Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Mitral Valve Prolapse 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:610840 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... |
OMIM:614980 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Mitral Valve Prolapse 1 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:157700 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... |
ORPHA:399805 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Optic Atrophy 8 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:616648 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Arrhythmia, Pulm... |
ORPHA:228410 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Infertility, Oligozoospermia |
OMIM:615703 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Mitral valve prolapse |
OMIM:173900 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Mitral valve prolapse |
ORPHA:2233 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Mitral valve prolapse |
OMIM:616166 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Mitral valve prolapse |
ORPHA:2183 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... |
OMIM:109730 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse |
OMIM:211960 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse |
OMIM:225320 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse |
OMIM:225310 |
Mass Syndrome |
|
Mitral valve prolapse |
OMIM:604308 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Cardiospondylocarpofacial Syndrome |
|
Mitral regurgitation, Mitral valve prolapse |
ORPHA:3238 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Camurati-Engelmann Disease, Type 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:606631 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, ... |
OMIM:612561 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Mitral valve prolapse |
ORPHA:230839 |
Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia |
ORPHA:2248 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Aortic valve stenosis, Joint hemor... |
OMIM:193400 |
Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse |
OMIM:300624 |
Loeffler Endocarditis |
|
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... |
ORPHA:75566 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ... |
OMIM:212093 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Mitral valve prolapse, Pulmonic stenosis, Situs inversus totalis |
OMIM:609008 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Stickler Syndrome Type 1 |
|
Mitral valve prolapse |
ORPHA:90653 |
Dental Anomalies And Short Stature |
|
Mitral valve prolapse |
OMIM:601216 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Central Core Disease |
|
Mitral valve prolapse |
ORPHA:597 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function |
OMIM:619492 |
Classic Multiminicore Myopathy |
|
Congestive heart failure, Mitral valve prolapse, Right ventricular hypertrophy, Right ventricular... |
ORPHA:324604 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse |
OMIM:615539 |
Fragile X Syndrome |
|
Macroorchidism, Mitral valve prolapse |
ORPHA:908 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... |
ORPHA:555877 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Cap Myopathy |
|
Reduced systolic function, Sinus tachycardia, Mitral valve prolapse |
ORPHA:171881 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral val... |
OMIM:177850 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Mitral regurgitation, Mitral valve prolapse |
ORPHA:2848 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Geleophysic Dysplasia 2 |
|
Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve stenosis, Pulmonary... |
OMIM:614185 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Mitral valve prolapse |
ORPHA:98 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Frank-Ter Haar Syndrome |
|
Mitral valve prolapse |
ORPHA:137834 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p... |
OMIM:612863 |
Sandhoff Disease, Infantile Form |
|
Mitral regurgitation, Mitral valve prolapse |
ORPHA:309155 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... |
ORPHA:8 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... |
ORPHA:500 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... |
OMIM:612650 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology |
ORPHA:1277 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Mitral valve prolapse |
OMIM:247410 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cardiomyopathy, Mitral regurgitation, Mitral valve prolapse |
OMIM:258450 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... |
ORPHA:230851 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Boudin-Mortier Syndrome |
|
Mitral valve prolapse |
OMIM:619543 |
Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:300200 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Mitral valve prolapse |
OMIM:606408 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A... |
ORPHA:860 |
Costello Syndrome |
|
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic... |
ORPHA:3071 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
Brittle Cornea Syndrome 1 |
|
Mitral valve prolapse |
OMIM:229200 |
Noonan Syndrome 13 |
|
Atrial septal defect, Cryptorchidism, Mitral regurgitation, Mitral valve prolapse |
OMIM:619087 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Mitral regurgi... |
OMIM:616564 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Myocardial infarction, Mitral valve prolapse |
OMIM:236200 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... |
OMIM:620294 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Dahlberg-Borer-Newcomer Syndrome |
|
Mitral valve prolapse |
ORPHA:1563 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... |
ORPHA:91348 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, At... |
OMIM:121050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic card... |
OMIM:619745 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Cohen Syndrome |
|
Mitral valve prolapse |
OMIM:216550 |
Congenital Contractural Arachnodactyly |
|
Mitral valve prolapse |
ORPHA:115 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension, Mitral valve prolapse |
ORPHA:449291 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Mitral valve prolapse |
ORPHA:2712 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology |
ORPHA:903 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, Tricuspid va... |
OMIM:609942 |
Fg Syndrome Type 1 |
|
Atrial septal defect, Cryptorchidism, Pulmonary arterial hypertension, Mitral valve prolapse |
ORPHA:93932 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... |
ORPHA:90797 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Mitral valve prolapse |
OMIM:618874 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Mitral valve prolapse |
OMIM:130000 |
Ciliary Dyskinesia, Primary, 22 |
|
Reduced sperm motility, Infertility, Absent inner and outer dynein arms |
OMIM:615444 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Right atrial enlargement, Pulmonary arterial hypertension, Tricuspid regurgitation, Mitral valve ... |
OMIM:620233 |
Lead Poisoning |
|
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... |
ORPHA:330015 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cryptorchidism, Mitral valve prolapse |
OMIM:618000 |
Stickler Syndrome, Type I |
|
Mitral valve prolapse |
OMIM:108300 |
Neonatal Marfan Syndrome |
|
Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Heart murmur, Mitral valve prolap... |
ORPHA:284979 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Mitral valve prolapse, Hematochezia, Telangiectasia, Mitral regurgitation |
OMIM:175050 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Mitral valve prolapse |
OMIM:614816 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Azoospermia, Pulmonic stenosis, F... |
OMIM:602782 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Mitral valve prolapse |
OMIM:616914 |
Cerebellofaciodental Syndrome |
|
Cryptorchidism, Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Scimitar Syndrome |
|
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges... |
ORPHA:185 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Cryptorchidism, Azoospermia, Mitral valve prolapse |
ORPHA:251066 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Brittle Cornea Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Congestive heart failure, Arterial rupture, Mitral valve prolapse |
ORPHA:1900 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Osteogenesis Imperfecta, Type I |
|
Mitral valve prolapse |
OMIM:166200 |
Leopard Syndrome 1 |
|
Bundle branch block, Cryptorchidism, Complete atrioventricular canal defect, Mitral valve prolaps... |
OMIM:151100 |
Cohen Syndrome |
|
Cryptorchidism, Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
Shprintzen-Goldberg Syndrome |
|
Cryptorchidism, Mitral regurgitation, Abnormal aortic valve morphology, Mitral valve prolapse |
ORPHA:2462 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Mitral valve prolapse |
ORPHA:730 |
Cerebellar-Facial-Dental Syndrome |
|
Cryptorchidism, Ventricular septal defect, Abnormal T-wave, Mitral valve prolapse |
ORPHA:444072 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea |
ORPHA:91351 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... |
ORPHA:85438 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Mitral valve prolapse |
OMIM:104350 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Cryptorchidism, Hypertension |
ORPHA:1192 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Hypertension, Mitral regurgit... |
OMIM:611962 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Palpitations, Atrial septal defect, Mitral sten... |
ORPHA:2847 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mitral regurgitation, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:607459 |
Spondyloocular Syndrome |
|
Atrial septal defect, Mitral valve prolapse, Unilateral cryptorchidism, Dysplastic aortic valve |
OMIM:605822 |
Frontometaphyseal Dysplasia 1 |
|
Cor pulmonale, Mitral valve prolapse |
OMIM:305620 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... |
ORPHA:786 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Mitral valve prolapse |
OMIM:182212 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Cryptorchidism, Mitral valve prolapse |
ORPHA:536532 |
Myotonic Dystrophy 2 |
|
Hypogonadism, Oligozoospermia |
OMIM:602668 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Mitral valve prolapse |
ORPHA:508533 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Mitral valve prolapse |
OMIM:259600 |
Marfan Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, M... |
OMIM:154700 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Endocarditis, Abnormal aor... |
ORPHA:3099 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Bilateral cryptorchidism, Mitral valve prolapse, R... |
OMIM:617402 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Wolff-Parkinson-White syndrome, Mitral valve prolapse |
ORPHA:369950 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral valve prolapse, Mitral regurgitation, Abn... |
ORPHA:2556 |
Helsmoortel-Van Der Aa Syndrome |
|
Cryptorchidism, Heart murmur, Mitral valve prolapse, Abnormal heart morphology, Mitral regurgitat... |
OMIM:615873 |
Melnick-Needles Syndrome |
|
Pulmonary arterial hypertension, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:309350 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Cryptorchidism, Mitral valve prolapse, Mitral regu... |
OMIM:601776 |
Neurooculorenal Syndrome |
|
Dextrocardia, Cryptorchidism, Mitral valve prolapse, Tetralogy of Fallot with pulmonary stenosis,... |
OMIM:620305 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Mitral valve prolapse |
ORPHA:536467 |
Gapo Syndrome |
|
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea |
ORPHA:2067 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:137605 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... |
ORPHA:363700 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Double outlet right ventricle, Mitral va... |
OMIM:300166 |
Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse |
OMIM:609192 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Arrhythmia, Pulmonic stenosis, Atrial septal de... |
OMIM:218040 |
Marfan Syndrome |
|
Congestive heart failure, Mitral valve calcification, Mitral valve prolapse |
ORPHA:558 |
Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:618371 |
Heterotaxy, Visceral, 1, X-Linked |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Co... |
OMIM:306955 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Ventricular septal defect, Mitral valve prolapse |
ORPHA:500095 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Mitral valve prolapse, Perim... |
OMIM:180849 |
Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
Atypical Werner Syndrome |
|
Telangiectasia of the skin, Congestive heart failure, Aortic valve calcification, Mitral valve pr... |
ORPHA:79474 |
Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Mitral stenosis, Mitral valve calcification, Cardiomegaly |
OMIM:231005 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Mitral regurgitation, Abnormal ... |
ORPHA:287 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Mitral valve prolapse, Cerebral hemorrhage, Abnormal endocardium morphology |
ORPHA:666 |
Leopard Syndrome 3 |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Abnormal aortic valve morphology |
OMIM:613707 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Tetralogy of Fallot, Abnormal tricus... |
ORPHA:7 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis |
OMIM:617660 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Mitral valve prolapse, Hyp... |
OMIM:194050 |
Meester-Loeys Syndrome |
|
Mitral valve prolapse |
OMIM:300989 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clitoral hypoplasia, Oligozoospermia |
OMIM:614813 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... |
ORPHA:95699 |
Bloom Syndrome |
|
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia |
ORPHA:125 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Double outlet right ventricle, Supravalvar pulmonary stenosis, Hypoplastic left h... |
OMIM:618164 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Arterial ruptur... |
OMIM:130050 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Mit... |
OMIM:613795 |
Stickler Syndrome |
|
Arrhythmia, Mitral valve prolapse |
ORPHA:828 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Cryptorchidism, Pulmonic stenosis |
ORPHA:1131 |
Loeys-Dietz Syndrome 2 |
|
Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse |
OMIM:610168 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Subvalvular aortic stenosis |
OMIM:619461 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Atrial situs ambiguous, Ventricular septal defect, Dextroca... |
ORPHA:99125 |
Viss Syndrome |
|
Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Mitral valve prolapse... |
OMIM:619472 |
Carney Complex |
|
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... |
ORPHA:1359 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... |
ORPHA:363618 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Cardiomyopathy, Pulmonic stenosis, At... |
OMIM:605275 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Abnormal cardiac septum morphology, Mitral atresia |
ORPHA:140952 |
Cardiac-Urogenital Syndrome |
|
Tachycardia, Cor triatrium sinister, Unilateral cryptorchidism, Ventricular septal defect, Corona... |
OMIM:618280 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal mitral valve morphology |
ORPHA:1876 |
Acrocardiofacial Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Atrial septal defect, Mitral steno... |
ORPHA:2008 |
Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morphology, Cryptorch... |
ORPHA:286 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ... |
ORPHA:56 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Abnormal myoca... |
ORPHA:77261 |
Coccidioidomycosis |
|
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia |
ORPHA:228123 |
Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Pulmonic stenosis |
OMIM:614609 |
Tetrasomy 9P |
|
Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pachygyria, Polymicrogyria |
ORPHA:3310 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:227650 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... |
OMIM:137920 |
Geleophysic Dysplasia 1 |
|
Congestive heart failure, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis |
OMIM:231050 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... |
ORPHA:576 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology |
ORPHA:1292 |
Coffin-Lowry Syndrome |
|
Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Abnormal aortic valve morp... |
ORPHA:192 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve |
ORPHA:96201 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Partial anomalous pulmo... |
OMIM:265380 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Cardiomyopathy, Mitral regurgitation, Pulmonary arterial hypertension, M... |
OMIM:253200 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Angin... |
ORPHA:740 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Cryptorchidism, Double outlet right ventricle, Pulmonary arterial hype... |
ORPHA:163956 |
Alkaptonuria |
|
Aortic valve calcification, Mitral valve calcification |
OMIM:203500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension, Mitral regurgitation, ... |
OMIM:220111 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Cryptorchidism, Dysplastic tricuspid valve, Ventricular septal ... |
ORPHA:1724 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Mitral stenosis |
OMIM:617260 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heart murmur, Cardiomyopath... |
ORPHA:217085 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... |
OMIM:143095 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heart murmur, Cardiomyopath... |
ORPHA:217093 |
Mucopolysaccharidosis Type 2 |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal heart morphology, ... |
ORPHA:580 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Atrioventricular block, Reduced left ventricular ejection fraction, Abnormal aortic... |
ORPHA:581 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Ventricular septal defect, Mitral atresia, Portal hypertension, Cryptorchidism, Muscular ventricu... |
OMIM:619503 |
Pulmonary Alveolar Microlithiasis |
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Increased pulmonary vascular resistance, Mitral valve calcification, Testicular microlithiasis, R... |
ORPHA:60025 |
Gaucher Disease |
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Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... |
ORPHA:355 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Abnormal mitral valve morphology |
ORPHA:1969 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Azoospe... |
ORPHA:2072 |
Hajdu-Cheney Syndrome |
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Ventricular septal defect, Aortic valve stenosis, Mitral stenosis |
ORPHA:955 |
Okamoto Syndrome |
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Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
Cystic Fibrosis |
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Male infertility |
OMIM:219700 |
Noonan Syndrome 1 |
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Male infertility, Cryptorchidism, Hypogonadism, Hypospadias |
OMIM:163950 |
Alström Syndrome |
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Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular fibrosis, Irregular men... |
ORPHA:64 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... |
OMIM:182250 |