46,Xy Sex Reversal 8 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism |
OMIM:614279 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Gonadal dysgenesis |
OMIM:154230 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... |
ORPHA:752 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... |
OMIM:264300 |
46,Xy Sex Reversal 9 |
|
Fused labia minora, Ambiguous genitalia, Sex reversal, Gonadal dysgenesis |
OMIM:616067 |
46,Xy Sex Reversal 2 |
|
Sex reversal |
OMIM:300018 |
46,Xx Sex Reversal 3 |
|
Sex reversal |
OMIM:300833 |
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 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
Isochromosomy Yp |
|
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia |
ORPHA:98797 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Bifid scrotum, Micropenis, Ambiguous genitalia, Male pseudohermaphroditism |
OMIM:250790 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... |
OMIM:400044 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Gonadoblastoma, Dysgerminoma, Micropenis, Ambiguous genitalia, Decreased testicular... |
OMIM:616425 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Leydig Cell Hypoplasia |
|
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Secondary amenorrhea, Abnormal... |
ORPHA:755 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hypospadias, Bifid scrotum, Absent scrotum, Micropenis, Ambiguous genitalia, Male pseudohermaphro... |
OMIM:201810 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
46,Xy Sex Reversal 5 |
|
Sex reversal |
OMIM:613080 |
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 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 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea |
OMIM:202110 |
Frasier Syndrome |
|
Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis |
OMIM:136680 |
Denys-Drash Syndrome |
|
Male pseudohermaphroditism, Gonadal dysgenesis |
ORPHA:220 |
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 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Mental Retardation, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... |
OMIM:619585 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Currarino Syndrome |
|
Hypospadias, Male pseudohermaphroditism, Hypoplasia of penis, Bifid scrotum |
ORPHA:1552 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... |
ORPHA:347 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal |
ORPHA:85112 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... |
OMIM:612965 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicul... |
OMIM:614840 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... |
OMIM:146110 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadoblastoma, Chordee, Dysgerminoma, Clitoral hypertrophy |
OMIM:613762 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Mental Retardation, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,... |
OMIM:228300 |
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 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Decreased fertility in females, Dysmenorrhea, Elevated circulating follicle stimulat... |
ORPHA:90796 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Azoospermia, Penoscrotal hypospadias, Decreased fertility in males, Ambiguous genita... |
ORPHA:90791 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Male pseudohermaphroditism, Cervical spina bifida |
OMIM:600122 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, True hermaphroditism, Ambiguous genitalia, female, Ambiguous genitalia, m... |
OMIM:194080 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:168558 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Male pseudohermaphroditism, Gonadal dysgenesis, male, Cryptorchidism |
ORPHA:2075 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:289548 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Sex reversal |
OMIM:613743 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:616030 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Macroorchidism, Endometrial carcinoma, Female external genitalia in individu... |
ORPHA:90790 |
Mccune-Albright Syndrome |
|
Macroorchidism, Goiter, Abnormal testis morphology, Decreased fertility, Hyperplasia of the Leydi... |
ORPHA:562 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Small scrotum, Urogenital sinus anomaly, Ambiguous genitalia, male, Ambiguous geni... |
ORPHA:753 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
|
Male pseudohermaphroditism |
ORPHA:1422 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Macroorchidism, postpubertal, Adrenocorticotropic hormone... |
ORPHA:91348 |
Serkal Syndrome |
|
Hypospadias, Abnormal penis morphology, Sex reversal |
ORPHA:139466 |
Nivelon-Nivelon-Mabille Syndrome |
|
Male pseudohermaphroditism |
OMIM:600092 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,... |
ORPHA:8 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Hypospadias, Micropenis, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum |
ORPHA:2282 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Ambiguous genitalia, female, Female infertility, Male infertility, ... |
ORPHA:91 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormality of the male genitalia, Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditis... |
ORPHA:847 |
Polyembryoma |
|
Macroorchidism, Irregular menstruation, Isosexual precocious puberty |
ORPHA:180229 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Non-Functioning Pituitary Adenoma |
|
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... |
ORPHA:91349 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Campomelic Dysplasia |
|
Male pseudohermaphroditism, Ambiguous genitalia |
ORPHA:140 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Aplasia of the uterus, Male sexual dysfunction, Bifid scrotum, Fused labia majora, A... |
ORPHA:90797 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Urogenital sinus anomaly, M... |
ORPHA:251510 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Sex reversal, Micropenis, Ambiguous genitalia, Cryptorchidism, Microphallus |
OMIM:612651 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
Meckel Syndrome |
|
True hermaphroditism, Pancreatic cysts, Urethral atresia, Ambiguous genitalia, Cryptorchidism, Ma... |
ORPHA:564 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Adrenal gland agenesis, Ovotestis, Sex reversal |
OMIM:611812 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... |
ORPHA:99429 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Male hypogonadism |
OMIM:300055 |
46,Xy Ovotesticular Disorder Of Sex Development |
|
True hermaphroditism, Bifid scrotum, Gonadoblastoma, Chordee, Abnormality of the male genitalia, ... |
ORPHA:325345 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries, Umbilical hernia |
ORPHA:284180 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hypospadias, Abnormal penis morphology, Clitoral hypertrophy, Abnormal testis morphology, Ambiguo... |
ORPHA:2556 |
Meacham Syndrome |
|
Bicornuate uterus, Male pseudohermaphroditism, Septate vagina, Blind vagina |
OMIM:608978 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligospermia, Adrenal hyperplasia, Infertility, Oligomenorrhea, Ambiguous genitalia, Female pseud... |
ORPHA:786 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Irregular menstruation, Aplasia of the uterus, Precocious puberty in females, Bifid ... |
ORPHA:90793 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Urogenital sinus anomaly, Displacement of the urethral meatus, Abnor... |
ORPHA:2973 |
Classic Galactosemia |
|
Decreased fertility in females, Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary a... |
ORPHA:79239 |
Campomelic Dysplasia |
|
Sex reversal |
OMIM:114290 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
Pagod Syndrome |
|
Meningocele, Abnormal morphology of female internal genitalia, Abnormality of the uterus, Agonadi... |
ORPHA:991 |
Testicular Agenesis |
|
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... |
ORPHA:325124 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Macroorchidism |
OMIM:618874 |
Trisomy 20P |
|
Hypospadias, Macroorchidism, Spina bifida, Cryptorchidism, Umbilical hernia |
ORPHA:261318 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-stimulati... |
ORPHA:90674 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Male infertility |
OMIM:618948 |
Carney Complex |
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Oligospermia, Macroorchidism, Testicular adrenal rest tumor, Ovarian serous cystadenoma, Euthyroi... |
ORPHA:1359 |
Ciliary Dyskinesia, Primary, 34 |
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Male infertility, Immotile sperm |
OMIM:617091 |
X-Linked Intellectual Disability, Snyder Type |
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Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism |
ORPHA:3063 |
Ciliary Dyskinesia, Primary, 9 |
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Male infertility |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 18 |
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Male infertility, Immotile sperm |
OMIM:614874 |
Familial Glucocorticoid Deficiency |
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Testicular adrenal rest tumor, Azoospermia, Precocious puberty, Cryptorchidism, Leydig cell neopl... |
ORPHA:361 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Oligospermia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Male infertility |
ORPHA:85450 |
Fraser Syndrome |
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Hypospadias, Abnormal vagina morphology, Myelomeningocele, Urethral atresia, Small scrotum, Bicor... |
ORPHA:2052 |
Ciliary Dyskinesia, Primary, 14 |
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Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
Specc1L-Related Hypertelorism Syndrome |
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Female pseudohermaphroditism, Cryptorchidism, Shawl scrotum, Umbilical hernia |
ORPHA:1519 |
Fanconi Anemia, Complementation Group A |
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Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism |
OMIM:227650 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
C Syndrome |
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Female pseudohermaphroditism, Cryptorchidism |
ORPHA:1308 |
Proteus Syndrome |
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Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Sirenomelia, Long penis, Enlarged polycysti... |
ORPHA:744 |
Primary Ciliary Dyskinesia |
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Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Aspartylglucosaminuria |
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Macroorchidism, Umbilical hernia |
ORPHA:93 |
Aspartylglucosaminuria |
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Macroorchidism |
OMIM:208400 |
Bloom Syndrome |
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Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia |
ORPHA:125 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility |
OMIM:244400 |
Noonan Syndrome 1 |
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Hypospadias, Cryptorchidism, Male infertility, Hypogonadism |
OMIM:163950 |
Alström Syndrome |
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Oligospermia, Hyoplasia of the Leydig cells, Precocious puberty in females, Irregular menstruatio... |
ORPHA:64 |
Cystinosis, Nephropathic |
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Male hypogonadism, Male infertility |
OMIM:219800 |
Cystic Fibrosis |
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Male infertility |
OMIM:219700 |