Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Tall stature |
ORPHA:3000 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Tall stature, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated... |
ORPHA:99429 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... |
ORPHA:90791 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... |
ORPHA:753 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... |
OMIM:618187 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... |
OMIM:264600 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... |
OMIM:300068 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Megalencephaly |
|
Macroorchidism, Truncal obesity, Long penis |
ORPHA:2477 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Gonadoblastoma |
|
Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s... |
ORPHA:206484 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
Premature Ovarian Failure 14 |
|
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis |
ORPHA:85274 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Clitoral hypertrophy, Isosexual precoci... |
ORPHA:90795 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... |
OMIM:615842 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
46,Xx Sex Reversal 1 |
|
Tall stature, True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:400045 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity |
OMIM:309585 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... |
ORPHA:314478 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... |
ORPHA:261534 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... |
ORPHA:3044 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... |
OMIM:202010 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... |
OMIM:614962 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... |
OMIM:614841 |
46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level |
OMIM:618901 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... |
OMIM:240950 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... |
OMIM:618841 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... |
ORPHA:247768 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... |
ORPHA:289548 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Clark-Baraitser syndrome |
|
Macroorchidism, Obesity, Tall stature |
OMIM:300602 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity |
ORPHA:3055 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... |
ORPHA:96181 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... |
OMIM:615542 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Obesity |
ORPHA:3077 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon... |
OMIM:308700 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... |
ORPHA:2234 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility |
OMIM:261550 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size |
ORPHA:261483 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
Bardet-Biedl Syndrome 5 |
|
Micropenis, Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615983 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... |
ORPHA:456328 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Small for gestational age, Abnormality of the endocrine system, Cryptorchidism, Ve... |
ORPHA:95706 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... |
OMIM:610628 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... |
ORPHA:99330 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Disproportionate tall stature |
ORPHA:776 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Truncal obesity, Polycystic ovaries |
ORPHA:284180 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Cryptorchidism, Abnormality ... |
ORPHA:397590 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615982 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... |
ORPHA:432 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Male hypogonadism, Obesity |
OMIM:300055 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Mic... |
ORPHA:85282 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Shawl scrotum |
OMIM:615942 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Micropenis, Decreased testicular size, Shawl scrotum |
OMIM:615433 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Central Precocious Puberty In Male |
|
Abnormality of the testis size, Pituitary microadenoma, Overgrowth, Hypothalamic hamartoma, Abnor... |
ORPHA:649929 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia |
ORPHA:93328 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
X-Linked Intellectual Disability, Siderius Type |
|
Cryptorchidism, Decreased testicular size |
ORPHA:85287 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Perrault Syndrome 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233400 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Hypogonadism, Decreased fertility, Obesity |
ORPHA:2233 |
Stt3A-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum, Failure to thrive |
ORPHA:370921 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Glandular hyposp... |
OMIM:300219 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic ... |
OMIM:601820 |
Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
Paternal Uniparental Disomy Of Chromosome X |
|
Infertility, Micropenis, Decreased testicular size |
ORPHA:261524 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity |
ORPHA:363741 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Shawl scrotum |
ORPHA:2256 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity, Oligozoospermia, Azoospermia, Infertility, Type II diabetes mellitus |
OMIM:615703 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Stt3B-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum, Failure to thrive |
ORPHA:370924 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Failure to thrive, Hypospadias |
OMIM:618874 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Micropenis, Small scrotum, Failure to thrive |
OMIM:615597 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... |
ORPHA:3085 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal circulating l... |
ORPHA:2298 |
Autosomal Recessive Amelia |
|
Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:1027 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... |
ORPHA:769 |
Pituitary Gigantism |
|
Tall stature, Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Incre... |
ORPHA:99725 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
Intellectual Developmental Disorder, X-Linked 92 |
|
Decreased testicular size |
OMIM:300851 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
Stankiewicz-Isidor Syndrome |
|
Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis |
OMIM:617516 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis |
OMIM:301900 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity |
ORPHA:893 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Bifid scrotum |
ORPHA:1547 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... |
ORPHA:791 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Type II diabetes mellitus, Displacement of the uret... |
ORPHA:2377 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity |
ORPHA:2183 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615993 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Cryptorchidism, Abnormality of the scrotum, Small scrotum, Hypospadias |
ORPHA:2505 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, Disproportionate tall stature, Tall stature |
OMIM:309520 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:168593 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615981 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction |
ORPHA:481 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... |
ORPHA:171706 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Delaye... |
OMIM:300148 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Hypothyroidism |
ORPHA:85321 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity, Hypospadias |
OMIM:615985 |
Congenital Myopathy 9A |
|
Cryptorchidism, Obesity |
OMIM:618822 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Laurence-Moon Syndrome |
|
Micropenis, Small scrotum, Obesity |
OMIM:245800 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Cryptorchidism, Shawl scrotum |
ORPHA:1778 |
X-Linked Intellectual Disability, Abidi Type |
|
Decreased testicular size |
ORPHA:85273 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Truncal obesity, Hypogonadism, Decreased test... |
ORPHA:127 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Shawl scrotum |
ORPHA:85277 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Adrenal insuffic... |
OMIM:617053 |
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness |
|
Shawl scrotum |
OMIM:614187 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Micropenis, Childhood-onset truncal obesity |
OMIM:610156 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... |
OMIM:615109 |
Becker Nevus Syndrome |
|
Hypoplastic labia minora, Abnormality of the scrotum, Supernumerary nipple |
ORPHA:64755 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98754 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Failure to thrive |
ORPHA:217346 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... |
ORPHA:3464 |
Currarino Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism |
ORPHA:1552 |
Fetal Hydantoin Syndrome |
|
Bifid scrotum, Cryptorchidism |
ORPHA:1912 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Small for gestational age, Elevated circulating luteinizing hormone level, Hypoplasia of the uter... |
OMIM:618419 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypospadias |
OMIM:606851 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177904 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
OMIM:616222 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177901 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Cryptorchidism, Obesity |
OMIM:615633 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Small for gestational age, Decreased testicular size, Decreased body weight |
ORPHA:93950 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism |
ORPHA:1295 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity |
ORPHA:177910 |
Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Diabetes mellitus, Shawl scrotum, Pancreatic aplasia |
ORPHA:261265 |
Aarskog-Scott Syndrome |
|
Cryptorchidism, Shawl scrotum |
ORPHA:915 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum testosterone concentration, Failure to thrive, Hypogonadism, Decreased testicular... |
OMIM:201100 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Micropenis, Decreased response to growth hormone stimulation test, Ove... |
ORPHA:457240 |
Martin-Probst Syndrome |
|
Bifid scrotum, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypothyroidism |
OMIM:300519 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis |
ORPHA:3134 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size |
OMIM:614838 |
Penoscrotal Transposition |
|
Abnormal external genitalia, Hypospadias, Penoscrotal transposition, Shawl scrotum |
ORPHA:2842 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Amenorrhea, Weight loss, Infertility, Erectile ... |
ORPHA:465508 |
Trisomy 20P |
|
Macroorchidism, Cryptorchidism, Hypospadias |
ORPHA:261318 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... |
OMIM:158350 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism |
OMIM:614613 |
Trisomy 5P |
|
Hypoplasia of penis, Obesity |
ORPHA:1742 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Small scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia |
ORPHA:1300 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Failure to thrive, Increased circulating androgen concentration |
ORPHA:79320 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Overgrowth, Unilateral cryptorchidism, Tall stature, Large for gestational age |
ORPHA:137634 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... |
OMIM:600955 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Cryptorchidism, Increased body weight |
ORPHA:589905 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Cryptorchidism, Hypospadias, Decreased testicular size |
OMIM:300997 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... |
OMIM:616113 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Hypospadias, Glandular hypospadias, Shawl scrotum |
ORPHA:2575 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
Acrofrontofacionasal Dysostosis 2 |
|
Bifid scrotum, Hypospadias, Shawl scrotum |
OMIM:239710 |
3Mc Syndrome 3 |
|
Bifid scrotum, Cryptorchidism, Micropenis, Penoscrotal hypospadias |
OMIM:248340 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... |
ORPHA:398069 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency |
ORPHA:101006 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... |
ORPHA:90301 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... |
OMIM:617253 |
Chromosome Xq26.3 Duplication Syndrome |
|
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis... |
OMIM:300942 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Azoospermi... |
ORPHA:280679 |
Craniofrontonasal Dysplasia |
|
Hypospadias, Shawl scrotum |
ORPHA:1520 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Cryptorchidism, Failure to thrive, Hypospadias |
OMIM:613026 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Cryptorchidism, Disproportionate tall stature, Abnormality of the Leydig cells, Test... |
ORPHA:3063 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Azoospermia, Type I... |
ORPHA:10 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Cryptorchidism, Delayed puberty |
ORPHA:486815 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Obesity, Azoospermia, Hypogonadism, Type II d... |
ORPHA:96263 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Cryptorchidism, Small scrotum |
ORPHA:1970 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Vaginal atresia |
OMIM:605231 |
Chung-Jansen Syndrome |
|
Cryptorchidism, Obesity |
OMIM:617991 |
Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis |
OMIM:312830 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Hypospadias |
ORPHA:66629 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
ORPHA:96184 |
Urban-Rogers-Meyer Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Obesity |
ORPHA:3409 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele |
ORPHA:71273 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
Carpenter Syndrome |
|
Abnormal reproductive system morphology, Cryptorchidism, External genital hypoplasia, Obesity |
ORPHA:65759 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Abnormal mo... |
ORPHA:887 |
Lymphatic Filariasis |
|
Orchitis, Epididymitis, Vaginal hydrocele, Hydrocele testis, Abnormality of the scrotum |
ORPHA:2035 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:2083 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Delayed puberty, Hypere... |
ORPHA:456312 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyposp... |
ORPHA:2959 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cryptorchidism, Micropenis, Hypospadias, Shawl scrotum |
OMIM:600460 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Cryptorchidism, Small scrotum, Hypogonadism |
ORPHA:228390 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615996 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... |
ORPHA:79644 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, H... |
ORPHA:3157 |
Joubert Syndrome 37 |
|
Cryptorchidism, Micropenis, Decreased testicular size, Obesity |
OMIM:619185 |
Cln3 Disease |
|
Increased circulating androgen concentration |
ORPHA:228346 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Wiedemann-Rautenstrauch Syndrome |
|
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:3455 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Cryptorchidism, Prominent scrotal raphe |
ORPHA:1555 |
Diphallia |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Cryptorchidism, Epispadias, Penoscrotal transp... |
ORPHA:227 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Short Stature-Micrognathia Syndrome |
|
Small scrotum, Cryptorchidism, Decreased body weight, Micropenis, Failure to thrive, Penoscrotal ... |
OMIM:617164 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Warburg Micro Syndrome 4 |
|
Cryptorchidism, Micropenis, Small scrotum, Decreased testicular size |
OMIM:615663 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:614842 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Prader-Willi Syndrome |
|
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:176270 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Obesity |
ORPHA:171839 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Cr... |
ORPHA:94065 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Micropenis |
ORPHA:2282 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Penoscrotal transposition |
OMIM:619148 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypospadias, Small for gestational age, Cryptorchidism, Long penis, Hypoplasia of the thymus, Inc... |
OMIM:264090 |
Dowling-Degos Disease |
|
Scrotal hyperpigmentation, Penile freckling |
ORPHA:79145 |
Sheehan Syndrome |
|
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... |
ORPHA:91355 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Cryptorchidism, Decreased body weight, Micropenis, Shawl scrotum |
OMIM:300895 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Cryptorchidism, Micropenis |
ORPHA:363659 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Ambiguous genitalia, Micro... |
OMIM:257300 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Cryptorchidism, Small scrotum, Breast hypoplasia, Shawl scrotum |
OMIM:601353 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Hypospadias |
ORPHA:1784 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Cryptorchidism, Obesity, Hypogonadism, Micropenis |
OMIM:615547 |
Igg4-Related Retroperitoneal Fibrosis |
|
Varicocele, Weight loss, Hydrocele testis, Impotence, Retrograde ejaculation, Hashimoto thyroiditis |
ORPHA:49041 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... |
ORPHA:813 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypogonadism |
ORPHA:2983 |
Macrocephaly/Autism Syndrome |
|
Penile freckling, Large for gestational age, Obesity, Hydrocele testis, Overgrowth |
OMIM:605309 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Hypoinsulinemia, Large for gestational age |
OMIM:240900 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
Ohdo Syndrome |
|
Cryptorchidism, Small scrotum |
OMIM:249620 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Bardet-Biedl Syndrome 3 |
|
External genital hypoplasia, Obesity |
OMIM:600151 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Cryptorchidism, Micropenis, Small scrotum, Microphallus |
OMIM:300486 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis |
OMIM:140000 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Micropenis, Small scrotum, Small for gestational age |
OMIM:610756 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... |
OMIM:614450 |
Gm1 Gangliosidosis |
|
Failure to thrive, Abnormality of the scrotum, Weight loss |
ORPHA:354 |
49,Xxxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypogonadism, Type II diabetes m... |
ORPHA:96264 |
Barber-Say Syndrome |
|
Failure to thrive, Breast aplasia, Hypoplastic nipples, Shawl scrotum |
ORPHA:1231 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Obesity |
ORPHA:464288 |
Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Diabetes mellitus, Pancreatic fibrosis, Delayed puberty, Failure to thrive, Hypothyroidism, Shawl... |
OMIM:616263 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Hypospadias, Small for gestational age, Supernumerary nipple, Glandular hypospadias, Hypoplastic ... |
OMIM:604314 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar hyperhidrosis, Ambiguous genita... |
OMIM:610644 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperi... |
ORPHA:276608 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Hypoplastic nipples, Micropenis |
OMIM:615546 |
13Q12.3 Microdeletion Syndrome |
|
Cryptorchidism, Failure to thrive, Obesity |
ORPHA:412035 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
Warburg Micro Syndrome 3 |
|
Hypoplastic labia minora, Micropenis, Small scrotum, Decreased testicular size |
OMIM:614222 |
Warburg Micro Syndrome 2 |
|
Hypoplastic labia majora, Cryptorchidism, Micropenis, Small scrotum |
OMIM:614225 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight, Hypothyroidism |
OMIM:617796 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cryptorchidism, Small scrotum |
ORPHA:2728 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... |
ORPHA:495875 |
Oeis Complex |
|
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Cryptorchidism, Micropenis, Hypospadias, Shawl scrotum |
OMIM:301040 |
Craniofrontonasal Syndrome |
|
Hypospadias, Cryptorchidism, Shawl scrotum, Unilateral breast hypoplasia, Breast hypoplasia |
OMIM:304110 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Failure to thrive, Macroorchidism |
OMIM:619950 |
Noonan Syndrome 8 |
|
Cryptorchidism, Failure to thrive, Large for gestational age |
OMIM:615355 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... |
OMIM:612462 |
Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... |
ORPHA:97278 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Failure to thrive, Shawl scrotum |
ORPHA:261279 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Micropenis, Failure to thrive |
OMIM:607143 |
Meier-Gorlin Syndrome 1 |
|
Small for gestational age, Cryptorchidism, Hypoplastic labia minora, Hypoplastic labia majora, Sh... |
OMIM:224690 |
Autosomal Dominant Centronuclear Myopathy |
|
Cryptorchidism, Large for gestational age |
ORPHA:169189 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... |
OMIM:608747 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Cryptorchidism, Micropenis, Small scrotum |
ORPHA:98905 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ma... |
ORPHA:322 |
Grfoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... |
ORPHA:97261 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Abnormal penis morphology, Hypospadias, Epispadias, Shawl scrotum |
ORPHA:2211 |
20Q13.33 Microdeletion Syndrome |
|
Small for gestational age, Hypospadias, Decreased scrotal rugation, Failure to thrive in infancy |
ORPHA:261311 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Small fo... |
ORPHA:268261 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis, Pancreatitis |
OMIM:619471 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Cachexia, Obesity, Hyperhidrosis, Hypogonadism, Decreased testicular size |
ORPHA:85293 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Neoplasm of the thymus, Enlarged polycystic ov... |
ORPHA:744 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Cryptorchidism, Small scrotum |
ORPHA:1968 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum, T... |
ORPHA:2745 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Diabetes mellitus, Small scrotum, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism |
OMIM:614231 |
Senior-Loken Syndrome 9 |
|
Hypogonadism, Obesity |
OMIM:616629 |
Tatton-Brown-Rahman Syndrome |
|
Cryptorchidism, Neuroendocrine neoplasm, Proportionate tall stature, Obesity |
ORPHA:404443 |
Beta-Ureidopropionase Deficiency |
|
Bifid scrotum |
OMIM:613161 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Trisomy 1Q |
|
Ambiguous genitalia, Cryptorchidism, Small scrotum |
ORPHA:261344 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... |
OMIM:615830 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Hypospadias, Large for gestational age |
ORPHA:457485 |
Luscan-Lumish Syndrome |
|
Overgrowth, Irregular menstruation, Obesity, Polycystic ovaries |
