Syndrome
Facial hypotonia, Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect ORPHA:85194
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Patent ductus arteriosus, Hydronephrosis, Atrial septal defect,... OMIM:300968
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic left heart, Apic... OMIM:301022
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Abnormal lung morphology, Flexion contracture, Hydronephrosis ORPHA:35173
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosi... OMIM:617913
Gm1 Gangliosidosis
Ventricular septal defect, Hyperlordosis, Splenomegaly, Patent ductus arteriosus, Kyphosis, Abnor... ORPHA:354
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Esophageal varix, Cirrh... OMIM:215600
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Pat... OMIM:227646
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Renal agenesis, Pat... OMIM:220500
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Stroke-like episode, Polycysti... ORPHA:137675
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, Atrioventricular canal defect ORPHA:2549
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Camptodactyly, Knee flexion contracture OMIM:619694
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Renal agenesis, Ectopic ki... OMIM:227645
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect OMIM:613792
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Abn... OMIM:227650
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Radio-Renal Syndrome
Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys... ORPHA:3015
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Pancytopenia, Dilated cardiomyopathy OMIM:618321
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Intr... OMIM:617093
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Lymphangioma, Arteriovenous malformation, Upper limb asymmetry ORPHA:137608
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis OMIM:614749
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro... OMIM:619991
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Retrognathia, Ventricular septal defect OMIM:612938
Diaphanospondylodysostosis
Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Respiratory insuff... OMIM:608022
Meckel Syndrome, Type 10
Hypospadias, Malformation of the hepatic ductal plate, Renal cyst, Camptodactyly, Micropenis OMIM:614175
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Varicose veins, Chylothorax, T... OMIM:153400
Von Willebrand Disease, Type 1
Aortic valve stenosis, Gastrointestinal angiodysplasia, Epistaxis, Mitral valve prolapse OMIM:193400
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Ventricular septal defect, Hydronephrosis OMIM:617798
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias, Increased hepatocellular lipid dro... OMIM:220111
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Ret... OMIM:600901
Cerebrooculofacioskeletal Syndrome 1
Flexion contracture, Elbow flexion contracture, Recurrent pneumonia, Knee flexion contracture, Ca... OMIM:214150
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, M... OMIM:613309
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Ventricular septal defect, Abnormal heart morphology, Macroglossia, Arthro... ORPHA:369891
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Persistence of primary teet... OMIM:610253
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Chops Syndrome
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, High, narrow palate, Anomalous... OMIM:616368
Baller-Gerold Syndrome
Abnormality of the ureter, Abnormal localization of kidney, Abnormal cardiac septum morphology, V... ORPHA:1225
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Mitral valve prolapse OMIM:229200
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Abnormal heart morphology ORPHA:254534
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Ritscher-Schinzel Syndrome 3
Death in infancy, Atrioventricular canal defect OMIM:619135
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Diamond-Blackfan Anemia 5
Ventricular septal defect, Hypospadias OMIM:612528
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Lissencephaly 8
Microphthalmia, Skeletal muscle atrophy OMIM:617255
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:743
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Rhabdomyosarcoma, Abnormal lung lobation, Coarctation of aorta, Acu... ORPHA:1052
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... ORPHA:209905
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse, Ascending tubular aorta aneurysm, Ureteropelvic... ORPHA:444072
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
3Q29 Microdeletion Syndrome
Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Subvalvular aortic stenosis, Microphthalmia ORPHA:65286
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Intestinal malrotation, Repeated pneumothoraces, Kyphosis, Coarctation... OMIM:617602
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Quadricuspid aortic valve, Muscle fiber splitting, Mitral valve prolapse OMIM:606408
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular ... ORPHA:1507
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intraventricu... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intraventricu... ORPHA:363958
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia, Recurrent upper respiratory tract infections, Camptodactyly, Micropenis, ... OMIM:612513
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Short clavicles, Short... OMIM:617159
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Hypospadias, Hydronephrosis, Abnormal cardiac septum morphology,... ORPHA:90652
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, Microphthalmia, Hydr... ORPHA:568
Gabriele-De Vries Syndrome
Facial hypotonia, Aortopulmonary collateral arteries, Distal arthrogryposis, Ureteropelvic juncti... OMIM:617557
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... OMIM:617914
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus, Velopharyngeal insufficiency, High palate, Gastroesophageal r... OMIM:617746
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Gastroesophageal refl... ORPHA:329224
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Respiratory insufficiency, Renal cyst ORPHA:2031
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Pectus excavatum, Patent ductu... ORPHA:464311
Mosaic Trisomy 16
Ventricular septal defect, Short thumb, Patent ductus arteriosus, Abnormal lung morphology, Abnor... ORPHA:1708
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Granulomatosis With Polyangiitis
Glomerulopathy, Pericarditis, Ureteral stenosis, Renal insufficiency, Proteinuria, Sinusitis, Epi... ORPHA:900
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Micrognathia, Mitral valve prolapse OMIM:300986
Neonatal Marfan Syndrome
Neonatal respiratory distress, Micrognathia, Abnormal cardiac ventricle morphology, Flexion contr... ORPHA:284979
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Scapular winging, Internal carotid artery dissection, Bicuspid ... OMIM:150230
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Abnormality of the ureter, Ventricular septal defect, Renal hypoplasia/aplasia ORPHA:1770
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitra... OMIM:617660
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Optic nerve hypoplasia, Fac... ORPHA:508498
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se... OMIM:300998
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Fle... OMIM:212065
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia, Muscular dystrophy OMIM:615181
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Marfan Syndrome
Mitral valve calcification, Spontaneous pneumothorax, Congestive heart failure, Descending aortic... ORPHA:558
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Cong... OMIM:601808
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Chylothorax, Pulmonic ... OMIM:163950
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, Retrognathia, Recurrent... OMIM:300472
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella... ORPHA:3320
Insulin-Like Growth Factor I, Resistance To
Ventricular septal defect, Micrognathia, Small hand, Short foot, Short finger, Atrial septal defe... OMIM:270450
Fraser Syndrome 1
Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, Renal hypoplasia, ... OMIM:219000
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Peripheral pulmonary artery stenosis ORPHA:436003
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Proteinuria, Elevated he... OMIM:619127
Fanconi Anemia, Complementation Group J
Microphthalmia, Bone marrow hypocellularity OMIM:609054
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Ventricular septal defect, Epi... ORPHA:26793
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Temtamy Syndrome
Microphthalmia, Aortic aneurysm OMIM:218340
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Myocardial infarction... ORPHA:904
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Apnea, Portal hypertension, Congenital hepatic fibro... ORPHA:1454
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Ventricular septal defect, Micrognathia, Atrial septal defect, Malar flatte... OMIM:610536
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... ORPHA:567983
Lowry-Maclean Syndrome
Atrioventricular canal defect, Coarctation of aorta ORPHA:2409
Micro Syndrome
Microphthalmia, Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuosity, Bradycardi... OMIM:614437
Melnick-Needles Syndrome
Recurrent respiratory infections, Ureteral stenosis, Pectus excavatum, Mitral valve prolapse, Tri... OMIM:309350
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Pancreatic Colipase Deficiency
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... ORPHA:309108
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis, Camptodactyly of finger OMIM:610756
Cerebellofaciodental Syndrome
Ventricular septal defect, Dental malocclusion, Shortening of all distal phalanges of the fingers... OMIM:616202
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... OMIM:177850
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Penoscro... OMIM:270400
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Hypospadias, Renal agenesis, Perimembranous ventricular septal defect,... OMIM:301040
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Large vessel vasculitis, Renovascular hypertensi... ORPHA:49041
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Conotruncal defect, Coarctation of aorta, Abnormal card... ORPHA:96147
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, N... OMIM:617729
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Abnormal lung lobation, Hypercalciuria, Renal cyst, Abnormal heart morp... ORPHA:369837
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Retrognathia, Ventricular septal defect ORPHA:52055
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Camptodactyly of finger, Hypoplasia of the musculature, Tricuspid valve prolapse, A... ORPHA:1101
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Recurrent pneumonia, Elbow flexion contracture, Mitral valve prolapse, Talipes equinovarus, Aorti... ORPHA:1900
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis, Camptodactyly of finger ORPHA:2083
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Hydronephros... OMIM:308050
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Intestinal malrotation, Kyphosis, Cleft palate, Abnormal heart morphol... ORPHA:404440
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Optic nerve hypoplasia, R... ORPHA:370959
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Congenital diaphragmatic hernia, Epispadias... ORPHA:2556
Costello Syndrome
Ventricular septal defect, Pneumothorax, Mitral valve prolapse, Pulmonic stenosis, Arrhythmia, At... OMIM:218040
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Abnormality of muscle size, Facial hypotonia, Hydronephrosis ORPHA:364028
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Short 2nd toe, Atrial septal defect, Malar f... OMIM:612582
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Gastrointestinal ... ORPHA:436252
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... ORPHA:818
Jacobsen Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Annula... ORPHA:2308
Arboleda-Tham Syndrome
Recurrent respiratory infections, Ventricular septal defect, Secundum atrial septal defect, Paten... OMIM:616268
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Micrognathia ORPHA:447980
Short Stature-Micrognathia Syndrome
Rhizomelia, Ventricular septal defect, Micrognathia, Skeletal muscle hypertrophy, Retrognathia OMIM:617164
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Pulmonary arteria... ORPHA:369929
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Renal cyst, Horseshoe kidney OMIM:250410
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Carotid artery stenosis, Micrognathia, Mitral valve prolapse, Aortic... OMIM:618000
Werner Syndrome
Miscarriage, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Myocardial infarc... ORPHA:902
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, E... OMIM:154700
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Pleural effusion, Chylothorax, Atrial septal defect, Microphthalmia, Leukemia ORPHA:2526
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria OMIM:258900
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Atrial septa... OMIM:617061
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Pectus excavatum, Patent ductu... ORPHA:464306
Hughes-Stovin Syndrome
Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... ORPHA:228116
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Abnormal mesentery mo... ORPHA:2075
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Duodenal polyposis, Stomach cancer, Adenomatous co... ORPHA:733
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
15Q14 Microdeletion Syndrome
Ventricular septal defect, Kyphosis, Cleft palate, Scoliosis, Atrial septal defect ORPHA:261190
Moebius Syndrome
Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly, Microphthalmia, Micro... OMIM:157900
Fanconi Anemia, Complementation Group R
Microphthalmia, Pelvic kidney, Bone marrow hypocellularity, Anemia OMIM:617244
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Chorde... OMIM:309801
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Flexion contracture, Retrognathia, Ventricular septal defect OMIM:617452
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Ventricular septal defect, Micrognathia, Short distal phalanx of the 5th finger... OMIM:620073
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Coarctation of aorta, Atrial... ORPHA:2008
10Q22.3Q23.3 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse ORPHA:276413
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Coarctation of aorta,... ORPHA:42775
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Ring Chromosome 10 Syndrome
Microphthalmia, Renal hypoplasia/aplasia ORPHA:1438
Orofaciodigital Syndrome V
Ventricular septal defect, Aganglionic megacolon, Hamartoma of tongue, Bifid tongue, Cleft palate... OMIM:174300
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... OMIM:614105
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypoplastic left heart OMIM:618829
Congenital Myopathy 12
Death in infancy, Pulmonary artery stenosis OMIM:612540
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Renal cyst OMIM:614862
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Diamond-Blackfan Anemia 4
Atrial septal defect OMIM:612527
Nephronophthisis 1
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... OMIM:256100
