Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
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 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 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
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 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
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 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... |
OMIM:261550 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
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 |
Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract |
OMIM:274205 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility, Cataract |
OMIM:300719 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism, Cataract |
OMIM:254000 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Male hypogona... |
OMIM:240950 |
Spastic Paraparesis And Deafness |
|
Hypogonadism, Cataract |
OMIM:312910 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... |
OMIM:614840 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia |
OMIM:618300 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia |
OMIM:615703 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
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 |
Spastic Paraparesis-Deafness Syndrome |
|
Hypogonadism, Cataract |
ORPHA:2815 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia |
OMIM:602390 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract |
OMIM:610156 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Cataract |
ORPHA:1875 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia |
ORPHA:2183 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia |
OMIM:300985 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... |
OMIM:300200 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... |
ORPHA:432 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia |
OMIM:616950 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Increased circulat... |
ORPHA:2410 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia |
ORPHA:2578 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Hypo... |
ORPHA:752 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Premature ovarian insufficiency |
ORPHA:2278 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Increased serum testosterone level, Macroorchidism, Azoospermia, Incre... |
ORPHA:8 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... |
OMIM:264300 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism, Hypoplasia of penis |
ORPHA:1381 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... |
ORPHA:280679 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Small scrotum, Abnormality of the endocrine system, Urogenital sinus anomaly, Ambi... |
ORPHA:753 |
48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Male hypogonadism, Azoospermia |
ORPHA:99329 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... |
ORPHA:90791 |
Maternal Uniparental Disomy Of Chromosome X |
|
Primary gonadal insufficiency, Ambiguous genitalia, Gonadal tissue inappropriate for external gen... |
ORPHA:261519 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... |
OMIM:235200 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism, Microcornea, Cataract |
ORPHA:2528 |
49,Xyyyy Syndrome |
|
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona... |
ORPHA:99330 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Cryptorchidism, External genital hypoplasia, Cataract |
ORPHA:363741 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:616030 |
Ring Chromosome 21 Syndrome |
|
Infertility, Diabetes insipidus, Amenorrhea, Azoospermia |
ORPHA:1445 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Cataract |
ORPHA:2489 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypergonadotrop... |
OMIM:300845 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hypogonadism, Cryptorchidism, Cataract |
OMIM:601794 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Azoospermia, Hypergonadotropic hypogonadism, Cryptorchidi... |
ORPHA:10 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia |
OMIM:601076 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Spontaneous abortion |
OMIM:136580 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Morm Syndrome |
|
Micropenis, Cataract |
ORPHA:75858 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testosterone level,... |
ORPHA:99429 |
Wagr Syndrome |
|
Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus, Ambiguous genitalia, Catarac... |
ORPHA:893 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Cataract, Hypergonadotropic ... |
ORPHA:3085 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Infertility, Aplasia/hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Abse... |
ORPHA:2232 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Keratoconus, Cataract, Hypop... |
ORPHA:791 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Ciliary Dyskinesia, Primary, 18 |
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Absent outer dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
Martsolf Syndrome 2 |
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Hypogonadotropic hypogonadism, Cataract, Developmental cataract |
OMIM:619420 |
Cataract 15, Multiple Types |
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Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Kallmann Syndrome With Spastic Paraplegia |
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Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Retinopathy, Pigmentary, And Mental Retardation |
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Hypogonadism, Cataract |
OMIM:268050 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Testicular atrophy |
OMIM:613987 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Aniridia, Microcornea, Cataract |
OMIM:106230 |
Familial Glucocorticoid Deficiency |
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Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal rest tumor, Co... |
ORPHA:361 |
Aniridia-Absent Patella Syndrome |
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Aniridia, Cryptorchidism, Cataract |
ORPHA:1069 |
Leber Congenital Amaurosis 7 |
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Keratoconus, Cataract |
OMIM:613829 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism,... |
ORPHA:300298 |
Myotonic Dystrophy 1 |
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Testicular atrophy, Cataract, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Cryptorchidism, Cataract |
OMIM:613730 |
Cataract 47 |
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Microcornea, Cataract |
OMIM:612018 |
Functioning Gonadotropic Adenoma |
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Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Ciliary Dyskinesia, Primary, 9 |
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Male infertility |
OMIM:612444 |
Laurence-Moon Syndrome |
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Type II diabetes mellitus, Iris coloboma, Displacement of the urethral meatus, Cataract, Cryptorc... |
ORPHA:2377 |
Coats Disease |
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Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
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Cataract |
OMIM:618660 |
8P11.2 Deletion Syndrome |
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Azoospermia, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Paten... |
ORPHA:251066 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Classic Galactosemia |
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Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Male infertil... |
ORPHA:79239 |
Ciliary Dyskinesia, Primary, 14 |
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Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... |
OMIM:613807 |
Bloom Syndrome |
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Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism, Azoospermia |
OMIM:210900 |
Anterior Segment Dysgenesis 7 |
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Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Cataract 10, Multiple Types |
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Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
48,Xxxy Syndrome |
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Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Cryptorchidism,... |
ORPHA:96263 |
Ectopia Lentis Et Pupillae |
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Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Amoebic Keratitis |
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Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Peters Anomaly |
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Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Cryptorchidism, Ambiguous genitalia, Cataract, Hypoplasia of penis |
ORPHA:2772 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
Autosomal Dominant Keratitis |
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Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
49,Xxxxy Syndrome |
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Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Cryptorchidism,... |
ORPHA:96264 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
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Hypogonadism, Cataract |
OMIM:302950 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Uterine leiomyosarcoma, Vaginal neoplasm, Cataract, Uterine leiomyoma |
ORPHA:523 |
Trichothiodystrophy 3, Photosensitive |
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Cataract, Decreased fertility |
OMIM:616395 |
Cataract 3, Multiple Types |
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Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Hereditary Bullous Dystrophy, Macular Type |
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External genital hypoplasia, Corneal opacity, Cataract, Cryptorchidism, Decreased testicular size |
ORPHA:1867 |
Ring Chromosome 22 Syndrome |
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Azoospermia |
ORPHA:1446 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
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Microcornea, Cataract |
OMIM:619082 |
Anterior Segment Dysgenesis 2 |
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Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
H Syndrome |
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Amenorrhea, Azoospermia, Hypogonadism, Micropenis, Diabetes mellitus, Decreased testicular size, ... |
ORPHA:168569 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe... |
ORPHA:91 |
Cataract 5, Multiple Types |
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Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Hypoparathyroidism, Familial Isolated, 1 |
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Decreased circulating parathyroid hormone level, Hypoparathyroidism, Cataract |
OMIM:146200 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... |
ORPHA:465508 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... |
ORPHA:91351 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Hypospadias, Sclerocornea, Cataract, Microcornea, Precocious puberty, Ectopia pupillae |
OMIM:615877 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... |
OMIM:157640 |
Microphthalmia With Brain And Digit Anomalies |
|
Sclerocornea, Abnormality of the hypothalamus-pituitary axis, Iris coloboma, Cataract, Cryptorchi... |
ORPHA:139471 |
Galactokinase Deficiency |
|
Nuclear cataract, Cataract, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hype... |
ORPHA:79237 |
Werner Syndrome |
|
Hypogonadism, Cataract, Diabetes mellitus |
OMIM:277700 |
Warburg Micro Syndrome 2 |
|
Hypoplastic labia majora, Developmental cataract, Micropenis, Cataract, Cryptorchidism, Microcornea |
OMIM:614225 |
Wolfram Syndrome 1 |
|
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism |
OMIM:222300 |
Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... |
ORPHA:3453 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Microphthalmia, Syndromic 5 |
|
Microcornea, Micropenis, Cataract, Ectopic posterior pituitary, Cryptorchidism |
OMIM:610125 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Azoospermia, Patent ductus arteriosus, Micropenis, Type I diabetes mellitu... |
OMIM:602782 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal hyperplasia, Infertility, Increase... |
ORPHA:786 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Hypoparathyroidism, Cholelithiasi... |
OMIM:240300 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... |
OMIM:305400 |
Bloom Syndrome |
|
Oligospermia, Azoospermia, Male infertility, Diabetes mellitus, Premature ovarian insufficiency |
ORPHA:125 |
Autosomal Dominant Cerebellar Ataxia |
|
Azoospermia |
ORPHA:99 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Fanconi Anemia |
|
Hypospadias, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Abnormal preputium morp... |
ORPHA:84 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation |
ORPHA:171844 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Male infertility |
ORPHA:85450 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
External genital hypoplasia, Iris coloboma, Hypogonadism, Cataract, Cryptorchidism, Hypoplasia of... |
ORPHA:2250 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Chordee, Sclerocornea, Iris coloboma, Clitoral hypertrophy, Micropenis, Cataract, Ov... |
OMIM:309801 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism |
OMIM:227650 |
Oculocerebrorenal Syndrome Of Lowe |
|
Diabetes insipidus, Azoospermia, Hyperparathyroidism, Abnormal calcium-phosphate regulating hormo... |
ORPHA:534 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypospadias, Hypoplastic labia majora, Hypogonadotropic hypogonadism, Micropenis, Primary amenorr... |
OMIM:603457 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... |
OMIM:612109 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cholelithiasis, Delayed puberty, Azoospermia |
ORPHA:2072 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Cataract |
OMIM:263100 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Type II diabetes mellitus, Primary adrenal insufficiency, Hyperthyroidism, Thymoma, Cataract, Hyp... |
OMIM:269200 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Posterior subcapsular cataract, Endometrial ... |
ORPHA:273 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism |
ORPHA:3063 |
Cystinosis, Nephropathic |
|
Primary hypothyroidism, Male hypogonadism, Male infertility, Diabetes mellitus, Corneal crystals,... |
OMIM:219800 |
Noonan Syndrome 1 |
|
Hypospadias, Patent ductus arteriosus, Hypogonadism, Male infertility, Cryptorchidism |
OMIM:163950 |
Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |