46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... |
OMIM:273250 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... |
OMIM:612964 |
Premature Ovarian Failure 17 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... |
OMIM:619146 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... |
OMIM:619203 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... |
OMIM:618723 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Streak ovary, Fema... |
OMIM:612310 |
Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... |
ORPHA:99429 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... |
OMIM:400044 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Androgen Insensitivity Syndrome |
|
Elevated circulating follicle stimulating hormone level, Labial hypoplasia, Female external genit... |
OMIM:300068 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:240950 |
Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... |
ORPHA:91349 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... |
ORPHA:90796 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Increased circulating androgen concentration, Adrenal overactivity, Amenorrhea, Premature pubarche |
OMIM:145295 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Increased serum testosterone level, Increased circulating androste... |
ORPHA:90795 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... |
ORPHA:314478 |
Polyembryoma |
|
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormality of the... |
ORPHA:180229 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... |
OMIM:612965 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... |
ORPHA:90791 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
Ovarian Dysgenesis 1 |
|
Primary amenorrhea, Gonadal dysgenesis, Increased circulating gonadotropin level |
OMIM:233300 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Ovarian Dysgenesis 8 |
|
Hypoplastic labia majora, Elevated circulating luteinizing hormone level, Primary amenorrhea, Ele... |
OMIM:618187 |
Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... |
ORPHA:8 |
Polycystic Ovary Syndrome 1 |
|
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Hydatidiform Mole |
|
Hyperthyroidism, Spontaneous abortion, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Precocious Puberty, Central, 1 |
|
Hypothyroidism, Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Ele... |
OMIM:176400 |
X-Linked Intellectual Disability, Van Esch Type |
|
Type II diabetes mellitus, Impaired social interactions, Absence of secondary sex characteristics... |
ORPHA:163976 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... |
OMIM:615723 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... |
ORPHA:247768 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Oligomenorrhea, Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency... |
ORPHA:91354 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... |
OMIM:614841 |
Pituicytoma |
|
Increased circulating prolactin concentration, Amenorrhea, Hypogonadotropic hypogonadism, Pituita... |
ORPHA:251623 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... |
OMIM:300510 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Increased circulat... |
ORPHA:2410 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
Estrogen Resistance Syndrome |
|
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... |
ORPHA:785 |
Familial Hyperprolactinemia |
|
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism |
ORPHA:397685 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypospadias, Shyness, Absence of secondary sex characteristics, Increased circulating gonadotropi... |
ORPHA:163971 |
Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle... |
OMIM:618014 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating progesterone, Aplasia of the uterus, Increased serum testosterone level, Fu... |
ORPHA:90794 |
Mccune-Albright Syndrome |
|
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... |
ORPHA:562 |
Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... |
ORPHA:289548 |
Ovarian Dysgenesis 7 |
|
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus |
OMIM:618117 |
46,Xx Gonadal Dysgenesis |
|
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Delayed puberty, Decreased ... |
ORPHA:243 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Increased circulating gonadotropin level, Micropenis, Ambiguous geni... |
ORPHA:261534 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... |
OMIM:202010 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Perrault Syndrome 4 |
|
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... |
OMIM:615300 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... |
OMIM:614840 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... |
OMIM:618841 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Spontaneous abortion, Clitoral hypertrophy, Congenital adrena... |
ORPHA:96181 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Increased circulating gonadotropin level, Hypogonadism, Cryptorchidism, Decreased testicular size... |
OMIM:300869 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Pituitary Gigantism |
|
Type II diabetes mellitus, Increased serum insulin-like growth factor 1, Amenorrhea, Pituitary gr... |
