| Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
| Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
| Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
| Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
| Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
| Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a... |
OMIM:619528 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... |
ORPHA:399805 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia |
ORPHA:98797 |
| Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
| Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
| Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
| Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
| Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
| Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
| Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
| Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
| Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... |
OMIM:619585 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... |
ORPHA:399808 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
| Spermatogenic Failure 18 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 20 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 19 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
| Spermatogenic Failure 35 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
| Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
| Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
| Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
| Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
| Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
| Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia |
OMIM:300985 |
| Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
| Spermatogenic Failure 15 |
|
Non-obstructive azoospermia |
OMIM:616950 |
| Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Azoospermia |
OMIM:618086 |
| Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Osteomesopyknosis |
|
Infertility, Increased bone mineral density |
OMIM:166450 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormality of male internal genitalia, Bilateral cryptorchidism, Male infertility, Abnormal circ... |
OMIM:261550 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Hypogonadism, Osteoporosis, Delayed puberty, Osteopenia |
OMIM:615270 |
| Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
| Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
| Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia |
OMIM:618300 |
| Familial Hyperprolactinemia |
|
Menorrhagia, Infertility, Oligomenorrhea, Hemorrhagic ovarian cyst, Amenorrhea, Osteoporosis, Ost... |
ORPHA:397685 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... |
OMIM:614837 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Azoospermia |
OMIM:615703 |
| Premature Ovarian Failure 10 |
|
Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ovarian insufficiency, Decrea... |
OMIM:612885 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
| Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Secondary growth hormone deficiency, Absence of secondary sex characteristics, Redu... |
ORPHA:2410 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Osteoporosis, Ambiguous genitalia, femal... |
ORPHA:91 |
| Hydatidiform Mole, Recurrent, 4 |
|
Recurrent spontaneous abortion, Female infertility |
OMIM:618432 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
| Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:194400 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
| Oocyte Maturation Defect 10 |
|
Female infertility, Spontaneous abortion |
OMIM:619176 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia |
ORPHA:2578 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia |
OMIM:602390 |
| Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
| 46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia |
ORPHA:2183 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
| Spermatogenic Failure 9 |
|
Globozoospermia |
OMIM:613958 |
| Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
| Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Decreased skull ossification, Omphalocele, Congenital diaphragmatic hernia |
OMIM:601163 |
| 46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Azoospermia, Clitoral hypertrophy, Bicornuate ut... |
OMIM:400045 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo... |
ORPHA:261519 |
| Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
| Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Aplasia of the uterus, Male sexual dysfunction, Bifid scrotum, Fused labia majora, A... |
ORPHA:90797 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia |
OMIM:601076 |
| 48,Xyyy Syndrome |
|
Male hypogonadism, Azoospermia |
ORPHA:99329 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Reduced bone mineral densit... |
ORPHA:90796 |
| Ring Chromosome 21 Syndrome |
|
Infertility, Amenorrhea, Azoospermia |
ORPHA:1445 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Osteoporosis, Secondary growth hormone deficiency, Absence of seco... |
ORPHA:2235 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Hypopl... |
ORPHA:432 |
| Classic Galactosemia |
|
Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Osteoporosis,... |
ORPHA:79239 |
| Adrenal Hypoplasia, Congenital |
|
Oligospermia, Azoospermia, Hypogonadotropic hypogonadism, Cryptorchidism, Precocious puberty |
OMIM:300200 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Osteoporosis, Diabete... |
OMIM:235200 |
| 47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Varicocele, Micropenis, Male infertility,... |
ORPHA:8 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Azoospermia |
ORPHA:280679 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278760 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Osteoporosis, Weight ... |
ORPHA:465508 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Azoospermia |
OMIM:300845 |
| 48,Xxyy Syndrome |
|
Infertility, Azoospermia, Hypergonadotropic hypogonadism, Cryptorchidism, Hypoplasia of penis, De... |
ORPHA:10 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| 49,Xyyyy Syndrome |
|
Azoospermia, External genital hypoplasia, Male hypogonadism, Decreased testicular size, Abnormali... |
ORPHA:99330 |
| Prolactinoma |
|
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... |
ORPHA:2965 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Female infertility, Premature ovarian insufficiency |
OMIM:619518 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decre... |
OMIM:308700 |
| Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testosterone level,... |
ORPHA:99429 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Small for gestational age, Abnormal reproductive system morph... |
ORPHA:1916 |
| Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... |
ORPHA:91349 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Azoospermia, Penoscrotal hypospadias, Ambiguous genitalia, female, Ambiguous genital... |
ORPHA:90791 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| De Sanctis-Cacchione Syndrome |
|
Defective DNA repair after ultraviolet radiation damage, Gonadal hypoplasia |
OMIM:278800 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... |
OMIM:110100 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Ring Chromosome 22 Syndrome |
|
Azoospermia |
ORPHA:1446 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
| Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Male infertility, Deficient excision of UV-induced pyrimidine dimers in DNA, Hype... |
OMIM:227650 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Azoospermia |
ORPHA:300298 |
| Bloom Syndrome |
|
Decreased fertility in females, Cryptorchidism, Azoospermia |
OMIM:210900 |
| Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Hyperextensibility o... |
OMIM:305400 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
| 48,Xxxy Syndrome |
|
Infertility, Azoospermia, Small scrotum, Hypogonadism, Cryptorchidism, Hypoplasia of penis, Decre... |
ORPHA:96263 |
| 8P11.2 Deletion Syndrome |
|
Azoospermia, Hypogonadotropic hypogonadism, Hypogonadism, Cryptorchidism, Hypoplasia of penis |
ORPHA:251066 |
| Familial Glucocorticoid Deficiency |
|
Testicular adrenal rest tumor, Azoospermia, Precocious puberty, Cryptorchidism, Leydig cell neopl... |
ORPHA:361 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
| Fanconi Anemia, Complementation Group E |
|
Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypo... |
OMIM:600901 |
| 49,Xxxxy Syndrome |
|
Infertility, Azoospermia, Small scrotum, Hypogonadism, Cryptorchidism, Hypoplasia of penis, Decre... |
ORPHA:96264 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Elevated circulating follicle stimu... |
ORPHA:572333 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Aplasia of the ovary, Agonadism, Non... |
ORPHA:2232 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
| H Syndrome |
|
Amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size |
ORPHA:168569 |
| Fanconi Anemia, Complementation Group C |
|
Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypo... |
OMIM:227645 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
| Fanconi Anemia, Complementation Group D2 |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Patent ductus arteriosus, Micropenis, ... |
OMIM:227646 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
| Autosomal Dominant Cerebellar Ataxia |
|
Azoospermia |
ORPHA:99 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... |
OMIM:157640 |
| Trichothiodystrophy |
|
Cryptorchidism, Gonadal dysgenesis, Defective DNA repair after ultraviolet radiation damage |
ORPHA:33364 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Abnormality of the ovary, Secondary amenorrhea, Failure to thrive in infancy, Type II diabetes me... |
ORPHA:99413 |
| Turner Syndrome |
|
Abnormality of the ovary, Secondary amenorrhea, Failure to thrive in infancy, Type II diabetes me... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Abnormality of the ovary, Secondary amenorrhea, Failure to thrive in infancy, Type II diabetes me... |
ORPHA:99228 |
| Monosomy X |
|
Abnormality of the ovary, Secondary amenorrhea, Failure to thrive in infancy, Type II diabetes me... |
ORPHA:99226 |
| Wolfram Syndrome 1 |
|
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism |
OMIM:222300 |
| Bloom Syndrome |
|
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia |
ORPHA:125 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Micropenis, Hypergonadotropic hypogonadism, Azoospermia |
OMIM:602782 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Weight loss, Hypogonadism, Abnormal testis morphology, Primary testicular failure, ... |
ORPHA:85450 |
| Fanconi Anemia |
|
Hypospadias, Azoospermia, Abnormal preputium morphology, Absent testis, Abnormality of the uterus... |
ORPHA:84 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Osteoporosis, Cryptorchidism, C... |
ORPHA:3063 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Podagra |
OMIM:300322 |
| Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Rickets, Primary hypothyroidism, Male hypogonadism, Male infertilit... |
OMIM:219800 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Cryptorchidism, Azoospermia |
ORPHA:534 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Azoospermia |
ORPHA:2072 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
| Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... |
ORPHA:273 |
| Noonan Syndrome 1 |
|
Hypospadias, Failure to thrive in infancy, Synovitis, Hypogonadism, Male infertility, Cryptorchidism |
OMIM:163950 |
| Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... |
OMIM:615723 |
| Cystic Fibrosis |
|
Failure to thrive, Male infertility |
OMIM:219700 |
