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Gene: Prdm1 MGI:99655

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Syndactyly, 2-4 toe syndactyly, Azoospermia OMIM:241000
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... ORPHA:1646
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... OMIM:613854
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... OMIM:618780
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Right aortic arch, Ventricula... OMIM:231060
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre... OMIM:613751
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... OMIM:619177
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Left superior ven... OMIM:619702
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo... ORPHA:1209
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Aortic Valve Disease 3
Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascending aortic dissection, A... OMIM:618496
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... OMIM:616749
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... OMIM:618300
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Postaxial Tetramelic Oligodactyly
Ectrodactyly, Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyly ORPHA:2730
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru... ORPHA:1457
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... OMIM:614980
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left... ORPHA:2248
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia OMIM:617577
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Young Syndrome
Azoospermia OMIM:279000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... OMIM:618845
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Aortopu... ORPHA:99050
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Overrid... OMIM:601927
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... ORPHA:1330
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Lambert Syndrome
Hypospadias, Branchial anomaly, Intrauterine growth retardation ORPHA:1296
Aorto-Ventricular Tunnel
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn... ORPHA:3400
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... OMIM:618086
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Aortic Valve Disease 2
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Calcification of the aorta, Aorti... OMIM:614823
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Azoospermia, Hypergonadotropic hypogonadism, Cubitus valgus, Abnormality of... ORPHA:2183
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Truncus Arteriosus
Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted aortic arch... ORPHA:3384
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:618719
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection OMIM:613780
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Per... OMIM:617478
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn... ORPHA:860
Meacham Syndrome
Patent ductus arteriosus, Cardiac total anomalous pulmonary venous connection, Ventricular septal... OMIM:608978
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Tetralogy... OMIM:208530
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus OMIM:615703
Split-Hand/Foot Malformation 6
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand OMIM:225300
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
49,Xyyyy Syndrome
Primary gonadal insufficiency, Short 5th finger, Abnormality of the testis size, External genital... ORPHA:99330
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... OMIM:183600
Tibial Hemimelia
Short tibia, Polydactyly, Ambiguous genitalia, Coxa valga, Hip dislocation, Metatarsus adductus, ... ORPHA:93322
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta OMIM:217085
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... OMIM:228300
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Humeroradial synostosis, Oligodactyly OMIM:614416
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Abnormality of the wrist, Oligod... ORPHA:1307
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Scimitar Syndrome
Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep... ORPHA:185
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Camptodactyly of finger, ... ORPHA:261519
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... OMIM:612576
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short phalanx of finger, Abnormal hand morphology, Small hand, Decreased response to growth hormo... OMIM:300845
Isolated Split Hand-Split Foot Malformation
Split hand, Absent hand, Finger syndactyly, Oligodactyly ORPHA:2440
Ring Chromosome 21 Syndrome
Diabetes insipidus, Small hand, Infertility, Clinodactyly, Azoospermia, Syndactyly, Narrow palm, ... ORPHA:1445
You-Hoover-Fong Syndrome
Double aortic arch, Vascular ring, Coarctation of aorta OMIM:616954
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Familial Aortic Dissection
Patent ductus arteriosus, Aortic root aneurysm, Cardiomegaly, Coronary artery atherosclerosis, De... ORPHA:229
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Fibular Hemimelia
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... ORPHA:93323
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... ORPHA:3304
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Primary amenorrhea, Impotence, Secondary amenorrhea, Decreased testicular si... ORPHA:432
Johnson Neuroectodermal Syndrome
Patent ductus arteriosus, Right aortic arch, Ventricular septal defect OMIM:147770
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Ulnar Hemimelia
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... ORPHA:93320
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Abnormality of the pulmonary artery, Cryptorchidism, Pulmonic ste... ORPHA:1131
48,Xyyy Syndrome
Primary gonadal insufficiency, Azoospermia, Radioulnar synostosis, Male hypogonadism, Dislocated ... ORPHA:99329
Aortic Aneurysm, Familial Thoracic 6
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... OMIM:611788
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... OMIM:220210
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Knee flexion contracture, Camptodactyly, Hypospadias, Pulmonary artery stenosis, Ankle flexion co... ORPHA:435938
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctation of aort... ORPHA:3426
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Perineal fistula, Oligodactyly, Ectrodactyly, Rectovaginal fistula ORPHA:3016
Tetramelic Monodactyly
Split hand, Split foot, Foot monodactyly, Hand monodactyly OMIM:187510
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Triphalangeal thumb, Absent forearm, Clinodactyly, Oligodactyly, Overlapping toe, Si... OMIM:201170
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Radial deviation of the hand, Metatarsal synostosis, Oligodactyly, Promin... ORPHA:2756
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Abnormal left ventricular outflow tract morphology, ... ORPHA:402075
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium,... OMIM:601186
Cenani-Lenz Syndrome
Hypothyroidism, Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, S... ORPHA:3258
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... OMIM:176240
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Dilated cardiomyopathy, Pulmonary artery hypoplasia, Anomalous ori... ORPHA:2326
Cardiac Valvular Dysplasia 1
Patent foramen ovale, Left aortic arch with cervical origin of the right subclavian artery, Ventr... OMIM:212093
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac... ORPHA:52056
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Pulmonary artery atresia,... OMIM:192430
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal... OMIM:179613
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the upper limb, Clinodactyly of the 5th finger, Oligodactyly, Abnormality of the h... ORPHA:521308
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... OMIM:610338
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal... OMIM:614954
Absence Of The Pulmonary Artery
Patent ductus arteriosus, Patent foramen ovale, Cardiomegaly, Truncus arteriosus, Abnormal cardia... ORPHA:980
Robin Sequence-Oligodactyly Syndrome
Hand oligodactyly, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morph... ORPHA:3104
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ... ORPHA:8
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... OMIM:605376
Congenitally Corrected Transposition Of The Great Arteries
Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo... ORPHA:216694
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Pallister-Hall Syndrome
Precocious puberty, Short 4th metacarpal, Toe syndactyly, Decreased circulating cortisol level, H... OMIM:146510
Congenital Tracheomalacia
Patent ductus arteriosus, Cardiomegaly, Ventricular septal defect, Single ventricle, Atrial septa... ORPHA:95430
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Double outlet... OMIM:306955
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
48,Xxyy Syndrome
Decreased testicular size, Hip dysplasia, Infertility, Type II diabetes mellitus, Azoospermia, Hy... ORPHA:10
Fibromuscular Dysplasia, Arterial
Aortic dissection, Arterial fibromuscular dysplasia, Stroke OMIM:135580
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, B lymphocy... OMIM:618987
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Aortic Aneurysm, Familial Thoracic 12
Aortic root aneurysm, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ascending aortic d... OMIM:619825
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... OMIM:618316
Aortic Arch Interruption
Patent ductus arteriosus, Double outlet right ventricle, Abnormal ascending aorta morphology, Aor... ORPHA:2299
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Congenital Aortic Valve Stenosis
Endocarditis, Aortic valve atresia, Dysplastic aortic valve, Left ventricular hypertrophy, Thorac... ORPHA:3093
Igg4-Related Aortitis
Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav... ORPHA:449400
Heterotaxy, Visceral, 5, Autosomal
Patent ductus arteriosus, Double outlet right ventricle, Atrioventricular canal defect, Ascending... OMIM:270100
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Abnormal aortic arch morphol... ORPHA:2306
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... OMIM:619707
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Coarctation of aorta, Hy... OMIM:618164
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... OMIM:206920
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... OMIM:616652
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Mitral valve prolapse, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P... ORPHA:2232
Fixed Subaortic Stenosis
Patent ductus arteriosus, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Bacter... ORPHA:3092
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Oligodactyly, Absent radius, Forearm undergro... OMIM:251230
48,Xxxy Syndrome
Coxa valga, Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Azoo... ORPHA:96263
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement OMIM:615377
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,... ORPHA:1461
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... OMIM:246570
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
49,Xxxxy Syndrome
Coxa valga, Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Azoo... ORPHA:96264
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular... ORPHA:1166
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Split foot, Hand monodactyly OMIM:183800
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Primary Ciliary Dyskinesia
Double outlet right ventricle, Atrial situs ambiguous, Anomalous pulmonary venous return, Situs i... ORPHA:244
Maternal Phenylketonuria
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... ORPHA:2209
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... ORPHA:261183
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect OMIM:613355
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Short 4th metacarpal, Hallux valgus, Ambiguo... ORPHA:1772
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Bartsocas-Papas Syndrome 1
Short phalanx of finger, Hypoplastic iliac wing, Ambiguous genitalia, Absent thumb, Short metacar... OMIM:263650
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... OMIM:619343
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Bicuspid ... OMIM:620067
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Abnormal finger morphology, Abnormality of the humerus, Perineal fistula, Abno... ORPHA:2538
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Bicuspid aortic valve, Cor... OMIM:617168
Limb-Mammary Syndrome
Aplasia of the ovary, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th fi... ORPHA:69085
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Bicuspid aortic valve, Abnormal aortic v... ORPHA:1120
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Cardiomegaly, Ischemic... ORPHA:91387
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... OMIM:613426
Multisystemic Smooth Muscle Dysfunction Syndrome
Patent ductus arteriosus, Common carotid artery aneurysm, Aortic arch aneurysm, Vascular dilatati... OMIM:613834
Immunodeficiency 68
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess OMIM:612260
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Testicular atrophy, Clinodactyly of the 5th finger, Syndactyly OMIM:601163
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Secundum atrial septal defect, Transposition of the great arteries, Cerebra... OMIM:619910
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve, Stroke, Cerebral hemorrhage OMIM:300049
Meacham Syndrome
Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co... ORPHA:3097
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... OMIM:619281
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence o... ORPHA:2847
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Radioulnar synostosis, Abnormal pelvic girdle bone morphology, Abnormality of ... ORPHA:1788
Ring Chromosome 22 Syndrome
2-3 toe syndactyly, Large hands, Azoospermia ORPHA:1446
Pallister-Hall Syndrome
Ambiguous genitalia, Precocious puberty, Short 4th metacarpal, Gonadotropin deficiency, Toe synda... ORPHA:672
22Q11.2 Duplication Syndrome
Ventricular septal defect, Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, ... ORPHA:1727
Coronary Arterial Fistula
Patent ductus arteriosus, Patent foramen ovale, Vascular dilatation, Bacterial endocarditis, Coro... ORPHA:2041
Nephronophthisis 16
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve steno... OMIM:615382
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect OMIM:614886
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Short foot, Clinodactyly of the 5th finger, Oligodactyly OMIM:619758
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... ORPHA:284169
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ascending tubular aorta aneurysm, Branchial anomaly, Macroglossia, Cryptorchidism, Increased nuch... ORPHA:453499
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Cardiac total anomalous ... ORPHA:99125
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Testicular ad... ORPHA:361
Gaucher Disease, Type Ii
Double aortic arch OMIM:230900
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Neonatal death, Aplasia of the ulna OMIM:276822
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal de... OMIM:301056
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect, Atrial septa... ORPHA:1913
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Pancreatic hypoplasia, Decreased response to growth hormone stimulation ... OMIM:602782
Down Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Atrioventricular canal defect, Patent fo... OMIM:190685
Laubry-Pezzi Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... ORPHA:99094
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus... ORPHA:300298
Grange Syndrome
Carotid artery stenosis, Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis OMIM:602531
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot ORPHA:2184
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Absent forearm, Hand monodactyly, Absent tibia, Split foot, Short hallux, Split... OMIM:119100
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy OMIM:113650
Fetal Encasement Syndrome
Tetralogy of Fallot OMIM:613630
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Bicuspid aortic valve, Atrial... ORPHA:353281
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Abnormality of the pulmonary artery, Tetra... ORPHA:1926
Rubinstein-Taybi Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Vascular ring, Perimem... OMIM:180849
Oligomeganephronia
Branchial cyst, Congenital diaphragmatic hernia, Hypertension ORPHA:2260
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Hypoplasia of penis, Cryptorchidism, Hypogonadotropic hypogonadism, Ab... ORPHA:251066
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr... OMIM:619705
Monosomy 18Q
Patent ductus arteriosus, Absence of the pulmonary valve, Secundum atrial septal defect, Aortic a... ORPHA:1600
Sneddon Syndrome
Bicuspid aortic valve, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Congenital Alveolar Capillary Dysplasia
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Ventricular sep... ORPHA:210122
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Tetralog... OMIM:601005
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis OMIM:616201
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Hip ... OMIM:609945
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... ORPHA:1106
Aarskog-Scott Syndrome
Short 5th finger, Short foot, Hyperextensibility of the finger joints, Shawl scrotum, Bilateral c... OMIM:305400
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... OMIM:612561
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal placement of thumb, Proximal ... OMIM:602418
Lessel-Kreienkamp Syndrome
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Pulm... OMIM:619149
Holoprosencephaly
Abnormal aortic morphology, Spinal dysraphism, Encephalocele, Branchial anomaly, Hypoplasia of pe... ORPHA:2162
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot ORPHA:1381
Functioning Gonadotropic Adenoma
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... ORPHA:91348
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
H Syndrome
Hallux valgus, Hypogonadism, Decreased testicular size, Azoospermia, Camptodactyly, Diabetes mell... ORPHA:168569
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe... OMIM:600001
Alagille Syndrome 2
Tetralogy of Fallot, Atrial septal defect, Pulmonic stenosis, Peripheral pulmonary artery stenosis OMIM:610205
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Coarctation of abdominal aorta, Cardiomyopathy OMIM:226100
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Dextrocardia, Complete atr... OMIM:264480
Giant Cell Arteritis
Abdominal aortic aneurysm, Pericarditis, Aortic dissection, Double outlet right ventricle with su... ORPHA:397
Baller-Gerold Syndrome
Forearm undergrowth, Absent thumb, Radial deviation of the hand, Patellar hypoplasia, Limited elb... OMIM:218600
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Vascular ring, Bicuspi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Vascular ring, Bicuspi... ORPHA:353277
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
Cornelia De Lange Syndrome
Toe syndactyly, Hypoplastic labia majora, Hip dislocation, Elbow dislocation, Primary amenorrhea,... ORPHA:199
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Humerora... ORPHA:95699
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Truncus arteriosus, Aortic aneurysm, Aortic regurgitation, Branchial fis... ORPHA:261330
Phocomelia, Schinzel Type
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Radial bowing, Hypoplasia o... ORPHA:2879
X-Linked Intellectual Disability, Nascimento Type
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... ORPHA:163956
Distal 22Q11.2 Microduplication Syndrome
Patent ductus arteriosus, Camptodactyly of finger, Webbed neck, Camptodactyly of toe, Macroglossi... ORPHA:261337
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Pulmonary artery dilatation, Pulmonary artery stenosis, Misalignme... OMIM:265380
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Cardiac Valvular Dysplasia, X-Linked
Short chordae tendineae of the mitral valve, Bicuspid aortic valve, Mitral valve prolapse, Short ... OMIM:314400
Distal Monosomy 15Q
Patent ductus arteriosus, Mitral atresia, Double outlet right ventricle with doubly committed ven... ORPHA:1596
Craniofaciofrontodigital Syndrome
Patent ductus arteriosus, Anomalous branches of internal carotid artery, Ventricular septal defec... ORPHA:363705
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle OMIM:173800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Aortic aneurysm, Macroglossia, Type 1 muscle fiber atrophy, Cryptorchidism, In... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Aortic aneurysm, Macroglossia, Type 1 muscle fiber atrophy, Cryptorchidism, In... ORPHA:352665
Bloom Syndrome
Decreased fertility in females, Type II diabetes mellitus, Hand polydactyly, Azoospermia, Clinoda... OMIM:210900
Alg3-Cdg
Coarctation of the descending aortic arch, Cardiomyopathy ORPHA:79321
Fanconi Anemia
Abnormal testis morphology, Toe syndactyly, Hip dislocation, Abnormal preputium morphology, Bicor... ORPHA:84
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Abnormal car... ORPHA:251071
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... OMIM:276820
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Atrial septal defect, Dilation of... ORPHA:261311
Loeys-Dietz Syndrome 4
Aortic tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Bicuspid aortic valve,... OMIM:614816
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia OMIM:165590
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect OMIM:618223
Schuurs-Hoeijmakers Syndrome
Patent ductus arteriosus, Patent foramen ovale, Bicuspid aortic valve, Abnormal cardiac septum mo... OMIM:615009
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Interrupted aortic arc... ORPHA:2255
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Treacher-Collins Syndrome
Patent ductus arteriosus, Small scrotum, Encephalocele, Hypoplasia of penis, Cryptorchidism, Rect... ORPHA:861
Fryns Syndrome
Abnormal aortic morphology, Tetralogy of Fallot, Abnormal cardiac septum morphology, Abnormal aor... ORPHA:2059
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:500159
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect OMIM:619895
Charge Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Secundum atri... OMIM:214800
Distal Tetrasomy 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Atrial septal defect ORPHA:314588
Cantu Syndrome
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Pericardial effusion, Bicuspi... OMIM:239850
Holoprosencephaly 13, X-Linked
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... OMIM:301043
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Viss Syndrome
Aortic tortuosity, Ascending tubular aorta aneurysm, Carotid artery dilatation, Aortic root aneur... OMIM:619472
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta, Absent pulmonary arter... OMIM:600460
Frank-Ter Haar Syndrome
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Secundum atrial s... OMIM:249420
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Loeys-Dietz Syndrome 1
Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatation of the duct... OMIM:609192
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Patent foramen ovale, Unbalanced atriove... OMIM:619534
Gaucher Disease, Type Iiic
Mitral stenosis, Calcification of the aorta, Cardiomegaly, Aortic valve calcification, Mitral val... OMIM:231005
Kawasaki Disease
Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Pericarditis, Myocarditis, Dou... ORPHA:2331
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve,... OMIM:121050
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Microphthalmia, Syndromic 2
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Mitral valve ... OMIM:300166
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Bicuspid aortic valve, Ventricular septal defect OMIM:617751
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Anterior h... ORPHA:91351
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:329224
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve OMIM:300997
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Aortic arch aneurysm, ... OMIM:610168
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic valve calcification OMIM:114065
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, ... OMIM:617506
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Oligodactyly, Abnormal pelvis bone morphology, Abnormality of the hand, ... ORPHA:2273
Digeorge Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch,... OMIM:188400
Feingold Syndrome Type 1
Patent ductus arteriosus, Interrupted aortic arch, Abnormal heart morphology, Multiple muscular v... ORPHA:391641
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Abnormal cardiac septum morphology, Coarctation of aorta, Aortic valve stenos... ORPHA:96147
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Dextrocardia, Transposition of the great arteries, Persistent left... OMIM:314390
Alzahrani-Kuwahara Syndrome
Patent foramen ovale, Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect... OMIM:619268
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Transposition of the great arteries, Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:617877
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Klippel-Trenaunay-Weber Syndrome
Hand oligodactyly, Syndactyly, Hand polydactyly, Macrodactyly OMIM:149000
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect OMIM:617450
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Te... OMIM:618748
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Limited mobility of pr... OMIM:222300
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Encephalocraniocutaneous Lipomatosis
Abnormal aortic morphology, Interrupted aortic arch, Coarctation of aorta, Aortic valve stenosis,... ORPHA:2396
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Abnorma... ORPHA:465508
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Complete atrioventricular canal defect, Primum atrial sept... ORPHA:1329
De Barsy Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic aortic arch, Persistent left sup... ORPHA:2962
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Thro... OMIM:603554
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG2 level, Absent spec... OMIM:102700
Cornelia De Lange Syndrome 1
Short sternum, 2-3 toe syndactyly, Hypoplastic radial head, Hypoplasia of the radius, Elbow flexi... OMIM:122470
Tukel Syndrome
Syndactyly, Carpal bone aplasia, Postaxial oligodactyly, Carpal synostosis OMIM:609428
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Bicuspid aortic valve, Mitral valve prolapse, Right atrial enlargement ORPHA:555877
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect OMIM:618027
8Q24.3 Microdeletion Syndrome
Patent ductus arteriosus, Truncus arteriosus, Coarctation of aorta, Spina bifida occulta, Short n... ORPHA:508488
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Bicuspid aortic valve, Atrial septal defect OMIM:619721
Adams-Oliver Syndrome 6
Syndactyly, Foot oligodactyly, Brachydactyly OMIM:616589
Bloom Syndrome
Premature ovarian insufficiency, Azoospermia, Oligospermia, Diabetes mellitus, Male infertility ORPHA:125
X Small Rings
Aortic root aneurysm, Bicuspid aortic valve, Ventricular septal defect, Mitral stenosis ORPHA:96201
Adams-Oliver Syndrome 1
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, P... OMIM:100300
Craniofacioskeletal Syndrome
Patent ductus arteriosus, Interrupted aortic arch, Ventricular septal defect, Atrial septal defect OMIM:300712
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Acrofacial Dysostosis 1, Nager Type
Triphalangeal thumb, Short toe, Absent thumb, Aplasia/Hypoplasia of the thumb, Hallux valgus, Foo... OMIM:154400
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Ventric... ORPHA:141127
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Phace Syndrome
Aortic root aneurysm, Abnormal cerebral artery morphology, Abnormal cardiac septum morphology, Ab... ORPHA:42775
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve OMIM:619641
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Pulmonary artery stenosis... ORPHA:261494
Branchiooculofacial Syndrome
Branchial anomaly, Elbow flexion contracture, Hypospadias, Short neck, Cryptorchidism, Low poster... OMIM:113620
Carpenter Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, T... OMIM:201000
Thoracoabdominal Syndrome
Patent ductus arteriosus, Transposition of the great arteries, Ectopia cordis OMIM:313850
Craniofacial Microsomia
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta, Right aortic arch, Tet... OMIM:164210
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Lateral Meningocele Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Aortic aneurysm, Ventricular septal defect OMIM:130720
Thakker-Donnai Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect ORPHA:1780
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Interrupted aortic arch, Abnormal cardiac septum morphology ORPHA:250989
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Double outlet right ventricle, Mitral atresia, Ischemic stroke, Vent... OMIM:619503
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Dilation of Virchow-Robin spaces OMIM:619720
Loeys-Dietz Syndrome 3
Aortic tortuosity, Abdominal aortic aneurysm, Patent ductus arteriosus, Tortuous cerebral arterie... OMIM:613795
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Witteveen-Kolk Syndrome
Microphallus, Phimosis, Intracranial hemorrhage, Congenital diaphragmatic hernia, Unilateral cryp... OMIM:613406
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch, Intracranial hemorr... ORPHA:163979
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, Transposition of the great art... OMIM:253800
Oculocerebrorenal Syndrome Of Lowe
Diabetes insipidus, Genu valgum, Hyperaldosteronism, Abnormal calcium-phosphate regulating hormon... ORPHA:534
22Q11.2 Deletion Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Retinal arteriolar tortu... ORPHA:567
Koolen-De Vries Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve,... OMIM:610443
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Dilated cardiomyopathy ORPHA:401923
Focal Dermal Hypoplasia
Short phalanx of finger, Short 4th metacarpal, Toe syndactyly, Supernumerary nipple, Postaxial ha... OMIM:305600
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Abnormal metacarpal morphology, Hand... ORPHA:1225
Feingold Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch, Tricuspid stenosis,... OMIM:164280
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm, Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ve... OMIM:245600
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Patent foramen ovale, Interrupted aortic arch, Coarctation of aorta, Hy... ORPHA:17