ORPHA:99725 |
46,Xx Sex Reversal 5 |
|
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly |
OMIM:618901 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... |
ORPHA:347 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Secondary amenorrhea, Premature pubarche |
OMIM:612847 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Shyness, Precocious puberty |
OMIM:300801 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... |
OMIM:146110 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypoplastic labia minora, Self-injurious behavior, Premature adrenarche, Decreased response to gr... |
ORPHA:98754 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Self-biting, Aggressive behavior, Hypogonadism, Cryptorchidism, Precocious puberty, Gonadal dysge... |
ORPHA:3306 |
Myotonic Dystrophy 2 |
|
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... |
OMIM:602668 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypoplastic labia minora, Self-injurious behavior, Premature adrenarche, Decreased response to gr... |
ORPHA:98793 |
Central Precocious Puberty |
|
Hypothalamic hamartoma, Isosexual precocious puberty, Premature thelarche, Increased circulating ... |
ORPHA:759 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea, Cerebral atrophy |
OMIM:212840 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... |
OMIM:300200 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth hormone conc... |
ORPHA:90301 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypoplastic labia minora, Self-injurious behavior, Premature adrenarche, Decreased response to gr... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypoplastic labia minora, Self-injurious behavior, Premature adrenarche, Decreased response to gr... |
ORPHA:177901 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Premature adrenarche, Micropenis, Infertility, Type II diabetes mellitu... |
ORPHA:398079 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Perrault Syndrome 1 |
|
Primary amenorrhea, Gonadal dysgenesis, Increased circulating gonadotropin level |
OMIM:233400 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... |
ORPHA:64739 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Polycystic ovaries, Neopla... |
ORPHA:457059 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
O'Donnell-Luria-Rodan Syndrome |
|
Skin-picking, Self-injurious behavior, Aggressive behavior, Abnormal corpus callosum morphology, ... |
OMIM:618512 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... |
ORPHA:572333 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty |
ORPHA:217377 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Anxiety, Hypogonadotropic hypogonadis... |
ORPHA:432 |
Perrault Syndrome 6 |
|
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... |
OMIM:617565 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Megalencephaly, Abnormal corpus callosum morphology, Abnormality of t... |
ORPHA:280195 |
Temple Syndrome |
|
Cryptorchidism, Type II diabetes mellitus, Precocious puberty, Decreased response to growth hormo... |
ORPHA:254516 |
Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility |
ORPHA:1643 |
Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Self-injurious behavior, Premature adrenarche, Decreased inhibin B leve... |
ORPHA:398073 |
Mental Retardation, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Aggressive behavior, Elevated circulating growth hormone concentration, Decreased... |
ORPHA:85327 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating follicle stimulating hormone level, Type I diabetes mellitus, Breast aplasia... |
ORPHA:3044 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Primary amenorrhea, Gonadal dysgenesis, Hypergonadotropic hypogonadism |
OMIM:607080 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Aggressive behavior, Precocious puberty, Hypoplasia of the corpus callosum, Cortical dysplasia, M... |
ORPHA:457260 |
49,Xyyyy Syndrome |
|
Azoospermia, External genital hypoplasia, Increased circulating gonadotropin level, Male hypogona... |
ORPHA:99330 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Premature Ovarian Failure 2B |
|
Primary amenorrhea, Delayed puberty, Premature ovarian insufficiency |
OMIM:300604 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Cryptorchidism, Irritability, Cerebral atrophy, Premature pubarche |
ORPHA:457205 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Hypogonadism, Emotional lability, Irritability, Decreased testicular ... |
OMIM:201100 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... |
ORPHA:1501 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:305400 |
Hyperprolactinemia |
|
Menorrhagia, Infertility, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe... |
ORPHA:91 |
Cortisone Reductase Deficiency 2 |
|
Premature pubarche |
OMIM:614662 |
Mental Retardation, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, ... |
ORPHA:280356 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... |
ORPHA:1916 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Clit... |
ORPHA:528 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Primary amenorrhea, Microcephaly, Hypergonadotropic hypogonadism |
OMIM:614129 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Hyperintensity of cerebral white matter on MRI, Cerebral cortical atrophy, Premature ovarian insu... |
ORPHA:101006 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619613 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Impaired social interactions, Precocious puberty, Poor eye ... |
ORPHA:254531 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary sex characteris... |
ORPHA:2232 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cor... |
ORPHA:786 |
Ovarian Dysgenesis 5 |
|
Primary amenorrhea, Hypoplasia of the uterus |
OMIM:617690 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Dysmenorrhea, Uterus didelphys, Metrorrhagia, Dyspareunia, Partial vaginal septum, A... |
ORPHA:3411 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Testicular Agenesis |
|
Vanishing testis, Decreased serum testosterone concentration, Urethrovaginal fistula, Abnormal va... |
ORPHA:325124 |
Prader-Willi Syndrome |
|
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Diabetes mellitus, Inf... |
ORPHA:739 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... |
ORPHA:95699 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Cryptorchidism, Precocious puberty, Congenital hypothyroidism |
OMIM:614736 |
Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypot... |
ORPHA:95619 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Pituitary adenoma, Hyperthyroidism, Hyperparathyroidism, El... |
OMIM:174800 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Macroorchidism, Aggressive behavior, Irritability, Abnorm... |
ORPHA:3077 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
Estrogen Resistance |
|
Primary amenorrhea, Hyperinsulinemia, Hypoplasia of the uterus |
OMIM:615363 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadi... |
ORPHA:3085 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Central hypothyroidism, Skin-picking, Infertility, Type II diabetes mel... |
ORPHA:398069 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Long penis, Insulin-resistant diabetes mellitus, Enlarged ova... |
ORPHA:769 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Anxiety, Amenorrhea, Cerebral cortical atrophy, Premature ovarian insufficiency |
OMIM:619425 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Long penis, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, Clitoral hypertrophy, Pre... |
OMIM:262190 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
Prader-Willi Syndrome |
|
Hypoplastic labia minora, Adrenal insufficiency, Infertility, Type II diabetes mellitus, Oligomen... |
OMIM:176270 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Aggressive behavior, Hypoplasia of the corpus callosum, Precocious puberty, Microcephaly |
OMIM:300958 |
Keratoderma Hereditarium Mutilans |
|
Self-injurious behavior, Hypogonadotropic hypogonadism |
ORPHA:494 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating aldosterone level, Testicular adrenal rest tumor, Adrenal insufficiency, Co... |
ORPHA:361 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty, Head-banging, Microcephaly |
OMIM:619356 |
Leukoencephalopathy With Vanishing White Matter |
|
Secondary amenorrhea, Leukoencephalopathy, Emotional lability, Primary amenorrhea, Decreased circ... |
OMIM:603896 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Premature ovarian insufficiency |
ORPHA:75325 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Fragile X Syndrome |
|
Self-injurious behavior, Macroorchidism, Anxiety, Cerebral cortical atrophy |
ORPHA:908 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Microcephaly, Cryptorchidism, Precocious puberty, Supernumerary nipple |
OMIM:619243 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... |
ORPHA:453533 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism, Poor eye contact |
OMIM:300624 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... |
OMIM:110100 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty |
ORPHA:254525 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Increased serum testosterone level, Type II diabetes mellitus... |
ORPHA:2298 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614880 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism, Microcephaly |
ORPHA:139474 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Micropenis, Primary amenorrhea, Decreased serum leptin, Decreased testicular size |
OMIM:614962 |
Donohue Syndrome |
|
Long penis, Clitoral hypertrophy, Pancreatic islet-cell hyperplasia, Precocious puberty, Hyperins... |
OMIM:246200 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:616030 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... |
OMIM:611548 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary growth hormone ce... |
OMIM:102200 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Hepatomegaly, Aggressive behavior, Self-mutilation, Poor eye contact, Low frustrati... |
ORPHA:163681 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... |
ORPHA:157954 |
Prolactinoma |
|
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... |
ORPHA:2965 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Emotional lability, Macroorchidism, Male hypogonadism, Microcephaly |
OMIM:300055 |
Peripheral Primitive Neuroectodermal Tumor |
|
Ovarian neoplasm, Neoplasm of the pancreas, Pancreatitis, Metrorrhagia, Precocious puberty, Uteri... |
ORPHA:370348 |
Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Aggressive behavior, Pituitary hypothyroidism, Diabetes mellitu... |
OMIM:614963 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Self-injurious behavior, Irritability, Cerebral atrophy, Precocious pu... |
ORPHA:447980 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Anxiety, Polycystic ovaries, Microcephaly |
ORPHA:284180 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Shyness, Self-injurious behavior, Aggressive behavior, Micropenis, Anxiety, Cryptorc... |
OMIM:300978 |
Ollier Disease |
|
Precocious puberty |
ORPHA:296 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... |
ORPHA:2795 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Silver-Russell Syndrome |
|
Hypospadias, Abnormal vagina morphology, Premature adrenarche, Precocious puberty, Abnormality of... |
ORPHA:813 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased circulating c... |
ORPHA:95512 |
Optic Pathway Glioma |
|
Precocious puberty |
ORPHA:2086 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... |
ORPHA:95513 |
9P13 Microdeletion Syndrome |
|
External genital hypoplasia, Precocious puberty |
ORPHA:324313 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Amenorrhea, Abnormality of the e... |
OMIM:158330 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... |
ORPHA:3464 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Endometrial carcinoma,... |
ORPHA:90790 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Cryptorchidism, Precocious puberty |
ORPHA:96184 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... |
ORPHA:3130 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Hypoplasia of the ovary, Abse... |
ORPHA:2235 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Hypoplasia of the corpus callosum, Poor eye contact, Cerebral cortical a... |
OMIM:617820 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Self-injurious behavior, Hypothyroidism, Cryptorchidism, Hypoplasia of the corpus ca... |
ORPHA:254346 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Diabetes mellitus, Primary amenorrhea, Cryptorchidism,... |
OMIM:610628 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased ... |
ORPHA:79085 |
Rudiger Syndrome |
|
Bicornuate uterus, Micropenis, Ovarian cyst |
OMIM:268650 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Secondary amenorrhea, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Polycy... |
OMIM:268020 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... |
ORPHA:752 |
Tsh-Secreting Pituitary Adenoma |
|
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... |
ORPHA:91347 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... |
OMIM:241080 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Secondary amenorrhea, Goiter, Premature ovarian insufficiency |
OMIM:617175 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Polycystic ovaries, Pancreatitis, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Carney Complex |
|
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... |
ORPHA:1359 |
Choreoacanthocytosis |
|
Hepatomegaly, Hair-pulling, Caudate atrophy, Self-injurious behavior, Aggressive behavior, Self-m... |
ORPHA:2388 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Brunner Syndrome |
|
Self-injurious behavior, Aggressive behavior, Low frustration tolerance |
OMIM:300615 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced circulating prol... |
OMIM:262600 |
Hyperostosis Frontalis Interna |
|
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration |
OMIM:144800 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Small pituitary gland, Micropenis, Primary amenorrhea, Cryptorchidism |
OMIM:612702 |
Seckel Syndrome 7 |
|
Central hypothyroidism, Primary amenorrhea, Microcephaly, Hypoplasia of the uterus |
OMIM:614851 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callosu... |
OMIM:615282 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Prima... |
OMIM:604367 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... |
ORPHA:1227 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Progressive microcephaly, Impaired social interactions |
ORPHA:397933 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatit... |
ORPHA:435651 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hypospadias, Adrenal hyperplasia, Bifid scrotum, Absent scrotum, Micropenis, Ambiguous genitalia,... |
OMIM:201810 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Microcephaly, Periventricular leukomalacia, Abnorma... |
ORPHA:485350 |
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Elevated circulating luteinizing hormone level, Agenesis of corpus callosum, Elevated circulating... |
OMIM:618419 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Apathy,... |
ORPHA:465508 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia |
ORPHA:2578 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Self-mutilation, Micropenis, Anxiety, Decreased response to growth hormone stimulation test, Decr... |
ORPHA:457240 |
Luscan-Lumish Syndrome |
|
Shyness, Aggressive behavior, Polycystic ovaries, Anxiety, Irregular menstruation |
OMIM:616831 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Cryptorchidism, Progressive microcephaly, Cerebral atrophy |
OMIM:618917 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:776 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Self-mutilation |
OMIM:137580 |
Slc35A2-Cdg |
|
Cerebral white matter atrophy, Cortical dysplasia, Abnormal cerebral white matter morphology, Ele... |
ORPHA:356961 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Self-injurious behavior, Secondary microcephaly |
OMIM:618339 |
Radio-Tartaglia Syndrome |
|
Aggressive behavior, Poor eye contact, Precocious puberty, Agenesis of corpus callosum, Microcephaly |
OMIM:619312 |
Developmental And Epileptic Encephalopathy 31 |
|
Self-injurious behavior, Cerebral atrophy |
OMIM:616346 |
Leprechaunism |
|
Central hypothyroidism, Hepatomegaly, Long penis, Enlarged ovaries, Labial hypertrophy, Clitoral ... |
ORPHA:508 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased ... |
ORPHA:435660 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety |
OMIM:164230 |
Smith-Magenis Syndrome |
|
Self-injurious behavior, Aplasia/Hypoplasia of the corpus callosum, Hypothyroidism, Anxiety, Prec... |
ORPHA:819 |
Opitz Gbbb Syndrome |
|
Hypospadias, Bifid scrotum, Enlarged ovaries, Abnormal corpus callosum morphology, Bicornuate ute... |
ORPHA:2745 |
Angelman Syndrome |
|
Precocious puberty in females, Happy demeanor, Self-injurious behavior, Aggressive behavior, Poor... |
ORPHA:72 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
Kleefstra Syndrome Due To A Point Mutation |
|
Self-injurious behavior, Abnormal cerebral white matter morphology, Hypoplasia of the corpus call... |
ORPHA:261652 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Osteoporosis-Pseudoglioma Syndrome |
|
Isosexual precocious puberty |
ORPHA:2788 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior |
OMIM:619031 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries, Diabetes mellitus |
OMIM:608709 |
Vaginal Atresia |
|
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... |
ORPHA:65681 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior |
OMIM:617270 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Primary microcephaly, Irritability, Secondary microcephaly, Hypoplasia of the corpu... |
ORPHA:447997 |
Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty |
OMIM:301032 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-stimulati... |
ORPHA:90674 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Cervix cancer, Enlarged polycystic ovaries |
ORPHA:2869 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... |
ORPHA:91351 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Self-mutilation, External genital hypoplasia, Hypogonadism, Micropenis, Decreased testicular size |
ORPHA:3041 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Self-injurious behavior, Aggressive behavior |
OMIM:300699 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Microcephaly, Hypoplasia of penis, Uterus didelphys, Hypothyroidism |
ORPHA:2491 |
Myhre Syndrome |
|
Hypospadias, Abnormal penis morphology, External genital hypoplasia, Hypogonadism, Cryptorchidism... |
ORPHA:2588 |
Pituitary Stalk Interruption Syndrome |
|
Diabetes insipidus, Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Adrena... |
ORPHA:95496 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Fibrous Dysplasia Of Bone |
|
Hyperpituitarism, Precocious puberty in females, Thyroid carcinoma, Increased circulating cortiso... |
ORPHA:249 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Anxiety, Aggressive behavior |
OMIM:613670 |
Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Oligomenorrhea, Hypergonadotropic hypogonadism, In... |
ORPHA:95613 |
Alg6-Cdg |
|
Increased circulating androgen concentration, Puberty and gonadal disorders |
ORPHA:79320 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly |
OMIM:602390 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia, Primary amenorrhea, Male pseudo... |
OMIM:202110 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hypospadias, Insulin-resistant diabetes mellitus, Neoplasm of the pancreas, Decreased serum estra... |
ORPHA:2959 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Self-injurious behavior, Polymicrogyria, Cerebral atrophy, Hypoplasia of the corpus callosum, Mic... |
OMIM:614254 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Cryptorchidism, Hypoplasia of penis, Microcephaly |
ORPHA:228402 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea |
OMIM:264270 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Decreased serum estradiol, Primary... |
OMIM:604168 |
Kallmann Syndrome |
|
Abnormal morphology of female internal genitalia, Hypogonadotropic hypogonadism, Erectile dysfunc... |
ORPHA:478 |
Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Primary amenorrhea, Bicornuate uterus |
OMIM:191830 |
Pallister-Hall Syndrome |
|
Hypothalamic hamartoma, Decreased response to growth hormone stimulation test, Precocious puberty... |
OMIM:146510 |
Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Aggressive behavior |
OMIM:618362 |
Pparg-Related Familial Partial Lipodystrophy |
|
Secondary amenorrhea, Hepatomegaly, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Insulin-resi... |
ORPHA:79083 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Hypospadias, Precocious puberty |
OMIM:615877 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Premature adrenarche, Decreased response to growth hormone stimulation test, Hyperhi... |
ORPHA:96182 |
Frasier Syndrome |
|
Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis |
OMIM:136680 |
Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
Gangliocytoma |
|
Abnormal prolactin level, Amenorrhea, Decreased female libido, Abnormality of the pituitary gland... |
ORPHA:251937 |
Smith-Magenis syndrome |
|
Self-mutilation |
DECIPHER:8 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Cerebral atrophy, Cryptor... |
OMIM:201000 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia |
OMIM:601076 |
Developmental And Epileptic Encephalopathy 59 |
|
Self-injurious behavior |
OMIM:617904 |
Bainbridge-Ropers Syndrome |
|
Self-injurious behavior, Dilation of lateral ventricles, Cryptorchidism, Hypoplasia of the corpus... |
OMIM:615485 |
Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
N-Acetylaspartate Deficiency |
|
Self-mutilation, Microcephaly |
OMIM:614063 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614839 |
Monosomy 22Q13.3 |
|
Hair-pulling, Agenesis of corpus callosum, Hypohidrosis |
ORPHA:48652 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Polycystic ovaries, Premature thelarche, Type I diabetes mellitus |
ORPHA:371428 |
8P Inverted Duplication/Deletion Syndrome |
|
Aplasia/Hypoplasia of the gallbladder, Micropenis, Cryptorchidism, Precocious puberty, Agenesis o... |
ORPHA:96092 |
Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Polycystic ovaries, Abnormal testis morphology, Diabetes mellitus, Apl... |
ORPHA:100 |
Alexander Disease |
|
Megalencephaly, Self-injurious behavior, Emotional lability, Diabetes mellitus, Hyperhidrosis, Ce... |
ORPHA:58 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Hypoparathyroidism, Uterus didelphys, Septate vagina, Primary amenorrhea, ... |
OMIM:146255 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Microcephaly, Hypoplasia of the corpus callosum, Precocious puberty, Abnormality of female extern... |
ORPHA:2637 |
Non-Acquired Panhypopituitarism |
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Abnormal prolactin level, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Pituitary hypot... |
ORPHA:90695 |
Pituitary Carcinoma |
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Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Pitu... |
ORPHA:300385 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
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Hypospadias, Self-injurious behavior, Cryptorchidism, Microcephaly |
ORPHA:435938 |
16P13.2 Microdeletion Syndrome |
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Dilated third ventricle, Skin-picking, Cerebral white matter atrophy, Aggressive behavior, Hypogo... |
ORPHA:500055 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
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Self-injurious behavior, Micropenis, Hypointensity of cerebral white matter on MRI, Aggressive be... |
OMIM:300860 |
Seckel Syndrome 10 |
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Elevated circulating follicle stimulating hormone level, Acute pancreatitis, Diabetes mellitus, E... |
OMIM:617253 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
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Self-injurious behavior, Hypoplasia of the corpus callosum |
OMIM:618760 |
Lig4 Syndrome |
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Amenorrhea, Micropenis, Hypothyroidism, Cryptorchidism, Microcephaly |
OMIM:606593 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... |
ORPHA:2348 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
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Partial vaginal septum, Uterus didelphys, Hematocolpos |
OMIM:192050 |
Meningioma |
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Enlarged pituitary gland, Amenorrhea, Decreased circulating cortisol level, Hypothalamic hypothyr... |
ORPHA:2495 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Hemimegalencephaly, Precocious puberty |
OMIM:163200 |
Acromesomelic Dysplasia 3 |
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Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:609441 |
16P12.1P12.3 Triplication Syndrome |
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Skin-picking, Bilateral cryptorchidism, Anxiety, Decreased response to growth hormone stimulation... |
ORPHA:485405 |
Preeclampsia |
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Polycystic ovaries, Type I diabetes mellitus |
ORPHA:275555 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Macroorchidism, Cardiomegaly |
ORPHA:324410 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Self-injurious behavior, Interhypothalamic Adhesion, Micropenis, Anxiety, Cryptorchidism, Agenesi... |
OMIM:618929 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
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Self-injurious behavior, Hyperhidrosis |
OMIM:615548 |
Distal Monosomy 10P |
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Cryptorchidism, Hypoplasia of penis, Microcephaly, Polycystic ovaries |
ORPHA:1580 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Adrenal hyperplasia, Secondary amenorrhea, Atypical pulmonary carcinoid tumor, Neoplasm of the th... |
ORPHA:99889 |
Baker-Gordon Syndrome |
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Self-injurious behavior |
OMIM:618218 |
Phenylketonuria |
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Aggressive behavior, Self-mutilation, Irritability, Cerebral calcification, Anxiety, Microcephaly |
OMIM:261600 |
Multiple Endocrine Neoplasia Type 4 |
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Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Androgen Insensitivity, Partial |
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Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Cardiomegaly, Labial hypertrophy, Cryptorchidism, Neonatal insulin-dependent diabet... |
ORPHA:96191 |
Pettigrew Syndrome |
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Self-injurious behavior, Cerebral calcification, Abnormality of the basal ganglia |
OMIM:304340 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Aggressive behavior, Irritability, Premature ovarian insufficiency, Abnormal cerebral white matte... |
ORPHA:391307 |
Wiedemann-Rautenstrauch Syndrome |
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Hypospadias, Increased serum testosterone level, Abnormal corpus striatum morphology, Type II dia... |
ORPHA:3455 |
Interstitial Cystitis |
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Abnormal vagina morphology, Abnormality of the menstrual cycle, Dyspareunia, Abnormal labia morph... |
ORPHA:37202 |
Mental Retardation, Autosomal Recessive 48 |
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Aggressive behavior, Self-mutilation |
OMIM:616269 |
Caudal Duplication |
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Cryptorchidism, Abnormal penis morphology, Uterus didelphys |
ORPHA:1756 |
Cri-Du-Chat Syndrome |
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Hypospadias, Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Overfriendlin... |
OMIM:123450 |
Smith-Lemli-Opitz Syndrome |
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Hypospadias, Hypoplasia of the frontal lobes, Bifid scrotum, Aggressive behavior, Self-mutilation... |
OMIM:270400 |
Wiedemann-Rautenstrauch Syndrome |
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Hypospadias, Increased serum testosterone level, Long penis, Cryptorchidism, Agenesis of corpus c... |
OMIM:264090 |
Primary Lipodystrophy |
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Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Pancreatitis, Splenomegaly |
ORPHA:90970 |
Caudal Duplication Anomaly |
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Uterus didelphys |
OMIM:607864 |
Richards-Rundle Syndrome |
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Hypogonadism, Aggressive behavior, Primary amenorrhea, Absence of secondary sex characteristics |
OMIM:245100 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Hyperthyroidism, Irritab... |
ORPHA:449291 |
Tuberous Sclerosis 1 |
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Hemimegalencephaly, Adenoma sebaceum, Cortical tubers, Hypothyroidism, Cerebral calcification, Pr... |
OMIM:191100 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Hypospadias, Chordee, Posterior pituitary hypoplasia, Decreased response to growth hormone stimul... |
ORPHA:268261 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Hypospadias, Macroorchidism, Polymicrogyria, Microcephaly |
OMIM:618874 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Premature thelarche, Hypothyroidism, Cerebral atrophy, Microcephaly, Premature pubarche |
OMIM:616878 |
Cowden Syndrome |
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Abnormal penis morphology, Goiter, Endometrial carcinoma, Adenoma sebaceum, Neoplasm of the thyro... |
ORPHA:201 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
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Rectovaginal fistula, Precocious puberty |
OMIM:608980 |
Pallister-Hall Syndrome |
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Hypospadias, Abnormal prolactin level, Arrhinencephaly, Thyroid hypoplasia, Micropenis, Adrenal h... |
ORPHA:672 |
Lesch-Nyhan Syndrome |
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Testicular atrophy, Self-injurious behavior |
OMIM:300322 |
Hymen, Imperforate |
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Hydrocolpos, Imperforate hymen, Amenorrhea, Hematocolpos |
OMIM:237100 |
Renal And Mullerian Duct Hypoplasia |
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Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Hypospadias, Type II diabetes mellitus, Precocious puberty, Microcephaly |
OMIM:210720 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
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Self-injurious behavior, Cerebral atrophy |
OMIM:617268 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
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Aggressive behavior, Self-mutilation, Poor eye contact, Micropenis, Cryptorchidism, Hypoplasia of... |
ORPHA:364028 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hypospadias, Pineal cyst, Abnormal social behavior, Decreased response to growth hormone stimulat... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Hypospadias, Pineal cyst, Abnormal social behavior, Decreased response to growth hormone stimulat... |