OMIM:616831 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity |
OMIM:603233 |
Noonan Syndrome 5 |
|
Cryptorchidism, Large for gestational age |
OMIM:611553 |
Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... |
OMIM:103580 |
Bachmann-Bupp Syndrome |
|
Cryptorchidism, Large for gestational age |
OMIM:619075 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Cryptorchidism, Shawl scrotum |
OMIM:227330 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Hypothyroidism |
ORPHA:254346 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Bifid scrotum, Hypoplastic labia minora, Small scrotum, Hypoplastic labia majora |
ORPHA:324540 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Obesity, Breast aplasia, Hypoplastic ni... |
ORPHA:3138 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Large for gestational age |
OMIM:616638 |
Wagro Syndrome |
|
Hypoplastic female external genitalia, Decreased testicular size, Obesity |
OMIM:612469 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Large for gestational age, Cryptorchidism,... |
OMIM:229850 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Prominent scrotal raphe, Hypoplastic labia majora, Hypospadias |
OMIM:123790 |
Chromosome 10Q26 Deletion Syndrome |
|
Cryptorchidism, Micropenis, Small scrotum, Small for gestational age |
OMIM:609625 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Micropenis, Increased body weight |
OMIM:300860 |
Meier-Gorlin Syndrome 3 |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia minora, Micropenis, Failure to thri... |
OMIM:613803 |
Obesity And Hypopigmentation |
|
Overgrowth, Hyperinsulinemia, Obesity |
OMIM:620195 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Imperforate hymen, Obe... |
OMIM:181450 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Overweight, Cryptorchidism, Hypogonadism, Micropenis, Dilated third ventricle |
ORPHA:500055 |
Aspartylglucosaminuria |
|
Macroorchidism |
OMIM:208400 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Aspartylglucosaminuria |
|
Macroorchidism |
ORPHA:93 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Large for gestational age, Decreased response to growth hormone stimulation test, Supernumerary n... |
OMIM:213980 |
Kleefstra Syndrome 1 |
|
Cryptorchidism, Micropenis, Hypospadias, Obesity |
OMIM:610253 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Robinow Syndrome |
|
Small scrotum, Small for gestational age, External genital hypoplasia, Cryptorchidism, Micropenis... |
ORPHA:97360 |
Werner Syndrome |
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Decreased fertility, Secondary amenorrhea, Ovarian neoplasm, Hypogonadism, Thyroid carcinoma, Typ... |
ORPHA:902 |
Glucagonoma |
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Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97280 |
Genitopatellar Syndrome |
|
Cryptorchidism, Small scrotum, Clitoral hypertrophy |
ORPHA:85201 |
Multiple Endocrine Neoplasia Type 1 |
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Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Primary hypothyroidism, Ambiguous geni... |
ORPHA:96176 |
Cardiac-Urogenital Syndrome |
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Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... |
OMIM:618280 |
Autosomal Recessive Multiple Pterygium Syndrome |
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Hypoplasia of penis, Small scrotum, Cryptorchidism, Absence of labia majora, Hypogonadism, Failur... |
ORPHA:2990 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Bardet-Biedl Syndrome 17 |
|
Micropenis, Hypogonadism, Obesity |
OMIM:615994 |
Bardet-Biedl Syndrome 1 |
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Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Truncal ob... |
OMIM:209900 |
Endocrine-Cerebroosteodysplasia |
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Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig... |
OMIM:612651 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
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Hypoplasia of penis, Failure to thrive, Cryptorchidism, Obesity, Abnormal testis morphology |
ORPHA:96147 |
Specc1L-Related Hypertelorism Syndrome |
|
Cryptorchidism, Female pseudohermaphroditism, Shawl scrotum |
ORPHA:1519 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Recombinant 8 Syndrome |
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Cryptorchidism, Small scrotum, Hypoplastic male external genitalia |
ORPHA:96167 |
Bardet-Biedl Syndrome 12 |
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Obesity, Hypogonadism, Vaginal atresia, Hydrometrocolpos |
OMIM:615989 |
14Q22Q23 Microdeletion Syndrome |
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Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ... |
ORPHA:264200 |
Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... |
ORPHA:97287 |
Distal Triplication 15Q |
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Hydrocele testis, Birth length greater than 97th percentile, Abnormal external genitalia, Large f... |
ORPHA:314588 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Micropenis |
OMIM:609945 |
Charge Syndrome |
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Bifid scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Abnormality of the adre... |
ORPHA:138 |
Carney Complex, Type 1 |
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Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Pudendal Neuralgia |
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Dyspareunia, Impotence, Scrotal pain |
ORPHA:60039 |
Acromegaly |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:963 |
Spastic Paraplegia 26, Autosomal Recessive |
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Decreased serum testosterone concentration |
OMIM:609195 |
8P23.1 Microdeletion Syndrome |
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Cryptorchidism, Hypospadias, Obesity, Weight loss |
