Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
proteasome (prosome, macropain) activator subunit 4
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Psme4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Psme4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... OMIM:605376
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Hypothyroidism, Bronchiectasis, Goiter, Right aortic arch OMIM:617577
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, Ob... ORPHA:399805
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Maternal diabetes, Patent ductus arteriosus, Pulmonary arter... ORPHA:1208
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia, Heterotaxy OMIM:601086
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Unilateral cryptorchidism, Access... OMIM:618280
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... OMIM:615482
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return, Recurrent respiratory infections OMIM:106700
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... ORPHA:244
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... OMIM:615067
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Hypoplastic left heart, Heterotaxy, Pulmonic s... ORPHA:3426
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricular septal defect, Polysple... OMIM:306955
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Bronchiectasis OMIM:611884
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... ORPHA:52901
Dextrocardia
Congenital malformation of the great arteries, Abnormality of the spleen, Abnormal lung lobation,... ORPHA:1666
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... ORPHA:1686
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Unilateral vertebral artery hypoplasia OMIM:613686
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Transposition of the great arteries, Atrioventricular canal defect OMIM:314390
Diabetic Embryopathy
Tetralogy of Fallot, Abnormality of the pancreas, Ventricular septal defect, Abnormality of the p... ORPHA:1926
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:618063
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Abnormal tricuspid valve morphology, Hepatomegaly ORPHA:1759
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... ORPHA:1727
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis OMIM:614679
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Stroke, Myofiber disarray, Pulmonary edema, Muscular ventricular septal... OMIM:115197
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... OMIM:601186
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory i... OMIM:616037
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Cryptorchidism, Patent ductus arteriosus, Anterior hypopituitarism ORPHA:2863
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Heterotaxy, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Poly... OMIM:613807
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Cryptorchidism, Tetralogy of Fallot OMIM:615542
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... OMIM:619371
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Maternal diabetes, Mitral atresia,... ORPHA:2248
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... ORPHA:320391
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... OMIM:619910
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Fadd-Related Immunodeficiency
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
Catel-Manzke Syndrome
Coarctation of aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Overriding aorta OMIM:616145
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Muscular ventricular septal defect OMIM:620062
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Arteria lusoria, Mitral valve prola... OMIM:212093
Johnson Neuroectodermal Syndrome
Hypogonadotropic hypogonadism, Ventricular septal defect, Patent ductus arteriosus, Decreased tes... OMIM:147770
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... ORPHA:980
Ciliary Dyskinesia, Primary, 22
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Re... OMIM:615444
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Over... OMIM:601927
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... OMIM:613426
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia, Abnormal aortic morphology ORPHA:3405
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Biliary atresia, Ventricular sept... ORPHA:2255
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Ventricular septal defect, Pulmonary hypoplasia, Overriding aorta, Card... OMIM:617022
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Hypogonadotropic hypogonadism, Pulmonary artery hypoplasia, Anomal... ORPHA:2326
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Patent duc... ORPHA:1880
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... OMIM:615415
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Cryptorchidism, Patent foramen ovale OMIM:616789
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Pulmonic stenosis, Cholestasis, Situs inversus totali... OMIM:615382
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Double aortic arch, Recurrent upper respiratory tract inf... ORPHA:95430
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... OMIM:265380
