Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
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 |
Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
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 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
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 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
Isochromosomy Yq |
|
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... |
ORPHA:98798 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
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 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
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, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
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, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
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 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
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 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
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 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... |
OMIM:108420 |
Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
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 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... |
OMIM:618086 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
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 |
Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
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 |
Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... |
OMIM:612885 |
Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
Spermatogenic Failure 13 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
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, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... |
OMIM:301077 |
Androgen Insensitivity, Partial |
|
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... |
OMIM:312300 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... |
OMIM:614837 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia |
OMIM:615703 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... |
OMIM:614897 |
Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea |
OMIM:602390 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism |
ORPHA:2183 |
46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... |
OMIM:300200 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... |
OMIM:308700 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Absence of pubertal development, Non... |
ORPHA:432 |
46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... |
OMIM:278850 |
46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia, Patent ductus arteriosus, Absent outer dynein arms |
OMIM:618300 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... |
ORPHA:8 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... |
OMIM:400045 |
48,Xyyy Syndrome |
|
Male hypogonadism, Primary gonadal insufficiency, Azoospermia |
ORPHA:99329 |
Maternal Uniparental Disomy Of Chromosome X |
|
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... |
ORPHA:261519 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... |
ORPHA:280679 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
Hemochromatosis, Type 1 |
|
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... |
OMIM:235200 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
49,Xyyyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... |
ORPHA:99330 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility |
ORPHA:1445 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
48,Xxyy Syndrome |
|
Decreased testicular size, Azoospermia, Type II diabetes mellitus, Cryptorchidism, Infertility, H... |
ORPHA:10 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... |
OMIM:300845 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... |
ORPHA:2232 |
Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... |
ORPHA:300298 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
48,Xxxy Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... |
ORPHA:96263 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility |
OMIM:614874 |
49,Xxxxy Syndrome |
|
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... |
ORPHA:96264 |
8P11.2 Deletion Syndrome |
|
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Patent ductus arteriosu... |
ORPHA:251066 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Ciliary Dyskinesia, Primary, 9 |
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Absent outer dynein arms, Male infertility |
OMIM:612444 |
Myotonic Dystrophy 1 |
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Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Ring Chromosome 22 Syndrome |
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Azoospermia |
ORPHA:1446 |
Bone Marrow Failure Syndrome 5 |
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Testicular atrophy, Hypogonadism |
OMIM:618165 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
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Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Classic Galactosemia |
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Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... |
ORPHA:79239 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Testicular atrophy |
OMIM:613987 |
H Syndrome |
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Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Micropenis, Di... |
ORPHA:168569 |
Pituitary Dermoid And Epidermoid Cysts |
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Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... |
ORPHA:91351 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
Aromatase Deficiency |
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Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Type II diabetes m... |
ORPHA:91 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... |
ORPHA:465508 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Bloom Syndrome |
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Azoospermia, Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism |
OMIM:210900 |
Generalized Glucocorticoid Resistance Syndrome |
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Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
Wolfram Syndrome 1 |
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Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus |
OMIM:222300 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... |
OMIM:602782 |
Aarskog-Scott Syndrome |
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Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... |
OMIM:305400 |
Bloom Syndrome |
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Azoospermia, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, Male infertility |
ORPHA:125 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... |
OMIM:157640 |
Fanconi Anemia |
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Abnormality of the uterus, Hypogonadism, Azoospermia, Cryptorchidism, Absent testis, Patent ductu... |
ORPHA:84 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... |
ORPHA:85450 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Fanconi Anemia, Complementation Group A |
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Hypergonadotropic hypogonadism, Prolonged G2 phase of cell cycle, Cryptorchidism, Male infertility |
OMIM:227650 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... |
ORPHA:534 |
Primary Ciliary Dyskinesia |
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Abnormal sperm motility, Female infertility, Male infertility |
ORPHA:244 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Cholelithiasis, Delayed puberty, Azoospermia |
ORPHA:2072 |
X-Linked Intellectual Disability, Snyder Type |
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Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism |
ORPHA:3063 |
Steinert Myotonic Dystrophy |
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Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... |
ORPHA:273 |
Cystic Fibrosis |
|
Absent vas deferens, Male infertility |
ORPHA:586 |
Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |