Registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
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
Male hypogonadism, Azoospermia, Syndactyly, 2-4 toe syndactyly OMIM:241000
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries, Ventricula... OMIM:231060
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
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
Male infertility, Azoospermia ORPHA:94064
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Aortic root aneurysm OMIM:618496
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Postaxial Tetramelic Oligodactyly
Oligodactyly, Abnormality of the metacarpal bones, Ectrodactyly, Abnormality of finger ORPHA:2730
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Right aortic arch, Situs inversus totalis OMIM:617577
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic valve, Transp... OMIM:612474
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Young Syndrome
Azoospermia OMIM:279000
Lambert Syndrome
Intrauterine growth retardation, Hypospadias, Branchial anomaly ORPHA:1296
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Patent ductus arteriosus,... ORPHA:1330
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Hydrocephalus-Obesity-Hypogonadism Syndrome
Cubitus valgus, Short 4th metacarpal, Azoospermia, Hypergonadotropic hypogonadism, Abnormality of... ORPHA:2183
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
49,Xyyyy Syndrome
Large carpal bones, Cubitus valgus, Bridged palmar crease, Male hypogonadism, Azoospermia, Radiou... ORPHA:99330
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... OMIM:208530
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Tibial Hemimelia
Cryptorchidism, Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus... ORPHA:93322
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Humeroradial synostosis, Arachnodactyly OMIM:614416
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Cryptorchidism, Tarsal synostosis, Aplasia/Hypoplasia of the radius, Abnormality of... ORPHA:1307
Maternal Uniparental Disomy Of Chromosome X
Cubitus valgus, Ambiguous genitalia, Rocker bottom foot, Azoospermia, Camptodactyly of finger, Go... ORPHA:261519
Robin Sequence-Oligodactyly Syndrome
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormali... ORPHA:3104
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Ring Chromosome 21 Syndrome
Infertility, Azoospermia, Amenorrhea, Narrow palm, Clinodactyly, Syndactyly, Small hand, Diabetes... ORPHA:1445
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Short phalanx of finger, Hypergonadotropic hypogonadism, Abnormal hand morphology, S... OMIM:300845
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De... OMIM:619281
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... ORPHA:93323
Johnson Neuroectodermal Syndrome
Right aortic arch, Patent ductus arteriosus, Ventricular septal defect OMIM:147770
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, C... ORPHA:432
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Cardiomyopathy, Dilated, 1S
Coarctation of aorta, Pulmonary artery hypoplasia, Bicuspid aortic valve, Dilated cardiomyopathy,... OMIM:613426
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Dextrocardia, Double outlet right ventricle, Mesocardia, Left atrial isom... OMIM:605376
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
48,Xyyy Syndrome
Dislocated radial head, Male hypogonadism, Azoospermia, Radioulnar synostosis, Primary gonadal in... ORPHA:99329
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Left superior vena cava draining to coronary sinus, D... ORPHA:185
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Ulnar Hemimelia
Radial club hand, Short forearm, Duplication of phalanx of 3rd finger, Aplasia of the 4th finger,... ORPHA:93320
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Bicuspid aortic... ORPHA:402075
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle,... ORPHA:3304
Tetramelic Monodactyly
Split hand, Hand monodactyly, Foot monodactyly, Split foot OMIM:187510
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:618316
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Absent forearm, Overlapping toe, Fibular hypoplasia, Clinodactyly, Talipes equinova... OMIM:201170
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve OMIM:300049
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Branchial cyst, Camptodactyly, Pulmonary artery stenosis, Knee flexion contractur... ORPHA:435938
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Branchial anomaly, Webbed neck, Pulmonic stenosis, Abnormality of the pulmonary a... ORPHA:1131
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Clinodactyly of the 3rd toe, Clinodactyly of the 5th finger, Abnormality of the han... ORPHA:521308
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Elbow dislocation,... ORPHA:3258
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Hypoplasia of the radius, Perineal fistula, Rectovaginal fistula, Ectrodactyly ORPHA:3016
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Finger clino... ORPHA:8
