| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
| Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
| Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... |
OMIM:300068 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... |
OMIM:240950 |
| 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 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Clitoral hypertrophy, Isosexual precoci... |
ORPHA:90795 |
| Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... |
OMIM:618187 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... |
ORPHA:314478 |
| Gonadoblastoma |
|
Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s... |
ORPHA:206484 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
| 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 |
| Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... |
ORPHA:90791 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
| Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
| Premature Ovarian Failure 14 |
|
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Oligomenorrhea |
OMIM:604931 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
| Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Central Precocious Puberty In Male |
|
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Hypothalamic hamarto... |
ORPHA:649929 |
| Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... |
ORPHA:247768 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... |
OMIM:614841 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... |
OMIM:202010 |
| 46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
| 46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level |
OMIM:618901 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Shyness, Cryptorchidism, Increased circulating gonad... |
ORPHA:163971 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... |
OMIM:616030 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... |
OMIM:618841 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
| 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 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... |
ORPHA:289548 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| 46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Type I... |
ORPHA:254516 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Cryptorchidism, Self-biting, Gonadal dysg... |
ORPHA:3306 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
| Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... |
ORPHA:99725 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
| 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 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98793 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Secondary amenorrhea, Premature pubarche |
OMIM:612847 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| 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 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... |
OMIM:614897 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... |
OMIM:300869 |
| 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 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Ago... |
ORPHA:983 |
| Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... |
ORPHA:96181 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of pubertal... |
OMIM:618078 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
| 49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:261534 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
| Septopreoptic Holoprosencephaly |
|
Impulsivity, Precocious puberty, Dysphagia, Anterior hypopituitarism, Central diabetes insipidus |
ORPHA:280195 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty |
ORPHA:217377 |
| Perrault Syndrome 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233400 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... |
OMIM:300624 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... |
ORPHA:3044 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... |
OMIM:614736 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Intellectual Developmental Disorder, Autosomal Recessive 76 |
|
Self-injurious behavior, Precocious puberty in females |
OMIM:619931 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Attention deficit hyperactivity disorder, Supernumerary nipple |
OMIM:619243 |
| O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Self-injurious behavior, Skin-picking, Aggressive behavior |
OMIM:618512 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| 46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Dystonia 28 |
|
Precocious puberty, Hypothyroidism, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:589618 |
| Cortisone Reductase Deficiency 2 |
|
Premature pubarche |
OMIM:614662 |
| 49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Impulsivity, Increased circulating g... |
ORPHA:99330 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Compulsive behaviors... |
ORPHA:398069 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity |
OMIM:300143 |
| Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
| Coffin-Siris Syndrome 8 |
|
Cryptorchidism, Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:618362 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Cryptorchidism, Premature pubarche |
ORPHA:457205 |
| Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Macroorchidism |
ORPHA:3077 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decreased testi... |
OMIM:614962 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... |
ORPHA:769 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
| Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Impaired social interactions, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:614842 |
| Fragile X Syndrome |
|
Macroorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder |
ORPHA:908 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad... |
OMIM:308700 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
| Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
| Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Decreased testicular size, Maturity-onset diabetes of the young |
OMIM:616222 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... |
ORPHA:3085 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Attention deficit hyperactivity disorder, Polycystic ovaries |
ORPHA:284180 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Anorexia, Precocious puberty, Ovarian neoplasm, Neoplasm ... |
ORPHA:370348 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic k... |
OMIM:262190 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Absence of pubertal deve... |
OMIM:212840 |
| Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty, Shyness |
OMIM:300801 |
| Prader-Willi Syndrome |
|
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:176270 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
| Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Hyperactivity, Aggressive behavior |
OMIM:300958 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty, Head-banging |
OMIM:619356 |
| Microcephaly 9, Primary, Autosomal Recessive |
|
Impulsivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Motor tics |
OMIM:614852 |
| 19P13.3 Microduplication Syndrome |
|
Precocious puberty, Self-injurious behavior, Hyperactivity, Unilateral cryptorchidism |
ORPHA:447980 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Self-mutilation |
OMIM:604317 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty |
ORPHA:254525 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Abnormal repetitive mannerisms |
OMIM:619877 |
| Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Hyperhid... |
ORPHA:813 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... |
ORPHA:2298 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Male hypogonadism, Restlessness, Bruxism |
OMIM:300055 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Labial hypoplasia, Attention deficit hyperactivity disorder, ... |
OMIM:620073 |
| Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Cryptorchidism, Maturity-onset diabetes of the young |
ORPHA:96184 |
| Keratoderma Hereditarium Mutilans |
|
Self-injurious behavior, Hypogonadotropic hypogonadism |
ORPHA:494 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:95513 |
| Donohue Syndrome |
|
Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell hyperplasia... |
OMIM:246200 |
| Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, St... |
OMIM:618917 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Lujan-Fryns Syndrome |
|
Macroorchidism, Attention deficit hyperactivity disorder |
ORPHA:776 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Cryptorchidism, Polyphagia, Self-injurious behavior, Abnormal... |
ORPHA:228402 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, Self-injurious behavior, Hypothyr... |
ORPHA:254346 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty |
ORPHA:293181 |
| Ollier Disease |
|
Precocious puberty |
ORPHA:296 |
| Woolly Hair Nevus |
|
Precocious puberty |
ORPHA:79414 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Abnormal temper tantrums, S... |
ORPHA:163681 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
| Obsessive-Compulsive Disorder |
|
Collectionism, Compulsive behaviors, Skin-picking |
OMIM:164230 |
| Optic Pathway Glioma |
|
Precocious puberty |
ORPHA:2086 |
| Tonne-Kalscheuer Syndrome |
|
Hypospadias, Shyness, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Dysphagia, Mi... |
OMIM:300978 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:79085 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
| Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Dysphagia, Bicornuate uterus, Shawl... |
ORPHA:2745 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
| Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... |
ORPHA:90674 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Small scrotum, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavio... |
OMIM:620330 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Pancreatitis |
ORPHA:79084 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms |
OMIM:616393 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplastic labia major... |
OMIM:618419 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycy... |
OMIM:268020 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435651 |
| Brunner Syndrome |
|
Self-injurious behavior, Impulsivity, Aggressive behavior |
OMIM:300615 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development... |
OMIM:610628 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Compulsive behaviors |
ORPHA:485350 |
| Angelman Syndrome |
|
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Self-injurio... |
ORPHA:72 |
| Choreoacanthocytosis |
|
Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Agg... |
ORPHA:2388 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency, Pseudobulbar paralysis |
ORPHA:101006 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Hypothyroidism, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:819 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Self-mutilation, Micropenis, Abnormal repe... |
ORPHA:457240 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... |
OMIM:604367 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
| Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogo... |
ORPHA:91351 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435660 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Compulsive behaviors, Impaired social interactions, Macroorch... |
OMIM:309520 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:617820 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Stereotypical hand wringing, Impaired social interactions |
ORPHA:397933 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
| Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Precocious puberty, Attention deficit hyperactivity disorder, D... |
OMIM:619312 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... |
ORPHA:508 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
| Basilicata-Akhtar Syndrome |
|
Precocious puberty |
OMIM:301032 |
| Luscan-Lumish Syndrome |
|
Shyness, Aggressive behavior, Irregular menstruation, Polycystic ovaries, Polyphagia |
OMIM:616831 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma |
ORPHA:2869 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Isosexual precocious puberty |
ORPHA:2788 |
| Cln3 Disease |
|
Left ventricular hypertrophy, Dysphagia, Aggressive behavior, Increased circulating androgen conc... |
ORPHA:228346 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Precocious puberty, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Attention... |
ORPHA:96092 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch... |
ORPHA:96182 |
| 9P13 Microdeletion Syndrome |
|
Precocious puberty, External genital hypoplasia, Attention deficit hyperactivity disorder, Bruxism |
ORPHA:324313 |
| Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Ataxia-Telangiectasia |
|
Diabetes mellitus, Polycystic ovaries, Type II diabetes mellitus, Delayed puberty, Abnormal testi... |
ORPHA:100 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Amenorrhea |
OMIM:602390 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Pheochromocytoma, Hyperhidrosis |
ORPHA:2874 |
| Schaaf-Yang Syndrome |
|
Impulsivity, Cryptorchidism, Hypogonadism, Skin-picking, Micropenis, Polyphagia |
OMIM:615547 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:447997 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Self-injurious behavior |
ORPHA:261652 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries |
OMIM:608709 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Ameno... |
ORPHA:465508 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Cardiomegaly |
ORPHA:324410 |
| Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
| Bainbridge-Ropers Syndrome |
|
Supernumerary nipple, Precocious puberty, Cryptorchidism, Self-injurious behavior, Recurrent hand... |
OMIM:615485 |
| Slc35A2-Cdg |
|
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration |
ORPHA:356961 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Self-injurious behavior |
OMIM:613641 |
| Caudal Duplication |
|
Abnormal penis morphology, Cryptorchidism, Uterus didelphys |
ORPHA:1756 |
| Alg6-Cdg |
|
Puberty and gonadal disorders, Increased circulating androgen concentration |
ORPHA:79320 |
| Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Self-biting |
OMIM:619988 |
| Carpenter Syndrome 1 |
|
Precocious puberty, Cryptorchidism, External genital hypoplasia |
OMIM:201000 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Cryptorc... |
ORPHA:2588 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Monosomy 22Q13.3 |
|
Hair-pulling, Hyperactivity, Bruxism, Hypohidrosis |
ORPHA:48652 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Hypothyroidism, Uterus didelphys |
ORPHA:2491 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant... |
ORPHA:79083 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Hypogonadism, Decreased serum testosterone concentration, Decreased t... |
OMIM:201100 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Self-mutilation, Inappropriate laughter, Aggressive behavior |
OMIM:616269 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
| Intellectual Developmental Disorder, Autosomal Recessive 43 |
|
Self-injurious behavior |
OMIM:615817 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Decreased testicular size, External genital hypoplasia, Hypogonadism, Micropenis, Self-mutilation |
ORPHA:3041 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias |
OMIM:618874 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious puberty, Cry... |
ORPHA:96191 |
| Distal Deletion 10P |
|
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
| Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... |
OMIM:617253 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Impulsivity, Supernumerary nipple, Cryptorchidism, Interhypothalamic adhesion, Self-injurious beh... |
OMIM:618929 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Amenorrhea |
OMIM:600705 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Ambi... |
OMIM:202110 |
| 16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test, Bilateral cryp... |
ORPHA:485405 |
| Omodysplasia 2 |
|
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... |
OMIM:164745 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Cryptorchidism, Self-injurious behavior, Hypospadias |
ORPHA:435938 |
| Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Self-injurious behavior, Aggressive behavior |
OMIM:300699 |
| Frasier Syndrome |
|
Gonadal dysgenesis, Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea |
OMIM:136680 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Abnormality of female external genitalia, Attention deficit hyperactivity dis... |
ORPHA:2637 |
| Developmental And Epileptic Encephalopathy 59 |
|
Self-injurious behavior |
OMIM:617904 |
| Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Self-mutilation |