ORPHA:363958 |
Rere-Related Neurodevelopmental Syndrome |
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Hypospadias, Self-injurious behavior, Cryptorchidism, Hypoplasia of the corpus callosum |
ORPHA:494344 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
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Adrenal insufficiency, Sex reversal, Adrenocorticotropic hormone excess, Hyperaldosteronism |
OMIM:613743 |
Tay-Sachs Disease |
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Anxiety, Hypointensity of cerebral white matter on MRI, Precocious puberty, Abnormal thalamic MRI... |
ORPHA:845 |
Prune Belly Syndrome |
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Congenital posterior urethral valve, Urogenital sinus anomaly, Abnormality of the uterus, Cryptor... |
ORPHA:2970 |
Ovarian Fibroma |
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Abnormality of the ovary, Gonadal calcification, Ovarian fibroma |
ORPHA:314473 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus |
OMIM:618078 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Self-mutilation, Micropenis, Low frustration tolerance, Cryptorchidism, Microphallus |
OMIM:300486 |
Tuberous Sclerosis 2 |
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Hemimegalencephaly, Adenoma sebaceum, Cortical tubers, Hypothyroidism, Cerebral calcification, Pr... |
OMIM:613254 |
Teebi Hypertelorism Syndrome 1 |
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Bicornuate uterus, Anxiety, Shawl scrotum |
OMIM:145420 |
13Q12.3 Microdeletion Syndrome |
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Cryptorchidism, Self-mutilation |
ORPHA:412035 |
Hand-Foot-Genital Syndrome |
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Hypospadias, Spontaneous abortion, Abnormality of the uterus, Bicornuate uterus, Abnormality of t... |
ORPHA:2438 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hepatomegaly, Aggressive behavior, Cholelithiasis, Hepatosplenomegaly, Precocious puberty |
OMIM:301066 |
Early Infantile Epileptic Encephalopathy |
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Diffuse white matter abnormalities, Self-injurious behavior, Pachygyria, Micropenis, Diffuse cere... |
ORPHA:1934 |
Hypomelia With Mullerian Duct Anomalies |
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Longitudinal vaginal septum, Uterus didelphys |
OMIM:146160 |
Renal Hypodysplasia/Aplasia 3 |
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Abnormality of the uterus |
OMIM:617805 |
Amed Syndrome, Digenic |
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Adrenal hypoplasia, Microcephaly, Hypoplasia of the uterus |
OMIM:619151 |
Non-Specific Syndromic Intellectual Disability |
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Small scrotum, Abnormal corpus callosum morphology, Frontal cortical atrophy, Panic attack, Crypt... |
ORPHA:528084 |
Trisomy 20P |
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Hypospadias, Macroorchidism, Cryptorchidism |
ORPHA:261318 |
Donnai-Barrow Syndrome |
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Abnormality of the uterus, Bicornuate uterus, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:2143 |
48,Xxxy Syndrome |
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Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Hypogonadism, Abnormal aggres... |
ORPHA:96263 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
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Self-injurious behavior, Anxiety, Aggressive behavior |
OMIM:619467 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Self-injurious behavior, Anxiety, Aggressive behavior |
OMIM:271980 |
Gomez-Lopez-Hernandez Syndrome |
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Self-injurious behavior, Decreased response to growth hormone stimulation test |
OMIM:601853 |
Cowden Syndrome 6 |
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Goiter, Thyroid adenoma, Varicocele, Hyperthyroidism, Thyroiditis, Hypothyroidism, Ovarian cyst, ... |
OMIM:615109 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Abnormal prolactin level, Infertility, Agenesis of corpus callosum, Septo-optic dysplasia, Amenor... |
ORPHA:95494 |
Kleefstra Syndrome 2 |
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Self-injurious behavior, Microcephaly |
OMIM:617768 |
Cowden Syndrome 5 |
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Goiter, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Ovarian cyst, Hydrocele te... |
OMIM:615108 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Self-injurious behavi... |
ORPHA:544488 |
Kleefstra Syndrome |
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Hypospadias, Self-injurious behavior, Aggressive behavior, Self-mutilation, Cerebral cortical atr... |
ORPHA:261494 |
Spastic Paraplegia 26, Autosomal Recessive |
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Emotional lability, Cerebral cortical atrophy, Decreased serum testosterone concentration |
OMIM:609195 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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