Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... |
OMIM:619585 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
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 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
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 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... |
OMIM:617912 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... |
OMIM:618164 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Ciliary Dyskinesia, Primary, 18 |
|
Immotile sperm, Ciliary dyskinesia, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:614874 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... |
OMIM:618845 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility, Immotile cilia |
OMIM:618801 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic sten... |
OMIM:179613 |
Primary Ciliary Dyskinesia |
|
Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, Double out... |
ORPHA:244 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... |
OMIM:618316 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... |
ORPHA:1330 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
Scimitar Syndrome |
|
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Anomalous pulmona... |
ORPHA:185 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect... |
OMIM:220210 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Ciliary dyskinesia, Reduced sperm motility, Situs inversus totalis, Absent inner ... |
OMIM:613807 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... |
ORPHA:3304 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Coarctation of aort... |
ORPHA:3426 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Male infertility, Ciliary dyskinesia |
OMIM:612444 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... |
ORPHA:477817 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... |
OMIM:109730 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... |
OMIM:605376 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus |
OMIM:614886 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Double outlet right ventricle, Hypogonadotropic hypogonadism, Pulmonary a... |
ORPHA:2326 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Biventricula... |
ORPHA:860 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonary artery atresia, Pulmonic sten... |
OMIM:301056 |
Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Aortic an... |
OMIM:614980 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Male infertility |
ORPHA:3000 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... |
OMIM:306955 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Double outlet right vent... |
ORPHA:371428 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Male infertility |
OMIM:618948 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Interrupted inferior vena cava with azygous continuation, Interrupted aortic arch, ... |
OMIM:616749 |
Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Right atrial isomerism... |
OMIM:270100 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Coarctation ... |
ORPHA:2209 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... |
OMIM:208530 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... |
ORPHA:2299 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Double outlet right ventricle, M... |
ORPHA:163956 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... |
ORPHA:1686 |
Giant Cell Arteritis |
|
Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Double outlet right ventricle with su... |
ORPHA:397 |
Ciliary Dyskinesia, Primary, 1 |
|
Ciliary dyskinesia, Situs inversus totalis, Absent outer dynein arms, Male infertility, Immotile ... |
OMIM:244400 |
Ring Chromosome Y Syndrome |
|
Streak ovary, Azoospermia, Female infertility, Abnormal spermatogenesis, Male infertility, Male h... |
ORPHA:261529 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:618223 |
Diabetic Embryopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Transposition of the great arteries, Tetra... |
ORPHA:1926 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Atrial septal defect |
ORPHA:1667 |
Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary arte... |
ORPHA:3384 |
Fetal Trimethadione Syndrome |
|
Transposition of the great arteries, Ventricular septal defect, Atrial septal defect, Tetralogy o... |
ORPHA:1913 |
Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... |
OMIM:608978 |
Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... |
OMIM:618780 |
Classic Galactosemia |
|
Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary amenorrhea, Premature ovarian ins... |
ORPHA:79239 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Abnormal aortic arch morphology, Ventricular septal defect, Abnormal descending aorta morphology,... |
ORPHA:99050 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Dextrocardia, Ventricular septal defect, Mixed total anomalous pulmonary venous connection, Mitra... |
ORPHA:99125 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Male infertility |
ORPHA:48 |
Aorta Coarctation |
|
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... |
ORPHA:1457 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Double outlet right ventricle, Atrial septal de... |
OMIM:249420 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Transposition of the great arteries, Spina bifida occulta, Perimembranous ventricular septal defe... |
OMIM:617877 |
Viss Syndrome |
|
Left aortic arch with retroesophageal right subclavian artery, Tortuous cerebral arteries, Aortic... |
OMIM:619472 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic l... |
OMIM:301043 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Male infertility |
OMIM:619607 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle, Abnormal heart morphology, Male infertility, Hypergonadotropic ... |
OMIM:227650 |
8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Atrioventricular canal defect, Patent du... |
ORPHA:251071 |
Microphthalmia, Syndromic 2 |
|
Dextrocardia, Ventricular septal defect, Mitral valve prolapse, Double outlet right ventricle, Pa... |
OMIM:300166 |
22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Transposition of the great arteries, Hypoplas... |
ORPHA:1727 |
Distal Monosomy 15Q |
|
Bicuspid aortic valve, Abnormal aortic arch morphology, Mitral atresia, Coarctation of aorta, Mit... |
ORPHA:1596 |
Meacham Syndrome |
|
Ventricular septal defect, Conotruncal defect, Situs inversus totalis, Coarctation of aorta, Pate... |
ORPHA:3097 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Transposition of the grea... |
OMIM:201000 |
Charge Syndrome |
|
Pulmonary artery atresia, Ventricular septal defect, Dysplastic tricuspid valve, Double outlet ri... |
OMIM:214800 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... |
ORPHA:1461 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Hypoplastic tricuspid val... |
OMIM:600001 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Conotruncal defect, Abnormal aortic arch morphology, Abnormality of the pu... |
ORPHA:2306 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Transposition of the great arteries |
OMIM:614779 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle, Abnormal heart morphology, Hypergonadotropic hypogonadism |
OMIM:600901 |
47,Xyy Syndrome |
|
Oligospermia, Male infertility, Azoospermia |
ORPHA:8 |
Doors Syndrome |
|
Double outlet right ventricle, Spina bifida occulta, Sirenomelia |
ORPHA:79500 |
Kawasaki Disease |
|
Myocarditis, Ascending tubular aorta aneurysm, Pericarditis, Double outlet right ventricle with s... |
ORPHA:2331 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ventricular septal defect, Persistent left superior vena cava, Double outlet right ventricle, Mit... |
OMIM:619503 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Fanconi Anemia, Complementation Group C |
|
Prolonged G2 phase of cell cycle, Ventricular septal defect, Hypergonadotropic hypogonadism |
OMIM:227645 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Coarctation of aorta, Tetralogy of Fallot, Abnormal cardiac septum morphology... |
ORPHA:96147 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Hypoplasia of right ventricle, Hypoplastic tr... |
ORPHA:2255 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Transposition of the great arteries |
OMIM:314390 |
Fanconi Anemia, Complementation Group D2 |
|
Prolonged G2 phase of cell cycle, Abnormal heart morphology, Patent ductus arteriosus, Hypergonad... |
OMIM:227646 |
Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Dextrocardia, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductu... |
OMIM:618280 |
Androgen Insensitivity Syndrome |
|
Male infertility |
ORPHA:754 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect |
ORPHA:40366 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism |
ORPHA:85450 |
Thakker-Donnai Syndrome |
|
Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:1780 |
Partial Androgen Insensitivity Syndrome |
|
Male sexual dysfunction, Male infertility, Primary amenorrhea, Azoospermia |
ORPHA:90797 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Primary amenorrhea |
ORPHA:99429 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male hypogonadism, Male infertility, Primary amenorrhea, Irregular menstruation, Decreased fertility |
ORPHA:90793 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Pulmonic stenosis, Transposition of the great arteries, Atrial septal def... |
OMIM:253800 |
Kleefstra Syndrome 1 |
|
Conotruncal defect |
OMIM:610253 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot, Peripheral p... |
OMIM:280000 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Ventricular septal defect, Stillbirth, Small placenta, Patent ductus arteri... |
OMIM:256520 |
Bloom Syndrome |
|
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia |
ORPHA:125 |
Aromatase Deficiency |
|
Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism |
ORPHA:91 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Streak ovary, Azoospermia, Chordee, Coarctation of aorta, Male infertility |
ORPHA:1772 |
Short Rib-Polydactyly Syndrome |
|
Abnormal heart morphology, Situs inversus totalis, Transposition of the great arteries |
ORPHA:1505 |
Thoracoabdominal Syndrome |
|
Transposition of the great arteries, Ectopia cordis, Patent ductus arteriosus |
OMIM:313850 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Azoospermia, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, ... |
ORPHA:251510 |
Chime Syndrome |
|
Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot, Pulmonary va... |
ORPHA:3474 |
Restrictive Dermopathy |
|
Short umbilical cord, Dextrocardia, Ascending tubular aorta aneurysm, Small placenta, Patent duct... |
ORPHA:1662 |
Noonan Syndrome 1 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Patent ductus arter... |
OMIM:163950 |
Vater/Vacterl Association |
|
Patent urachus, Ventricular septal defect, Patent ductus arteriosus, Transposition of the great a... |
OMIM:192350 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... |
OMIM:614976 |
Facial Dysmorphism With Multiple Malformations |
|
Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot |
OMIM:227255 |
Cystinosis, Nephropathic |
|
Male hypogonadism, Male infertility |
OMIM:219800 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Ventricular septal defect, Right ventricular hypertrophy, Total anomalous pulmonary venous return... |
OMIM:312870 |
Cystic Fibrosis |
|
Cor pulmonale, Male infertility |
OMIM:219700 |