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Cryptorchidism, Atrioventricular cana... ORPHA:251071
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Cryptorchidism, Pulmonic stenosis, Tetralogy... ORPHA:3304
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Perimembranou... ORPHA:363444
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Hypoparathyroidism, Double aortic arch, Tetralogy of Fal... OMIM:192430
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Transposition of the great arteries, Perimembranous ventricular septal defect OMIM:617877
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Hepatic cysts, Situs inversus totalis, Dextrocardia, Jaundice OMIM:613095
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Dextrocardia, Pulmonary hypoplasia, Pneumothorax, Abnormal pulmona... ORPHA:2257
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Dysplastic pulmonary valve, Mitral valve prolapse, Patent ductus arteriosus... OMIM:612863
Poland Syndrome
Dextrocardia OMIM:173800
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Thoracoabdominal Syndrome
Pulmonary hypoplasia, Patent ductus arteriosus, Transposition of the great arteries, Ectopia cordis OMIM:313850
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Syndromic Diarrhea
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Atrial septal defect, Lymphopenia, H... ORPHA:84064
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Conotruncal defect, Atrioventricular canal defect ORPHA:40366
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:249670
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Dextroc... OMIM:264480
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... OMIM:614954
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Weiss-Kruszka Syndrome
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Muscular ventricular septal defect, Hypochromic microcytic anem... ORPHA:66634
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:300991
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Recurrent lower respiratory tr... OMIM:612541
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot ORPHA:251076
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Spermatogenic Failure 28
Azoospermia, Decreased testicular size OMIM:618086
Klippel-Trénaunay Syndrome
Atrial septal defect, Peripheral arteriovenous fistula, Hepatomegaly, Microcytic anemia, Patent d... ORPHA:90308
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:477817
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia OMIM:229070
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Myeloprolifer... OMIM:190685
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Patent ductu... OMIM:117550
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect, Vascular ring OMIM:603387
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Bilateral lung agenesis, Patent ductus arteriosus, Coarctatio... OMIM:601612
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Atrioventricular canal defect, Coarctation of aorta, Dextrocardia, Cryptorc... OMIM:618929
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Carpenter Syndrome 1
Precocious puberty, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Ventricular sep... OMIM:201000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Stroke, Atrial septal defect, Ventricular septal defect, Situs inversus tot... OMIM:249270
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation wit... OMIM:300400
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Hypogonadism OMIM:615994
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Wolcott-Rallison Syndrome
Double outlet right ventricle, Exocrine pancreatic insufficiency, Atrial septal defect, Lymphocyt... ORPHA:1667
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:608644
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis OMIM:620032
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Nodular goiter, Prema... ORPHA:371428
Mirror Movements 3
Situs inversus totalis OMIM:616059
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Macrocytic anemia, Ventricular septal defect, Dextrocardia, C... OMIM:614294
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular se... ORPHA:391641
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... ORPHA:2306
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Mosaic Trisomy 9
Atrial septal defect, Abnormal liver lobulation, Endocardial fibroelastosis, Ventricular septal d... ORPHA:99776
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... OMIM:228300
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Ventricular septal defect, Thrombocytosis, I... OMIM:243150
Alg12-Cdg
Muscular ventricular septal defect, B lymphocytopenia, Elevated hepatic transaminase, Biventricul... ORPHA:79324
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Bronchitis, Patent ductus arterio... OMIM:601005
Thakker-Donnai Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot ORPHA:1780
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Atrial septal defect, Hepatic failure, Elevated he... OMIM:614886
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Persisten... OMIM:609008
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy OMIM:614676
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Noonan Syndrome 3
Tricuspid valve prolapse, Atrial septal defect, Pulmonic stenosis, Juvenile myelomonocytic leukem... OMIM:609942
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Thrombocytopenia, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:617021
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Tetralogy o... OMIM:612561
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Hypoplasia of the thymus, Intrahepatic biliary dysgenesis, Cryptorchidism, Jaundice... OMIM:214110
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis OMIM:615451
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Tetralogy of Fallot, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Cry... ORPHA:96092
Distal Trisomy 5Q
Ventricular septal defect, Dextrocardia, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, C... OMIM:267010
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Atrioventricular canal defect, Elevated circulating aspartate aminotransferase conc... OMIM:619534
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypogonadism OMIM:615985
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Premature Ovarian Failure 10
Hypoplasia of the ovary, Primary amenorrhea, Decreased testicular size, Azoospermia, Premature ov... OMIM:612885
Floating-Harbor Syndrome
Precocious puberty, Atrial septal defect, Cryptorchidism, Coarctation of aorta, Tetralogy of Fall... ORPHA:2044
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Abnormality of the pancrea... ORPHA:2315
Ciliary Dyskinesia, Primary, 15
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm OMIM:613808
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Mass Syndrome
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm OMIM:604308
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:2412
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Aortic valve stenosis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Cir... OMIM:208540
10Q22.3Q23.3 Microdeletion Syndrome
Tricuspid valve prolapse, Breast aplasia, Patent ductus arteriosus, Atrioventricular canal defect ORPHA:276413
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Short Rib-Polydactyly Syndrome
Hepatic cysts, Situs inversus totalis, Hepatic fibrosis, Transposition of the great arteries, Abn... ORPHA:1505
Adams-Oliver Syndrome 6
Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncus arteriosus OMIM:616589
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Partia... OMIM:619343
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Hypoplastic nipples, Ventricular septa... OMIM:280000
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... ORPHA:2209
Floating-Harbor Syndrome
Atrial septal defect, Coarctation of aorta, Persistent left superior vena cava, Cryptorchidism, M... OMIM:136140
Ellis Van Creveld Syndrome
Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Ventricular septal defect, S... ORPHA:289
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Hepatomegaly, Pulmonic stenosis, Leukopenia, Pulmonary artery atre... OMIM:301056
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Ebstein anomaly of the tri... OMIM:611878
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Abnormal cardiac ventricle morphology, Mitral valve prolapse, Aortic ro... ORPHA:284979
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... OMIM:253800
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly OMIM:619881
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism, Muscular ventricular septal defect OMIM:618569
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Partial di... ORPHA:2847
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Atrial septal defect, Abnormal aortic valve morphology, Abnormal heart morphology ORPHA:261197
Renpenning Syndrome
Diabetes mellitus, Decreased testicular size, Heterotaxy ORPHA:3242
Marden-Walker Syndrome
Dextrocardia, Cryptorchidism, Pulmonary hypoplasia OMIM:248700
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Hepatomegaly, Micronodular cirrhosis, Splenomegal... OMIM:606003
Diets-Jongmans Syndrome
Ventricular septal defect, Cryptorchidism, Interrupted inferior vena cava with azygous continuati... OMIM:618846
Ciliary Dyskinesia, Primary, 27
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respir... OMIM:615504
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Ciliary Dyskinesia, Primary, 28
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respir... OMIM:615505
Digeorge Syndrome
Hydrocele testis, Cholelithiasis, Ovarian cyst, Ventricular septal defect, Interrupted aortic arc... OMIM:188400
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Polysplenia, Primum atrial septal defect, Situs inversus t... OMIM:619608
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Hypoparathyroidism, Atrial septal defect, Decreased response to gr... OMIM:618223
Distal Monosomy 19P13.3
Tricuspid valve prolapse, Ventricular septal defect, Pulmonary valve atresia ORPHA:96129
Hypoglossia With Situs Inversus
Situs inversus totalis, Polysplenia, Asplenia OMIM:612776
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Phaver Syndrome
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia ORPHA:2876
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Peritoneal abscess, Ventricular septal defect, Hepatitis, Type I diabet... ORPHA:436252
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... ORPHA:449400
Czeizel-Losonci Syndrome
Dextrocardia, Pulmonary hypoplasia, Hypoplastic nipples ORPHA:2437
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... ORPHA:7
Cardiospondylocarpofacial Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Patent foram... OMIM:157800
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... ORPHA:330015
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Pulmonic s... OMIM:610205
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... OMIM:613834
Alg3-Cdg
Decreased liver function, Abnormality of the endocrine system, Coarctation of the descending aort... ORPHA:79321
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:617092
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Aortic valve stenosis, Coarctation of aorta, Interrupted aortic arch, A... ORPHA:2396
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale OMIM:617044
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Double outlet right ventricle, Peripheral pulmonary artery stenosis, Tetralogy o... ORPHA:163956
Kawasaki Disease
Leukocytosis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... ORPHA:2331
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Facial Dysmorphism With Multiple Malformations
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot OMIM:227255
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic va... ORPHA:210122
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Coarctation of aorta, Ventricular septal defect, Hypothyroidism... ORPHA:1923
Monosomy 18Q
Absence of the pulmonary valve, Aortic valve stenosis, Secundum atrial septal defect, Dysplastic ... ORPHA:1600
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Bronchiectasis, Pneumonia, Recurrent sinusitis OMIM:612444
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Knobloch Syndrome
Dextrocardia, Lymphangioma, Patent ductus arteriosus ORPHA:1571
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis OMIM:614017
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot ORPHA:2184
22Q11.2 Deletion Syndrome
Tricuspid atresia, Cholelithiasis, Ventricular septal defect, Abnormality of the tonsils, Hypopar... ORPHA:567
Charge Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Parathyroid hypoplasia, Double outle... OMIM:214800
Mosaic Trisomy 20
Ventricular septal defect, Abnormal mitral valve morphology, Cryptorchidism, Dysplastic tricuspid... ORPHA:1724
Joubert Syndrome With Ocular Defect
Dextrocardia, Abnormality of the hypothalamus-pituitary axis ORPHA:220493
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Mitral valve prolapse, Hepatic cysts OMIM:173900
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Double outlet right ventricle, Hypoplastic left heart, Cryptorchidism, Muscular ventricular septa... OMIM:619503
Cardiac Valvular Dysplasia, X-Linked
Mitral valve prolapse, Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Sho... OMIM:314400
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... ORPHA:99095
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Lymphatic Malformation 7
Pulmonary edema, Atrial septal defect, Anemia, Varicose veins, Pericardial effusion OMIM:617300
Marfan Syndrome
Tricuspid valve prolapse, Mitral annular calcification, Bicuspid aortic valve, Pneumothorax, Mitr... OMIM:154700
Cat Eye Syndrome
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Biliary atres... OMIM:115470
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Recurrent pneumonia, Bronchiecta... OMIM:608647
Microphthalmia, Syndromic 2
Double outlet right ventricle, Adrenal insufficiency, Aortic valve stenosis, Atrial septal defect... OMIM:300166
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Decreased response to growth hormone stimulation test, Abnormal intrahepati... ORPHA:485405
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Ebstein anomaly of the tricuspid valve OMIM:608980
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Ciliary Dyskinesia, Primary, 19
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respir... OMIM:614935
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
46,Xx Sex Reversal 5
Ventricular septal defect, Increased serum testosterone level, Secundum atrial septal defect, Hyp... OMIM:618901
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Cryptorchidism, Coarctation of aorta OMIM:616559
Transketolase Deficiency
Atrial septal defect, Hepatomegaly, Abnormal coronary artery course, Ventricular septal defect, P... ORPHA:488618
Angioosteohypertrophic Syndrome
Tricuspid valve prolapse, Peripheral arteriovenous fistula, Venous insufficiency ORPHA:2346
Fryns Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Pulmona... ORPHA:2059
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Atrial septal defect, Cryptorchidism, Supernumerary nipple, Right ventricular hypertrophy, Left v... ORPHA:466791
Phace Association
Anomalous branches of internal carotid artery, Congenital hypothyroidism, Coarctation of aorta, V... OMIM:606519
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Abnormal anatomic location of the heart, Situs inversus ... ORPHA:2461
Distal Monosomy 15Q
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... ORPHA:1596
Restrictive Dermopathy
Atrial septal defect, Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Congenital a... ORPHA:1662
Loeys-Dietz Syndrome 6
Carotid artery dilatation, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Vertebral artery ... OMIM:619656
Familial Bicuspid Aortic Valve
Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... ORPHA:402075
Distal Tetrasomy 15Q
Hydrocele testis, Atrial septal defect, Pulmonary hypoplasia, Patent ductus arteriosus, Hypoplast... ORPHA:314588
Aminopterin/Methotrexate Embryofetopathy
Ventricular septal defect, Pulmonary artery atresia, Tetralogy of Fallot, Situs inversus totalis ORPHA:1908
Viss Syndrome
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Ventricular septal defe... OMIM:619472
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus ORPHA:261337
Storm Syndrome
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... OMIM:185069
Pentalogy Of Cantrell
Atrial septal defect, Abnormal pericardium morphology, Tetralogy of Fallot, Ventricular septal de... ORPHA:1335
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, Atrial septal defect, Mitral valve prolapse, Patent ductus arteriosus, ... OMIM:618371
20Q13.33 Microdeletion Syndrome
Hypoplastic aortic arch, Abnormal cardiac ventricle morphology, Atrial septal defect, Dilation of... ORPHA:261311
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Right aortic arch, Pineal cyst ORPHA:513456
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Subdural hemorrhage, Cerebral hemorrhage, Dextrocardia, Aortic aneurysm, A... ORPHA:536545
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Atrial septal defect, Decreased response to growth hormone stimulation test, Hepat... OMIM:602782
Geleophysic Dysplasia 2
Mitral stenosis, Hepatomegaly, Aortic valve stenosis, Tricuspid stenosis, Mitral valve prolapse OMIM:614185
Neu-Laxova Syndrome 1
Ventricular septal defect, Pulmonary hypoplasia, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:256520
Rubinstein-Taybi Syndrome 1
Vascular ring, Atrial septal defect, Hypoplastic left heart, Cryptorchidism, Premature thelarche,... OMIM:180849
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased hematocrit, Glucagonoma, Hepatic fai... ORPHA:100076
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Hypoplastic left heart, Ventricular septal defect, Patent ductus a... OMIM:301043
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Normochromic anemia, Reticulocytopenia, Elevated re... OMIM:615550
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Atrial septal defect, Congenital hypothyroidism, Tetralogy of Fallot, Abno... OMIM:607872
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Cryptorchidism ORPHA:1101
Tetrasomy 9P
Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Cryptorchidism, Biliary atr... ORPHA:3310
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Recurrent intrapulmonary hemorrhage, Intracranial he... ORPHA:906
Frank-Ter Haar Syndrome
Double outlet right ventricle, Atrial septal defect, Secundum atrial septal defect, Ventricular s... OMIM:249420
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Mitral valve prolapse, Pulmonary lymphangiectasia OMIM:247410
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... ORPHA:99094
Carpenter Syndrome 2
Atrial septal defect, Cryptorchidism, Supernumerary nipple, Hypoplastic nipples, Situs inversus t... OMIM:614976
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Varicose veins OMIM:153400
Ileal Neuroendocrine Tumor
Increased serum serotonin, Extrahepatic cholestasis, Hepatic failure, Tricuspid stenosis, Pulmoni... ORPHA:100078
Jejunal Neuroendocrine Tumor
Increased serum serotonin, Extrahepatic cholestasis, Hepatic failure, Tricuspid stenosis, Pulmoni... ORPHA:100077
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Coarctati... OMIM:616564
Simpson-Golabi-Behmel Syndrome, Type 1
Atrial septal defect, Supernumerary nipple, Hepatomegaly, Right ventricular hypertrophy, Pulmonic... OMIM:312870
Meier-Gorlin Syndrome 7
Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal defect, Pulmonar... OMIM:617063
Holoprosencephaly 14
Ventricular septal defect, Aortic valve atresia, Double outlet right ventricle OMIM:619895
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus, Abnormally low T cell ... OMIM:242700
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, A... OMIM:600460
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries, Bronc... ORPHA:2969
Melnick-Needles Syndrome
Tricuspid valve prolapse, Mitral valve prolapse, Recurrent respiratory infections OMIM:309350
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valve pr... OMIM:175050
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Tricuspid valve prolapse, Atrial septal defect, Mitral valve prolapse, Pneumothorax, Cryptorchidism OMIM:601776
Wrinkly Skin Syndrome
Cryptorchidism, Atrial septal dilatation, Muscular ventricular septal defect OMIM:278250
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Polycystic liver disease, Abnormal systemic arterial morph... ORPHA:730
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Abdominal aortic aneurysm, Aortic arch aneurysm, Aortic root aneurysm, Cor... OMIM:617168
De Barsy Syndrome
Prominent veins on trunk, Cryptorchidism, Recurrent sinopulmonary infections, Ventricular septal ... ORPHA:2962
Ataxia-Telangiectasia