OMIM:300884 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Self-injurious behavior, Inappropriate laughter, Stereotypical hand wringing, Bruxism |
OMIM:614254 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyposp... |
ORPHA:2959 |
| Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Paroxysmal bursts of laug... |
ORPHA:672 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ova... |
ORPHA:2348 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Impulsivity, Aggressive behavior, Cryptorchidism, Obsessive-compulsive trait, Hypogonadism, Abnor... |
ORPHA:500055 |
| Alexander Disease |
|
Diabetes mellitus, Precocious puberty, Hyperhidrosis, Self-injurious behavior, Dysphagia, Hypothy... |
ORPHA:58 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, Stereotypical hand wringing |
OMIM:618760 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
| Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder, D... |
ORPHA:494344 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Small scrotum, Cryptorchidism, Microphallus, Micropenis, Abnormal repetitive manne... |
OMIM:300486 |
| Preeclampsia |
|
Type I diabetes mellitus, Polycystic ovaries |
ORPHA:275555 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... |
OMIM:618718 |
| N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Oral-pharyngeal dysphagia, Hypothyroidism, Premature thelarche, Premature pubarche |
OMIM:616878 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty |
OMIM:163200 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Rectovaginal fistula |
OMIM:608980 |
| Trisomy 20P |
|
Macroorchidism, Cryptorchidism, Hypospadias |
ORPHA:261318 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Shyness, Aggressive behavior, Abnormal repetit... |
ORPHA:449291 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Self-injurious behavior, Agitation, Aggressive behavior |
OMIM:616116 |
| Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... |
ORPHA:201 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Hypothyroidism, Self-injurious behavior, Skin-picking, Abnorm... |
OMIM:600430 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
| Cri-Du-Chat Syndrome |
|
Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Abnormal repetitive mannerisms, ... |
OMIM:123450 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... |
ORPHA:363958 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Attention deficit hyperactivity disorder, Adrenal hypoplasia |
OMIM:619151 |
| Tuberous Sclerosis 1 |
|
Precocious puberty, Adenoma sebaceum, Hypothyroidism, Attention deficit hyperactivity disorder |
OMIM:191100 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Tay-Sachs Disease |
|
Precocious puberty, Abnormal thalamic MRI signal intensity, Dysphagia, Hepatosplenomegaly |
ORPHA:845 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Left ventricular hypertrophy, Micropenis, Decreased testicular size, Ri... |
ORPHA:335 |
| 13Q12.3 Microdeletion Syndrome |
|
Cryptorchidism, Hyperactivity, Self-mutilation |
ORPHA:412035 |
| Transketolase Deficiency |
|
Hepatomegaly, Secondary amenorrhea, Self-injurious behavior, Compulsive behaviors, Attention defi... |
ORPHA:488618 |
| Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... |
OMIM:615109 |
| Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:3455 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Hepatomegaly, Hyperactivity, Small scrotum, Hypospadias, Septate vagina, Aggressiv... |
OMIM:270400 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:618218 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... |
OMIM:616113 |
| Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... |
OMIM:615108 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypospadias, Cryptorchidism, Long penis, Dysphagia, Hypoplasia of the thymus, Increased serum tes... |
OMIM:264090 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Hypospadias, Type II diabetes mellitus |
OMIM:210720 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Micropenis, Aggressive behavior |
OMIM:300860 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Hyperactivity, Compulsive behaviors, Aggressive behavior |
OMIM:619467 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Impulsivity, Precocious puberty, Agitation, Attention deficit hyperactivity disorder, Bruxism, Ma... |
OMIM:619950 |
| Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Restlessness, Self-mutilation, Dysphagia, Aggressive behavior |
OMIM:615075 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Aggressi... |
ORPHA:268261 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Hepatomegaly, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
| Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
| Developmental And Epileptic Encephalopathy 31A |
|
Self-injurious behavior |
OMIM:616346 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
ORPHA:382 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Aggressive behavior, Precocious puberty, Hepatosplenomegaly, Cholelithiasis, Abnorm... |
OMIM:301066 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Cryptorchidism, Abnormal repetitive mannerisms |
OMIM:616682 |
| Prune Belly Syndrome |
|
Cryptorchidism, Decreased fertility, Abnormality of the uterus, Decreased testicular size, Urogen... |
ORPHA:2970 |
| Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
| Tuberous Sclerosis 2 |
|
Precocious puberty, Adenoma sebaceum, Hypothyroidism, Attention deficit hyperactivity disorder |
OMIM:613254 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Hypospadias, Tics, Inappropriate laughter, Obsessive-compulsive trait, Self-mutila... |
ORPHA:363686 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormality of the anter... |
ORPHA:438213 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:271980 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... |
OMIM:158350 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cryptorchidism, Micropenis, Self-mutilation, Aggressive behavior |
ORPHA:364028 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Hypospadias |
OMIM:615877 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Self-injurious behavior, Recurrent hand flapping |
OMIM:617268 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Self-injurious behavior, Hyperhidrosis |
OMIM:619922 |
| Floating-Harbor Syndrome |
|
Restlessness, Hypospadias, Impulsivity, Aggressive behavior, Precocious puberty, Cryptorchidism, ... |
ORPHA:2044 |
| Kabuki Syndrome |
|
Precocious puberty, Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:2322 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior... |
OMIM:261600 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Hyperactivity, Decreased response to growth hormone stimulation test |
OMIM:601853 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus, Abnormality of the uterus |
ORPHA:2143 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty |
ORPHA:369837 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Hypospadias, Supernumerary nipple, Aggressive behavior, Cryptorchidism, Self... |
ORPHA:261494 |
| Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Self-injurious behavior, Micropenis, Hyperactivity |
ORPHA:1934 |
| Lead Poisoning |
|
Decreased female libido, Anorexia, Abnormality of the menstrual cycle, Oligozoospermia, Decreased... |
ORPHA:330015 |
| Lesch-Nyhan Syndrome |
|
Self-injurious behavior, Testicular atrophy, Dysphagia |
OMIM:300322 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Type I diabetes mellitus |
OMIM:619269 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
OMIM:617695 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to growth hormone ... |
ORPHA:177907 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Decreased fertility ... |
OMIM:608594 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Abnormality of the thyroid gland, Self hugging, Head-banging, Onychotillomania, Ab... |
OMIM:182290 |
| Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Aggressive behavior, Bilateral cryptorchidism, Self-injurious behavior, Attention deficit hyperac... |
ORPHA:544488 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditism, Self-injuri... |
ORPHA:847 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Decreased fertility in females, Splenom... |
OMIM:269700 |
| Neurofibromatosis Type 1 |
|
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Pheochromocytoma, Attent... |
ORPHA:636 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Anorex... |
ORPHA:97278 |
| Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Endometriosis |
OMIM:613680 |
| Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Endometrial carcinoma, Aggressive behavior, Inappropriate laughter, Hypothyroidism, Self-mutilation |
ORPHA:457212 |
| 7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Polyphagia, Self-... |
ORPHA:96121 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Self-injurious behavior, Dysphagia |
OMIM:617493 |
| Parenti-Mignot Neurodevelopmental Syndrome |
|
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Skin-pick... |
OMIM:619873 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma |
OMIM:617100 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Impaired social interaction... |
OMIM:156200 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Anorex... |
ORPHA:97261 |
| 16P13.11 Microdeletion Syndrome |
|
Cryptorchidism, Self-injurious behavior, Compulsive behaviors |
ORPHA:261236 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Dysmenorrhe... |
ORPHA:280365 |
| Faundes-Banka Syndrome |
|
Cryptorchidism, Dysphagia, Premature thelarche, Delayed puberty |
OMIM:619376 |
| Microphthalmia, Lenz Type |
|
Cryptorchidism, Self-injurious behavior, Hypospadias |
ORPHA:568 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Polycystic ovaries, Oligomenorr... |
ORPHA:264580 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Self-mutilation, Dysphagia, Bruxism |
OMIM:619422 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... |
ORPHA:97282 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Polycystic ovaries, Oligomenorrhea |
ORPHA:79240 |
| Tolchin-Le Caignec Syndrome |
|
Precocious puberty, Attention deficit hyperactivity disorder |
OMIM:618971 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
| Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Cryptorchidism, Self-injurious behavior, Micropenis, Abnormal repetitive ma... |
OMIM:610954 |
| Kleefstra Syndrome 2 |
|
Self-injurious behavior |
OMIM:617768 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus, Abnormal repetitive manne... |
OMIM:194190 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97283 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, External genital hypoplasia, Aggressive behavior, Cryptorchidism, Self-mutilation, ... |
ORPHA:251028 |
| Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Enlarged polycystic ovaries, Spl... |
ORPHA:744 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Aggressive behavior, Cryptorchidism, Hypoplastic labia minora, Absence of labia majo... |
ORPHA:495875 |
| Deeah Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:619004 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Attention deficit hy... |
OMIM:616078 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:620023 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... |
OMIM:608747 |
| Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis |
OMIM:140000 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration |
ORPHA:2976 |
| Aicardi Syndrome |
|
Precocious puberty, Delayed puberty |
ORPHA:50 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder |
OMIM:617914 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Gonadal dysgenesis, Polycystic ovaries |
ORPHA:1770 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Aicardi Syndrome |
|
Precocious puberty, Dilated third ventricle |
OMIM:304050 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... |
ORPHA:79644 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, R... |
OMIM:137920 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Hypospadias, Absent vas deferens, Aplasia/Hypoplasia of the pancreas, Abnormal... |
ORPHA:93111 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
| Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm |
OMIM:175200 |
| Williams Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cardiomegaly, Precocious puberty, Cryptorchid... |
ORPHA:904 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:615866 |
| Cystic Echinococcosis |
|
Ovarian cyst, Abnormality of the testis size, Hepatomegaly |
ORPHA:400 |
| Limb-Mammary Syndrome |
|
Absent nipple, Primary amenorrhea, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hyp... |
ORPHA:69085 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
| Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Hypospadias, Premature thelarche, Impulsivity, Bilateral cryptorchidism, Cryptorch... |
OMIM:180849 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen... |
ORPHA:100924 |
| Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Annular pancreas, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
| Oeis Complex |
|
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration |
OMIM:609195 |
| Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97280 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus |
OMIM:606408 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh... |
ORPHA:293987 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus |
OMIM:263210 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, Abnormal repe... |
OMIM:619005 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Breast aplasia, Hypoplastic nipples, Ab... |
ORPHA:3138 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv... |
OMIM:300986 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
| Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Aggressive behavior, Self-biting, Stereotypical body rocking, Attention deficit hype... |
ORPHA:293939 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Central hypothyroidism, Stereotypical b... |
OMIM:300912 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Dysphagia, Panhypopituitar... |
OMIM:618922 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... |
ORPHA:99413 |
| Turner Syndrome |
|
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... |
ORPHA:99228 |
| Monosomy X |
|
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c... |
ORPHA:99226 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:238750 |
| Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Hypogonadism, Vagin... |
OMIM:209900 |
| Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... |
OMIM:617061 |
| Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Micropenis, Bicornuate uterus, Adrenal hypoplasia |
OMIM:264480 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ma... |
ORPHA:322 |
| Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Micropenis |
ORPHA:2896 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism |
OMIM:618004 |
| Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:314769 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... |
ORPHA:79086 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Elevated circulating growth hormone concentration, Anorexia, Increased circulating ... |
ORPHA:97287 |
| Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Self-mutilation |
OMIM:618522 |
| Joubert Syndrome 20 |
|
Self-mutilation, Aggressive behavior |
OMIM:614970 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Self-injurious behavior, Agitation |
OMIM:618339 |
| Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors |
OMIM:613174 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Self-injurious behavior |
OMIM:613638 |
| Hand-Foot-Genital Syndrome |
|
Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Acute pancreatitis, Hepatosplenomegaly, Left ventricular hypertrophy, Micropenis, H... |
OMIM:619487 |
| Cerebrofacioarticular Syndrome |
|
Self-injurious behavior, Hypospadias, Absence of pubertal development |
ORPHA:314679 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, ... |
OMIM:151660 |
| Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Cryptorchidism, Micropenis, Hypoplastic labia majora,... |
ORPHA:97360 |
| Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... |
ORPHA:963 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Frequent temper tan... |
OMIM:619512 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:620075 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior |
OMIM:618914 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Cryptorchidism, Hypoplastic labia majora, Self-injurious behavior, Hypoplastic nippl... |
OMIM:122470 |
| Short Syndrome |
|
Ovarian cyst, Insulin-resistant diabetes mellitus |
OMIM:269880 |
| Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Self-injurious behavior |
OMIM:618707 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
| Kabuki Syndrome 1 |
|
Premature thelarche, Cryptorchidism, Congenital hypothyroidism, Anoperineal fistula, Micropenis |
OMIM:147920 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Hepatosplenomegaly |
ORPHA:397612 |
| Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
| 17Q11 Microdeletion Syndrome |
|
Precocious puberty, Glomus jugular tumor, Elevated circulating parathyroid hormone level, Pheochr... |
ORPHA:97685 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Norrie Disease |
|
Diabetes mellitus, Cryptorchidism, Self-injurious behavior, Erectile dysfunction, Uterine rupture... |
ORPHA:649 |
| Autoerythrocyte Sensitization Syndrome |
|
Self-injurious behavior, Obsessive-compulsive trait, Menorrhagia |
ORPHA:324636 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Self-injurious behavior, Aggressive behavior |
OMIM:619833 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Cryptorchidism, Self-injurious behavior, Microphallus, Abnormal repetitive mannerisms |
ORPHA:468631 |
| Distal Deletion 12Q |
|
Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young... |
ORPHA:96149 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian cyst, Pancreatic adenocarcinoma, Endometrial carcinoma |
ORPHA:454840 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Self-injurious behavior |
OMIM:618828 |
| White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Tics, Abnormal repetitive mannerisms... |
OMIM:616364 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Tongue thrusting, Self-injurious behavior, Stereotypical body rocking, Hypoplastic... |
ORPHA:261323 |
| 3-Methylglutaconic Aciduria, Type I |
|
Self-mutilation |
OMIM:250950 |
| Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus |
OMIM:601186 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
| Fryns Syndrome |
|
Cryptorchidism, Bicornuate uterus, Hypospadias |
ORPHA:2059 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
| Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
| Classic Phenylketonuria |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
ORPHA:79254 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormal repetitive mannerisms, Polyphagia, Sel... |
ORPHA:1606 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pancreatic endocrine tumor, Pituitary adenoma, R... |
ORPHA:805 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Self-injurious behavior |
ORPHA:371364 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Recurrent hand flapping |
OMIM:617101 |
| Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
| Sponastrime Dysplasia |
|
Precocious puberty, Hypothyroidism, Hypospadias |
ORPHA:93357 |
| Aspartylglucosaminuria |
|
Macroorchidism, Hepatomegaly, Splenomegaly |
ORPHA:93 |
| Adenylosuccinase Deficiency |
|
Hyperactivity, Self-mutilation, Inappropriate laughter, Aggressive behavior |
OMIM:103050 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Pagod Syndrome |
|
Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal morphology of female internal... |
ORPHA:991 |
| Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Diabetes insipidus, Splenomegaly, Hypothyroidism, Self-mutilation |
OMIM:225750 |
| Infantile Systemic Hyalinosis |
|
Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries |
ORPHA:2176 |
| Hyperparathyroidism, Transient Neonatal |
|
Ovarian cyst, Hyperparathyroidism, Enlarged kidney |
OMIM:618188 |
| Microsporidiosis |
|
Anorexia, Abnormality of the parathyroid gland, Thyroiditis, Abnormal endometrium morphology, Abn... |
ORPHA:2552 |
| Aspartylglucosaminuria |
|
Macroorchidism, Hepatomegaly |
OMIM:208400 |
| Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome |
|
Self-injurious behavior, Abnormal temper tantrums, Aggressive behavior |
ORPHA:404473 |
| 17Q12 Microduplication Syndrome |
|
Self-injurious behavior |
ORPHA:261272 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... |
ORPHA:353281 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Restlessness, Self-biting |
OMIM:614388 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Irregular menstruation, Thyroiditis, Polycystic ovaries, Menorrhagia, Delayed puber... |
ORPHA:79259 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Cryptorchidism, Abnormal repetitive mannerisms, Abnormal circulating calcium... |
ORPHA:534 |
| Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Uterus didelphys |
ORPHA:958 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Self-injurious behavior, Attention deficit hype... |
ORPHA:818 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Aggressive behavior, Cryptorchidism, Self-injurious b... |
OMIM:619841 |
| Lesch-Nyhan Phenotype With Normal Hgprt |
|
Self-mutilation |
OMIM:308950 |
| Fanconi Anemia |
|
Hypospadias, Abnormal testis morphology, Abnormal preputium morphology, Cryptorchidism, Azoosperm... |
ORPHA:84 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus |
OMIM:222448 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Supernumerary nipple, Attention deficit hy... |
OMIM:213980 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Aplasia of the uterus,... |
OMIM:618280 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Harlequin Ichthyosis |
|
Self-injurious behavior |
ORPHA:457 |
| Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... |
OMIM:263650 |
| Primrose Syndrome |
|
Restlessness, Diabetes mellitus, Hypergonadotropic hypogonadism, Aggressive behavior, Bilateral c... |
OMIM:259050 |
| Meacham Syndrome |
|
Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Enlarged kidney |
OMIM:608978 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
| Microhydranencephaly |
|
Self-mutilation |
OMIM:605013 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy |
OMIM:300707 |
| Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Self-mutilation |
ORPHA:314621 |
| Temtamy Syndrome |
|
Self-mutilation |
OMIM:218340 |
| White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet... |
ORPHA:468678 |
| 1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Shyness, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequent temper ... |
OMIM:619575 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Imperforate hymen, Bic... |
OMIM:181450 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Self-mutilation |
ORPHA:453510 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus, Attention deficit hyperactivity disorder |
OMIM:614083 |
| Coffin-Lowry Syndrome |
|
Self-injurious behavior |
ORPHA:192 |
| Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the ovary, Bicornuate uterus, Hypoplastic nipples, Enlarged kidney |
ORPHA:79328 |
| Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... |
ORPHA:2052 |
| Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
| Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Uterus didelphys, Absent nipple, Bicornuate uterus |
OMIM:200980 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc... |
ORPHA:353277 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:457351 |
| Pettigrew Syndrome |
|
Self-injurious behavior, Stereotypical hand wringing, Aggressive behavior |
OMIM:304340 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
| Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl s... |
OMIM:229850 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia |
ORPHA:140952 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep... |
ORPHA:476126 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Aggressive behavior |
OMIM:212066 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Hypospadias, Aggressive behavior, Cryptorchidism, Polyphagia, Congen... |
OMIM:607872 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... |
OMIM:269150 |
| Fraser Syndrome 1 |
|
Hypospadias, Cryptorchidism, Abnormal thymus morphology, Bicornuate uterus, Micropenis, Vaginal a... |
OMIM:219000 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina |
OMIM:617925 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Anhidrosis, Hyperactivity, Self-mutilation |
OMIM:256800 |
| Digeorge Syndrome |
|
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Splenomegaly, Parathyroid ... |
OMIM:188400 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Self-mutilation |
ORPHA:52503 |
| Currarino Syndrome |
|
Bicornuate uterus, Rectovaginal fistula, Septate vagina |
OMIM:176450 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
| 15Q11.2 Microdeletion Syndrome |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
ORPHA:261183 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Ovarian cyst, Hypothalamic hamartoma |
OMIM:311200 |
| Pachydermoperiostosis |
|
Splenomegaly, Hepatomegaly, Elevated circulating growth hormone concentration, Hyperhidrosis |
ORPHA:2796 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus |
OMIM:236680 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Aggressive behavior |
ORPHA:466950 |
| Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
| Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Xerostomia, Bicornuate uterus, Dysphagia, Abnormal salivary gland morphology, Lac... |
ORPHA:2363 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Aggressive behavior |
ORPHA:466943 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Polycystic ovaries |
ORPHA:137675 |
| Joubert Syndrome 1 |
|
Hyperactivity, Self-mutilation, Aggressive behavior |
OMIM:213300 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Ambiguous genitalia |
ORPHA:93271 |
| Coffin-Siris Syndrome 1 |
|
Hypospadias, Aggressive behavior, Cryptorchidism, Compulsive behaviors, Aplasia of the uterus, Cl... |
OMIM:135900 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting |
ORPHA:522077 |
| Peters Plus Syndrome |
|
Hypospadias, Cryptorchidism, Congenital hypothyroidism, Hypoplasia of the uterus, Clitoral hypopl... |
ORPHA:709 |
| Distal Deletion 6P |
|
Self-injurious behavior |
ORPHA:96125 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Aplasia of the uterus, Hepatosplenomegaly |
OMIM:274000 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Impulsivity, Cryptorchidism, Dysphagia, He... |
OMIM:619503 |
| Ramos-Arroyo Syndrome |
|
Xerostomia, Self-mutilation |
ORPHA:1051 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Acrofacial Dysostosis 1, Nager Type |
|
Bicornuate uterus |
OMIM:154400 |
| Okamoto Syndrome |
|
Splenomegaly, Bifid uterus |
ORPHA:2729 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Anhidrosis, Hyperactivity, Impulsivity, Hyperhidrosis, Aplasia of the sweat glands, ... |
ORPHA:642 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Self-mutilation |
ORPHA:79233 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Bicornuate uterus, Hypospadias, Right ventricular hypertrophy |
OMIM:265380 |
| Alzahrani-Kuwahara Syndrome |
|
Hypospadias, Self-mutilation |
OMIM:619268 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut... |
OMIM:261540 |
| Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Elevated circul... |
ORPHA:79318 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Bicornuate uterus, Clitoral hyper... |
OMIM:268300 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse |
ORPHA:286 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:612474 |
| Microphthalmia, Syndromic 1 |
|
Cryptorchidism, Hypospadias, Self-mutilation, Aggressive behavior |
OMIM:309800 |
| Pallister-Killian Syndrome |
|
Anhidrosis, Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Hypohidrosis, Hypop... |
OMIM:601803 |
| Peeling Skin Syndrome 3 |
|
Abnormal hair morphology |
OMIM:616265 |
