Gene Summary

Name:
PR domain containing 1, with ZNF domain
Synonyms:
Blimp-1,  b2b1765Clo,  Blimp1,  PRDI-BF1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Prdm1em1(IMPC)Bay HOM   Early adult 0.00

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Viewing: all phenotypes

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 Prdm1 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 Prdm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism, 2-4 toe syndactyly, Syndactyly OMIM:241000
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 4
Azoospermia OMIM:270960
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve, Aortic root aneurysm OMIM:618496
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Aortic an... OMIM:614980
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspid valve mo... OMIM:616749
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
Postaxial Tetramelic Oligodactyly
Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology, Abnormality of finger ORPHA:2730
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral a... ORPHA:2248
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Situs inversus totalis OMIM:617577
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Brachydactyly, Oligodactyly, Ectrodactyly, Talipes equinovarus, Split hand OMIM:612576
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG level, Abnormally l... OMIM:618987
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Young Syndrome
Azoospermia OMIM:279000
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve, Coarctation of aorta OMIM:614823
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic ... OMIM:618845
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Patent ductus arteriosus, Atrial septal defect, Vascular ring, Ventricular sept... OMIM:601927
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Lambert Syndrome
Branchial anomaly, Hypospadias, Intrauterine growth retardation ORPHA:1296
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Thoracic aortic aneurysm, Patent ductus arteriosus, Descendin... OMIM:132900
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Aortic root aneurysm, Abnormal coronary artery morphology, Ventr... ORPHA:3400
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Partial atrio... ORPHA:1330
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia OMIM:616873
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Transient neutropenia, Agammagl... OMIM:619707
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Thrombocytopenia, Anemia, B lymphocytope... ORPHA:169079
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Short 4th metacarpal, Cubitus valgus... ORPHA:2183
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Patent ductus arteriosus, A... ORPHA:860
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis OMIM:601322
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus OMIM:615703
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Tricuspid atresia, Atrial septal defect, Partial anomalous pulmonary venous ... OMIM:617478
Tibial Hemimelia
Cryptorchidism, Radial club hand, Mesomelic leg shortening, Short tibia, Ambiguous genitalia, Hip... ORPHA:93322
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Scimitar anomaly, Dextrocard... OMIM:608978
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level, Absent circ... OMIM:613500
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Trans... ORPHA:261243
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormality of the ulna, Abnormal metacarpal morphology, Hand oli... ORPHA:3104
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Oligodactyly, Humeroradial synostosis OMIM:614416
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormality of the ulna, Cryptorchidism, Aplasia/Hypoplasia of the thumb, Oligodactyly, Tarsal sy... ORPHA:1307
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Atrial Septal Defect 1
Atrial septal defect, Subvalvular aortic stenosis, Atrial septal dilatation, Ventricular septal d... OMIM:108800
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect OMIM:212090
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Camptodactyly of finger, Azoospermia, Rocker bottom foot, Cubitus ... ORPHA:261519
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Tetralogy of Fallot, Subvalvular aortic stenosis, Pulmonary artery atresia, Ventricular septal de... OMIM:108900
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:612692
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Ring Chromosome 21 Syndrome
Clinodactyly, Infertility, Diabetes insipidus, Amenorrhea, Azoospermia, Narrow palm, Small hand, ... ORPHA:1445
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Aplasi... ORPHA:52056
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Leukocytosis, Reduced natural k... OMIM:619281
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Multiple palmar creases, Preaxial polydactyly, Mesomelic leg short... ORPHA:2756
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to protein-conjugated polysaccharide vaccine, Decreased prop... ORPHA:70593
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Short phalanx of finger, Hypergonadotropic hypogonadism, Abnormal hand morphology, S... OMIM:300845
Fibular Hemimelia
Fibular hypoplasia, Abnormal morphology of ulna, Short tibia, Short toe, Arthralgia of the hip, G... ORPHA:93323
Isolated Split Hand-Split Foot Malformation
Split hand, Oligodactyly, Finger syndactyly, Absent hand ORPHA:2440
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Infertility OMIM:602390
Johnson Neuroectodermal Syndrome
Right aortic arch, Ventricular septal defect, Patent ductus arteriosus OMIM:147770
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Cryptorchidism, Azoosperm... ORPHA:432
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Heterotaxy, Visceral, 2, Autosomal
Mesocardia, Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Left atrial isom... OMIM:605376
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... ORPHA:93320
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Double... OMIM:618316
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
48,Xyyy Syndrome
Primary gonadal insufficiency, Azoospermia, Dislocated radial head, Radioulnar synostosis, Male h... ORPHA:99329
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double out... ORPHA:3304
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis, Hypo... OMIM:220210
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Thoracic aortic aneurysm, Left superior vena cava draining directly to ... OMIM:619657
Tetramelic Monodactyly
Split hand, Split foot, Foot monodactyly, Hand monodactyly OMIM:187510
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Cryptorchidism, Ankle flexion contracture, Knee flexion contracture, Pulmonary ar... ORPHA:435938
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus ORPHA:2578
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Patent ductus arteriosus OMIM:300049
Double Outlet Right Ventricle
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta, Hypo... ORPHA:3426
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Single transverse palmar crease, Fibular hypoplasia, Triphalangeal thumb, Oligodact... OMIM:201170
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Coarctation of aorta, Hypoplastic left heart, ... ORPHA:402075
X-Linked Mandibulofacial Dysostosis
Webbed neck, Cryptorchidism, Pulmonic stenosis, Abnormality of the pulmonary artery, Branchial an... ORPHA:1131
Microphthalmia, Syndromic 9
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Coarctati... OMIM:601186
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:607594
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypothyroidism, Hypoplasia of the ulna, Finger syndac... ORPHA:3258
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Neutropenia... OMIM:619705
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Oligodactyly, Hypoplasia of the radius, Perineal fistula, Ectrodactyly ORPHA:3016
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary artery hypoplasia, Double outlet right ventricle, Right aortic ... ORPHA:2326
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 3rd toe, Clinodactyly of the 5th finger, Oligodactyly, Abnormality of the upp... ORPHA:521308
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Velocardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia, Double aortic arch, Int... OMIM:192430
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Patent duc... OMIM:610338
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Increased serum testosterone level, Oligospe... ORPHA:8
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double outlet right ventricl... OMIM:179613
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Coarct... ORPHA:980
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... OMIM:618969
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Syndactyly, Distal shortening of limbs, Decreased response to... OMIM:146510
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lack of T cell function, B lymphocytopenia, Lymphopenia, Increased circulating... ORPHA:277
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hypoplasia of th... OMIM:603554
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Tetralogy of Fallot, Persistent left superior ve... OMIM:614954
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, Abno... ORPHA:477817
48,Xxyy Syndrome
Infertility, Cryptorchidism, Azoospermia, Clinodactyly of the 5th finger, Abnormal shoulder morph... ORPHA:10
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, B lymphocytopenia, Perianal abscess, Par... OMIM:618108
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Dextrocardia, Single ventricle, Ventricular se... ORPHA:216694
Congenital Tracheomalacia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Partial anomalous pulmonary ... ORPHA:95430
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac a... ORPHA:2306
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormon... ORPHA:280679
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Ciliary Dyskinesia, Primary, 40
Azoospermia, Absent outer dynein arms, Infertility OMIM:618300
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Lymphadenitis, Partial absence ... OMIM:618986
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Aortic Arch Interruption
Aortic valve atresia, Patent ductus arteriosus, Aortopulmonary window, Double outlet right ventri... ORPHA:2299
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Dilated left subclavian artery, Aortic... ORPHA:449400
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
48,Xxxy Syndrome
Infertility, Small scrotum, Coxa valga, Abnormality of epiphysis morphology, Cryptorchidism, Azoo... ORPHA:96263
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Eosinophilia, Reduced red cell adenosine deaminase level, Autoim... OMIM:102700
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Congenital Aortic Valve Stenosis
Aortic valve atresia, Thoracic aortic aneurysm, Endocardial fibroelastosis, Dysplastic aortic val... ORPHA:3093
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, Thoracic aortic aneurysm OMIM:616166
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells, Agammaglobulinemia OMIM:619693
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement OMIM:615377
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Small hypothenar eminence, Primary amenorrhea, Cryptorchidism, Decreased serum estra... ORPHA:2232
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
49,Xxxxy Syndrome
Infertility, Small scrotum, Coxa valga, Abnormality of epiphysis morphology, Cryptorchidism, Azoo... ORPHA:96264
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Double outlet right ventricle, Coarctation of aorta, Ventricular septal def... ORPHA:371428
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Microcephaly-Micromelia Syndrome
Absent radius, Oligodactyly, Micromelia, Short tibia, Humeroradial synostosis, Forearm undergrowt... OMIM:251230
Cardiac Diverticulum
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Mitral stenosis, Ventricular septal... ORPHA:1686
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Abnormality of... OMIM:246570
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Coarctation o... ORPHA:261183
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Ventric... ORPHA:1461
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Total anomalous pulmonary venous return, Patent ductus arteriosus, Double... OMIM:270100
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Fixed Subaortic Stenosis
Patent ductus arteriosus, Bacterial endocarditis, Pulmonic stenosis, Coarctation of aorta, Abnorm... ORPHA:3092
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Split foot, Hand monodactyly OMIM:183800
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Primary Ciliary Dyskinesia
Situs inversus totalis, Double outlet right ventricle, Abnormal atrial arrangement, Abnormal hear... ORPHA:244
Maternal Phenylketonuria
Tetralogy of Fallot, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left heart,... ORPHA:2209
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular... ORPHA:1166
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation ORPHA:1110
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Bicuspid aortic valve, Patent ductus arteriosus OMIM:613355
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, Patent foramen ovale, Patent duct... OMIM:619343
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, E... ORPHA:1772
Immunodeficiency 92
Decreased circulating IgG level, Leukocytosis, Thrombocytosis, Decreased circulating IgA level, B... OMIM:619652
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Bartsocas-Papas Syndrome 1
Absent thumb, Hypoplastic labia majora, Absent palmar crease, Absent radius, Micropenis, Short me... OMIM:263650
Branchiootic Syndrome
Facial palsy, Branchial fistula ORPHA:52429
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Abdominal aortic aneurysm, Aortic root aneurysm, Coronary artery atheroscle... OMIM:617168
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level ORPHA:217390
Limb-Mammary Syndrome
Aplasia of the uterus, Toe syndactyly, Primary amenorrhea, Absent nipple, 3-4 finger cutaneous sy... ORPHA:69085
Bloom Syndrome
Decreased fertility in females, Cryptorchidism, Clinodactyly of the 5th finger, Azoospermia, Hand... OMIM:210900
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormal aortic valve morphology, Coarctation of ... ORPHA:1120
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Microgastria-Limb Reduction Defect Syndrome
Rectovaginal fistula, Phocomelia, Aplastic clavicle, Oligodactyly, Perineal fistula, Short thumb,... ORPHA:2538
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly, Testicular atrophy OMIM:601163
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, Patent foramen ovale, Paten... OMIM:239711
Nephronophthisis 16
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmonic stenosis,... OMIM:615382
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Hypoplastic left heart, Ventricular septal defect, Transposition of the grea... ORPHA:1727
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle OMIM:614886
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Abnormal heart morphology, P... ORPHA:2847
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Ring Chromosome 22 Syndrome
Azoospermia, Large hands, 2-3 toe syndactyly ORPHA:1446
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Conotruncal defect, Atrial septal defect, Situs in... ORPHA:3097
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Pulmonary ... OMIM:613426
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Hadziselimovic Syndrome
Tetralogy of Fallot, Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, V... OMIM:612946
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Bic... ORPHA:284169
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defec... ORPHA:2041
Pallister-Hall Syndrome
Primary adrenal insufficiency, Mesoaxial polydactyly, Cryptorchidism, Panhypopituitarism, Supernu... ORPHA:672
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating dehydroepiandrosterone concentration, Testicular adr... ORPHA:361
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Atrial septal defect, Supracardiac total anomalous pulmonary venous con... ORPHA:99125
Microphthalmia With Limb Anomalies
Toe syndactyly, Single transverse palmar crease, Hand oligodactyly, Postaxial foot polydactyly, F... OMIM:206920
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Aplasia of the ulna, Hand oligodactyly OMIM:276822
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Absent forearm, Aplasia/Hypoplasia of the ... OMIM:119100
Laubry-Pezzi Syndrome
Patent foramen ovale, Abnormal aortic valve cusp morphology, Patent ductus arteriosus, Aortic val... ORPHA:99094
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Azoospermi... ORPHA:300298
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Hand oligodactyly, Hypoplasia of the radius, Proximal radial head dislocation, Prox... OMIM:602418
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Elbow flexion contracture, Azoospermia, Micropenis, Pancreatic hypoplasia, Rocker b... OMIM:602782
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Intrauterine growth retardation, Cystic hygroma, Cryptorchidism, Macroglossia, Increased nuchal t... ORPHA:453499
Branchiootorenal Syndrome 1
Branchial cyst, Facial palsy, Branchial fistula OMIM:113650
Grange Syndrome
Bicuspid aortic valve, Coronary artery stenosis, Renal artery stenosis, Carotid artery stenosis OMIM:602531
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Vascular... ORPHA:353281
Fetal Encasement Syndrome
Tetralogy of Fallot OMIM:613630
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Az... ORPHA:251066
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Ventricular septal defect, Double outlet right ventricle, Pulmonic sten... OMIM:301056
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Patent ductus arteriosus, Ao... ORPHA:91387
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Oligomeganephronia
Branchial cyst, Hypertension, Congenital diaphragmatic hernia ORPHA:2260
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Pulm... ORPHA:210122
Diabetic Embryopathy
Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular septal defect, Transpositio... ORPHA:1926
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Cryptorchidism, Mesomelic leg shortening, Hypoplastic iliac wing, Short toe, ... OMIM:609945
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Bicuspid... OMIM:619149
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Hepatospleno... ORPHA:35078
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, C... OMIM:601005
H Syndrome
Amenorrhea, Azoospermia, Micropenis, Diabetes mellitus, Hallux valgus, Camptodactyly, Delayed pub... ORPHA:168569
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot ORPHA:1381
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, V... OMIM:612561
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis OMIM:618223
Holoprosencephaly
Short neck, Arrhythmia, Cryptorchidism, Hypoplasia of penis, Congenital diaphragmatic hernia, Spi... ORPHA:2162
Aarskog-Scott Syndrome
Brachydactyly, Clinodactyly, Single transverse palmar crease, Short palm, Cryptorchidism, Elevate... OMIM:305400
Heart Defects, Congenital, And Other Congenital Anomalies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Double outlet left ventricle... OMIM:600001
Phocomelia, Schinzel Type
Bowing of the long bones, Aplasia of the uterus, Hand oligodactyly, Cryptorchidism, Aplasia/Hypop... ORPHA:2879
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Coarctation of abdominal aorta, Endocardial fibroelastosis OMIM:226100
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:1338
Monosomy 18Q
Pulmonary valve defects, Patent ductus arteriosus, Aortic aneurysm, Secundum atrial septal defect... ORPHA:1600
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Decr... OMIM:606367
Alagille Syndrome 2
Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Pulmonic stenosis OMIM:610205
Cornelia De Lange Syndrome
Abnormality of the ulna, Primary amenorrhea, Cryptorchidism, Clinodactyly of the 5th finger, Abno... ORPHA:199
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Tricuspid atresia, Atrial septal defect, Dextrocardia, Co... OMIM:264480
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Cryptorchidism, Sandal gap, Clinodactyly of the 5t... ORPHA:1106
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis OMIM:616201
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
X-Linked Intellectual Disability, Nascimento Type
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricl... ORPHA:163956
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Coarctat... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Coarctat... ORPHA:353277
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Patent ductus arteriosus, Cryptorchidism, Macroglossia, Branchial fistula, Camptodac... ORPHA:261337
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased circulating antibody level... ORPHA:293978
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Absent natural killer cells, Histiocytosis, Increa... ORPHA:2442
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Agammaglobulinemia, Decreased circulating antibody level, Neutropenia, Panhypogam... OMIM:601495
Distal 22Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Aortic regurgitation, Aortic aneurysm, Branchial fistula, Truncu... ORPHA:261330
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Decreased circulating total IgM, Chronic neutropen... OMIM:614700
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, Atrioventricular c... OMIM:265380
Storm Syndrome
Myxomatous mitral valve degeneration, Aortic valve stenosis, Mitral stenosis, Early progressive c... OMIM:185069
Fanconi Anemia
Abnormal thumb morphology, Abnormality of the ulna, Cryptorchidism, Clinodactyly of the 5th finge... ORPHA:84
Alg3-Cdg
Coarctation of the descending aortic arch, Cardiomyopathy ORPHA:79321
Poland Syndrome
Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly OMIM:173800
Cardiac Valvular Dysplasia, X-Linked
Mitral valve prolapse, Short chordae tendineae of the tricuspid valve, Bicuspid aortic valve, Sho... OMIM:314400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Cryptorchidism, Macroglossia, Aortic aneurysm, Increased nuchal translucency, Typ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Cryptorchidism, Macroglossia, Aortic aneurysm, Increased nuchal translucency, Typ... ORPHA:352665
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Anteriorly displaced genitalia, Aplasia/Hypoplasia involving the carpal bones, Ap... OMIM:276820
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle ORPHA:1667
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrioventricular canal defect, Hypertrophic cardio... ORPHA:251071
Distal Monosomy 15Q
Abnormal aortic arch morphology, Patent ductus arteriosus, Double outlet right ventricle with dou... ORPHA:1596
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Bicuspid aortic valve, Arterial tortuosity, Ascending tu... OMIM:614816
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Patent ductus arteriosus, Prominent superficial veins, Atrial se... ORPHA:363705
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly OMIM:165590
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Left ventricular hypertrophy, Ventricular septal defec... OMIM:618619
Schuurs-Hoeijmakers Syndrome
Abnormal cardiac septum morphology, Patent foramen ovale, Patent ductus arteriosus, Bicuspid aort... OMIM:615009
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Double outlet left ventricle... ORPHA:2255
20Q13.33 Microdeletion Syndrome
Hypoplastic aortic arch, Atrial septal defect, Abnormal cardiac ventricle morphology ORPHA:261311
Treacher-Collins Syndrome
Rectovaginal fistula, Small scrotum, Patent ductus arteriosus, Cryptorchidism, Hypoplasia of peni... ORPHA:861
Holoprosencephaly 13, X-Linked
Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic left h... OMIM:301043
Fryns Syndrome
Abnormal aortic morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal cardia... ORPHA:2059
Cantu Syndrome
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Bicuspid aortic valve, Cardio... OMIM:239850
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Charge Syndrome
Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Dysplastic... OMIM:214800
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Patent ductus arteriosus, Abnormal heart morphology, Bicuspid aortic valve,... ORPHA:500159
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Decreased circulating antibody level, B lymph... OMIM:616084
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aorta, Ven... OMIM:600460
Loeys-Dietz Syndrome 1
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Pulmonary artery aneurysm, ... OMIM:609192
Viss Syndrome
Carotid artery tortuosity, Double outlet right ventricle, Ventricular septal defect, Patent foram... OMIM:619472
Gaucher Disease, Type Iiic
Calcification of the aorta, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Distal Tetrasomy 15Q
Hypoplastic aortic arch, Abnormal heart morphology, Atrial septal defect, Patent ductus arteriosus ORPHA:314588
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Biliary, Renal, Neurologic, And Skeletal Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrioventricular canal defect, Unbalanced atriove... OMIM:619534
Frank-Ter Haar Syndrome
Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, Ventricular septal def... OMIM:249420
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia... ORPHA:508542
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Rubinstein-Taybi Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect, Patent ductus arteriosus OMIM:180849
Microphthalmia, Syndromic 2
Aortic valve stenosis, Patent ductus arteriosus, Atrial septal defect, Dextrocardia, Double outle... OMIM:300166
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Transposition of the great arteries, Atrioventricular canal defect OMIM:314390
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Aortic root aneurysm, ... OMIM:610168
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Bicuspid aortic valve, Vent... ORPHA:329224
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Clinodactyly, Toe syndactyly, Absent radius, Aplasia/Hypoplasia of the thumb, Triph... OMIM:154400
Contractural Arachnodactyly, Congenital
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Bicuspid aortic valve, Vent... OMIM:121050
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, T lymphocytopenia, Decreased ci... OMIM:300755
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis OMIM:114065
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Pulmonic stenosis, Transposition of the great arteries OMIM:617877
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Atrioventricular canal defect OMIM:600123
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... ORPHA:221139
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Varicose veins, Ventricular septal defect, Patent ductus arteriosus OMIM:153400
Digeorge Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, Truncus arteriosus, Int... OMIM:188400
Microgastria-Limb Reduction Defects Association
Absent thumb, Absent gallbladder, Hypoplasia of the ulna, Splenogonadal fusion, Hand oligodactyly... OMIM:156810
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Cryptorchidism, Oligodactyly, Ectrodactyly, Camptodactyly of fin... ORPHA:2273
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Patent foramen ovale, Coarctation of aorta, Hypoplastic left heart, Ventricu... OMIM:618748
Klippel-Trenaunay-Weber Syndrome
Hand polydactyly, Macrodactyly, Hand oligodactyly, Syndactyly OMIM:149000
Kleefstra Syndrome Due To 9Q34 Microdeletion
Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta, Aortic valve stenosis, Abnormal ca... ORPHA:96147
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Coronary sinus enlargement, Atrial septal defect, Pulmonary artery sling, V... OMIM:619268
Feingold Syndrome Type 1
Patent ductus arteriosus, Tricuspid atresia, Tricuspid stenosis, Multiple muscular ventricular se... ORPHA:391641
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve, Patent ductus arteriosus OMIM:243310
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent foramen ovale, Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Perip... OMIM:617506
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Acrocardiofacial Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Mitral stenosis, Ventricular sep... ORPHA:2008
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Limited mobility of proximal interphalangeal joint, Testicula... OMIM:222300
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Dysplastic tricuspid valve, ... OMIM:618280
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Tricuspid valve prolapse, Abnormal aortic morphology, Interrupted aortic ar... ORPHA:2396
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypothyroidism, Hypogonadotropic hypogonadism, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Sneddon Syndrome
Bicuspid aortic valve OMIM:182410
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Adams-Oliver Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Pulmonic stenosis, Hypoplastic left heart, Ventricular... OMIM:100300
Cornelia De Lange Syndrome 1
Hypoplastic labia majora, Single transverse palmar crease, Hand oligodactyly, 2-3 toe syndactyly,... OMIM:122470
Bloom Syndrome
Azoospermia, Oligospermia, Diabetes mellitus, Male infertility, Premature ovarian insufficiency ORPHA:125
Tukel Syndrome
Carpal synostosis, Carpal bone aplasia, Postaxial oligodactyly, Syndactyly OMIM:609428
X Small Rings
Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect, Aortic root aneurysm ORPHA:96201
Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ductus arteriosus OMIM:300712
Adams-Oliver Syndrome 6
Brachydactyly, Foot oligodactyly, Syndactyly OMIM:616589
De Barsy Syndrome
Patent ductus arteriosus, Prominent veins on trunk, Ventricular septal defect, Hypoplastic aortic... ORPHA:2962
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Peripheral pulmonary artery stenosis OMIM:300707
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Patent ductus arteriosus, Ascending aorta hypoplasia, Hypopla... ORPHA:141127
Nijmegen Breakage Syndrome
T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic anemia, B lymphocytopenia, Thromboc... OMIM:251260
Phace Syndrome
Tetralogy of Fallot, Aortic root aneurysm, Cerebral arteriovenous malformation, Abnormal cardiac ... ORPHA:42775
Kleefstra Syndrome
Tetralogy of Fallot, Coarctation of aorta, Ventricular septal defect, Pulmonary artery stenosis, ... ORPHA:261494
Branchiooculofacial Syndrome
Short neck, Intrauterine growth retardation, Cryptorchidism, Facial palsy, Branchial anomaly, Elb... OMIM:113620
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, B lymphocytopenia, Severe B lymphocytopenia ORPHA:83617
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Alg12-Cdg
Abnormal circulating IgA level, Partial absence of specific antibody response to Haemophilus infl... ORPHA:79324
Down Syndrome
Complete atrioventricular canal defect OMIM:190685
Craniofacial Microsomia
Tetralogy of Fallot, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Ventricul... OMIM:164210
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Meier-Gorlin Syndrome 7
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect OMIM:617063
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Thoracoabdominal Syndrome
Ectopia cordis, Patent ductus arteriosus, Transposition of the great arteries OMIM:313850
Carpenter Syndrome 1
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricul... OMIM:201000
Loeys-Dietz Syndrome 3
Ascending aortic dissection, Abdominal aortic aneurysm, Patent ductus arteriosus, Thoracic aortic... OMIM:613795
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:250989
Oculocerebrorenal Syndrome Of Lowe
Diabetes insipidus, Abnormality of epiphysis morphology, Cryptorchidism, Azoospermia, Abnormal ca... ORPHA:534
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Tricus... ORPHA:567
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Patent ductus arteriosus ORPHA:163979
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot OMIM:617925
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Muscular ventricular septal defect, Ascending aorta hypoplasia, Doub... OMIM:619503
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Bicuspid aortic valve ORPHA:401923
Syndromic Diarrhea
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Peripheral pulmonary artery ... ORPHA:84064
Focal Dermal Hypoplasia
Brachydactyly, Toe syndactyly, Foot polydactyly, Hand oligodactyly, Cryptorchidism, Short metacar... OMIM:305600
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Patent foramen ovale, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, Ven... ORPHA:457279
Koolen-De Vries Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Pulmonic stenosis, Bicuspid... OMIM:610443
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Baller-Gerold Syndrome
Bowing of the long bones, Abnormal carpal morphology, Hand oligodactyly, Aplasia/Hypoplasia of th... ORPHA:1225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Transposition of the great arter... OMIM:253800
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Delayed puberty, Azoospermia, Hallux valgus ORPHA:2072
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Short femur OMIM:601357
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent foramen ovale, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Coarctation of aorta... ORPHA:17
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Aortic root aneurysm, Atrial septal defect, Bicuspid aortic valve, Cardiome... OMIM:245600
Squalene Synthase Deficiency
Bicuspid aortic valve OMIM:618156