ORPHA:251071 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Small scrotum, Hypogonadism, Hypohidrosis |
ORPHA:3253 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Bi... |
OMIM:270400 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Dysmenorrhea, Irregular menstruation, Increased body weight, Polycystic ovaries, Oligomenorrhea, ... |
ORPHA:264580 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:94086 |
Sotos Syndrome |
|
Cryptorchidism, Overgrowth, Increased body weight, Tall stature |
OMIM:117550 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration |
ORPHA:2976 |
Townes-Brocks Syndrome |
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Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Failure to thrive, Crypto... |
ORPHA:857 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Cryptorchidism, Small scrotum |
ORPHA:2215 |
Bent Bone Dysplasia Syndrome 2 |
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Micropenis, Shawl scrotum |
OMIM:620076 |
Carpenter Syndrome 2 |
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Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Obesity, Hypoplastic nipples, Sha... |
OMIM:614976 |
Cystic Echinococcosis |
|
Ovarian cyst, Abnormality of the testis size, Weight loss |
ORPHA:400 |
Somatomammotropinoma |
|
Tall stature, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulatin... |
ORPHA:314769 |
Pituitary Adenoma 4, Acth-Secreting |
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Pituitary adenoma, Obesity, Increased circulating ACTH level, Abdominal obesity, Oligomenorrhea |
OMIM:219090 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Dysmenorrhea, Irregular menstruation, Increased body weight, Polycystic ovaries, Oligomenorrhea |
ORPHA:79240 |
Perlman Syndrome |
|
Cryptorchidism, Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:267000 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Cryptorchidism, Micropenis, Small scrotum |
ORPHA:495818 |
Elsahy-Waters Syndrome |
|
Bilateral cryptorchidism, Hypospadias, Bifid scrotum, Penoscrotal hypospadias |
OMIM:211380 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic isl... |
ORPHA:263455 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt... |
OMIM:107480 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Small for gestational age, Premature thelarche, Bilateral cryptorchidism, Cryptorchi... |
OMIM:180849 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele |
OMIM:136140 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Absent scrotum |
OMIM:618479 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:99413 |
Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:881 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... |
ORPHA:99226 |
Floating-Harbor Syndrome |
|
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Epididymal cyst, Vari... |
ORPHA:2044 |
Wilson Disease |
|
Weight loss, Failure to thrive, Increased body weight, Abnormality of the menstrual cycle |
ORPHA:905 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Shawl scrotum |
ORPHA:1974 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia... |
ORPHA:861 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Alkuraya-Kucinskas Syndrome |
|
Micropenis, Small scrotum |
OMIM:617822 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Hypospadias, Overweight, Obesity, Decreased body weight, Micropenis, Failure to th... |
OMIM:619475 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cryptorchidism, Small scrotum, Microphallus, Supernumerary nipple |
OMIM:618454 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Bilateral breast hypoplasia, Obesity, Primary amenorrhea |
ORPHA:319675 |
Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Overweight, Obesity, Cholelithiasis, Pancreatitis |
ORPHA:69663 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Cryptorchidism, Micropenis, Obesity, Supernumerary nipple |
OMIM:618653 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Increased body weight |
OMIM:182290 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypospadias, Supernumerary nipple |
OMIM:235730 |
Microphthalmia, Syndromic 6 |
|
Failure to thrive, Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anteri... |
OMIM:607932 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Small scrotum |
OMIM:617667 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Cryptorchidism, Small scrotum, Hypospadias |
OMIM:616734 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... |
OMIM:269150 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Hypospadias, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Decreased testicul... |
OMIM:309580 |
Genitopatellar Syndrome |
|
Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypoplasia, Micropenis, Hypothyroidi... |
OMIM:606170 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... |
ORPHA:2052 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Oligomenor... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Webbed pen... |
ORPHA:261537 |
Fontaine Progeroid Syndrome |
|
Absent nipple, Small scrotum, Small for gestational age, Cryptorchidism, Hypoplastic labia majora... |
OMIM:612289 |
Pachydermoperiostosis |
|
Elevated circulating growth hormone concentration, Hyperhidrosis |
ORPHA:2796 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Small for gestational age, Bile duct proliferation, Failure to thrive, Slender build |
OMIM:613658 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Webbed pen... |
ORPHA:261552 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical cytomegaly, Large for gestational age, Cryptorchidism, Adrenocortical carcinoma, A... |
ORPHA:116 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Elevated circul... |
ORPHA:79318 |
Pallister-Killian Syndrome |
|
Anhidrosis, Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Obesity, Hypohidros... |
OMIM:601803 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum |
OMIM:620330 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |