| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia |
ORPHA:397685 |
| Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
| Gilles De La Tourette Syndrome |
|
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... |
OMIM:137580 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea |
OMIM:613546 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Rudiger Syndrome |
|
Micropenis, Bicornuate uterus, Ovarian cyst |
OMIM:268650 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... |
ORPHA:280356 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... |
OMIM:619834 |
| Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... |
OMIM:617442 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
| Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
| Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries |
OMIM:608709 |
| Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries |
ORPHA:79084 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti... |
ORPHA:3085 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... |
OMIM:615723 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... |
ORPHA:90301 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
| Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration |
OMIM:615555 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:618841 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
| Estrogen Resistance |
|
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... |
OMIM:615363 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Aplasi... |
OMIM:277000 |
| Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycy... |
OMIM:268020 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:79085 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea |
OMIM:300604 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... |
ORPHA:90796 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
| Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
| Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level |
OMIM:619009 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... |
OMIM:194072 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... |
OMIM:604367 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... |
OMIM:615300 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:435651 |
| Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Type II diabetes mellitus, Polycystic ovaries, Delayed puberty,... |
ORPHA:100 |
| Distal Deletion 10P |
|
Hypoplasia of penis, Cryptorchidism, Polycystic ovaries |
ORPHA:1580 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty, Premature adrenarche, Clitoral hypertrophy, Long penis, Irregular menstruatio... |
ORPHA:90795 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... |
ORPHA:432 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... |
ORPHA:243 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... |
ORPHA:435660 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Premature Ovarian Failure 22 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... |
OMIM:620548 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Frasier Syndrome |
|
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... |
ORPHA:347 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... |
ORPHA:3130 |
| Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hyperinsul... |
ORPHA:528 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... |
ORPHA:64739 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Dysmenorrhea, Polycystic ovaries, Oligomenorrhea, Maternal d... |
ORPHA:79083 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Polycystic ovaries |
OMIM:616831 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
| Donohue Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic ... |
OMIM:246200 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Micropenis |
ORPHA:335 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Gonadal dysgenesis, Polycystic ovaries |
ORPHA:1770 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Preeclampsia |
|
Type I diabetes mellitus, Polycystic ovaries |
ORPHA:275555 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Dysmenorrhea, Secondary amenorrhea, Diabetes mellitus, Polycystic ovaries |
ORPHA:2348 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... |
ORPHA:785 |
| Cowden Syndrome 6 |
|
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes... |
OMIM:615109 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
| Cowden Syndrome 5 |
|
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... |
OMIM:615108 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Aromatase Deficiency |
|
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... |
ORPHA:91 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... |
ORPHA:562 |
| Cowden Syndrome 1 |
|
Varicocele, Thyroid adenoma, Goiter, Ovarian carcinoma, Ovarian cyst, Hypothyroidism, Hyperthyroi... |
OMIM:158350 |
| Premature Ovarian Failure 20 |
|
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... |
OMIM:619938 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst |
ORPHA:454840 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... |
ORPHA:2232 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
ORPHA:572333 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| Cystic Echinococcosis |
|
Abnormality of the testis size, Hepatic cysts, Ovarian cyst, Renal cyst, Eosinophilia |
ORPHA:400 |
| Glycine Encephalopathy 1 |
|
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity |
OMIM:605899 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors |
OMIM:301107 |
| Peutz-Jeghers Syndrome |
|
Uterine neoplasm, Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor |
OMIM:175200 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Oligomenorrhea, Dysmenorrhea, Polycystic ovaries |
ORPHA:79240 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Short Syndrome |
|
Ovarian cyst, Insulin-resistant diabetes mellitus |
OMIM:269880 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Type I diabetes mellitus, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
| Morm Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:75858 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... |
ORPHA:95699 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries |
ORPHA:2969 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Dysmenorrhea, Polycystic ovaries, Oligomenorrhea, Delayed puberty |
ORPHA:264580 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... |
ORPHA:247768 |
| Infantile Systemic Hyalinosis |
|
Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries |
ORPHA:2176 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... |
OMIM:312300 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Female infertility, Premature ovarian insufficiency |
OMIM:619518 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... |
OMIM:110100 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Polycystic ovaries |
ORPHA:79086 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased adiponectin level, Dysmenorrhea, Polycystic ovaries, Diabetes mellitus, Secondary ameno... |
ORPHA:280365 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... |
ORPHA:249 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Hydrocele testis |
ORPHA:276280 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Polycystic ovaries, Decreased fertili... |
OMIM:608594 |
| Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Ovarian cyst |
OMIM:618188 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... |
ORPHA:2298 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Decreased fertility, Type II diabetes... |
OMIM:269700 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... |
ORPHA:3464 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Pancreatic adenocarcinoma, Cervix cancer, Multiple renal cysts |
ORPHA:2869 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... |
OMIM:151660 |
| Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the... |
OMIM:614527 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... |
OMIM:201750 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation |
OMIM:615516 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Polycystic kidney dysplasia, Hepatic cysts, Ovarian cyst |
OMIM:311200 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Neonatal hypogl... |
OMIM:617600 |
| Bardet-Biedl Syndrome |
|
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... |
ORPHA:110 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Irregular menstruation, Menorrhagia, Polycystic ovaries, Hypothyroidism, Delayed puberty, Thyroid... |
ORPHA:79259 |
| Histiocytoid Cardiomyopathy |
|
Renal cyst, Polycystic ovaries |
ORPHA:137675 |
| Leopard Syndrome 1 |
|
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... |
OMIM:151100 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... |
OMIM:618820 |
| Rabson-Mendenhall Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... |
ORPHA:769 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Aggressive behavior, ... |
ORPHA:449291 |
| Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Ovarian cyst, Parathyroid agenesis, Hypoplasia of the thy... |
OMIM:188400 |
| Cowden Syndrome |
|
Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the uterus, Goiter, Endom... |
ORPHA:201 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:85327 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Micropenis, Decreased testicular size, Hypoplasia of the ovary |
OMIM:619321 |
| Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Male infertility |
ORPHA:244 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Nephrogenic diabetes insipidus... |
OMIM:209900 |
| Alg9-Cdg |
|
Hypoplastic nipples, Bicornuate uterus, Hepatic cysts, Hypoplasia of the ovary |
ORPHA:79328 |
| Opitz Gbbb Syndrome |
|
Thyroglossal cyst, Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate ute... |
ORPHA:2745 |
| Williams Syndrome |
|
Precocious puberty, Cholelithiasis, Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries... |
ORPHA:904 |
| Leprechaunism |
|
Clitoral hypertrophy, Long penis, Central hypothyroidism, Overgrowth of external genitalia, Hyper... |
ORPHA:508 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... |
ORPHA:99413 |
| Turner Syndrome |
|
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... |
ORPHA:99228 |
| Monosomy X |
|
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... |
ORPHA:99226 |
| Limb-Mammary Syndrome |
|
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... |
ORPHA:69085 |
| Alström Syndrome |
|
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Elevated circulating ... |
ORPHA:64 |
| Schinzel-Giedion Syndrome |
|
Annular pancreas, Central hypothyroidism, Streak ovary, Renal cyst, Micropenis, Hypospadias |
ORPHA:798 |
| Proteus Syndrome |
|
Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic o... |
ORPHA:744 |
