Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
N Syndrome |
|
Abnormality of chromosome stability, Hypospadias, Cryptorchidism |
OMIM:310465 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
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 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism, Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, External genital hypoplasia, Cryptorchidism |
OMIM:613390 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... |
OMIM:614840 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Endometriosis, Dysmenorrhea |
OMIM:131200 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... |
ORPHA:755 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia |
ORPHA:397685 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... |
OMIM:619834 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... |
OMIM:146110 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:618841 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... |
OMIM:615723 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28, Macroorchidism |
ORPHA:908 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
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 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Ovarian neoplasm, Ovarian carcinoma |
OMIM:617883 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Chromosome breakage, Adrenal insufficiency |
OMIM:609981 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Mccune-Albright Syndrome |
|
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... |
ORPHA:562 |
Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Aplasia/Hypoplasia of the thymus, Type II diabetes mellitus,... |
ORPHA:100 |
Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... |
ORPHA:432 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... |
OMIM:194072 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... |
ORPHA:753 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... |
OMIM:615300 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... |
ORPHA:752 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
46,Xx Gonadal Dysgenesis |
|
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... |
ORPHA:243 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
Paternal Uniparental Disomy Of Chromosome X |
|
Micropenis, Infertility, Decreased testicular size |
ORPHA:261524 |
Frasier Syndrome |
|
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... |
ORPHA:347 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Macroorchidism |
OMIM:300238 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ... |
OMIM:264300 |
Fanconi Anemia, Complementation Group P |
|
Chromosomal breakage induced by crosslinking agents, Cryptorchidism |
OMIM:613951 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... |
ORPHA:3130 |
Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Male infertility, Cryptorchidism, Chro... |
OMIM:227650 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Azoospermia, Type II diabetes mellitus,... |
OMIM:210900 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... |
ORPHA:91349 |
Polyembryoma |
|
Irregular menstruation, Increased serum serotonin, Abnormality of the endocrine system, Abnormal ... |
ORPHA:180229 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... |
ORPHA:8 |
Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:600901 |
Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea |
OMIM:614858 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
Fanconi Anemia, Complementation Group T |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Androgen Insensitivity, Partial |
|
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... |
OMIM:312300 |
Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... |
OMIM:620103 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
Aromatase Deficiency |
|
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Oligomenorrhea |
OMIM:604931 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Ty... |
ORPHA:91 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Fanconi Anemia, Complementation Group C |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:227645 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... |
OMIM:616950 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Chromosomal breakage induced by crosslinki... |
OMIM:603467 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... |
OMIM:308700 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... |
ORPHA:280356 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... |
ORPHA:2232 |
Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus, Chromosomal breakage induced by crosslinking agents, Chromosom... |
OMIM:614083 |
Bone Marrow Failure Syndrome 3 |
|
Hyperechogenic pancreas, Chromosome breakage, Pancreatic steatosis, Cryptorchidism |
OMIM:617052 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Lig4 Syndrome |
|
Abnormality of chromosome stability, Type II diabetes mellitus, Cryptorchidism, Hypothyroidism, H... |
ORPHA:99812 |
Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased testicular s... |
ORPHA:95619 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Chromosomal breakage induc... |
OMIM:609053 |
Fanconi Anemia, Complementation Group B |
|
Hypogonadism, Abnormality of chromosome stability, Micropenis, Hypergonadotropic hypogonadism |
OMIM:300514 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... |
OMIM:617442 |
Fanconi Anemia, Complementation Group D2 |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Annular pancreas, Cryptorchidism, Chro... |
OMIM:227646 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... |
ORPHA:247768 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Rudiger Syndrome |
|
Micropenis, Bicornuate uterus, Ovarian cyst |
OMIM:268650 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... |
ORPHA:90796 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... |
ORPHA:3464 |
Meningioma |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... |
ORPHA:2495 |
Fanconi Anemia, Complementation Group R |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Hemochromatosis, Type 1 |
|
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... |
OMIM:235200 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci... |
ORPHA:90790 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
46,Xx Sex Reversal 2 |
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Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... |
OMIM:278850 |
Myotonic Dystrophy 1 |
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Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
Estrogen Resistance |
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Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... |
OMIM:615363 |
Bone Marrow Failure Syndrome 5 |
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Testicular atrophy, Hypogonadism |
OMIM:618165 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Macroorchidism |
ORPHA:324410 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
Carney Complex |
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Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Precocious puberty, Irregular menstruation, Clitoral hypertrophy, Long penis, Premature adrenarch... |
ORPHA:90795 |
Akt2-Related Familial Partial Lipodystrophy |
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Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:79085 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
ORPHA:572333 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
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Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
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Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Testicular atrophy |
OMIM:613987 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Macroorchidism, Hypospadias |
OMIM:618874 |
Fanconi Anemia, Complementation Group N |
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Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Fraser-Like Syndrome |
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Ovarian cyst |
OMIM:229230 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... |
ORPHA:90301 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... |
ORPHA:90674 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... |
ORPHA:465508 |
Congenital Factor Vii Deficiency |
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Menorrhagia, Ovarian cyst |
ORPHA:327 |
Hypoplasminogenemia |
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Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Cidec-Related Familial Partial Lipodystrophy |
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Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:435651 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Macroorchidism |
OMIM:309520 |
Familial Glucocorticoid Deficiency |
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Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
Testicular Agenesis |
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Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
Leopard Syndrome 1 |
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Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... |
OMIM:151100 |
Trisomy 20P |
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Macroorchidism, Hypospadias, Cryptorchidism |
ORPHA:261318 |
Aarskog-Scott Syndrome |
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Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... |
OMIM:305400 |
Wolfram Syndrome 1 |
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Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus |
OMIM:222300 |
Fanconi Anemia |
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Abnormality of the hypothalamus-pituitary axis, Abnormality of chromosome stability, Abnormality ... |
ORPHA:84 |
X-Linked Intellectual Disability, Snyder Type |
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Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism |
ORPHA:3063 |
Genitourinary And/Or Brain Malformation Syndrome |
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Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... |
OMIM:618820 |
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 |
Icf Syndrome |
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Abnormality of chromosome stability |
ORPHA:2268 |
Riddle Syndrome |
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Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Bardet-Biedl Syndrome 1 |
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Abnormality of the ovary, Decreased testicular size, Hypogonadism, Nephrogenic diabetes insipidus... |
OMIM:209900 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... |
ORPHA:95699 |
Generalized Glucocorticoid Resistance Syndrome |
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Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
Familial Adenomatous Polyposis 4 |
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Thyroid adenoma, Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Micropenis, Decreased testicular size, Hypoplasia of the ovary |
OMIM:619321 |
Bardet-Biedl Syndrome |
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Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... |
ORPHA:110 |
Non-Acquired Panhypopituitarism |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased respons... |
ORPHA:90695 |
Ovarian Hyperstimulation Syndrome |
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Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... |
ORPHA:64739 |
Lesch-Nyhan Syndrome |
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Testicular atrophy |
OMIM:300322 |
Alg9-Cdg |
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Hypoplastic nipples, Bicornuate uterus, Hypoplasia of the ovary |
ORPHA:79328 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Precocious puberty, Macroorchidism |
OMIM:619950 |
Cartilage-Hair Hypoplasia |
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Abnormality of chromosome stability |
ORPHA:175 |
Schinzel-Giedion Syndrome |
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Annular pancreas, Central hypothyroidism, Streak ovary, Micropenis, Hypospadias |
ORPHA:798 |
Proteus Syndrome |
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Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic o... |
ORPHA:744 |
Nijmegen Breakage Syndrome |
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Abnormality of chromosome stability |
ORPHA:647 |
Steinert Myotonic Dystrophy |
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Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas... |
ORPHA:273 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Hashim... |
ORPHA:99413 |
Turner Syndrome |
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Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Hashim... |
ORPHA:881 |
Mosaic Monosomy X |
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Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Hashim... |
ORPHA:99228 |
Monosomy X |
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Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Hashim... |
ORPHA:99226 |
Aspartylglucosaminuria |
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Macroorchidism |
ORPHA:93 |
Aspartylglucosaminuria |
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Macroorchidism |
OMIM:208400 |
Alström Syndrome |
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Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Elevated circulating ... |
ORPHA:64 |