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:179613
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Ventricular septal defect... OMIM:192430
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Increased circulating IgE level, Lack of T cell function, Lymphopenia, B lymph... ORPHA:277
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Mesoaxial foot polydactyly, Decreased testicular size, Micr... OMIM:146510
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Atrial septal defect, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect,... ORPHA:477817
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
48,Xxyy Syndrome
Hip dysplasia, Cryptorchidism, Infertility, Azoospermia, Radioulnar synostosis, Elbow dislocation... ORPHA:10
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Ao... ORPHA:2306
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Delayed puberty, Decreased testicular size, Decrease... ORPHA:280679
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short foot, Talipes equinovarus, Brachy... ORPHA:52056
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Tetralogy Of Fallot
Tetralogy of Fallot ORPHA:3303
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid artery morphol... ORPHA:449400
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Congenital Aortic Valve Stenosis
Aortic valve atresia, Endocarditis, Endocardial fibroelastosis, Thoracic aortic aneurysm, Aortic ... ORPHA:3093
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
48,Xxxy Syndrome
Cryptorchidism, Infertility, Talipes equinovarus, Azoospermia, Radioulnar synostosis, Elbow dislo... ORPHA:96263
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Small hypothenar eminence, Delayed puberty, Triphalangeal thumb, Aplasia of the o... ORPHA:2232
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, B lymphocytopenia, Neutropenia, Agammaglobulinemia OMIM:601495
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Aortic valve stenosis OMIM:615377
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Double outlet right ventri... ORPHA:371428
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
49,Xxxxy Syndrome
Cryptorchidism, Infertility, Talipes equinovarus, Azoospermia, Radioulnar synostosis, Elbow dislo... ORPHA:96264
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology, Ventricular... ORPHA:1166
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Split foot OMIM:183800
Aortic Aneurysm, Familial Thoracic 10
Coronary artery atherosclerosis, Aortic root aneurysm, Bicuspid aortic valve, Abdominal aortic an... OMIM:617168
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Double outlet right ventricle, Hypoplastic ... ORPHA:2209
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Short metatarsal, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadi... ORPHA:1772
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level ORPHA:217390
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve OMIM:613355
Bartsocas-Papas Syndrome 1
Oligodactyly, Ambiguous genitalia, Talipes equinovarus, Short phalanx of finger, Hypoplastic scap... OMIM:263650
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Testicular atrophy, Syndactyly, Toe syndactyly OMIM:601163
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Abnormal at... ORPHA:244
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Hand polydactyly, Syndactyly, Type I... OMIM:210900
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Hypertelorism And Tetralogy Of Fallot
Patent foramen ovale, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, Paten... OMIM:239711
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, ... ORPHA:1727
Limb-Mammary Syndrome
Oligodactyly, Toe syndactyly, Aplasia of the ovary, Absent nipple, Bilateral breast hypoplasia, 3... ORPHA:69085
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Hyper... OMIM:615382
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Absent hand, Abnormality of finger, Elbow dislocation, Perineal fistula, Abnormalit... ORPHA:2538
Phaver Syndrome
Pulmonary artery atresia, Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta ORPHA:2876
Ring Chromosome 22 Syndrome
2-3 toe syndactyly, Azoospermia, Large hands ORPHA:1446
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect OMIM:614886
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal heart morphology, Pa... ORPHA:2847
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus, Radioulnar synostosis, Finger syndactyly, Aplasia/Hypoplasia of the ra... ORPHA:1788
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... ORPHA:1120
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi... OMIM:612946
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Coarctation of aor... ORPHA:284169
Bor Syndrome
Facial palsy, Branchial cyst ORPHA:107
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus... ORPHA:300298
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Camptodactyly of finger, Azoospermia, Flexion contracture of finger, Hypergon... OMIM:602782
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Absent forearm, Split hand, Hand monodactyly, Split foot, Patellar ap... OMIM:119100
Pallister-Hall Syndrome
Cryptorchidism, Broad thumb, Scrotal hypoplasia, 3-4 finger cutaneous syndactyly, Supernumerary m... ORPHA:672
Grange Syndrome
Carotid artery stenosis, Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve OMIM:602531
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Hand oligodactyly, Absent thumb, Proximal placement of thumb... OMIM:602418
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Transposition of the great arteries, Ventricular septa... ORPHA:1913
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Talipes equinova... ORPHA:251066
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect OMIM:300887
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Patent ductus arterio... ORPHA:353281
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Pulmonic stenosis, Double outlet right ventricle, Ventricular septal de... OMIM:301056
Mental Retardation, Autosomal Recessive 40
Bicuspid aortic valve OMIM:615599
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:210122
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:91387
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Branchiootorenal Syndrome 1
Branchial fistula, Facial palsy, Branchial cyst OMIM:113650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Cryptorchidism, Macroglossia, Branchial anomaly, Intrauterine growth retardation,... ORPHA:453499
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pulmonary artery, Tetra... ORPHA:1926
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Renal Tubular Dysgenesis
Tetralogy of Fallot ORPHA:3033
H Syndrome
Azoospermia, Amenorrhea, Camptodactyly, Delayed puberty, Decreased testicular size, Hypogonadism,... ORPHA:168569
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot ORPHA:1381
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Bilateral talipes equinovarus, Brachy... OMIM:608571
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent foramen ovale, Tetralog... OMIM:601005
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Aarskog-Scott Syndrome
Cryptorchidism, Short 5th finger, Elevated circulating luteinizing hormone level, Broad palm, Bil... OMIM:305400
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Cardiomyopathy OMIM:226100
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Pulmonic stenosis, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal defect OMIM:618223
Phocomelia, Schinzel Type
Radial bowing, Cryptorchidism, Aplasia of the uterus, Abnormality of tibia morphology, Hypoplasia... ORPHA:2879
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Bicuspid aortic valve, Patent ... OMIM:619149
Alagille Syndrome 2
Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Peripheral pulmonary artery stenosis OMIM:610205
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Split ... OMIM:609945
Oligomeganephronia
Congenital diaphragmatic hernia, Hypertension, Branchial cyst ORPHA:2260
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
Hemifacial Microsomia
Patent ductus arteriosus, Hypoplasia of facial musculature, Branchial anomaly, Coarctation of aorta OMIM:164210
Holoprosencephaly
Cryptorchidism, Arrhythmia, Branchial anomaly, Abnormal aortic morphology, Spinal dysraphism, Con... ORPHA:2162
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Bicuspid aortic valve OMIM:616201
Giant Cell Arteritis
Pericarditis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... ORPHA:397
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... ORPHA:2442
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Secundum atrial septal ... ORPHA:1600
Microphthalmia With Limb Anomalies
Cryptorchidism, Tarsal synostosis, Broad thumb, Elbow dislocation, Bilateral single transverse pa... ORPHA:1106
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Patent ductus arterio... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Patent ductus arterio... ORPHA:353277
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Abnorm... ORPHA:163956
Digeorge Syndrome
Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic arch, Ventr... OMIM:188400
Storm Syndrome
Mitral valve calcification, Aortic valve stenosis, Early progressive calcific cardiac valvular di... OMIM:185069
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Macroglossia, Camptodactyly of finger, Camptodactyly of toe, Branchial fistula, W... ORPHA:261337
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating antibody level, Abnormal lymphocyte morphology, A... ORPHA:293978
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Tarsal synostosis, Abnormal response ... ORPHA:95699
Fanconi Anemia
Cryptorchidism, Bicornuate uterus, Triphalangeal thumb, Abnormal preputium morphology, Abnormalit... ORPHA:84
Cornelia De Lange Syndrome
Cryptorchidism, Elbow dislocation, Bilateral single transverse palmar creases, Delayed puberty, H... ORPHA:199
Poland Syndrome
Unilateral oligodactyly, Syndactyly, Hypoplasia of deltoid muscle, Unilateral brachydactyly OMIM:173800
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology, Hypopla... ORPHA:251071
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Hypertrophi... OMIM:615415
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Aplastic pubic bones, Split hand, Scrotal hypoplasia, Phocomelia, Elbow flexion c... OMIM:276820
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Mitral valve prolapse, Bicuspid aortic valve, Aortic root... OMIM:614816
Distal Monosomy 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
Cardiac Valvular Dysplasia, X-Linked
Mitral valve prolapse, Short chordae tendineae of the mitral valve, Short chordae tendineae of th... OMIM:314400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Cryptorchidism, Type 1 muscle fiber atrophy, Macroglossia, Branchial anomaly, Aor... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Cryptorchidism, Type 1 muscle fiber atrophy, Macroglossia, Branchial anomaly, Aor... ORPHA:352665
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Truncus arteriosus, Aortic regurgitation, Branchial fistula, Intrauterin... ORPHA:261330
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... ORPHA:2255
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short metatarsal, Oligospermia, Hypoplastic pelvis, Breast hypoplasia, Cone-shaped epiphysis, Sho... OMIM:614813
Weiss-Kruszka Syndrome
Ventricular septal defect, Dextrotransposition of the great arteries, Left ventricular hypertroph... OMIM:618619
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic l... OMIM:301043
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Pancytope... ORPHA:99867
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Atrial septal defect ORPHA:261311
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect OMIM:616920
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Patent ductus arteriosus, Bicuspid aort... OMIM:615009
Cantu Syndrome
Pericardial effusion, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Cardiom... OMIM:239850
Fryns Syndrome
Abnormal aortic arch morphology, Tetralogy of Fallot, Abnormal cardiac septum morphology, Abnorma... ORPHA:2059
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Gaucher Disease, Type Iiic
Calcification of the aorta, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Aortic val... OMIM:231005
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Pulmonary artery stenosis, Patent ... OMIM:265380
Treacher-Collins Syndrome
Cryptorchidism, Branchial fistula, Scrotal hypoplasia, Patent ductus arteriosus, Rectovaginal fis... ORPHA:861
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic v... ORPHA:500159
Distal Tetrasomy 15Q
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology ORPHA:314588
Rubinstein-Taybi Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Vascular ring, Ventricular septal defect OMIM:180849
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Frank-Ter Haar Syndrome
Atrial septal defect, Mitral valve prolapse, Double outlet right ventricle, Ventricular septal de... OMIM:249420
Retinitis Pigmentosa 89
Bicuspid aortic valve OMIM:618955
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries OMIM:314390
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Arterial tortuosity, Atrial septal defect, Patent ductus arte... OMIM:609192
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis OMIM:114065
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Contractural Arachnodactyly, Congenital
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aortic root aneurysm, ... OMIM:121050
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries OMIM:617877
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased specific antibody response to vaccination, Decreased proportion of CD4-positive helper ... ORPHA:221139
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:153400
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrioventricular canal defect, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect OMIM:600123
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Carotid artery dilatation, Arterial tortuosity, Atrial septal... OMIM:610168
Acrofacial Dysostosis 1, Nager Type
Limited elbow extension, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Overlap... OMIM:154400
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve,... ORPHA:329224
Microphthalmia, Syndromic 2
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arc... OMIM:300166
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Double outlet right ventricle with subpulmonary ve... ORPHA:2331
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Coarctation of aorta, Patent foramen ovale, Te... OMIM:618748
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Oligodactyly, Cryptorchidism, Camptodactyly of finger, Abnormal pelvis bone morphology, Abnormali... ORPHA:2273
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Hypoplasia of the radius, Hypoplasia of the ulna, Bicornuate uterus, Hand oligoda... OMIM:156810
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fal... ORPHA:96147
Alzahrani-Kuwahara Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sling, Co... OMIM:619268
Feingold Syndrome Type 1
Tricuspid atresia, Interrupted aortic arch, Abnormal heart morphology, Patent ductus arteriosus, ... ORPHA:391641
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Patent ductus arteriosus, Bicuspid aortic valve OMIM:243310
Wolfram Syndrome 1
Hypothyroidism, Testicular atrophy, Diabetes insipidus, Limited mobility of proximal interphalang... OMIM:222300
Acrocardiofacial Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Mitral stenosis, Coarctation... ORPHA:2008
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Aortic valve stenosis, Tricuspid valve prola... ORPHA:2396
Klippel-Trenaunay-Weber Syndrome
Hand oligodactyly, Macrodactyly, Hand polydactyly, Syndactyly OMIM:149000
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect ORPHA:2328
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru... ORPHA:465508
X Small Rings
Bicuspid aortic valve, Ventricular septal defect, Mitral stenosis, Aortic root aneurysm ORPHA:96201
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Interrupted aortic arch, Ventricular septal defect OMIM:300712
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Postaxial oligodactyly, Carpal synostosis OMIM:609428
De Barsy Syndrome
Prominent veins on trunk, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic... ORPHA:2962
Cornelia De Lange Syndrome 1
Cryptorchidism, Limited elbow extension, Hypoplasia of the radius, Dislocated radial head, Hypopl... OMIM:122470
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Right ventricular ... ORPHA:1329
Bloom Syndrome
Azoospermia, Oligospermia, Diabetes mellitus, Male infertility, Premature ovarian insufficiency ORPHA:125
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Dysgammaglobulinemia, B lymphoc... OMIM:251260
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Anomalous origin of left pulmonary artery from ascending aort... ORPHA:141127
Adams-Oliver Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Hypopl... OMIM:100300
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Increased urinary cortisol level, Increased circulating cortiso... ORPHA:786
Kleefstra Syndrome
Ventricular septal defect, Coarctation of aorta, Pulmonary artery stenosis, Bicuspid aortic valve... ORPHA:261494
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Bicuspid aortic valve OMIM:300707
Branchiooculofacial Syndrome
Cryptorchidism, Low posterior hairline, Branchial anomaly, Facial palsy, Intrauterine growth reta... OMIM:113620
Down Syndrome
Complete atrioventricular canal defect OMIM:190685
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Phace Syndrome
Abnormal carotid artery morphology, Cerebral arteriovenous malformation, Abnormal heart morpholog... ORPHA:42775
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM ORPHA:83617
Adams-Oliver Syndrome 6
Foot oligodactyly, Brachydactyly, Syndactyly OMIM:616589
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:617063
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Thakker-Donnai Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect ORPHA:1780
Thoracoabdominal Syndrome
Ectopia cordis, Patent ductus arteriosus, Transposition of the great arteries OMIM:313850
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tet... OMIM:201000
22Q11.2 Deletion Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal ... ORPHA:567
Loeys-Dietz Syndrome 3
Arterial tortuosity, Ventricular hypertrophy, Aortic tortuosity, Aortic aneurysm, Mitral valve pr... OMIM:613795
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Genu valgum, Azoospermia, Abnormal calcium-phosphate regulating hormone level, Ab... ORPHA:534
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Bicuspid aortic valve ORPHA:401923
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Interrupted aortic arch, Ventricular septal defect ORPHA:163979
Pentalogy Of Cantrell
Tetralogy of Fallot, Atrial septal defect, Abnormal pericardium morphology, Ventricular septal de... ORPHA:1335
Syndromic Diarrhea
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Patent ductus arterio... ORPHA:84064
Koolen-De Vries Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aortic root aneurysm, ... OMIM:610443
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
1Q21.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Interrupted aortic arch ORPHA:250989
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Tetralogy of Fallot OMIM:617925
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Azoospermia, Hallux valgus, Cholelithiasis ORPHA:2072
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve... ORPHA:457279
Baller-Gerold Syndrome
Bowing of the long bones, Aplasia/Hypoplasia of the radius, Abnormality of the metacarpal bones, ... ORPHA:1225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... OMIM:253800
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Short femur OMIM:601357
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Complete atrioventricular canal defect ORPHA:476126
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Patent ductus arteriosus, Cardiomyopathy, Aortic root aneurysm OMIM:135500
Focal Dermal Hypoplasia
Cryptorchidism, Postaxial hand polydactyly, Short metatarsal, Short phalanx of finger, Congenital... OMIM:305600
Squalene Synthase Deficiency
Bicuspid aortic valve OMIM:618156
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Aortic root aneurysm, Cardiomegaly, Left ventricular hypertrophy, Bicuspid ... OMIM:245600
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, Hy... ORPHA:17
Charge Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:214800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Long penis, Stillbirth, Abnormality of the metacarpal bones, Brachydactyly, Radia... OMIM:268300
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Transposition of the great arteries, V... OMIM:280000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perimembranous ventricular s... ORPHA:508498
Mckusick-Kaufman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart... ORPHA:2473
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Bic... OMIM:610759
Lateral Meningocele Syndrome
Patent ductus arteriosus, Bicuspid aortic valve OMIM:130720
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Gastrointestinal hemorrhage, Branchial cyst, Patent ductus arteriosus, Hypopl... ORPHA:508488
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Mowat-Wilson Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery slin... OMIM:235730
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Kleefstra Syndrome 1
Conotruncal defect OMIM:610253
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Abnormality of the Leydig cells, Camptodactyly, Testicular atrophy, Slender toe, ... ORPHA:3063
Angioosteohypertrophic Syndrome
Abnormality of the menstrual cycle, Hand polydactyly, Finger syndactyly, Macrodactyly, Hemihypert... ORPHA:2346
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Atrial septal defect, Ventricular septal defect, Abnormal aortic arch morphology, Pulmonary arter... ORPHA:96334
Marfan Syndrome
Mitral valve prolapse, Bicuspid aortic valve, Tricuspid valve prolapse, Aortic root aneurysm, Mit... OMIM:154700
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve ORPHA:96169
Doors Syndrome
Double outlet right ventricle ORPHA:79500
Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism
Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Facial Dysmorphism With Multiple Malformations
Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect OMIM:227255
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Transposition of the great arteries, Ventricular se... ORPHA:3474
Charge Syndrome
Interrupted aortic arch, Abnormal aortic valve morphology, Patent ductus arteriosus, Abnormal car... ORPHA:138
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Aortic aneurysm, Bicuspid aortic valve ORPHA:536545
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve OMIM:617137
Hunter-Macdonald Syndrome
Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve OMIM:611962
Koolen-De Vries Syndrome Due To A Point Mutation
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Pulmonic stenosis, Bi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Pulmonic stenosis, Bi... ORPHA:363958
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal heart morphology, Pulmonary artery sling, Abnormal pulmonary valve morphology, Bicuspid ... ORPHA:261537
Short Rib-Polydactyly Syndrome
Situs inversus totalis, Transposition of the great arteries, Abnormal heart morphology ORPHA:1505
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal heart morphology, Ventricular septal defect, Pulmonary artery sling, Patent ductus arter... ORPHA:261552
Mowat-Wilson Syndrome
Abnormal heart morphology, Pulmonary artery sling, Patent ductus arteriosus, Abnormal cardiac sep... ORPHA:2152
Fontaine Progeroid Syndrome
Atrial septal defect, Abnormal heart morphology, Patent ductus arteriosus, Left ventricular hyper... OMIM:612289
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Endometrial carcinoma, Impot... ORPHA:273
Williams Syndrome
Abnormal carotid artery morphology, Atrial septal defect, Ventricular septal defect, Abnormal end... ORPHA:904
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Bicuspid aortic valve OMIM:613563
Tetrasomy 9P
Patent foramen ovale, Pericarditis, Abnormal mitral valve morphology, Dextrocardia, Juxtaductal c... ORPHA:3310
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Patent ductus arterio... ORPHA:438213
1P36 Deletion Syndrome
Abnormal heart valve morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology, Di... ORPHA:1606
Turner Syndrome Due To Structural X Chromosome Anomalies
Atrial septal defect, Arterial dissection, Bicuspid aortic valve, Hypoplastic left heart, Coarcta... ORPHA:99413
Turner Syndrome
Atrial septal defect, Arterial dissection, Bicuspid aortic valve, Hypoplastic left heart, Coarcta... ORPHA:881
Mosaic Monosomy X
Atrial septal defect, Arterial dissection, Bicuspid aortic valve, Hypoplastic left heart, Coarcta... ORPHA:99228
Monosomy X
Atrial septal defect, Arterial dissection, Bicuspid aortic valve, Hypoplastic left heart, Coarcta... ORPHA:99226
Restrictive Dermopathy