2P15P16.1 Microdeletion Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Camptodactyly of finger, Facial p... ORPHA:261349
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... ORPHA:199241
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Pulmonary artery stenosis, Abnormal cardiac septum morphology, Mitral atresia ORPHA:140952
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste... OMIM:235730
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia ORPHA:2250
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... ORPHA:363700
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Degcags Syndrome
Tachycardia, Ventricular septal defect, Pneumonia, Patent ductus arteriosus, Persistent left supe... OMIM:619488
Intellectual Developmental Disorder, Autosomal Dominant 47
Gastroesophageal reflux, Ventricular septal defect, Scoliosis OMIM:617635
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ... OMIM:617107
Dahlberg-Borer-Newcomer Syndrome
Short distal phalanx of finger, Mitral valve prolapse ORPHA:1563
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Pectus excavatum, Patent ductu... ORPHA:96121
Pelvis-Shoulder Dysplasia
Hydronephrosis, Bilateral microphthalmos, Camptodactyly of finger ORPHA:2839
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Fanconi Anemia
Leukopenia, Abnormality of the liver, Atrial septal defect, Hypospadias, Patent ductus arteriosus... ORPHA:84
Noonan Syndrome 13
Atrial septal defect, Micrognathia, Mitral valve prolapse OMIM:619087
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Abnormal internal carotid artery morphology, Abnormal lung morphology... ORPHA:97685
Congenital Myopathy 17
Respiratory tract infection, Renal hypoplasia, Respiratory insufficiency, Pulmonary hypoplasia, U... OMIM:618975
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Ascendin... OMIM:309520
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Parkes Weber Syndrome
Abnormal femoral metaphysis morphology, Peripheral arteriovenous fistula, Cerebral arteriovenous ... ORPHA:90307
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Renal hypoplasia ORPHA:264200
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... OMIM:137920
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Mitral valve prolapse ORPHA:309155
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Absent thumb, Short thumb, Patent ductus arteriosus, Hypopla... OMIM:147750
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Abnormal cerebral vascular morphology, Arterial stenosis, Mitral... ORPHA:758
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... OMIM:615512
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Ventricular septal defect, Micrognathia, Abnormal lung lobation, Coarctation of aorta... OMIM:614114
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... OMIM:194050
Fg Syndrome Type 1
Progressive flexion contractures, Micrognathia, Mitral valve prolapse, Coarctation of aorta, Pulm... ORPHA:93932
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality ... ORPHA:3380
Meester-Loeys Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti... OMIM:300989
Legius Syndrome
Paroxysmal atrial tachycardia, Non-small cell lung carcinoma, Pulmonic stenosis, Mitral valve pro... ORPHA:137605
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Vesicoureteral reflux, Micropenis, Pelvic kidney, Patent foramen ovale, Hydronep... OMIM:618653
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Horseshoe kidney, Ves... OMIM:619103
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Hepatitis, Cholestasis, Acute hepatic steatosis, Aortic atherosclero... ORPHA:209902
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Milroy Disease
Hydrocele testis, Varicose veins, Abnormal venous morphology ORPHA:79452
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Abnormal heart morphology, Tota... ORPHA:487796
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Limb joint contracture, Retrognathia, Ventricular septal defect ORPHA:505237
Lymphatic Malformation 13
Patent ductus arteriosus, Mitral regurgitation, Neonatal death, Atrial septal defect, Pulmonary a... OMIM:620244
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Microphthalmia, Proteinuria, Multiple bladder diverticula ORPHA:2728
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Multicystic kidney dysplasia, Abnormal lung lobation, Aplasia/Hypoplasia o... ORPHA:3301
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Distal Deletion 19P
Hypoplasia of the maxilla, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve pr... ORPHA:96129
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukocytosis OMIM:615673
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Perimembranous ventricular sep... OMIM:158170
1P36 Deletion Syndrome
Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Camptodactyly of fing... ORPHA:1606
Microsporidiosis
Sinusitis, Cholangitis, Pneumonia, Myocarditis, Abnormality of the spleen, Lymphadenitis, Periton... ORPHA:2552
Stickler Syndrome, Type I
Malar flattening, Micrognathia, Mitral valve prolapse OMIM:108300
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Proteinuria, Pan... OMIM:208500
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:614887
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Calcification of the aorta,... OMIM:231005
Hand-Foot-Genital Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Abnormality of the ur... ORPHA:2438
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis ORPHA:93260
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Atelectasis, Ren... OMIM:269860
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Renal hypoplasia/aplasia, Abnormal localization of kidney, ... ORPHA:3186
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux OMIM:615879
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholelithiasis OMIM:240300
Microphthalmia With Limb Anomalies
Venous insufficiency, Horseshoe kidney, Camptodactyly of 2nd-5th fingers, Microphthalmia, True an... ORPHA:1106
Neurofibroma
Kyphoscoliosis, Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal b... ORPHA:252183
Trisomy 20P
Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Abnormality of the ureter, Abnor... ORPHA:261318
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
De Barsy Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Ventricular septal defect, Patent duct... ORPHA:2962
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Nephrotic syndrome, H... ORPHA:110
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
8P11.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Micrognathia, Mitral valve prolapse ORPHA:251066
Shprintzen-Goldberg Syndrome
Apnea, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Missing ribs, Aplasia/Hy... ORPHA:2462
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Repeate... ORPHA:536467
Limb Body Wall Complex
Ventricular septal defect, Cleft palate, Abnormal heart morphology, Abnormality of the liver, Abn... ORPHA:2369
Warburg Micro Syndrome 4
Microphthalmia, Decreased muscle mass, Flexion contracture, Micropenis OMIM:615663
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis, Limb hypertonia ORPHA:488613
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mandibular prognathia, Aortic root aneurysm, Mitral valve prolapse ORPHA:449291
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Abnormal lung lobat... ORPHA:2052
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndactyly, Abnormality of the lymph... ORPHA:276280
Tuberous Sclerosis 1
Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary lymphangio... OMIM:191100
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Flexion contracture, Aplasia of the bladder, Abnorma... ORPHA:158684
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Acro-Renal-Ocular Syndrome
Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder div... ORPHA:959
