Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduced ... |
OMIM:617091 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Immotile cilia, Immotile sperm, Absent respiratory ciliary axoneme radial spokes... |
OMIM:242670 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:215520 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Immotile cilia, Immotile sperm, Absent inner dynein arms, Respiratory i... |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
Ciliary Dyskinesia, Primary, 6 |
|
Abnormal respiratory motile cilium morphology, Absent/shortened outer dynein arms, Abnormal cilia... |
OMIM:610852 |
Ciliary Dyskinesia, Primary, 13 |
|
Immotile cilia, Absent inner dynein arms, Infertility, Absent outer dynein arms, Ciliary dyskinesia |
OMIM:613193 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
Ciliary Dyskinesia, Primary, 11 |
|
Immotile cilia, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... |
OMIM:612649 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
Ciliary Dyskinesia, Primary, 26 |
|
Immotile cilia, Infertility, Reduced sperm motility, Respiratory insufficiency due to defective c... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Abnormal ciliary moti... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Ciliary dyskinesia, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
Ciliary Dyskinesia, Primary, 32 |
|
Immotile cilia, Absent respiratory ciliary axoneme radial spokes, Infertility, Ciliary dyskinesia |
OMIM:616481 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
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 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Immotile cilia, Absent inner and outer dynein arms, Respiratory insufficiency du... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis, Immotile sperm, Infe... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Immotile cilia, Infertility, Reduced sperm motility, Respiratory insufficiency d... |
OMIM:615444 |
Ciliary Dyskinesia, Primary, 10 |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:612518 |
Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
Ciliary Dyskinesia, Primary, 7 |
|
Abnormal axonemal organization of respiratory motile cilia, Abnormal ciliary motility, Ciliary dy... |
OMIM:611884 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
Ciliary Dyskinesia, Primary, 40 |
|
Absent outer dynein arms, Infertility, Azoospermia, Reduced respiratory ciliary beating frequency |
OMIM:618300 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms, Abnormal ciliary motility, Ciliary dyskinesia |
OMIM:614017 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia |
OMIM:225050 |
Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility, Ciliary dyskinesia |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 28 |
|
Respiratory insufficiency due to defective ciliary clearance, Dynein arm defect of respiratory mo... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility, Ciliary dyskinesia |
OMIM:612444 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 44 |
|
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Immotile cilia, Absent inner and outer dynein arms, Infertility, Ciliary dyskinesia |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 38 |
|
Immotile cilia, Absent inner and outer dynein arms, Infertility |
OMIM:618063 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility |
ORPHA:98797 |
Ciliary Dyskinesia, Primary, 17 |
|
Dynein arm defect of respiratory motile cilia, Ciliary dyskinesia |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 24 |
|
Immotile cilia, Infertility, Ciliary dyskinesia |
OMIM:615481 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
Isochromosomy Yq |
|
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Reduced sperm moti... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 29 |
|
Infertility, Ciliary dyskinesia |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Absent outer dynei... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia |
OMIM:620032 |
Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology |
ORPHA:922 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Male infertility, Immotile cilia, Absent outer dynein arms, Ciliary dyskinesia |
OMIM:244400 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619949 |
Ciliary Dyskinesia, Primary, 25 |
|
Immotile cilia, Infertility, Ciliary dyskinesia |
OMIM:615482 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
Spermatogenic Failure 77 |
|
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility |
OMIM:620103 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:616950 |
Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Ciliary dyskinesia |
OMIM:615451 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
Ciliary Dyskinesia, Primary, 21 |
|
Ciliary dyskinesia |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Ciliary dyskinesia |
OMIM:615504 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Ciliary Dyskinesia, Primary, 3 |
|
Ciliary dyskinesia |
OMIM:608644 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia |
OMIM:616726 |
Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Decreased fertility, Absent outer d... |
OMIM:615067 |
Spermatogenic Failure 28 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size |
OMIM:618086 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Decreased testicular size, Abnormal sperm head morphology, Reduced sperm motility, A... |
ORPHA:320391 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia |
ORPHA:1882 |
Spermatogenic Failure 14 |
|
Azoospermia, Male infertility, Round spermatid arrest |
OMIM:615842 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Male hypogonadism, Delayed menarche, Azoospermia, Decreased testicular size, Decreased female lib... |
ORPHA:52901 |
Spermatogenic Failure 13 |
|
Azoospermia, Male infertility |
OMIM:615841 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Male infertility |
OMIM:301077 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... |
ORPHA:90797 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Nasal polyposis, Male infertility |
ORPHA:244 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias... |
ORPHA:8 |
Lead Poisoning |
|
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... |
ORPHA:330015 |
Classic Galactosemia |
|
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ova... |
ORPHA:79239 |
46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Abnormal vagina morphology, Streak ovary, Abnormal labia morphology, Abnorm... |
ORPHA:251510 |
Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilatera... |
ORPHA:90793 |
Mounier-Kühn Syndrome |
|
Tracheal stenosis |
ORPHA:3347 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Tracheal stenosis, Hypoplasia of penis |
OMIM:601427 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Tracheoesophageal fistula |
ORPHA:93941 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
Vacterl/Vater Association |
|
Bifid scrotum, Abnormal morphology of female internal genitalia, Tracheal stenosis, Cryptorchidis... |
ORPHA:887 |
Aromatase Deficiency |
|
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... |
ORPHA:91 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... |
ORPHA:85450 |
Jung Syndrome |
|
Tracheal stenosis |
ORPHA:2321 |
Pendred Syndrome |
|
Tracheal stenosis |
ORPHA:705 |
Hypomandibular Faciocranial Dysostosis |
|
Tracheal stenosis, Abnormal morphology of female internal genitalia |
ORPHA:1790 |
Tetraamelia-Multiple Malformations Syndrome |
|
Vaginal atresia, Tracheal stenosis, Cryptorchidism |
ORPHA:3301 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Tracheal stenosis |
OMIM:620183 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Tracheal stenosis, Hypospadias, Cryptorchidism |
OMIM:217980 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
Tracheobronchopathia Osteochondroplastica |
|
Tracheal stenosis |
ORPHA:3348 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal female external genitalia morphology, Tracheal stenosis, Precocious puberty |
ORPHA:2637 |
Carney Complex |
|
Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Abnorm... |
ORPHA:1359 |
Renal Cysts And Diabetes Syndrome |
|
Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bicornua... |
OMIM:137920 |
Hurler-Scheie Syndrome |
|
Tracheal stenosis |
OMIM:607015 |
Cystic Fibrosis |
|
Nasal polyposis, Male infertility |
OMIM:219700 |
Granulomatosis With Polyangiitis |
|
Tracheal stenosis, Nasal mucosa vasculitis |
OMIM:608710 |
Cystic Fibrosis |
|
Nasal polyposis, Absent vas deferens, Male infertility |
ORPHA:586 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tracheal stenosis |
OMIM:302960 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Tracheal stenosis |
ORPHA:93352 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Tracheal stenosis |
ORPHA:79345 |
Craniofacioskeletal Syndrome |
|
Tracheal stenosis, Hypospadias, Cryptorchidism |
OMIM:300712 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Micropenis, Tracheal stenosis, Hypospadias, Cryptorchidism |
ORPHA:163979 |
Smith-Lemli-Opitz Syndrome |
|
Clitoral hypertrophy, Tracheal stenosis, Cryptorchidism, Ambiguous genitalia, Hypoplasia of penis... |
ORPHA:818 |
Cartilage-Hair Hypoplasia |
|
Tracheal stenosis |
ORPHA:175 |
Geleophysic Dysplasia 3 |
|
Tracheal stenosis |
OMIM:617809 |
Larsen Syndrome |
|
Tracheal stenosis, Cryptorchidism |
OMIM:150250 |
Igg4-Related Thyroid Disease |
|
Tracheal stenosis |
ORPHA:64744 |
Frontometaphyseal Dysplasia 2 |
|
Tracheal stenosis, Cryptorchidism |
OMIM:617137 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal cortical gyration, Abnormal vagina morphology, Tracheal stenosis, Gray matt... |
OMIM:236680 |
Geleophysic Dysplasia 1 |
|
Laryngotracheal stenosis, Tracheal stenosis |
OMIM:231050 |
Fraser Syndrome |
|
Small scrotum, Abnormal vagina morphology, Tracheal stenosis, Female pseudohermaphroditism, Crypt... |
ORPHA:2052 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Webbed penis, Bifid scrotum, Polymicrogyria, Septate vagina, Tracheal stenosis, Periventricular h... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Webbed penis, Bifid scrotum, Polymicrogyria, Septate vagina, Tracheal stenosis, Periventricular h... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Webbed penis, Bifid scrotum, Polymicrogyria, Septate vagina, Tracheal stenosis, Periventricular h... |
ORPHA:261552 |