Lymphopenia, Hypoplasia of the thymus, T lymphocytopenia, Recurrent lower respiratory tract infec... OMIM:208900
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Coarctatio... ORPHA:353281
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Mitral valve prolapse, Dilated card... ORPHA:2556
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Arterial dissection, Arteriovenous fistula, Mitral valve prolapse, Dila... ORPHA:287
Diamond-Blackfan Anemia 1
Atrial septal defect, Congenital hypoplastic anemia, Tricuspid stenosis, Coarctation of aorta, Ve... OMIM:105650
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Coarctation of aor... OMIM:617506
Poland Syndrome
Atrial septal defect, Dextrocardia, Diabetes mellitus, Cryptorchidism, Acute leukemia, Abnormalit... ORPHA:2911
Vater/Vacterl Association
Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Tetralo... OMIM:192350
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of medium-sized arteries, Cerebral hemorrhage, Mitral valve prolapse, Premat... OMIM:177850
Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Absent gallbladder, Patent ductus arteriosus, Cr... OMIM:300712
Pagod Syndrome
Hypoplastic left heart, Abnormality of the spleen, Situs inversus totalis, Pulmonary artery hypop... ORPHA:991
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypoplasia, Tetralogy of Fa... OMIM:617925
Gjc2-Related Late-Onset Primary Lymphedema
Hypoplasia of lymphatic vessels, Varicose veins, Venous insufficiency, Abnormal lymphatic vessel ... ORPHA:568051
Congenital Tricuspid Stenosis
Tricuspid stenosis ORPHA:95459
Congenital Tracheal Stenosis
Hypoplastic left heart, Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary... ORPHA:141127
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Recurrent bronchitis, Pneumonia, Bronchiectasis, Asplenia OMIM:244400
Mucopolysaccharidosis Type 2
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Peripheral arterial stenos... ORPHA:580
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Adrenocorticotropic hormone excess, Ovarian neoplasm, Hepatomegaly, Tr... ORPHA:100079
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Cryptorchidism, Intracranial hemorrhage, Thrombocytopenia, Ventricular sept... ORPHA:163979
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Pat... OMIM:618748
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia, Pulmonary artery stenos... OMIM:611812
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Breast hypoplasia, Patent ... ORPHA:506358
Hamamy Syndrome
Hypoparathyroidism, Atrial septal defect, Hypochromic anemia, Complete atrioventricular canal def... OMIM:611174
Treacher-Collins Syndrome
Hypoplasia of the thymus, Abnormality of the adrenal glands, Patent ductus arteriosus, Thyroid hy... ORPHA:861
Mucopolysaccharidosis Type 2, Severe Form
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Peripheral arterial stenos... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Peripheral arterial stenos... ORPHA:217093
Constricting Bands, Congenital
Abnormal lung lobation, Ectopia cordis OMIM:217100
Geleophysic Dysplasia 1
Tricuspid stenosis, Mitral stenosis, Hepatomegaly, Aortic valve stenosis OMIM:231050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hydrocele testis, Bicuspid aortic valve, Abnormal subclavian artery morphology, Aortic valve sten... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hydrocele testis, Bicuspid aortic valve, Abnormal subclavian artery morphology, Aortic valve sten... ORPHA:353277
Craniofacial Microsomia
Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, P... OMIM:164210
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Coarctation of aorta, Elevated hepatic transaminase, Interrupted aortic arch, Paten... ORPHA:17
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Pulmonary artery aneurysm, Ascending aortic dissecti... OMIM:609192
Loeys-Dietz Syndrome 2
Carotid artery dilatation, Bicuspid aortic valve, Atrial septal defect, Generalized arterial tort... OMIM:610168
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Abnormality of the hepatic vasculature, Hepatomegaly, Right ventricular... ORPHA:1677
Autosomal Recessive Robinow Syndrome
Abnormal pulmonary valve morphology, Atrial septal defect, Cryptorchidism, Tetralogy of Fallot, V... ORPHA:1507
1Q21.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Cryptorchidism, Interrupted aortic arch, Patent ductus arteri... ORPHA:250989
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Abnormal venous morphology, Mitral valve prolapse, Aortic dissection, Vascul... ORPHA:1900
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Secundum atrial septal defect, Prominent scalp veins, Hypopla... OMIM:264090
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology ORPHA:199276
Milroy Disease
Abnormal venous morphology, Hydrocele testis, Varicose veins ORPHA:79452
Diphallia
Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Bifid penis, Ecto... ORPHA:227
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased circulating ... OMIM:146510
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... ORPHA:192
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia ORPHA:228123
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eosinop... OMIM:102700
Thymic Aplasia