Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
gonadotropin releasing hormone 1
Synonyms:
LHRH,  LNRH

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gnrh1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gnrh1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432

The table below shows human diseases predicted to be associated to Gnrh1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... OMIM:619146
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:619203
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Gonadal dysgenesis with female appearan... OMIM:273250
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Premature Ovarian Failure 7
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... OMIM:612964
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Gonadal dysgenesis, Abnormal female external genitalia ... OMIM:400044
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308750
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... OMIM:618096
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... OMIM:618187
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... OMIM:308700
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Premature Ovarian Failure 16
Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat... OMIM:618723
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El... OMIM:300068
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Isolated Growth Hormone Deficiency, Type Ib
Reduced circulating growth hormone concentration, Decreased response to growth hormone stimulatio... OMIM:612781
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c... OMIM:620651
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Cryptorchidism, Micropenis, Congenital adrenal h... OMIM:202150
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... ORPHA:90793
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619761
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... ORPHA:753
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Complete Androgen Insensitivity Syndrome
Delayed puberty, Blind vagina, Male infertility, Abnormal circulating follicle-stimulating hormon... ORPHA:99429
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Pseudovaginal Perineoscrotal Hypospadias
Ambiguous genitalia, male, Abnormality of the endocrine system, Bifid scrotum, Cryptorchidism, Pe... OMIM:264600
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphall... OMIM:615542
Partial Androgen Insensitivity Syndrome
Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, Aplasia of the u... ORPHA:90797
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced circulating... ORPHA:2235
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Obesity, Hypogonadism, Cryptorchidism, Micropenis ORPHA:85274
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Abnormal se... ORPHA:90796
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Increased circ... ORPHA:251623
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Ane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Reduced circulating prola... ORPHA:157954
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Tetragametic Chimerism
Hypopigmented skin patches, Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morph... ORPHA:199310
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis... OMIM:610475
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Abnormal female external genitalia morpho... OMIM:613080
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Bilateral cryptorchidism, Unilateral cryptorchidism, Abnormal scr... ORPHA:457083
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Bardet-Biedl Syndrome 6
External genital hypoplasia, Hypospadias, Renal cyst, Obesity, Vaginal atresia, Diabetes mellitus OMIM:605231
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Decreased circulating dehydroepiandrosterone-sul... OMIM:250790
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:607080
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Pituitary growth hormone cell adenoma, Pituitary p... OMIM:102200
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Frasier Syndrome
Ambiguous genitalia, male, Gonadoblastoma, Hypergonadotropic hypogonadism, Male pseudohermaphrodi... ORPHA:347
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oliver-Mcfarlane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of penis, Smal... OMIM:275400
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Abnormality of the endocrine system, Bifid scrotum, Androgen insufficiency, A... ORPHA:95706
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Blind vagina, Penoscrotal hypospadias, Glandular hypospadias, Bifid scrotum, High palate, Penile ... ORPHA:456328
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate ORPHA:1074
Intellectual Developmental Disorder, Autosomal Recessive 44
Shawl scrotum, Bifid uvula OMIM:615942
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
46,Xx Sex Reversal 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Hypogonadism, Cryptorchidi... ORPHA:3363
Hao-Fountain Syndrome
Cryptorchidism, Micropenis, Premature adrenarche OMIM:616863
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Bifid scrotum, Microphallus, Cafe-au-lait spot, Hypothyroidism, Abnormal scrotum mor... ORPHA:397590
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Obesity, Abnormality of the... OMIM:194072
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Decreased circula... OMIM:301033
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism... OMIM:616784
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Failure to thrive, Hypogonadism, Cryptorchidism, Truncal obesity ORPHA:261483
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Invasive Mole
Menometrorrhagia ORPHA:99925
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
Gordon Holmes Syndrome
Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo... OMIM:212840
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Xp22.3 Microdeletion Syndrome
Sacral dimple, Secondary amenorrhea, Ectopic anus, Aplasia/Hypoplasia of the skin, Polycystic ova... ORPHA:1643
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Obesity, Hypoplasia of penis ORPHA:3055
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Abdominal obesity, Increased circulating gonadotropin le... OMIM:300869
Pituitary Gigantism
Premature pubarche, Increased circulating prolactin concentration, Pituitary growth hormone cell ... ORPHA:99725
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
19Q13.11 Microdeletion Syndrome
Hypospadias, Cachexia, Bifid scrotum, Thin skin, Failure to thrive, Cryptorchidism, Supernumerary... ORPHA:217346
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Panhypophysitis
Abnormal thalamic MRI signal intensity, Impotence, Abnormal posterior pituitary morphogenesis, De... ORPHA:95513
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypospadias, Hypergonadotropic hypogonadism, Decreased ... ORPHA:163971
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:609441
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Decreased ma... ORPHA:95512
Meningioma
Urinary incontinence, Neoplasm of the tongue, Impotence, Decreased circulating cortisol level, Ab... ORPHA:2495
Cortisone Reductase Deficiency 1
Precocious puberty, Oligomenorrhea, Infertility OMIM:604931
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Decreased testicular size, Hypogonadism, Primary amenorrhea, Micropenis OMIM:614962
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Microcephaly 16, Primary, Autosomal Recessive
Hypermelanotic macule, Cryptorchidism, Hypopigmented macule, Decreased body weight OMIM:616681
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
46,Xy Ovotesticular Difference Of Sex Development
Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita... ORPHA:325345
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:146110
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Obesity... ORPHA:247768
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Pancreatitis, Xanthomatosis, Secondary amenorrhea, Aplasia/Hypoplasia of the s... ORPHA:79083
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Decreased testicular size, Eunuchoid habitus, Obesity, Type II diabetes mell... ORPHA:2234
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Reduced... OMIM:613038
Gestational Choriocarcinoma
Metrorrhagia ORPHA:99926
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Thin skin, Testicular torsion, Atypical scarring of skin, Cryptorchidism ORPHA:75496
Chromosome 3Q13.31 Deletion Syndrome
High palate, Decreased testicular size, Shawl scrotum, Cryptorchidism, Micropenis OMIM:615433
Dowling-Degos Disease
Hypermelanotic macule, Palmar pits, Erythematous papule, Hypopigmented macule, Digital pitting sc... ORPHA:79145
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Estrogen Resistance Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Xanthomatosis, Secondary amenorrhea, Aplasia/Hypoplasia of the skin, Thin skin, Dys... ORPHA:2348
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ... OMIM:613986
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Bardet-Biedl Syndrome 4
External genital hypoplasia, Renal cyst, Obesity, Hypogonadism, Cryptorchidism OMIM:615982
Mehmo Syndrome
External genital hypoplasia, Hypoplasia of penis, Cryptorchidism, Obesity, Diabetes mellitus, Mic... ORPHA:85282
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
Autosomal Dominant Omodysplasia
Ambiguous genitalia, Cryptorchidism, Bifid scrotum, Hypoplasia of penis ORPHA:93328
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Myotubular Myopathy With Abnormal Genital Development
Ambiguous genitalia, male, Hypospadias, Glandular hypospadias, Bifid scrotum, High palate, Bilate... OMIM:300219
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism ORPHA:502430
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism ORPHA:85287
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:91354
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Shawl scrotum, Cryptorchidism, Renal hypoplasia, Hypoplasia of penis ORPHA:2256
3Q13 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:1621
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Tetralogy Of Fallot
Preauricular pit, Cryptorchidism ORPHA:3303