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Respiratory insufficiency due to muscle weakness, Nephrolithia... ORPHA:18
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Gastroesophageal reflux, Scoliosis, Dysphagia, Patent foramen ovale OMIM:614961
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Ventricular septal defect, Hypoplasia of teeth OMIM:234050
Braddock-Carey Syndrome 2
Microphthalmia, Thrombocytopenia OMIM:619981
H Syndrome
Hallux valgus, Histiocytosis, Microcytic anemia, Recurrent pharyngitis, Bronchiectasis, Hepatospl... ORPHA:168569
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Malar flattening, Enamel hypoplasia, Mitral valve prolapse OMIM:618874
3Mc Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis OMIM:257920
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H... ORPHA:227990
Fanconi Anemia, Complementation Group N
Short thumb, Ventricular septal defect OMIM:610832
2Q37 Microdeletion Syndrome
Tracheomalacia, Multicystic kidney dysplasia, Abnormal aortic morphology, Nephroblastoma ORPHA:1001
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microphthalmia, Microcytic anemia OMIM:612379
Osteogenesis Imperfecta, Type I
Aortic aneurysm, Dentinogenesis imperfecta, Mitral valve prolapse OMIM:166200
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis OMIM:601539
Vitreoretinochoroidopathy
Microphthalmia, Retinal arteriolar constriction, Retinal arteriolar occlusion OMIM:193220
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Aortic valve calcific... ORPHA:2072
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Retrognathia, Ventricular septal defect ORPHA:217346
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Type 1 muscle fiber atr... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Type 1 muscle fiber atr... ORPHA:352665
Ulbright-Hodes Syndrome
Abnormal penis morphology, Respiratory distress, Pneumothorax, Renal hypoplasia, Respiratory fail... ORPHA:3404
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai... ORPHA:90349
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia, Facial hypotonia OMIM:614526
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Persi... OMIM:619268
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Vesicoureteral refl... OMIM:616975
Peters Plus Syndrome
Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ... ORPHA:709
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Pectus excavatum, Pneumothorax, Mitral valve prolapse, Nephrotic syndrome, Tricuspid valve prolap... OMIM:601776
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Intestinal malrotation, Portal hypertension, Cough, ... OMIM:613658
Stuve-Wiedemann Syndrome 1
Death in infancy, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Pulmonary arterial... OMIM:601559
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... OMIM:269200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:612530
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad... ORPHA:1358
Enlarged Parietal Foramina
Abnormal cerebral vein morphology, Broad thumb, Venous malformation ORPHA:60015
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H... ORPHA:227982
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca... OMIM:613254
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Varicose veins, Renal artery stenosis, Infertili... ORPHA:71273
Joubert Syndrome 2
Central apnea, Renal insufficiency, Episodic tachypnea, Renal cyst, Nephronophthisis, Neonatal br... OMIM:608091
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Flexion contracture, Optic nerve hypoplasia OMIM:614833
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormal heart valve morphology... ORPHA:77293
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Kyphosis, Cleft palate, Scoliosis, Atrial septal defect, Hepatic steat... ORPHA:254346
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis OMIM:619431
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equinus calcaneus, Elbow dislo... ORPHA:536532
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:619525
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Ventricular septal defect, Micrognathia, Cardiomegaly, Patent duct... ORPHA:96191
C Syndrome
Short metacarpal, Ventricular septal defect, Micromelia, Micrognathia, Patent ductus arteriosus, ... OMIM:211750
Lateral Meningocele Syndrome
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent duc... OMIM:130720
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Focal Dermal Hypoplasia
Ureteral duplication, Anophthalmia, Diastasis recti, Congenital diaphragmatic hernia, Horseshoe k... OMIM:305600
Adams-Oliver Syndrome 2
Microphthalmia, Limb hypertonia OMIM:614219
Cohen Syndrome
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Hypopl... ORPHA:193
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Hydronephrosis OMIM:302960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Flexion contracture, Muscular dystrophy, Abnormally large globe OMIM:615249
Wrinkly Skin Syndrome
Scapular winging, Muscular ventricular septal defect, Atrial septal dilatation, Hypoplasia of the... OMIM:278250
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Stroke, Mitral valve prolapse OMIM:236200
Al-Gazali Syndrome
Recurrent pneumonia, Hydronephrosis OMIM:609465
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Renal dysplasia, Abnormal heart morphology OMIM:618571
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Pulmonary artery stenosis ORPHA:435938
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Oligosacchariduria ORPHA:163649
Warburg Micro Syndrome 3
Microphthalmia, Decreased muscle mass, Flexion contracture, Micropenis OMIM:614222
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Flexion contracture, Ma... OMIM:147791
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Clapo Syndrome
Macrodactyly, Hemihypertrophy of upper limb, Varicose veins, Lymphangioma, Venous malformation ORPHA:168984
Bohring-Opitz Syndrome
Neonatal respiratory distress, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, M... OMIM:605039
Apert Syndrome
Overriding aorta, Ventricular septal defect, Hydronephrosis OMIM:101200
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Submucous cleft hard palate, ... ORPHA:457279
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Congenital diaphragmatic hernia, Micr... OMIM:154400
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... OMIM:618748
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Renal hypoplasia, Respiratory insufficiency, Renal cyst, Pulmonary hypo... OMIM:616300
Holoprosencephaly 9
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia OMIM:610829
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Upper limb undergrowth, Aortic root aneurysm, L... ORPHA:96201
Proteus-Like Syndrome
Venous insufficiency, Splenomegaly, Thymus hyperplasia, Bronchogenic cyst ORPHA:2969
Cousin Syndrome
Camptodactyly, Microphthalmia, Joint contracture of the hand, Wrist flexion contracture, Hydronep... OMIM:260660
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Multicystic kidney dysplasia, Ventricular septal defect, Tracheoma... ORPHA:1393
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Bilateral microphthalmos, Elbow flexion contracture, Knee flexion contra... OMIM:610758
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Bile duct prolifer... OMIM:618329
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Scoliosis, Venous malformation OMIM:612918
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ... OMIM:619329
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Radio-Tartaglia Syndrome
Retrognathia, Ventricular septal defect, Micrognathia OMIM:619312
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch, Facial hypotonia, Optic nerve hypoplasia, Unilateral renal agenesis ORPHA:457284
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Pulmonary arterial hyperten... ORPHA:314585
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Ventricular septal defect, Short ribs OMIM:615503
Webb-Dattani Syndrome
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis OMIM:615926
Campomelic Dysplasia
Tracheomalacia, Tracheobronchomalacia, Hydronephrosis, Respiratory insufficiency ORPHA:140
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Macroglossia, Re... OMIM:618268
Cornelia De Lange Syndrome 1
Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, Pneumonia, Abnormal renal mo... OMIM:122470
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:154230
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:614377
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Med... ORPHA:97289
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia, Congenital diaphragmatic hernia ORPHA:1915
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Foix-Alajouanine Syndrome
Female sexual dysfunction, Male sexual dysfunction, Arteriovenous fistula, Venous malformation ORPHA:79093
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Hip contracture, Interphalangeal joint contracture of finger, Ankle fl... OMIM:259600
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Hepatocellular adenoma, Renal cyst, Glycosuri... ORPHA:552
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Splenomegaly, Renal cyst, Cho... OMIM:261515
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Retrognathia, Aortic root aneurysm, Mitral valve prolapse OMIM:616914
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Ureteral duplication, Recurrent respiratory infections, Cholangitis, Pancreatic cys... OMIM:266920
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... ORPHA:500095
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia, Ventricular septal defect, Camptodactyly of toe ORPHA:251038
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Ventricular sep... ORPHA:79329
Donnai-Barrow Syndrome
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia, Short ster... OMIM:222448
Mosaic Trisomy 20
Ventricular septal defect, Micrognathia, Dysplastic tricuspid valve, Abnormal mitral valve morpho... ORPHA:1724
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Flexion contracture, Macroglossia, Camptodactyly, Flexion contracture of finger,... ORPHA:254528
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pa... ORPHA:2750
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Abnormal hemo... ORPHA:847
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Paranasal sinus hypoplasia, Ventricular septal defect, Apnea, Tracheomalacia, Microg... OMIM:300373
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Ventricular septal defect, Malar flattening, Micrognathia ORPHA:2789
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Distal renal tubular acidosis, Enlarged tonsils, Proximal renal tubul... ORPHA:2785
Martsolf Syndrome 1
Microphthalmia, Cardiomyopathy, Micropenis, Recurrent respiratory infections OMIM:212720
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Opitz Gbbb Syndrome
Ventricular septal defect, Hypospadias, Rectourethral fistula, Congenital posterior urethral valv... OMIM:300000
Joubert Syndrome 1
Central apnea, Episodic tachypnea, Renal cyst, Nephropathy, Neonatal breathing dysregulation OMIM:213300
Immunodeficiency 96
Recurrent lower respiratory tract infections, Multicystic kidney dysplasia OMIM:619774
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Finger joint hypermobility, Emphysema, Repeated pneumothoraces... OMIM:130050
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Ventricular septal defect, Carious teeth, Small hand, Short foot, Yell... OMIM:619229
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Loeys-Dietz Syndrome 5
Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus ... OMIM:615582
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Mitral valve prolapse, Camptodactyl... OMIM:182212
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction, Abnormal heart morphology ORPHA:1826
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia ORPHA:261250
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormal lung lobation, Abnormal loca... ORPHA:2166
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Aortic root aneurysm, Vesicoureteral refl... OMIM:616580
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Transient ischemic attack, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Recurrent respiratory infections, Ventricular septal defect, Peripheral pulmonary a... OMIM:619575
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Atrial septal defect, Phocomelia, Atrioventricular canal defect, Hypoplasia of the ... OMIM:274000
Schinzel-Giedion Syndrome
Hypospadias, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Abnorma... ORPHA:798
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Contracture of the distal interphala... ORPHA:83617
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... OMIM:263400
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Aspiration, Multiple renal cysts, Respiratory dis... OMIM:618733
Autosomal Recessive Spastic Paraplegia Type 20
Skeletal muscle atrophy, Dysuria, Upper limb muscle weakness, Distal amyotrophy, Hydronephrosis ORPHA:101000
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Prominent superficial veins, Hypoplasia of the maxilla, Pneumothorax, Mitr... OMIM:617402
Steinfeld Syndrome
Microphthalmia, Unilateral renal dysplasia, Absent gallbladder, Abnormal heart morphology OMIM:184705
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Facial palsy, Renal agenesis, Elbow flexion contracture, Renal cyst, M... OMIM:113620
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Fanconi Anemia, Complementation Group S
Microphthalmia, Anemia OMIM:617883
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Pneumonia, Carious teeth, Hypoplasia of the odontoid process, Flexion ... OMIM:253200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Hepatoblastoma, Splenopancreatic fusion, Macroglossi... OMIM:269150
Monosomy 18P
Microphthalmia ORPHA:1598
Tetraamelia Syndrome 1
Renal agenesis, Congenital diaphragmatic hernia, Asplenia, Peripheral pulmonary vessel aplasia, U... OMIM:273395
Combined Oxidative Phosphorylation Deficiency 15
Respiratory arrest, Ventricular septal defect, Ventricular septal hypertrophy, Small hand OMIM:614947
Kabuki Syndrome 1
Hemolytic anemia, Crossed fused renal ectopia, Ventricular septal defect, Autoimmune thrombocytop... OMIM:147920
Omodysplasia 1
Short humerus, Rhizomelia, Ventricular septal defect, Micrognathia, Pulmonary artery stenosis, Fi... OMIM:258315
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Ventricular septal defect, Ectopic kidney, Patent ductus arteriosu... OMIM:117650
Coffin-Siris Syndrome
Delayed eruption of teeth, Ventricular septal defect, Patent ductus arteriosus, Recurrent upper r... ORPHA:1465
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Recurrent bronchitis, Rhabdomyos... OMIM:251260
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Macrodactyly, Venous malformation OMIM:613089
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hypoplasia of the iris, Nephrotic ... OMIM:251300
Kaufman Oculocerebrofacial Syndrome
Neonatal respiratory distress, Ventricular septal defect, Micrognathia, Carious teeth, Coarctatio... OMIM:244450
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Distal 22Q11.2 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Aortic aneu... ORPHA:261330
Knobloch Syndrome 1
Duplicated collecting system, Patent ductus arteriosus, Phthisis bulbi, Macular hypoplasia, Bifid... OMIM:267750
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Dubowitz Syndrome
Hypospadias, Abnormality of neutrophils, Asthma, Respiratory insufficiency, Acute lymphoblastic l... ORPHA:235
Warburg Micro Syndrome 2
Microphthalmia, Micropenis, Flexion contracture OMIM:614225
Mosaic Trisomy 8
Vesicoureteral reflux, Arthrogryposis multiplex congenita, Camptodactyly of finger, Hydronephrosis ORPHA:96061
Immunodeficiency 49
Pulmonary artery stenosis OMIM:617237
Marshall-Smith Syndrome
Microretrognathia, Prominence of the premaxilla, Ventricular septal defect, Apnea, Hypoplasia of ... OMIM:602535
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Hypospadias, Recurrent upper respirat... OMIM:114290
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture, Stridor, As... OMIM:614653
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... ORPHA:261537
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Hypoplasia... OMIM:600373
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Lymphopenia, Neutropenia OMIM:616395
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short metacarpal, Micrognathia, Hypoplasia of the odontoid process, Recurrent pneumonia, Elbow fl... ORPHA:508533
Cockayne Syndrome
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Neurogenic bladder, Renal i... ORPHA:191
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Livedoid Vasculopathy
Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ... ORPHA:542643
Turnpenny-Fry Syndrome
Mandibular prognathia, Recurrent respiratory infections, Torticollis, Facial hypotonia, Patent du... OMIM:618371
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Myhre Syndrome
Mandibular prognathia, Ventricular septal defect, Pericardial effusion, Hypoplasia of the maxilla... OMIM:139210
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux OMIM:120200
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... ORPHA:90348
Pierson Syndrome
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Rieger anomaly, Hypoplasia of the ciliary b... OMIM:609049
Geleophysic Dysplasia 1
Tricuspid stenosis, Camptodactyly of finger, Short foot, Joint contracture of the hand, Aortic va... OMIM:231050
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Micrognathi... ORPHA:3047
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Macroglossia, Mesomelia, Paten... OMIM:613457
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice,... OMIM:613471
Larsen Syndrome
Vertebral fusion, Ventricular septal defect, Cervical kyphosis, Tracheomalacia, Cleft palate, Sco... OMIM:150250
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... ORPHA:261552
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malforma... ORPHA:1556
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Gastroesophageal reflux, Scoliosis, Atrial septal defect, Spina bifida... OMIM:617360
Mowat-Wilson Syndrome
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... ORPHA:2152
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,... OMIM:619522
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... OMIM:178110
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Ventricular septal defect, Mitral stenosis, Micrognathia, Absen... ORPHA:955
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Abnormal cardiac septum morphology ORPHA:1352
Sotos Syndrome
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Atrial septal defect, Hypospadi... ORPHA:821
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Patent duc... OMIM:616682
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Meige Disease
Varicose veins, Pleural effusion, Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Muscular dystrophy, Increased variability in muscle fiber diameter OMIM:616538
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... ORPHA:96334
Enthesitis-Related Juvenile Idiopathic Arthritis
Dilatation of the ventricular cavity, Mitral valve prolapse, Thickened Achilles tendon, Abnormal ... ORPHA:85438
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... ORPHA:512
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Micropenis OMIM:241410
Leigh Syndrome
Ventricular septal defect, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Ren... ORPHA:506
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Hydroureter, Ventricular septal defect, Hypospadias, Ectopic ki... OMIM:135900
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Retrognathia, Ventricular septal defect OMIM:212066
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Hypoplasia of mandible relative to maxill... ORPHA:33364
Noonan Syndrome
Pulmonary artery stenosis, Abnormal pulmonary valve morphology, Arrhythmia ORPHA:648
Raine Syndrome
Arthrogryposis multiplex congenita, Hydroureter, Pulmonary hypoplasia, Hydronephrosis OMIM:259775
Atelosteogenesis Type I
Multiple renal cysts, Pulmonary hypoplasia ORPHA:1190
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la... ORPHA:99228
Monosomy X
Bicuspid aortic valve, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la... ORPHA:881
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta OMIM:619480
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Ebstein anomaly of the tricuspid valve, Patent foramen ovale,... ORPHA:506358
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutrop... ORPHA:124
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect, Micrognathia, Dental malocclusion, Small hand, Short foot ORPHA:251028
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Peters-Plus Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:261540
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Pulmonary artery stenosis, Abnormal pulmonary valve morphology,... ORPHA:667
Von Hippel-Lindau Syndrome
Pancreatic cysts, Pulmonary capillary hemangiomatosis, Renal cell carcinoma, Multiple renal cysts... OMIM:193300
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Asthma, Moderate albuminuria, Hydronephrosis OMIM:619269
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... ORPHA:3472
Visceral Myopathy 1
Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis OMIM:155310
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Recurrent upper respiratory tract infections ORPHA:2399
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Hypospadias ORPHA:2505
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Micrognathia, Asthma, Patent ductus arteriosus, Small hand, Fibular hy... ORPHA:444077
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Renal hy... OMIM:309800
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Camptodactyly, Malar flat... OMIM:611962
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor... ORPHA:857
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta OMIM:617088
Osteogenesis Imperfecta
Abnormal endocardium morphology, Delayed eruption of teeth, Abnormality of dental color, Neonatal... ORPHA:666
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Pulmonary hypoplasia, Hydronephrosis OMIM:271520
Distal Deletion 3P
Atrioventricular canal defect ORPHA:1620
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Congenital malformation of the left heart, Dysplastic pulmonary valve, Pul... ORPHA:3455
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Lacunar stroke, Varicose veins, Stroke, Vascular granular osmiophilic material deposition OMIM:125310
Occipital Horn Syndrome
Hiatus hernia, Venous insufficiency, High, narrow palate, Jaundice, Kyphosis, Hepatitis, Cholesta... ORPHA:198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Buphthalmos, Skeletal muscle hypertrophy, Congeni... OMIM:613150
Osteogenesis Imperfecta, Type Vii
Death in infancy, Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Unilateral renal agenesis OMIM:620024
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Hepatoblasto... ORPHA:116
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrioventricular bl... OMIM:619573
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Breathing dysregulation OMIM:610688
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Joint contracture of the 5th finger OMIM:620098
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:99880
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis, Camptodactyly of finger ORPHA:284160
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Varicose veins, Oligozoospermia, Cryptorchidism OMIM:314300
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Oculodentodigital Dysplasia
Mandibular prognathia, Ventricular septal defect, Abnormal dental enamel morphology, Short hallux... ORPHA:2710
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Asthma, Stridor, Ureteropelvic junction obstruction, Hydronephrosis OMIM:616973
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Hypospadias, Horseshoe kidney, Knee flexion contracture, Total anomalous pulmonary v... OMIM:609945
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Microphthalmia, Micrope... OMIM:614083
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Parotitis, Lymphocytic interstitial pneumonia, Nonpr... ORPHA:289390
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Facial hypotonia, Micrognathia, Short thumb, Short toe, Small thenar e... OMIM:613458
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Micropenis, Camptodactyly OMIM:614230
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... ORPHA:143
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Macroglossia, Micrognathia, Mitral valve prolapse ORPHA:369950
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Abnormality of the upper limb, Arteriovenous malform... ORPHA:83454
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Hepatoblastoma, Cardiomegaly, Pancreatic hyperplasia, Nephrolithia... OMIM:130650
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Impaired renal concentrating ability, Stage 5 chronic kidney d... OMIM:610188
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula... ORPHA:459070
Genitopatellar Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Atrial septal defe... OMIM:606170
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... OMIM:604292
Rabson-Mendenhall Syndrome
Mandibular prognathia, Ventricular septal defect, Cardiomyopathy, Macroglossia, Atrial septal def... ORPHA:769
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Ulnar-Mammary Syndrome
Ventricular septal defect, Camptodactyly of finger, Aplasia of the pectoralis major muscle, Absen... ORPHA:3138
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Micrognathia, Short foot, Short palm, Atrial ... ORPHA:251014
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Ureteral obstruction, Carotid artery tortuosity OMIM:304150
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Ventricular septal defect, Camptodactyly of finger, Micrognathia, Patent d... ORPHA:261337
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla, Limb hypertonia, Ventricular septal defect, Small hand OMIM:609460
Zttk Syndrome
Absent gallbladder, Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Submucous clef... OMIM:617140
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Recurrent respiratory infections ORPHA:1806
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:261236
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Rodrigues Blindness
Microphthalmia OMIM:268320
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Hutchinson-Gilford Progeria Syndrome
Micrognathia, Intracranial hemorrhage, Persistence of primary teeth, Short clavicles, Carotid art... ORPHA:740
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Hypoplasia of the thymus, Vesicoureteral... ORPHA:1896
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Macroglossia, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Microgna... ORPHA:1071
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Renal insufficiency, Hypospadias, Apnea, Tachypnea, Renal corti... ORPHA:397715
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Recurrent respiratory infections, Proteinuria, Atelectasis, ... ORPHA:534
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Homozygous Familial Hypercholesterolemia
Premature arteriosclerosis, Precocious atherosclerosis, Abnormal internal carotid artery morpholo... ORPHA:391665
Liposarcoma
Varicose veins ORPHA:69078
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia, Renal hypoplasia OMIM:607932
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Recurrent respiratory infections, Hydroureter, Renal agenesis, Hydr... OMIM:129900
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Short toe, Patent ductus arteriosus, Atrial septal defect, Advanced er... ORPHA:1519
Premature Aging Syndrome, Penttinen Type
Microphthalmia, Prominent superficial veins, Joint contracture, Flexion contracture of finger OMIM:601812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Buphthalmos, Congenital contracture, Microphthalmia, Congenital muscular ... OMIM:236670
Menkes Disease
Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Arterial stenosis, Intracranial... ORPHA:565
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy OMIM:300952
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Asthma, Recurrent pneumonia, Hydronephrosis, Recurrent bronchitis OMIM:620330
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... OMIM:600376
Spondyloocular Syndrome
Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve OMIM:605822
Proteus Syndrome
Decreased muscle mass, Thymus hyperplasia, Enlarged polycystic ovaries, Splenomegaly, Lymphangiom... ORPHA:744
Varicose Veins
Varicose veins OMIM:192200
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Micrognathia, Aplasia of the distal phalanx of the 5th toe, Ventricula... OMIM:608670
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Autosomal Dominant Spastic Paraplegia Type 10
Varicose veins, Dupuytren contracture, Upper limb amyotrophy ORPHA:100991
White-Kernohan Syndrome
Hydroureter, Hydronephrosis, Horseshoe kidney OMIM:619426
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Pallister-Hall Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Patent ductus ... ORPHA:672
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Hypoplasia of the iris, Microphthal... OMIM:133540
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Hypoventilation, Elevated hepatic transaminase, Microvesicul... OMIM:203700
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Facial palsy, Carious teeth, Small hand, Mitral valve prolapse,... OMIM:615873
Atypical Werner Syndrome
Premature arteriosclerosis, Skeletal muscle atrophy, Prominent superficial veins, Abnormal cerebr... ORPHA:79474
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Unilateral Polymicrogyria
Stroke, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Abnormal heart valve morphology, Arterial dissection, Transient... ORPHA:286
Ulnar-Mammary Syndrome
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Ventricular septal defect, Aplasia o... OMIM:181450
Monosomy 9Q22.3
Microphthalmia, Nephroblastoma, Cardiac fibroma, Rhabdomyosarcoma ORPHA:77301
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Flexion contracture OMIM:601675
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Ventricular septal defect, Patent foramen ovale, Micropenis OMIM:613884
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature ORPHA:33001
Microcephaly-Micromelia Syndrome
Microphthalmia, Pulmonary hypoplasia OMIM:251230
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Hypospadias, Optic nerve hypoplasia, Ankle flexion contracture, Camp... ORPHA:468631
Bartsocas-Papas Syndrome 1
Ectopic kidney, Patent foramen ovale, Flexion contracture, Microphthalmia, Micropenis, Arthrogryp... OMIM:263650
Oculodentodigital Dysplasia
Atrial septal defect, Microphthalmia, Neurogenic bladder, Joint contracture of the 5th finger OMIM:164200
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... OMIM:301044
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Patent ductus arteriosus, Hydronephrosis, Cardiomyopathy, Atrial septal defect, Recurrent upper a... ORPHA:480880
Treacher-Collins Syndrome
Microphthalmia, Patent ductus arteriosus, Hypoplasia of penis, Hypoplasia of the thymus ORPHA:861
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Short metacarpal, Ventricular septal defect, Bicuspid aortic valve, Micrognathi... OMIM:271640
Ohdo Syndrome, X-Linked
Microphthalmia, Micropenis OMIM:300895
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Frontorhiny
Microphthalmia, Camptodactyly of finger ORPHA:391474
Stickler Syndrome
Skeletal muscle atrophy, Recurrent respiratory infections, Abnormal dental enamel morphology, Mic... ORPHA:828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia, Muscular dystrophy OMIM:614643
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Hypoplasia of the iris, Acute lymphoblastic leukemia, Microphthalmia OMIM:223370
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Dyspnea, Respirat... ORPHA:2636
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Ventricular septal defect, Micrognathia, Supernumerary tooth, Pat... OMIM:615948
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... OMIM:259770
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Trisomy 10P
Absent gallbladder, Decreased muscle mass, Abnormality of the kidney, Abnormal heart morphology, ... ORPHA:171929
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect,... OMIM:607872
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Pectoral muscle hypoplasia/aplasia, Tetralogy of Fallot, Camptodactyly of finger ORPHA:306542
Pseudoaminopterin Syndrome
Asplenia, High palate, Patent foramen ovale ORPHA:221120
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Respiratory insufficie... ORPHA:93271
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Spondylocarpotarsal Synostosis Syndrome
Restrictive ventilatory defect, Renal cyst OMIM:272460
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Otopalatodigital Syndrome, Type Ii
Hypospadias, Respiratory insufficiency, Respiratory failure, Atrial septal defect, Dilatation of ... OMIM:304120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Muscular dystrophy OMIM:615287
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Orofaciodigital Syndrome Type 2
Atrioventricular canal defect, Central retinal vessel vascular tortuosity ORPHA:2751
Classical Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Mitral valve prolapse, Pulp calcification, Aortic roo... ORPHA:287
Mend Syndrome
Microphthalmia, Aortic valve stenosis, Limb hypertonia, Abnormal heart morphology ORPHA:401973
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Hallermann-Streiff Syndrome
Microphthalmia, Recurrent pneumonia, Recurrent respiratory infections OMIM:234100
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Monosomy 9P
Microphthalmia, Ureteropelvic junction obstruction, Hypospadias, Congenital diaphragmatic hernia ORPHA:261112
Basal Cell Nevus Syndrome 1
Microphthalmia, Cardiac fibroma, Cardiac rhabdomyoma OMIM:109400
Monosomy 22Q13.3
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis ORPHA:48652
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Ventricular septal defect, Abnormal pulmonary valve morpholog... ORPHA:268261
Cranioectodermal Dysplasia 3
Peripheral pulmonary artery stenosis OMIM:614099
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Incontinentia Pigmenti
Microphthalmia, Eosinophilia, Camptodactyly of finger ORPHA:464
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:1236
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Bicarbonaturia, Proximal renal t... OMIM:309000
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr... OMIM:107480
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Leukocytosis, Eosinophilia OMIM:308300
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Patent ductus arteriosus, Renal hypoplasia, Hydronephrosis ORPHA:2363
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Insulin-Resistance Syndrome Type B
Pneumonia, Biliary cirrhosis, Leukopenia, Abnormal salivary gland morphology, Thrombocytopenia ORPHA:2298
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Hypospadias, Optic nerve hypoplasia, Renal cyst ORPHA:495875
Orofaciodigital Syndrome Type 14
Microretrognathia, Supernumerary tooth, Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Holoprosencephaly 1
Microphthalmia, Micropenis, Single ventricle OMIM:236100
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Early Infantile Epileptic Encephalopathy
Micropenis, Ventricular septal defect, Renal dysplasia, Ureterocele ORPHA:1934
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Hydroureter, Camptodactyly of finger, Abnormality of the upper ... ORPHA:2273
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Ventricular septal defect, Bicuspid aortic valve, High, narrow pal... OMIM:619475
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Annular pancreas OMIM:268400
Hypermobile Ehlers-Danlos Syndrome
Apnea, Malabsorption, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Asce... ORPHA:285
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Yunis-Varon Syndrome
Micrognathia, Short metatarsal, Absent hallux, Aspiration pneumonia, Patent foramen ovale, Absent... OMIM:216340
Robinow Syndrome, Autosomal Dominant 1
Macroglossia, Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Aicardi Syndrome
Hepatoblastoma, Microphthalmia, Recurrent pneumonia OMIM:304050
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Hypospadias, Ureterocele OMIM:616734
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Micropenis, Hypospadias OMIM:603457
Aicardi Syndrome
Hepatoblastoma, Microphthalmia ORPHA:50
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Homocystinuria OMIM:601552
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Short palm OMIM:619727
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... OMIM:175780
Familial Cerebral Cavernous Malformation
Venous malformation, Scoliosis, Cerebral hemorrhage ORPHA:221061
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Congen... ORPHA:199
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Anemia OMIM:127000
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Recurrent u... OMIM:308205
Witteveen-Kolk Syndrome
Hypospadias, Congenital diaphragmatic hernia, Phimosis, Contracture of the distal interphalangeal... OMIM:613406
Pallister-Killian Syndrome
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Coarctation of aort... OMIM:601803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Muscular dystrophy OMIM:253280
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:1308
Gitelman Syndrome
Pericardial effusion, Varicose veins, Iron deficiency anemia, Neoplasm of the pancreas ORPHA:358
Isolated Arrhinia
Microphthalmia ORPHA:1134
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos OMIM:610828
Neuroocular Syndrome
Hypoplasia of the fovea, Scapular winging, Lens coloboma, Microphthalmia, Patent foramen ovale OMIM:619539
Norrie Disease
Venous insufficiency, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:649
Holoprosencephaly 2
Microphthalmia, Single ventricle OMIM:157170
Monosomy 13Q14
Microphthalmia ORPHA:1587
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Proteinuria, Pericardia... ORPHA:79318
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Treacher Collins Syndrome 1
Bilateral microphthalmos, Abnormal heart morphology OMIM:154500
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Anemia ORPHA:93325

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dnah11

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dnah11.

No publications found that use IMPC mice or data for Dnah11.

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MGI Allele Allele Type Produced
Dnah11tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dnah11tm176704(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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