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Eunuchoid... ORPHA:261534
Stankiewicz-Isidor Syndrome
Sacral dimple, Ureteral duplication, Hypospadias, Shawl scrotum, Cryptorchidism, Micropenis, Pine... OMIM:617516
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Obesity, Bifid uvula, ... ORPHA:254516
Obesity And Hypopigmentation
Obesity, Overgrowth OMIM:620195
Becker Nevus Syndrome
Hypermelanotic macule, Hypoplastic labia minora, Supernumerary nipple, Abnormal scrotum morphology ORPHA:64755
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Hydroureter, Obesity, Hydronephrosis, Hypogonadism, Vaginal atresia, Cystic ren... OMIM:615989
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va... OMIM:158330
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Bifid scrotum ORPHA:1547
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Gordon Syndrome
Cryptorchidism, High palate, Cleft palate ORPHA:376
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
1Q21.1 Microduplication Syndrome
Failure to thrive, Cryptorchidism, Hypospadias ORPHA:250994
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Abdominal obesity, Anterior hypopituitarism, Microphallus ORPHA:631
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ... ORPHA:572333
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp... ORPHA:752
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Failure to thrive, Cleft palate, Elevated circulating ... OMIM:305400
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... ORPHA:3464
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level... ORPHA:251937
Sheehan Syndrome
Dyspareunia, Impotence, Decreased circulating cortisol level, Central adrenal insufficiency, Decr... ORPHA:91355
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness
Shawl scrotum, Preauricular pit OMIM:614187
Cowden Syndrome 6
Skin tags, Thyroiditis, High palate, Furrowed tongue, Hamartomatous polyposis, Hypothyroidism, Va... OMIM:615109
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Diabetes mellitus, Obesity, Primary a... OMIM:610628
Image Syndrome
Hypospadias, Adrenal hypoplasia, Hydronephrosis, Hypogonadism, Cryptorchidism ORPHA:85173
Lumbar Syndrome
Skin tags, Hypospadias, Ectopic anus, Vesicoureteral reflux, Bifid scrotum, Anal atresia, Bifid u... ORPHA:83628
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Hydrocele testis, Thin skin, Abnormal sweat gland morphology OMIM:607823
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce... ORPHA:99832
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Small pituitary gla... ORPHA:2232
Ataxia-Telangiectasia
Delayed puberty, Aplasia/Hypoplasia of the skin, Abnormal testis morphology, Multiple cafe-au-lai... ORPHA:100
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Stt3A-Cdg
Small scrotum, Failure to thrive, Cryptorchidism, Micropenis ORPHA:370921
Leukodystrophy, Hypomyelinating, 21
Failure to thrive, Cryptorchidism, Hypogonadotropic hypogonadism OMIM:619310
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Hypothyroidism, Thin skin, Hypohidrosis, Cleft palate, Cryptorchidism, Super... ORPHA:1812
Ziegler-Huang Syndrome
Anterior pituitary hypoplasia, Elevated circulating follicle stimulating hormone level, Hypogonad... OMIM:620501
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Cleft palate, Ma... OMIM:300148
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Cutis Laxa, Autosomal Recessive, Type Iiia
Thin skin, Cryptorchidism, Failure to thrive OMIM:219150
Stt3B-Cdg
Small scrotum, Failure to thrive, Cryptorchidism, Micropenis ORPHA:370924
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Adrenal Hypoplasia, Congenital
Delayed puberty, Renal salt wasting, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious... OMIM:300200
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Oligomenorrhea, Polycy... ORPHA:280356
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Failure to thrive, Cryptorchidism, Micropenis, Small for gestational age OMIM:612626
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Failure to thrive, Cryptorchidism, Micropenis OMIM:615597
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Fa... OMIM:614736
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anterior hypopituitarism, High palate, Anal atresia, Midshaft hypospadias, Cryptorchidism ORPHA:2863
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Cleft palate, Hypoplas... OMIM:601076
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... ORPHA:3411
X-Linked Intellectual Disability, Cantagrel Type
Shawl scrotum ORPHA:85277
Currarino Syndrome
Hypospadias, Hypoplasia of penis, Abnormal intestine morphology, Bifid scrotum, Vesicoureteral re... ORPHA:1552
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypopigmented skin patches, Bifid scrotum, Hypogonadotropic hypogonadism, Hypoplasia of penis ORPHA:1295
Cowden Syndrome 1
Skin tags, Thyroiditis, High palate, Furrowed tongue, Hamartomatous polyposis, Hypothyroidism, Va... OMIM:158350
Penoscrotal Transposition
Penoscrotal transposition, Hypospadias, Abnormal external genitalia, Abnormality of the ureter, S... ORPHA:2842
Amed Syndrome, Digenic
Failure to thrive, Adrenal hypoplasia, Hypoplasia of the uterus OMIM:619151
Kallmann Syndrome
Decreased fertility, Breast hypoplasia, Delayed puberty, Erectile dysfunction, Anterior hypopitui... ORPHA:478
Isolated Glycerol Kinase Deficiency
Cryptorchidism, Adrenocortical hypoplasia ORPHA:408
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Hype... ORPHA:1672
Pituitary Stalk Interruption Syndrome
Delayed puberty, Hypoplasia of penis, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the ... ORPHA:95496
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Increased circulating cortisol level, Increased seru... ORPHA:562
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Shawl scrotum, Nevus, Cryptorchidism ORPHA:1778
Wilson-Turner Syndrome
Cryptorchidism, Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus... ORPHA:2237
Intellectual Developmental Disorder, Autosomal Dominant 72
Shawl scrotum, Obesity, Micropenis, Renal hypoplasia OMIM:620439
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Autosomal Recessive Amelia
Small scrotum, Cryptorchidism, Hypoplasia of penis ORPHA:1027
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Small pituitary gland, High palate, Primary amenorrhea, Cryptorchidism, Micropen... OMIM:612702
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Cleft palate, Abnormal scrotum morphology, Small scrotum, Cryptorchidism ORPHA:2505
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Hypoplasia of the prostate, Obesity, Cryptorchidism, Micropenis OMIM:301900
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Hypospadias, Hypercalciuria, Adrenal hypop... OMIM:614732
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Xanthomatosis, Secondary amenorrhea, Decreased serum leptin, Aplasia/Hypoplasia of ... ORPHA:280365
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Bifid scrotum, Hypothyroidism, Renal hypoplasia, Cryptorchidism, Renal insuf... ORPHA:85321
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy... OMIM:277000
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Mosaic Trisomy 14
Hypospadias, Hypoplasia of penis, Ectopic anus, High palate, Failure to thrive, Cleft palate, Cry... ORPHA:1703
Cree Mental Retardation Syndrome
Hypospadias, Cleft soft palate, Webbed neck, Bifid scrotum, Cryptorchidism OMIM:606851
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Decreased body weight, Bilateral cryptorchidism OMIM:617564
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, High palate, Anal atresia, Intestinal malrotation, Thin skin, Failure to thrive, Cry... OMIM:617602
Retinitis Pigmentosa 59
Failure to thrive, Cryptorchidism, Micropenis, Renal insufficiency OMIM:613861
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Decreased testicular size, Elevated circulating follicle stimulating hormone leve... ORPHA:3044
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, High palate, Anal atresia, Hypergonadotropic hypogo... OMIM:154230
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Childho... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Childho... ORPHA:71526
Meacham Syndrome
Hydrometrocolpos, Abnormal fallopian tube morphology, Hypoplasia of penis, Abnormal vagina morpho... ORPHA:3097
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Aganglionic megacolon, Hydroureter, Rectovaginal fis... OMIM:236700
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Meckel Syndrome 12
Ureteral hypoplasia, Renal hypoplasia, Bifid uvula, Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Ichthyosis, X-Linked
Testicular neoplasm, Cryptorchidism, Hypohidrosis OMIM:308100
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Cleft palate, Hypogonadism, Hypopituitarism, C... OMIM:615849
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism ORPHA:2489
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Acrofrontofacionasal Dysostosis 2
Sacral dimple, Hypospadias, High palate, Bifid scrotum, Shawl scrotum OMIM:239710
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Laurence-Moon Syndrome
Hypoplasia of penis, Obesity, Displacement of the urethral meatus, Type II diabetes mellitus, Cry... ORPHA:2377
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cleft palate, Primary amenorrhea, Cryptorchidis... OMIM:614880
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis ORPHA:168593
Bardet-Biedl Syndrome 1
High, narrow palate, Aganglionic megacolon, Truncal obesity, High palate, Abnormality of the ovar... OMIM:209900
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Cryptorchidism, Small for gestational age ORPHA:319332
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries OMIM:184700
Mirage Syndrome
Hypospadias, Adrenal hypoplasia, Decreased body weight, Microphallus, Decreased testicular size, ... OMIM:617053
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, High... ORPHA:1655
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Bilateral cryptorchidism OMIM:300982
Familial Glucocorticoid Deficiency
Renal salt wasting, Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryp... ORPHA:361
Branchial Arch Syndrome, X-Linked
High, narrow palate, Cryptorchidism, High palate, Webbed neck OMIM:301950
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Mmep Syndrome
Cryptorchidism ORPHA:3434
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Wagr Syndrome
Ambiguous genitalia, Obesity, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Short Syndrome
Thin skin, Ovarian cyst, Small for gestational age, Insulin-resistant diabetes mellitus OMIM:269880
Coffin-Siris Syndrome 8
Failure to thrive, Cryptorchidism OMIM:618362
Teebi Hypertelorism Syndrome 1
Hypopigmented macule, Bicornuate uterus, Preauricular pit, Shawl scrotum, Hydrocele testis OMIM:145420
Popliteal Pterygium Syndrome
Bifid scrotum, Bifid uvula, Cleft palate, Hypoplasia of the vagina, Small scrotum, Lower lip pit,... OMIM:119500
Duplication Of Urethra
Epispadias, Rectourethral fistula, Clitoral hypertrophy, Urinary incontinence, Penile hypospadias... ORPHA:237
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Adiposis Dolorosa
Obesity OMIM:103200
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility, Male pseudohermaphroditism, Female external genitalia in individual ... OMIM:264300
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypospadias, Anal atresia, Hypoplasia of penis ORPHA:1381
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Hypospadias, Glandular hypospadias, Nephrotic syndrome, Shawl scrotum ORPHA:2575
Pallister-Hall Syndrome
Ectopic kidney, Hypothalamic hamartoma, Thyroid hypoplasia, Bifid uvula, Small scrotum, Central a... ORPHA:672
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Skin dimple, Cryptorchidism ORPHA:2958
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Perlman Syndrome
High, narrow palate, Hyperinsulinemia, Abnormal pancreas morphology, Naevus flammeus of the eyeli... ORPHA:2849
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
17Q12 Microdeletion Syndrome
Renal insufficiency, Pancreatic aplasia, Cryptorchidism, Ureterocele, Shawl scrotum, Diabetes mel... ORPHA:261265
Vacterl/Vater Association
Hypospadias, Ectopic kidney, Hypoplasia of penis, Bifid scrotum, Tracheoesophageal fistula, Anal ... ORPHA:887
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft palate, Cryptorchidism, Hypogonadotropic hypogonadism OMIM:612370
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
49,Xyyyy Syndrome
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si... ORPHA:99330
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells OMIM:613493
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Laurence-Moon Syndrome
Small scrotum, Obesity, Micropenis OMIM:245800
Fetal Hydantoin Syndrome
Cryptorchidism, Bifid scrotum, Cleft palate ORPHA:1912
3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaric aciduria, Cryptorchidism OMIM:250951
Scarf Syndrome
Webbed neck, Hypoplastic nipples, Bifid scrotum, Cryptorchidism, Perineal hypospadias, Micropenis ORPHA:3134
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Hypoplastic male external genitalia, Cryptorchidism OMIM:618823
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Oligomenorrhea, Thin skin, Pituitary adenoma, Obesity, Abdominal obesity, Increa... OMIM:219090
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sacral dimple, High, narrow palate, Cryptorchidism, Preauricular pit OMIM:273390
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Microphthalmia, Syndromic 12
Intestinal malrotation, Cleft palate, Cryptorchidism, Bicornuate uterus OMIM:615524
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:300123
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Cleft palate, Small scrotum, Ambiguous genitalia, Cryptorchidism, Lip pit, Hypopla... ORPHA:1300
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Hypogonadism OMIM:601794
Distal Deletion 10P
Webbed neck, Hypoplasia of penis, Ectopic anus, Anal atresia, Cleft palate, Polycystic ovaries, C... ORPHA:1580
Tetraamelia-Multiple Malformations Syndrome
Anal atresia, Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia ORPHA:3301
Prieto Syndrome
Skin dimple, Cryptorchidism OMIM:309610
Alazami-Yuan Syndrome
Cryptorchidism, High palate OMIM:617126
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis, Thin skin, Cryptorchidism OMIM:614438
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Isolated Hemihyperplasia
Cryptorchidism ORPHA:2128
Goldberg-Shprintzen Megacolon Syndrome
Cleft palate, Aganglionic megacolon, Bifid scrotum, Hypospadias ORPHA:66629
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, High palate, Female infertility, Amenorrhea, Increased circulati... OMIM:110100
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity ORPHA:171706
Intellectual Disability, Wolff Type
Abnormal intestine morphology, Cryptorchidism, Hypospadias ORPHA:3080
Arthrogryposis, Distal, Type 1C
Decreased body weight, High palate, Bifid uvula, Cleft palate, Cryptorchidism OMIM:619110
Aarskog-Scott Syndrome
Shawl scrotum, Cryptorchidism, Cleft palate ORPHA:915
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Isosexual precocious puberty, Premature puba... ORPHA:90795
3Mc Syndrome 3
Sacral dimple, Penoscrotal hypospadias, Bifid scrotum, Cleft palate, Cryptorchidism, Micropenis, ... OMIM:248340
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79443
Xeroderma Pigmentosum
Hypopigmented skin patches, Hypermelanotic macule, Decreased testicular size, Macule, Thin skin, ... ORPHA:910
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Martin-Probst Syndrome
Renal insufficiency, Hypoplastic nipples, Bifid scrotum, Hypothyroidism, Chordee, Proteinuria, Cr... OMIM:300519
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Acrofrontofacionasal Dysostosis
Hypopigmented skin patches, Hypospadias, High palate, Bifid scrotum, Cleft palate ORPHA:1784
Non-Distal Duplication 10Q
Cryptorchidism, High palate ORPHA:1695
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Testicular seminoma, Abnormal... OMIM:180860
Craniofrontonasal Dysplasia
Shawl scrotum, High palate, Hypospadias ORPHA:1520
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Renal insufficiency, Vesicoureteral reflux, Bifid scrot... OMIM:140000
Li-Campeau Syndrome
Hypothyroidism, Cryptorchidism, Micropenis OMIM:619189
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Testicular seminoma, Hypohidrosis, Hypogonadism, Abnormal stomach morp... ORPHA:281090
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypogonadism, Small scro... ORPHA:739
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hyperhidrosis, Hypogonadis... ORPHA:91347
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism OMIM:618512
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Decreased testicular size, Hypogonadism, Small scrotum, Cryptorchidism, Trun... ORPHA:127
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Distal renal tubular acidosis, Hematuria, Aplasia of the vagina, Aplasia of t... OMIM:146255
Septopreoptic Holoprosencephaly
Precocious puberty, Central diabetes insipidus, Anteriorly placed anus, Anterior hypopituitarism ORPHA:280195
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Birk-Aharoni Syndrome
Failure to thrive, Cryptorchidism, Micropenis OMIM:620071
Chromosome 19Q13.11 Deletion Syndrome, Distal
Hypospadias, Bifid scrotum, Failure to thrive, Aplasia cutis congenita of scalp, Cryptorchidism OMIM:613026
Congenital Primary Megaureter
Congenital megaureter, Vesicoureteral reflux, Nephrolithiasis, Microscopic hematuria, Hydronephro... ORPHA:617
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Transverse vaginal septum, Central diabetes insipidus, Decreased response to growth hormone stimu... OMIM:129900
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Meier-Gorlin Syndrome 1
Breast hypoplasia, Clitoral hypertrophy, Hypoplastic labia minora, High palate, Thin skin, Failur... OMIM:224690
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Rapp-Hodgkin Syndrome
Hypospadias, Decreased number of sweat glands, Hypohidrosis, Thin skin, Velopharyngeal insufficie... OMIM:129400
Absence Of Fingerprints-Congenital Milia Syndrome
Hypohidrosis, Thin skin, Milia ORPHA:1658
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Prune Belly Syndrome
Hydroureter, Multicystic kidney dysplasia, Renal insufficiency, Vesicoureteral reflux, Urogenital... ORPHA:2970
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Micropenis, Hypospadias OMIM:301830
Caudal Duplication
Ureteral duplication, Intestinal duplication, Cryptorchidism, Uterus didelphys, Abnormal penis mo... ORPHA:1756
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level, Irregular menstruation OMIM:615238
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Cryptorchidism OMIM:604317
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Aganglionic megacolon, Glandular hypospadias, Ectopic anus, Urogenital sinus an... ORPHA:2473
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, High palate OMIM:618393
Trisomy 4P
Cryptorchidism, Hypospadias ORPHA:1738
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Anal atresia, Clitoral hypoplasia, Pyloric stenosi... OMIM:618419
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, Ambiguous genitalia, female, Male... OMIM:194080
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Cryptorchidism OMIM:618766
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Hypospadias OMIM:618815
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Multiple cafe-au-lait spots, Webbed neck ORPHA:638
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow palate, Bifid scrotum, Prominent scrotal raphe, Cleft palate, Subcutaneous nodule, Melanoc... ORPHA:1555
Orthostatic Hypotension 1
Retrograde ejaculation, High palate, Nocturia, Reduced circulating prolactin concentration OMIM:223360
Recessive X-Linked Ichthyosis
Hypohidrosis, Cryptorchidism ORPHA:461
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... ORPHA:79085
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cryptorchidism, Hypospadias OMIM:620135
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Retrograde ejaculation, Hematuria, Dysuri... ORPHA:49041
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Cryptorchidism OMIM:613970
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Diabetes insipidus, Hyposthenuria, Anterio... OMIM:615926
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Cleft palate, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogona... OMIM:244200
Diphallia